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Use of Aromatase Inhibitors in Children with Short Stature and

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Improving health...connecting people...saving lives                                               Volume 7 • Issue 1, Spring 2008



Use of Aromatase
Inhibitors in Children
with Short Stature and
Advanced Bone Age
Limited growth potential resulting from       The FDA has approved AIs for use in        of acceptable hormonal and metabolic
advancing skeletal maturation is a com-       reducing exposure to estrogen in post-     control. Pediatric endocrinologists treat-
mon problem in pediatric endocrinolo-         menopausal women with breast can-          ing children with CAH often face the
gy. Estrogen is responsible for bone age      cer2. AIs are not FDA approved for pe-     dilemma of how to balance the effects
(BA) advancement and growth plate             diatric patients, although they have       of hormonal replacement therapy. In
fusion in children1. In females estrogen      been used in this group for more than      order to control the excessive androgen
is mainly formed in the ovaries and to        20 years. The AIs first used were amin-    levels and BA advancement, higher
a lesser degree through the aromatiza-        oglutethimide and testolactone, and        doses of glucocorticoids are sometimes
tion of androstenedione. In males, the        the AIs now used in children are letro-    required with possible negative effects
testes produce a small amount of es-          zole and anastrozole.3 These drugs are     on linear growth. On the other hand,
trogen and the majority of it is derived      non-steroidal inhibitors which inacti-     lower doses could cause androgen
from the aromatization of testosterone.       vate the aromatase enzyme. Letrozole       levels that are too high followed by
Aromatization is a chemical reaction re-      appears to be a more potent suppressor     estrogen levels that are too high, which
quiring the enzyme cytochrome P450            of estrogen levels than anastrozole4 and   could lead to the advancement of BA
aromatase. Blocking estrogen produc-          has been more widely used in children.     and then to compromised final adult
tion by aromatase inhibitors (AIs) could                                                 height.
                                              Congenital adrenal hyperplasia (CAH)
potentially delay skeletal maturation
                                              is one of the conditions in which use      The data on the use of AIs in pediatric
and fusion, prolonging linear growth.
                                              of AIs could potentially improve the       patients is limited. Reports on letrozole
This could improve the final adult
                                              final adult height. Bone age is often      treatment in children focuses on the ef-
height in children with short stature of
                                              advanced in children with CAH in spite     fects on skeletal maturation and final
various causes.
                                                                                                                  continued on page 22


                                         Let’s get warmed up for the 2008 No-Sweat Run for a Cure!
                                         Launching May 1. Please contact Ellie Avitan, ellie@caresfoundation.org, for details.




Cares Foundation, Inc.      Spring 2008                                                                                                 1
IN THIS ISSUE                                                2007 CARES CAH Conference
CAH Articles                                        The 2007 CARES CAH Conference was held on November 10 at Cedars
Aromatase Inhibitors                 1              Sinai Medical Center in Los Angeles, CA. Nearly 350 people attended and
Hydrocortisone Infusion-pump Therapy 7              made it a great day. The conference consisted of morning and afternoon
P450 Oxidoreductase Deficiency      11              sessions with tracks for adults, children, Classical CAH, Non-Classical CAH
News                                                and Nurses. The featured talks included CAH Basics, Adult Treatment &
CARES Conferences                2, 12              Monitoring, Fertility & Pregnancy in CAH,Talking to Your Child about CAH,
Medical Advisory Board          4,5,16              Surgical Reconstruction, and Sick Day Rules & Injection Training. Spanish
New Staff Members                   12              language sessions were also available for Spanish-speaking attendees.
Solu-Cortef®News                    13
CARES Family Fun Day                13              CARES Foundation would like to give special thanks to Cedars Sinai Medi-
CARES Meetup at White Post Farms 13                 cal Center for donating the use of their conference center, and Dr. Ricardo
Positive Results of Chronocort®     23              Azziz and Dr. Mitchell Geffner for co-hosting the conference. Ms. Faye Byrd
Carol Van Ryzin Award               23              and the staff of the conference center deserve a big thank you for all of their
                                                    help in coordinating the day and helping everything to run smoothly.
President/CEO’s Letter                          3
CAH Studies                                15, 16   Special thanks also go out to Scherr Lillico and The Proper Image Events for
Personal Stories                            18-21   planning the conference,Tim & Liza Goodell and the Red Pearl Kitchen for
Fundraising                                  1, 6   hosting the speakers’ dinner, all the hard-working volunteers who served as
                                                    babysitters or translators for the conference, and the California Department
Teen Corner
                                                    of Health that provided the CEU’s for nurses attending the conference.
Alcohol, Teens & Adrenal Insufficiency 8
Volunteer Work in Costa Rica          14            The next CARES CAH Conference will be held in Winter or Spring 2009.
Support Groups                                12
Advocacy
Newborn Screening Saves Lives                 17


FOUNDERS
Kelly and Adam Leight
Staff
Kelly R. Leight, Chief Executive Officer
Kelly@caresfoundation.org
Meryl Stone, Chief Operating Officer                  Jason Lin
Meryl@caresfoundation.org                             and Kelly Leight
                                                                                            Eli’Anna Scott getting her face painted.
Gretchen Alger Lin, Public Affairs
Gretchen@caresfoundation.org                                                                                As always, CARES Foundation
                                                      Children playing in the babysittting room              would like to thank all of the
Mia Moody, Adult Support                                                                                        sponsors for this event.
Mia@caresfoundation.org                                                                                                  Pfizer
                                                                                                                      EMD Serono
Stephanie Erb, Parent/Family Support                                                                                 PerkinElmer
Stephanie@caresfoundation.org                                                                                       March of Dimes
                                                                                                                       Novartis
Suzanne Levy, Program Manager                                                                                            Merck
Suzanne@caresfoundation.org                                                                                            Organon
Ellie Avitan, Development Director                                                                           Cedars Sinai Medical Center
                                                                                                            Childrens Hospital Los Angeles
Ellie@caresfoundation.org
                                                                                                                California Department
Camela Cruz, Intern                                                                                                of Public Health
Camela@caresfoundation.org                                                                                     Genetic Services Branch
                                                                                                                      TAP Grants
Odaly Roche, Administrative Assistant                                                                        Centers for Disease Control
Odaly@caresfoundation.org


2                                                                                             Cares Foundation, Inc.           Spring 2008
a message from the President & founder
                                                                                                     BOARD OF TRUSTEES
                                                                                                     Kelly Rosso Leight, President
We live in a time when                                      and if so, how to fund it. If you are    Gregory Kraff, Vice President
the words impossible and                                    interested in helping, please email      Bill Trzos, Treasurer
unsolvable are no longer                                                                             Vivian Altman Quintanilla,
                                                            me at kelly@caresfoundation.org.
part of the scientific com-                                                                            Parliamentarian
                                                            To allow for more planning time,         Stephanie R. Fracassa, Secretary
munity’s vocabulary. Each                                   the next conference will be in the       Nancy Kislin Flaum
day we move closer to trials                                winter or spring of 2009.                Louise Fleming, R.N.
that will not just minimize                                                                          Janet Green
the symptoms of disease                                       At The Summit                          Monica Heinze
and injury but eliminate                                      And now for the most exciting news:    Tonya Judson, R.N.
                                                                                                     K. Adam Leight
them.—Christopher Reeve                                       CARES has begun planning its Sum-
Testimony to US House of Representative, 1999
                                                                                                     Jayne Mackta
                                                   mit to Establish Comprehensive Care Centers       Alan Macy
                                                   for CAH. As we are all aware, the quality of      Stephen Maebius
Dear Friends,
                                                   care for those with CAH can vary dramatical-      Hope Z. Raphalian
We are on the brink of great things for our
                                                   ly. Most especially, we have identified a huge    Diane Snyder, M.D.
community. For the first time in decades,                                                            Bonnie Stevens
                                                   gap in care for adults with CAH. Our goal
a new medication may be available soon                                                               Jessica Hall Upchurch
                                                   is to establish guidelines for comprehensive
to treat CAH. Phoqus Pharmaceuticals has
                                                   care centers based on input from consumers        SCIENTIFIC & MEDICAL
finished the second phase of its US clinical
                                                   (CARES members) and healthcare providers          ADVISORY BOARD
trial on Chronocort, with its unique delivery                                                        Richard J. Auchus, M.D., Ph.D.
                                                   about how to best serve our community and
system for hydrocortisone. (more on pg. 23)                                                          Henry Anhalt, D.O.
                                                   improve healthcare quality. We believe that
                                                                                                     Ricardo Azziz, M.D.
CARES Makes a difference!                          there should be a place for everyone with CAH     Susan W. Baker, Ph.D.
For the fourth year, CARES is providing sup-       to go for knowledgeable and experienced           Sheri A. Berenbaum, Ph.D.
port to the CAH Natural History Study at NIH,      healthcare with access to sub-specialists as      Felix A. Conte, M.D.
                                                   needed; where continuity of care is provided      Alejandro Diaz, M.D.
which has studied over 210 people and has                                                            Walter Futterweit, M.D.
gained information which will shape the            through the teen and adult years, where the
                                                                                                     Mitchell E. Geffner, M.D.
future of care. We have recently given grants      volume of patients is sufficient to gain ample
                                                                                                     Karen J. Loechner, M.D., Ph.D.
to support two studies on nonclassical CAH         clinical experience, and where opportunities      Claude Migeon, M.D.
while continuing our own quality of life           for research and to study and learn from our      Walter L. Miller, M.D.
survey of women with classical CAH. CARES          population are provided. The Summit proj-         Maria I. New, M.D.
                                                   ect will be a 1-1/2 to 2 year project that will   Sharon E. Oberfield, M.D.
has given out over $300,000 in grants to sup-                                                        Dix P. Poppas, M.D.
port research since its launch 6-1/2 years         result in a publishable position statement. We
                                                                                                     Richard C. Rink, M.D.
ago, while providing support, education and        believe this project will dramatically improve
                                                                                                     Scott A. Rivkees, M.D.
resources for those affected, their families       healthcare for our community and lay the          Richard Ross, M.D.
and the community that cares for those with        groundwork for expanded research opportu-         David E. Sandberg, Ph.D
CAH.                                               nities in the future.                             Ellen Seely, M.D.
                                                                                                     Phyllis W. Speiser, M.D.
                                                   The Best Non-Event!                               Bradford L. Therrell, Ph.D.
CAH Conference Impacts the World                                                                     Maria Vogiatzi, M.D.
                                                   In support of this great progress, I hope you
This past November, almost 350 people at-                                                            Garry Warne, M.D.
                                                   will consider forming a team for our 2008
tended our CAH conference from all over the                                                          Selma Feldman Witchel, M.D.
                                                   No-Sweat Run for a Cure; a virtual event for a
world. We ran specialized tracks for different                                                       This newsletter is published
                                                   real cause. Last year’s run was a smashing
interests including parents, adults with classi-                                                     3 times a year.
                                                   success, and we’re anticipating another
cal and nonclassical CAH, nurses and Spanish-
                                                   fabulous “non-event.” Please contact Ellie at     2008 CARES Foundation, Inc. All
speaking members. The biggest complaints                                                             rights reserved. Republication or
                                                   866-277-3737 or ellie@caresfoundation.org
we received were that there was not enough                                                           redistribution of CARES newsletter
                                                   for all the exciting details.                     content, including by framing or
time and some of the lectures were too                                                               similar means, is prohibited with-
crowded! A committee is looking at whether
                                                   Warmly,                                           out prior written consent of CARES
we should extend the conference to 2 days          Kelly                                             Foundation, Inc.


Cares Foundation, Inc.         Spring 2008                                                                                            3
New Additions to Medical Advisory Board


           CARES Foundation is pleased to welcome Richard J. Auchus, M.D., Ph.D.,
              Felix Conte, M.D., Walter L. Miller, M.D., Sharon E. Oberfield, M.D.,
    Selma Feldman Witchel, M.D., and Alejandro Diaz, M.D. to our Medical Advisory Board!
Richard J. Auchus,                          sional organizations include the Ameri-       San Francisco (UCSF), is a graduate of Co-
M.D., Ph.D.                                 can College of Physicians/American So-        lumbia University, New York University
                                            ciety of Internal Medicine, the Endocrine     School of Medicine and was a resident
                                            Society and the Dallas County Medical         in Pediatrics at Bellevue Hospital in New
                                            Society/Texas Medical Association. Dr.        York City. He was a fellow in pediatric en-
                                            Auchus has authored over 90 journal ar-       docrinology at Babies Hospital and UCSF
                                            ticles and book chapters and presented        under the tutelage of Dr. Melvin Grum-
                                            at a diverse range of national and inter-     bach and Dr. Selna Kaplan. In 1970, Dr.
                                            national conferences. His group is active     Conte was appointed Assistant Professor
                                            in research projects ranging from basic       at UCSF and has worked together with
                                            chemical principles of steroid biosyn-        them ever since. During his tenure, he
                                            thetic enzymes to clinical and transla-       has helped train over 100 fellows from
                                            tional investigation in disorders of the      all over the world and has published nu-
                                            pituitary, adrenals, ovaries, and testes      merous articles and chapters about pe-
                                            that cause hypertension, infertility and      diatric endocrine conditions. Dr. Conte
                                            obesity.                                      has a particular interest in children with
                                                                                          atypical genitalia.
                                            The common theme of all his work is ste-
Dr. Richard Auchus is Associate Professor   roid and sterol biosynthesis and action Walter L. Miller, M.D.
of Internal Medicine, University of Texas   with an emphasis on human diseases. Dr.
Southwestern Medical Center, Dallas,        Auchus collaborates with a variety of in-
Texas. He received his S.B. in Chemistry    vestigators spanning a broad range of sci-
from Massachusetts Institute of Technol-    ence from clinical neurobiology to basic
ogy and his medical degree and doctorate    mechanisms of nematode lifecycles. His
in pharmacology from Washington Uni-        clinical interests also focus on pituitary,
versity. Dr. Auchus completed an intern-    adrenal, and reproductive diseases that
ship and residency in Internal Medicine     involve disorders of steroid production.
at the University of Iowa Hospitals and
Clinics and a fellowship in Endocrinolo-
                                            Felix A. Conte, M.D.
                                            Dr. Felix Conte, Professor Emeritus in Pe-
gy at the Wilford Hall USAF Hospital and
                                            diatrics at the University of California in
the University of Texas Health Sciences
Center in San Antonio. He did postdoc-
toral work and training at the University
of California, San Francisco prior to join-
ing the faculty in Dallas.
                                                                                          Dr.Walter L. Miller, Professor of Pediatrics
Dr. Auchus has been the recipient of                                                      and Chief of Endocrinology at the Univer-
several awards and honors including                                                       sity of California, San Francisco (UCSF),
the Burroughs Wellcome Clinical Scien-                                                    holds joint appointments in the Center
tist Award in Translational Research and                                                  for Reproductive Sciences and the Hu-
the Jean D. Wilson, M.D. Award for Ex-                                                    man Genetics Program. He received his
cellence in Scientific Mentoring at UT                                                    S.B. in Philosophy from the Massachu-
Southwestern. Memberships in profes-                                                      setts Institute of Technology and his M.D.

4                                                                                          Cares Foundation, Inc.      Spring 2008
                                                                                             Medical Advisory Board




from Duke. After completing two years       Sharon E. Oberfield, M.D.                     Selma Feldman Witchel, M.D.
of residency in pediatrics at the Mas-
sachusetts General Hospital and two
years of general endocrinology in the
USPHS at NIH, Dr. Miller moved to San
Francisco for a third year of residency,
a two-year fellowship in biochemistry
and one year of pediatric endocrinology
before joining the UCSF faculty in 1978.
Promoted to Associate Professor in 1983,
and to Professor in 1987, he was named
Division Chief in 2000.

Dr. Miller is internationally known for
his landmark work in the molecular
biology of steroid hormone synthesis.       Sharon E. Oberfield. M.D., Professor of       Dr. Selma Feldman Witchel is an
His group described the post-transla-       Pediatrics is the Director of the Division    Associate Professor of Pediatrics at
tional regulation of androgen synthe-       of Pediatric Endocrinology, Diabetes and      the Children’s Hospital of UPMC, Uni-
sis and has used clinical investigation,    Metabolism and the Program Director           versity of Pittsburgh, Pittsburgh, PA
molecular and cellular biology, biophys-    of the Fellowship Training Program at         where she also serves as the Program
ics and computational imaging to study      Columbia University Medical Center,           Director of the Pediatric Endocrine
human disease. Dr.Miller was the co-chair   New York Presbyterian Hospital.               Fellowship Program. She is a graduate
of the LWPES/ESPE consensus confer-                                                       of Oberlin College and the University of
ence on CAH and principal author of the     In the past, Dr. Oberfield has been a         Pittsburgh School of Medicine. Follow-
consensus statement published in 2002.      Director of the Lawson Wilkins Pediatric      ing her residency in pediatrics at the
                                            Endocrine Society (LWPES) and chaired         Children’s Hospital Medical Center in
Active in numerous societies and
                                            its Drug and Therapeutics Committee.          Cincinnati, Ohio, Dr.Witchel completed
editorial boards, Dr. Miller served on
                                            She is the current Chair of the LWPES         her pediatric endocrine fellowship at
the Biochemical Endocrinology Study
                                            Program Directors Committee and a             the Children’s Hospital of Pittsburgh.
Section, the Basil O’Connor Advisory
                                            member of the Endocrine Society and
Committee of the March of Dimes                                                           Dr. Witchel has a long-standing inter-
                                            its Clinical Guidelines Subcommittee.
and currently serves on the Board of                                                      est in the diagnosis and management
                                            She is a current member of the Diabetes,
Scientific Counselors of the National                                                     of congenital adrenal hyperplasia. She
                                            Endocrinology and Metabolic Diseases B
Institute of Child Health and Human                                                       has published many research articles,
                                            Subcommittee of the Diabetes and Diges-
Development. He received the Ross Re-                                                     reviews and chapters about congeni-
                                            tive and Kidney Diseases Initial Review
search Award from the Western Society                                                     tal adrenal hyperplasia, ambiguous
                                            Committee, National Institute of Diabe-
for Pediatric Research, the Edwin B. Ast-                                                 genitalia, genetics of disorders
                                            tes Digestive and Kidney Diseases. The
wood Award and the Clinical Investiga-                                                    associated with androgen excess, and
                                            author or co-author of more than 125
tor Award from the Endocrine Society,                                                     polycystic ovary syndrome. Dr. Witchel
                                            articles, multiple chapters and reviews,
the Clinical Endocrinology Trust Medal                                                    is a member of the Endocrine Soci-
                                            Dr. Oberfield is also an invited speaker at
from the British Endocrine Society, and                                                   ety, Lawson Wilkins Pediatric Society,
                                            national and international meetings on
the Samuel Rosenthal Foundation Prize                                                     American Pediatric Society, and the
                                            topics related to disorders of the adrenal
for Excellence in Academic Pediatrics.                                                    Androgen Excess Society.
                                            gland and puberty.
                                                                                                          continued on page page 16

Cares Foundation, Inc.    Spring 2008                                                                                            5
Fundraising


Over the last few months, CARES’ supporters have been very active, finding creative ways to raise money for the organization
        and our mission. We rely on the generosity of our members, their families and friends and corporate sponsors
for our funding, and we appreciate all who pitch in! Here are some of the activities that occurred over the last few months.




                                                                                          Gary Russell put on his
                                                                                          running shoes again and
Susan Fry in Massachusetts was wondering how she could raise money for CARES. As          ran in the 2008 Houston
an Osborne Books consultant, she realized she could sponsor a vendor fair! She did        half marathon in January.
so in her home town of Pepperall last October. It was a great success!                    Gary asked friends and family to sponsor him
                                                                                          in loving memory of his cousin Nicole Chasson
                                                                                          (inset), SWCAH, who passed away in 2005.




Marisa Langford formed Team CARES in
                                                                                          Happy 1st Birthday to Kaylin Wentink. Her
honor of her son Jake, who has CAH. She ran
                                                 Happy Birthday wishes go out to          birthday was in January and her parents
in the Gasparilla Classic 15K Run in Febru-
                                                 Clay Upchurch. His 3rd birthday was      asked family and friends to make donations
ary and enlisted her friend, Eric Rabinovitz
                                                 in March. Jessica and Matthew also       to CARES in lieu of birthday gifts. They hand-
to run with her. If you want to read more
                                                 asked friends and family to make do-     ed out brochures and information about CAH
about Marisa, her family, and this event, you
                                                 nations in lieu of birthday gifts. Ev-   and CARES. Kaylin certainly enjoyed her cake
can read her blog at http://icareforjake.blog-
                                                 eryone had a wonderful time at his       that day! Who could resist that “sweet” face?
spot.com/.
                                                 birthday party!
             Rhonda Brittain enlisted the help of Cold Stone Creamery in Oregon for her fundraiser. Cold Stone
              agreed to donate a portion of the proceeds to CARES for a few hours on April 3. To supplement
                 her fundraising efforts, Rhonda also secured prizes for a raffle drawing held that day!
     We are so grateful for everyone’s support. Each of these events has such a positive impact on our entire community.
                They serve to not only support us financially, but also raise awareness about CAH. Way to go!

6                                                                                            Cares Foundation, Inc.      Spring 2008
                                                                                                                                 CAH Article




                                      Peter Hindmarsh, MD, SM Bryan, MD, David Brown, MD and Chris G.

Dr. Peter Hindmarsh, a member of                                                                         To quote Chris, “I have been on the
the Development Endocrinology                                                                            pump for over two years: I think I
Research Group at the Institute of                                                                       probably have the best controlled
Child Health at University College                                                                       CAH in the world. Another bonus
London in the United Kingdom,                                                                            is that I started to grow again… and
has used continuous hydrocor-                                                                            am over 5’9”. I go to the gym as of-
tisone infusion therapy to treat                                                                         ten as I can. My weight is stable and
congenital adrenal hyperpla-                                                                             everyone says I am very lean. I do
sia (CAH) in one of his patients,                                                                        battle with accepting that I am not
Chris. He has reported on this                                                                           fat and worry about my weight, but I
experience at a number of                      Hourly pump infusion rates are shown in black.            realize now that my weight was not
                                               Hourly blood cortisol concentrations are shown
endocrinology meetings. The treatment                                                                my fault. Of course you have to be care-
                                               in white.
involves a continuous subcutaneous                                                                   ful with what you eat, but I am now cer-
(under the skin) injection of cortisone
                                      serious CAH control problems, it can                           tainly eating more than I ever did in the
through a small needle that is left inbe useful. Chris’s problems included                           years where I battled with my weight,
place 24 hours a day. The equipment   debilitating headaches, excessive weight                       even though I am on the same dose. I
is identical to that used by diabeticsgain, anger, depression, acne and gastri-                      think it is the way the hydrocortisone is
who are treated with a continuous     tis, depending on which oral treatment                         delivered, slowly and continuously at a
insulin infusion and is adapted to in-he was taking. He was treated first                            rate which has been specially tailored
ject hydrocortisone instead of insulin.
                                      with increasing doses of hydrocorti-                           to suit my body’s needs. It took some
The rate of injection can be varied tosone, next with prednisolone and then                          getting used to having it attached to
mimic the natural cortisol secretion rate
                                      with dexamethasone. Control was never                          me all the time, especially at night, but I
(see chart) and can also be increased satisfactory, and he always experienced                        am now so used to it that I feel strange
to cover times of stress or illness.  some combination of the unwanted side                          without it.”
Besides controlling the infusion rate, the
                                      effects. Finally, during puberty, he was                       “You have to be disciplined in changing
patient must periodically change the  switched back to hydrocortisone, but                           the site regularly, but really it’s a very
injection site.                       then he experienced weight loss, weak-                         small price to pay when I consider what
                                      ness, and dizziness and was unable to                          advantages this method has given me.
This treatment is considerably more attend school. Although at first reluctant
complicated and intrusive than tak- to try the continuous injection treatment,                       The pump gave me my life back, and
ing a few tablets by mouth each day. he was so desperate, he decided to give                         I will always be grateful to Professor
However, for someone like Chris, with it a try. He is now a university student                       Hindmarsh and my mum, as I could not
                                                                                                     have got through any of this without her
                                      and is delighted with the results.                             constant love and support.”
                           This was before
                           I started using
                           the pump and
                           I was not getting
                           enough cortisol.



                                   The pump was so
                                   efficient that after
                                 2 months, I started
                               to show signs of over                                            This was taken a few months after photo 2, as Prof
                                  suppression with a                                            Hindmarsh lowered and adjusted the rates to what I
                                     puffy face, so we                                          needed. I no longer have a weight issue afterbattling
                                    reduced the rates.                                          with my weight all my life.

Cares Foundation, Inc.     Spring 2008                                                                                                             7
Teen Corner




                  By Helen Mann, Coordinator, New Zealand CAH Support Group, Reprinted with permission, CAHNZ

Overview                                                                                                    healthy drinking behavior and
Throughout human history                                                                                    decreasing the monitoring of
alcohol has been used in many                                                                               alcohol consumption in general.
festivities, celebrations and                                                                               Research suggests around 60%
social occasions. My purpose in                                                                             of alcohol partaken by underage
writing this article is to encour-                                                                          adolescents is obtained from
age parents whose adolescents                                                                               parents.
have CAH to develop a healthy
                                                                                                             Our attitude on drinking differs
and informed view about teen-
                                                                                                             from some other countries. Our
agers’ alcohol use so they can
                                                                                                             “binge”mentality has widespread
assist them to intelligently
                                                                                                             repercussions for personal health,
negotiate the risks associated
                                                                                                             family life and our lives in the
with adrenal insufficiency and
                                                                                                             wider community and the work-
alcohol use.
                                                                                                             place. According to one recent
The normalization of binge                                                                                   estimate, alcohol costs our coun-
drinking in our culture is well                                                                              try $1.17 billion annually in lost
recognized and, in this regard,                                                                              productivity, is linked with 70%
youth receive more than their                                                                                of accident and emergency
fair share of criticism in the media. It        it regularly through binge drinking. Mixing        admissions at hospitals and is blamed
should be noted however that many               alcohol with other substances e.g. party           for approximately 90% of weekend
teens either do not drink or drink with-        pills, cannabis, creates additional health         crime. When alcohol is teamed with
in sensible limits and engage in safe           risks.                                             access to fast cars and other illicit drugs,
practices such as nominating “safe driv-                                                           our high rates of teen pregnancy, sexu-
ers.” It is also true that, due to teens’ in-   Alcohol, it can be said, is a great servant but    ally-transmitted infections and date-rape,
creased autonomy and time spent with            a poor master. Along with nicotine and can-        along with recent research linking long
peers, some get caught up with oth-             nabis, it has been New Zealanders favorite         term binge drinking with brain damage,
ers who misuse or abuse alcohol. This           drug of choice for many decades. The use           it is clear this is a social issue that affects
presents difficulties for parents who,          and misuse of alcohol raises some special          us all.
on one hand, acknowledge the need for           issues for parents of teenagers and young
teens’ increased independence and, on           adults who have CAH. Many argue alcohol            Parenting Guidelines Around
the other, are hard-wired to keep them          use among youth has become an area of in-          Teen Alcohol Use: The Basics
safe. Shifts in the parenting role also         creased concern. Why is this?                      According to renowned family therapist,
occur during this period, from a strong-                                                           Virginia Satir, parents are responsible
ly directive to more consultative posi-
                                                Since WW2, alcohol consumption has                 for training children in four main areas:
tion. This can be frustrating at times for
                                                increased throughout the Western world,            communication, limits and boundaries,
parents when well-meaning information
                                                reflecting increased levels of personal            self-esteem and links with the outside
or support is offered, but neither wanted
                                                autonomy and discretionary income                  world. When it comes to communicating
nor accepted.
                                                (especially among youth), marketing &              about and setting limits around alcohol
                                                media pressures, a rise in more liberal            use, effective parents recognize there is
Alcohol & New Zealanders                        or democratic styles of parenting and              no “one size fits all” way of risk-proofing
Many use alcohol responsibly and have           an increase in availability. For a variety of      their teen. There are however, some prin-
healthy attitudes and practices around          reasons, teenagers today are also less likely      ciples that can assist them in negotiating
drinking. However, a significant propor-        today to spend time in the company of              this territory.
tion (about 20%) in our country misuse          adults, reducing opportunities for modeling

8                                                                                                 Cares Foundation, Inc.       Spring 2008
                                                                                                                    CAH Article


         The first is to enable children      in particular hate hypocrisy, and “do as       to minimize alcohol misuse or abuse,
from an early age to make good choic-         I say but not as I do” is not tolerated by     neither should parents “sweat the small
es. In early childhood, decision-mak-         modern youth. Teenagers want adults to         stuff.” One drunken episode is not a
ing skills are flexed through allowing        be authentic, which means actions speak        precursor to a life on the streets!
choices within limits, e.g. cheese or         louder than words.
peanut butter; red or blue shoes; which                                                               There are some things parents
nighttime story to read. Responsibil-                  Parents are the first, and continue   can do to actively build resiliency. A
ity for choices expands from here into        to be children’s most important teachers!      large international study on youth well-
areas such as managing pocket money,          From an early age they need to create and      being (ADD Health, 1996) outlines four
household chores or caring for pets.          grab “teachable moments, e.g.                  things that help “risk proof” children:
                                              (i) using movies or TV news to initi-          (i) Having high parental expectations
Decision-making improves when                 ate conversations about alcohol and            along with provision of support;
children have opportunities to make           drinking,                                      (ii) Providing homes that are drug and
choices and learn from their mistakes         (ii) playing games to improve awareness        firearms-free;
without being judged or shamed. They          and sharpen good thinking skills e.g.          (iii) Being home at critical times of the
need support and encouragement, but           “What if”… “What if you were home here         day—when children are getting up
not lectures or moralizing when things        with a friend and they said ‘Let’s drink       and coming home from school & bed
do not work out. Neither should they          some of your dad’s gin and then top it         times;
be rescued. When consequences are             up with water?’ What choices do you            (iv) Having family meals together (This
not life-threatening or physically harm-      have? What might be the consequences           is considered particularly important.)
ful, children should bear at least some       for each?” This has the dual advantage
of the weight of the consequences of          of giving you insight into their decision-                 Despite the fact that parents
poor choices. This learning from natural      making capabilities and also subtly lets       today are often extremely busy, they
consequences is a critical part of learning   them know you’re one step ahead!               must continue to show interest in their
independence and developing good                                                             teens’ lives and work at keeping com-
judgment. Unfortunately, parents                        Parents need accurate informa-       munication open. There is truth in the
often must watch patiently while their        tion. Other than hypocrisy, nothing turns      saying that children spell “L.O.V.E.” as
children go “round the mountain” more         away teenagers more than hyperbole or          “T.I.M.E.” The New Zealand Youth 2000
than once. Learning self-responsibility is    exaggeration. Today’s youth are generally      report showed 40% of teens want to
seldom a linear process!                      well-informed. From an early age they          spend more time with at least one
                                              access information through the web and         parent. The research is clear: teenagers
Ability to make sound decisions
                                              school-based health and drug education         are less at-risk when strong family bonds
becomes most important for adolescents
                                              programs like DARE. Parents need to be         are maintained.
because issues are weightier, e.g. dating,
                                              clear about facts before they talk to teens
driving and career choices. As our cul-
                                              about alcohol and other drugs. There are                  When kids approach adoles-
ture makes it almost impossible to keep
                                              lots of helpful resources—pamphlets,           cence, parents must consider some
children completely away from alcohol,
                                              library books, websites such as                strategies for alcohol-related incidents.
parents must accept that all young adults
                                              www.faceproject.org and                        Usually, natural and logical consequences
contend with alcohol at some stage, and
                                              www.teens.drugabuse.gov.                       work well, but the first and foremost
many do so before the legal drinking
age. Good decision-making and ability to                                                     step is active, open communication. For
take personal responsibility are both key
                                                    k
                                                    Parents also need to be realistic.       a “first offense” (e.g. teenager arriving
                                           Adolescents are on the threshold of adult         home intoxicated) parents should wait
factors here.
                                           life. They are working out what they be-          until they are sober and calmly and non-
                                           lieve and who they are and experimen-             accusingly talk with them about it. It
        Values are caught, not taught.
                                           tation is normal. They will make some             may be the teen got out of their depth
The best way to teach healthy attitudes
                                           good and some poor decisions and make             and made a poor decision. Parents can
and habits around the use of alcohol
                                           some mistakes. While it’s important not
is to be a good role model. Teenagers                                                                              continued on page 10

Cares Foundation, Inc.      Spring 2008                                                                                              9
CAH Article continued from page 9


be understanding and perhaps share an           ditional complicating factors.These are:     as well as others. Many adults with CAH
early (repeatable) mistake they also made       •	Increased	risk	of	electrolyte	             feel they have gotten drunk quicker and
with alcohol. This will help teens feel that      imbalance caused by vomiting;              have been hung-over for longer than
parents are for, rather than against, them      •	Increased	risks	of	being	drunk/            their peers.
and that they understand. Feeling upset/          falling asleep and failing to take their
ashamed/distressed about this episode             next dose of medication (which             As do most of us, adolescents learn by
may be the only consequence the teen              should be increased if they’ve             doing and working things out for them-
needs for a first offense along with some         vomited);                                  selves. However it is particularly impor-
guided discussion about what could be           •	Drinking	buddies	may	not	under-	           tant that parents with a CAH teen be
done differently next time. Family strate-        stand their medical needs or may           pro-active about points #1 to #9 as safety
gies might need to be put in place e.g.           also be “under the influence”              issues are magnified for teens with CAH.
“Call us any time and we’ll come and col-         reducing the likelihood of them            One of the big challenges for parents
lect you with no questions asked” (that is,       getting appropriate medical                of teens with CAH is to contain their
until a calmer, more-rested stage.)               intervention.                              anxiety, so they don’t consciously or
                                                •	 Increased	risk	associated	with	           unconsciously restrict teens. (This goes
                                                   unwillingness to wear Medic Alert         for other areas too, not just alcohol). Pro-
         Finally, even for a first or unchar-      disc and the potential of alcohol-        tectiveness is understandable, but teens
acteristic lapse, parents must kindly, but         related accidents/injury. This is         will resent it, especially if it’s because of
firmly, follow through with                                                                                their CAH. As many teenag-
logical consequences. This
is not punishment, but about
                                    “Call us any time and we’ll                                            ers with CAH have already
                                                                                                           grown up with anxieties
providing a learning opportu-
nity, one which requires the
                                     come and collect you with                                             around health and body is-
                                                                                                           sues, it is important that par-
teen to take responsibility for
his/her actions. If the incident        no questions asked”                                                ents act calmly and reason-
                                                                                                           ably. If a parent needs to cry
has involved vomiting and                                                                                  or let off steam, they should
their bed has needed changing, parents                                                       do so in private or seek support from a
should raise this with them on the next           important because a teenager               partner or friend. Talking with a GP can
day and say “John, there are sheets that          requiring emergency help will need         be helpful as can talking with other CAH
need washing from last night. Please make         a CAH wallet card or Medic Alert           parents who have teenagers the same
it a priority to rinse them and put them in       disc to alert ambulance staff.             age or older. It is also very helpful to sig-
the machine. I’d like this done before you        (Also note: should SoluCortef be           nal to your teen’s physician in advance
go to Jack’s this afternoon. Thank you.”          required, ambulances will not              that you would like some support with
Note the importance of neutral, non-ac-           administer it, even when this is           the issue. Depending on the maturity of
cusatory or shaming language, and the             supplied by the patient and                the individual child, this discussion may
power of delivering this with calm, posi-         accompanied by a doctor’s                  need to take place just prior to or during
tive body language. Mini-lectures, interro-       covering letter.                           adolescence.As physicians deal regularly
gation, blaming, shaming especially when                                                     with other teens for whom misuse of
delivered in a highly emotive manner are        Emotional Hurdles                            alcohol can be risky (e.g. diabetics), he
always counterproductive.                       for Parents of CAH Teens                     or she is in a good position to educate
                                                It’s helpful for teens to understand how     a teen about the risks, as well as offer
Alcohol and Teens with CAH:                     alcohol affects their bodies, especially     practical guidelines for healthy drinking
The Extras                                      with a complex condition like CAH. Al-       habits.They have the advantage of being
Many young people make very good                cohol is processed via the liver and the     an independent adult voice, one which a
choices around alcohol and, conversely,         kidneys and anecdotal evidence from          teen may be more willing to listen to or
many adults do not. For parents of teens        CAH adults suggests people with adre-        take advice from at this stage.
who have CAH there are a number of ad-          nal insufficiency do not process alcohol     Another reason for not overstating the

10                                                                                           Cares Foundation, Inc.       Spring 2008
                                                                                                      CAH Article


perils of drinking is that teens with
CAH may worry about upsetting par-
ents, choosing to stay away from home
if they have had one drink too many.
If teens do get drunk or become un-
                                           P450 Oxidoreductase
der the influence of alcohol or other
drugs they need to be where a re-
                                           Deficiency:
sponsible caregiver can keep an eye
on them. Depending on the severity
                                           Another Nonclassic CAH
of the episode, they may require So-
luCortef and their electrolytes moni-
                                           David Brown, MD
tored throughout the next day. They
may need saline or fluids and will         A recently recognized abnormality in steroid biosynthesis, P450
require extra medication as per the        oxidoreductase (POR) deficiency, is discussed in Genetic and Clinical
usual guidelines for vomiting.             Features of P450 Oxidoreductase Deficiency by Rachel R. Scott, MD &,
                                           Walter L. Miller, MD (Horm Res 2008; 69:266-275). This disorder is a
Many CAH teens may feel angry their        distant relative of the much more common form of CAH, 21 hydroxy-
medical condition puts yet another         lase (21OH) deficiency and is clinically far more devastating.
limit on what they can or can’t do.
Peer-acceptance and belonging is so        POR affects the production of a number of enzymes important
important in adolescence and alcohol       for steroid synthesis (21 OH included) and results in a high serum
is so central in many recreational and     concentration of 17-hydroxy progesterone, low serum androgen
sporting events that restriction caused    concentrations and poor cortisol response to ACTH stimulation. In
by CAH can be hard for some to bear.       addition, over 80% of the 50 recognized patients have skeletal abnor-
For some boys, it might mean they
                                           malities known as the Antley-Bixler Syndrome. The most serious of
can’t “hold their drink like a man” and
                                           the bony abnormalities is coanal atresia a condition where the nasal
thereby lose face with peers.They may
be frustrated that friends get drunker,
                                           passages are obstructed. This is serious for newborn babies because
but bounce back quicker than them.         they will suffocate if they can’t breathe through the nose. Coanal
This anger needs to be acknowledged        atresia can prove fatal if not recognized and treated soon after birth.
and talked about.                          The remainder of the skeletal abnormalities are serious but not life-
                                           threatening and include midface hypoplasia, craniosynostosis, fusion
Finally, while CAH presents extra chal-    of the radius and ulna, femoral bowing and femoral fractures. The
lenges for young drinkers, parents         manifestations of the abnormal steroid metabolism include female
must not focus on these to the exclu-      virilization (clitoromegaly and hypoplastic labia majora), male under-
sion of other alcohol-related risks. For
                                           virilization (penile hypoplasia and crytorchidism), increased risk for
young teens especially, the disinhibi-
                                           adrenal crisis and, theoretically, abnormal drug metabolism by the
tion caused by alcohol makes good
                                           liver.
decision-making about driving and
dealing with sexual urges or advances      Not everyone with Antley-Bixler Syndrome has POR. However, if a
very difficult. Use a variety of means
                                           newborn baby has these skeletal abnormalities and a high serum
to get the message across—older rela-
                                           17-hydroxyprogesterone concentration on the newborn screening
tives or family friends whom teens
                                           test, POR is a possible diagnosis. In addition, an older child with a
like and trust, books or videos, pam-
phlets or websites designed for teens      number of skeletal problems fitting the Antley-Bixler Syndrome should
which discuss these issues.                be tested for POR.



Cares Foundation, Inc.      Spring 2008                                                                              11
Support Groups




  Welcome
  New Staff
  members
  Please join us in welcoming
  the newest members of the
  CARES Foundation team.
  Suzanne Levy
                                                                                                       CARES FOUNDATION
  Program Manager
                                                                                                Support Groups are active in
  Ellie Avitan                                                                              most states and several countries:
  Development Director                                                                                   UNITED STATES
  Odaly Roche                        Classical Women’s Group                                   ALABAMA, ALASKA, ARIZONA,
  Administrative Assistant/          A place for women with classical CAH to talk                   ARKANSAS, NORTHERN
  Office Manager                     about the issues that affect them.To join,visit              CALIFORNIA, SOUTHERN
                                     http://health.groups.yahoo.com/group/                       CALIFORNIA, COLORADO,
  Amelia (Mia) Moody                 classicalwomen/                                                        CONNECTICUT,
  Adult Support                                                                                             NEW ENGLAND,
                                     CAHSisters2                                                FLORIDA,GEORGIA, IDAHO,
                                     A place for adult women with late-onset CAH.                ILLINOIS, INDIANA, IOWA,
                                     To learn more about this group, go to                            KANSAS, KENTUCKY,
                                     http://groups.yahoo.com/group/CAHSISTERS2                          LOUISIANA, MAINE,
                                                                                                            MID-ATLANTIC,
                                     CARES Spanish Group                                          MARYLAND & DELAWARE,
We need volunteers to help run       A Yahoo Group for the Spanish-speaking CAH                    MINNESOTA, MISSISSIPPI,
support groups in the following      community. To learn more and join, go to                        MISSOURI, NEBRASKA,
states:                              http://mx.groups.yahoo.com/group/                                NEVADA, NEW JERSEY,
Hawaii	•	Massachusetts               hiperplasia/                                                            NEW MEXICO,
Montana	•	New	Hampshire                                                                                 NEW YORK (NCAH),
                                     Greek CAH Groups                                                  NEW YORK UPSTATE,
North	Dakota	•	Rhode	Island
                                     Places for Greek speaking families and                              NORTH CAROLINA,
South	Dakota	•		Wyoming
                                     individuals affected by CAH.To learn more                OHIO, OKLAHOMA, OREGON,
Please contact Suzanne at            and join, visit http://groups.yahoo.com/group/                 PENNSYLVANIA, SOUTH
suzanne@caresfoundation.org          cahgreece and http://groups.msn.com/                    CAROLINA, TENNESSEE, TEXAS,
or (toll free) 866-227-3737          cahgreece                                                 UTAH, VERMONT, VIRGINIA,
                                                                                               WEST VIRGINIA, WISCONSIN
                                                                                                     INTERNATIONAL

      NEXT CARES CONFERENCE
                                                                                                 BRAZIL, CANADA, CHILE,
                                                                                            COLOMBIA, ECUADOR, FRANCE,
                                                                                                GREECE, HUNGARY, INDIA,
     The next CARES Conference will be Winter or Spring of 2009. We are                         MEXICO, SYRIA, URUGUAY
     re-working our model and looking to make it even better (and maybe longer).
     Please email Suzanne Levy at suzanne@caresfoundation.org if you would like                              For information,
                                                                                              please call us at 866-227-3737
     to help with the planning committee.
                                                                                                 or visit our website: www.
                                                                                                        caresfoundation.org

12                                                                                     Cares Foundation, Inc.   Spring 2008
                                                                                                                                News



Pfizer, with assistance
from CARES Foundation,
has developed an                               CARES Meetup
important tool for                             at White Post
healthcare professionals
to use with patients who may
                                               FarmsCARES Foundation’s NY City Metro Area Support Group is pleased to
experience an acute adrenal crisis:               announce plans for a Meetup at White Post Farms in Melville, New York.
The Solu-Cortef® Care Kit.                                     Bring the kids and enjoy a day in the country!
The care kit contains the following                         Date: Saturday, June 7, 2008 • Time: 11:00 am
components:                                               Location: White Post Farms, 250 Old Country Road,
•	 Patient	brochure:	Information	about		                     Melville, NY 11747 • Host: Deborah Brown
   AI, including general education, crisis      For more information, please contact CARES Foundation NY City Metro Area
   prevention tips and an “In Case               Support Group Leader Deborah Brown at 516-808-9020 or deborah.annie.
   of Emergency” form                             brown@gmail.com Please check website for $2.00 off coupons on up to
•	 Injection	brochure:	Step-by-step	on		        four admissions. Rain date: June 14th. We will notify you the night before or
   how to administer Solu-Cortef                   early morning on June 7th. FYI:The Farm does not accept credit cards.
   in case of an adrenal crisis
•	 Physicians	can	order	kits	and	obtain		                Animal Farm • Gourmet Farm Market
   samples of Solu-Cortef by calling                  Garden Center • Train Rides • So much more!
   1.877.465.6437 or contacting Pfizer
   at www.pfizer.com
                                             CARES Support Group Family Fun Day
                                             If you would like to get to know other families affected by CAH, join the CARES
                                             Foundation Support Group for SC for the Family Fun Day to be held on Saturday, May
                                             17th from 11 am—2 pm. Support Group Leaders, Kevin and Johnette Kinard of 1988
                                             Mt. Pilgrim Church Road, Prosperity, SC will host this event at their home. Please
                                             contact them if you would like to attend an afternoon of fun, food and fellowship.
                                             Hope to see you and your family there!!

                                             We will have inflatables, games for all and a picnic potluck lunch.
                                             Please bring your favorite picnic lunch item to share! Home Phone 803-364-9945
                                             or email to kevin1@backroads.net.


                                                                                             Any communication from CARES Foun-
  NEWS ABouT SoLu-CoRTEF®                                                                    dation, Inc. is intended for informational
  Pfizer’s Solu-Cortef Available at Reduced Cost                                             and educational purposes only and in no
                                                                                             way should be taken to be the provision
  Thank you to Pfizer for making Solu-Cortef available at reduced cost to those in           or practice of medical, nursing or pro-
  financial need through their Savings Card Patient Assistance Program. Cortef con-          fessional health-care advice or services.
                                                                                             The information should not be considered
  tinues to be available both free and at reduced cost through the savings card,             complete or exhaustive and should not
  based on level of individual financial need. Call 1-800-707-8990 to apply.                 be used in place of the visit, call, con-
                                                                                             sultation or advice of your physician or
  Solu-Cortef and Insurance Denials                                                          other health-care provider. You should
  CARES Foundation has been receiving reports that patients are having trouble               not use the information in this or any
                                                                                             CARES Foundation, Inc. communication
  getting their insurance to cover Solu-Cortef. This is a new phenomenon, and we             to diagnose or treat CAH or any other
  would like to hear from you regarding why it was denied and by which insurance             disorder without first consulting with your
  companies. E-mail us at: info@caresfoundation.org                                          physician or healthcare provider. Any
                                                                                             referral to physicians is provided as a
                                                                                             courtesy only.



Cares Foundation, Inc.     Spring 2008                                                                                                 13
Teen Corner




Volunteer
Work in
Costa Rica
By Nick Mann

My December trip with International
Student Volunteers (ISV) to Costa Rica
started with a 12-hour flight to LAX
where we then caught a flight to the
capital city San Jose. During the flight I
made an effort to get to know the other
students as I’d be working closely with
them over the next month. On leaving
Christchurch, I knew no one.

Once in Costa Rica the forty of us were
split into our pre-chosen work projects,
ten people in each team. We went our                                                    leatherback came ashore they laid around
separate ways to the various places                                                     sixty eggs and another thirty yolkless
we’d be living and working for the fort-                                                eggs, which helped ventilate the nest and
night’s work—either eco-conservation                                                    divert predators from the ‘real’ eggs. I was
projects or community development.                                                      lucky enough to see two leatherbacks
I headed to Ostional beach, located on                                                  nesting. It was an amazing experience
the north west coast of Costa Rica,                                                     watching a turtle with a carapace length
where I was hosted by a local woman                                                     of over 155 cm laying eggs. The excite-
who lived with her granddaughter. I          their backs.) Our aim was to locate
                                                                                        ment was further emphasized by the
recall being shocked we were not allowed     nesting turtles, take measurements and
                                                                                        fact they are severely endangered, that is,
to flush toilet paper and was pleased I      place a locating chip in them if they
                                                                                        98% of the original population has gone.
was not a fussy eater. (Beans and rice       did not already have one, collect eggs
were the staple diet. One morning I was      as they were being laid and relocate
                                                                                        I battled initially with my fear of insects
served condensed milk, peanut butter         the eggs to the hatchery. The hatchery
                                                                                        and spiders, so was pleased when I ad-
and crackers for breakfast.)                 was built on the beach and served as
                                                                                        justed because the spiders were colossal.
                                             a safe house to protect the relocated
                                                                                        I learnt an efficient technique method,
My job in Ostional was patrolling the        eggs from both non-human and human
                                                                                        which we called the ‘jandal smack’ meth-
beach at night (11 pm to 6 am) in order      threats. Hatchery duty was another of
                                                                                        od. Scorpions and snakes were not such
to find beached turtles coming ashore        my jobs, which simply meant my sitting
                                                                                        a problem, though I did see a few. (The
to nest. Four species of sea turtles nest    on the beach and keeping guard against
                                                                                        former did not respond to jandal smack-
on Ostional beach, but our primary           poachers stealing eggs to sell and keep-
                                                                                        ing and my host would get out a machete
concern was the Leatherbacks, or             ing crabs at bay. Leatherback eggs are
                                                                                        to deal with them.) I was also excited to
‘boula’ in Spanish. (You can tell a leath-   approximately 6 cm in diameter and
                                                                                        see sloths, raccoons, squirrels and iguanas.
erback because they don’t have the           spherical. They don’t have a hard shell
                                                                                        Squirrels are definitely as cute in real life
usual ‘panels’, but five long ridges down    and resemble a ping pong ball feel—
                                                                                        as they look in pictures.
                                             only feel slightly softer. Each time a

14                                                                                       Cares Foundation, Inc.       Spring 2008
After these two weeks of work
all the Ostional teams reunited            CAH Studies
and then the ‘adventure’ tours
began. Forty percent of us
were Kiwis and the rest were                        CAH and Osteoporosis Screening Study
Aussies. We started the tour
with an amazing white water                           UNC Chapel Hill, North Carolina
rafting trip on one of the top
ten rapids in the world. Wow!              WHO: Children with CAH who are 8-12 years old (bone age <14 years) and are
It was exciting beyond descrip-            still growing. Siblings (6-14 years old, bone age <14 years old) of those children
tion and for me it was definitely          with CAH who otherwise meet the same eligibility criteria except that they do
the best part of the whole tour.           not have CAH and are not on glucocorticoids.
We went on numerous nature
hikes and guided tours through
                                           WHY: Although cortisol replacement is essential to treat children with CAH,
                                           there is the potential risk of over-treatment with glucocorticoids that can result
different ecosystems. Costa Rica
                                           in abnormal weight gain, decreased linear growth and, more recently reported
is known for its rainforests and
                                           in adults, the risk of osteoporosis. We are now testing if there exists a risk for
endangered species. We stayed
                                           osteoporosis in children with CAH and if this risk is related to the dosing of
in some very interesting eco-
                                           glucocorticoid used, as would be expected with any medical condition in which
motels, some in the rainforest
                                           steroids are required for long-term treatment. We are also examining if the
itself. Other activities included
                                           subtype of CAH contributes to the risk for osteoporosis.
rappelling down an 80m water-
fall, natural hot pools, horse rid-        WHERE: Children will be enrolled in the study at the General Clinical Research
ing and sky trekking. Sky trek-            Center at the University of North Carolina, Chapel Hill.
king meant flying through the
jungle canopy on giant flying              WHAT: Your child would have:
foxes up to 1000m in length. At            1. Bone Age X-ray
times, the cables could be up to           2. DXA scans (to screen for osteoporosis and for subtle spine fractures).
200 metres above ground level              3. Special X-ray of his/her arm to look at the effects of glucocorticoid dosing
and could produce speeds of                   (Cortef, for example) on bone structure itself
80 km/ph. It was fantastic.                4. Blood and urine tests to determine the degree of his/her “control” of CAH
                                           5. Blood test for genotyping for all children in the study. In this way,“control”
In my time away I pushed my-                  siblings can find out if they are “unaffected” or “carriers”.
self to my limits as much as pos-
sible. I valued the ‘out of com-           WHEN: This would all occur in a one-time visit (3 hours) for your child with CAH
fort zone’ experiences and the             and/or sibling.
great new friends I made. My
medical condition didn’t mini-             HOW MUCH: The clinical visit, including laboratory testing, radiologic evaluation
mise any of my enjoyment or                and physical exam will be paid for by this protocol. Overnight accommodations
participation in any activities.           can be arranged, a rental car to/from the airport and parking at UNC will be
Overall it was the best time of            covered. Travel assistance is possible (please inquire for details). There is a $50
my life and I’m grateful to mum            compensation provided for incidental costs for each child enrolled.
and dad for making the whole
trip possible.                             For more information, please contact:            or
                                           Karen J. Loechner, M.D./Ph.D.                    Roxanne Schock, CDE/RN
Nick Mann, 21, a student at a              Director, UNC Pediatric Osteoporosis Clinic      Study Coordinator
New Zealand University, is studying        Assistant Professor, Pediatric Endocrine Unit    (919) 966-0428 (voice mail)
psychology. Nick has SWCAH.                (919) 216-5946 (*pager)                          (919) 966-0971 (fax)
Reprinted with permission from             (919) 966-4435 ext. 224 (voice mail)
New Zealand CAH support group              (919) 966-2423 (fax);
newsletter March, 2007



Cares Foundation, Inc.       Spring 2008                                                                                         15
CAH Studies


MODIFIER GENES IN
21-HYDROxYLASE DEFICIENCY                                Classical Adult Women’s Quality of Life Study
STUDY
Dr. Richard J. Auchus is conducting a study to          CARES Foundation and Dr. Sheri Berenbaum from Pennsyl-
identify other genes that modify the clinical and       vania State University have launched a quality of life study of
biochemical variations in participants with CAH         women with classical CAH. It is open to women with classical CAH
due to 21-hydroxylase deficiency (21OHD).The            (Salt wasting and simple virilizing forms) over the age of 18, and
study is open to participants who are at least 18       entails answering a written survey. If you have questions about
years of age, taking less than 15 mg/m² hydro-          the study or want more information, please contact Kelly Leight at
cortisone per day for at least 4 weeks, have two        1-866-227-3737 or email kelly@caresfoundation.org
“severe” alleles excluding the A/C656G muta-
tion and will consent to genetic testing, if neces-
sary. Participants will be admitted to a research
                                                      NCAH study at Children’s Hospital of Los Angeles
                                                      The Division of Endocrinology at Children’s Hospital Los Angeles is currently
center in either Dallas or New York for a period
                                                      recruiting subjects for a research study aimed at determining the stress-fighting
of 48 hours. For questions about the study or
                                                      ability in subjects with Non-classical Congenital adrenal hyperplasia (NCAH)
more information, please contact Dr. Richard
                                                      and comparing these responses to those in subjects with Classical Congenital
Auchus at (214) 648-6751.
                                                      Adrenal Hyperplasia (CAH) and those in carriers of either disorder. If you have
TELEPHONE INTERVIEWS:                                 NCAH, CAH or are a family member (parent or sibling) of someone with either
WOMEN DIAGNOSED WITH                                  disease, and are interested in participating in this study, please contact:
CONGENITAL ADRENAL                                    Dr. Maria Karantza (323) 644-8705 or Dr. Mitchell Geffner (323) 669-7032.
HYPERPLASIA
Researchers at Lehigh University’s Counseling           New Additions to Medical Advisory Board continued from page 5
Psychology Program are currently looking for
women diagnosed with congenital adrenal hy-
perplasia (salt-losing or simple-virilizing types),
                                                        Alejandro Diaz, M.D.
aged 25-45, who would be willing to be inter-           Dr. Alejandro Diaz graduated from La Uni-
viewed over the phone for one hour as part              versidad del Valle in Cali, Colombia and was
of a confidential, qualitative investigation on         trained in general pediatrics at Miami Chil-
health-related quality of life, mental health con-      dren’s Hospital. He completed his special-
cerns and counseling. As treatment for CAH              ization in Pediatric Endocrinology at New-
evolves, placing more emphasis on individu-             York-Presbyterian Hospital/Weill Cornell
als and calling for the use of multidisciplinary        Medical College. He remained at Cornell as
treatment teams, we are eager to hear women’s           an attending assistant professor in Pediatric
insight on their experiences and recommenda-            Endocrinology.
tions for counselors. All participants who take
part in the phone interview will be entered             Dr. Diaz’s special interests are in the care of children with short stature,
into a random drawing for a $100 Visa gift card         thyroid disorders, disorders of puberty, congenital adrenal hyperplasia, obe-
(odds of winning roughly 1 in 12). This study           sity, and diabetes. He has been involved in clinical research of patients with
and participant request has been approved by            certain genetic conditions concerning growth failure and small birth
Lehigh University’s Institutional Review Board.         weight (i.e. Bloom’s syndrome). He is also part of the multidisciplinary
                                                        team involved in the care of individuals with congenital adrenal hyperpla-
If you would like to hear more about the study          sia, Fanconi’s anemia, Bloom’s syndrome, and thalassemia.
please contact:
Matthew Malouf—malouf@lehigh.edu                        Dr. Diaz has participated in research on congenital adrenal hyperplasia.
(484) 532-7338                                          Currently, he is involved in the development of research protocols on
                                                        overweight children to help promote healthy weight and lifestyles.


16                                                                                          Cares Foundation, Inc.       Spring 2008
                                                                                                                 Advocacy



                                                                         NEWBORN SCREENING

   Newborn Screening
                                                                         INITIATIVES IN CANADA,
                                                                         MEXICO AND

   Saves Lives & GINA                                                    THE UNITED KINGDOM
                                                                         CARES members and advocacy partners—Perkin
                                                                         Elmer, Canadian Organization for Rare Disorders,
   While great strides have been made in expanding newborn test-         SaveBabies Canada, and others to the north and
   ing in the United States over the past decade, there are still huge   south of the United States—have been working
   inconsistencies in screening programs and follow-up from state        hard together over the past several months on new-
   to state, making whether a baby dies or lives, survives or thrives    born screening expansion initiatives in both Canada
   largely dependent on where they are born. On April 24, 2008,          and Mexico.
   all that changed when President Bush signed the Newborn
   Screening Saves Lives Act (S.1858/H.R. 3825) into law.                In Canada, our focus has been on expansion of
                                                                         screening in British Columbia with direct appeals
   This landmark legislation will save thousands of babies across        to the Minister of Health and the Newborn Screen-
   America each year from dying unnecessarily or suffering               ing Advisory Committee. The latest word is that an
   mental retardation and severe disability from a disease that can be   expanded panel including CAH has been proposed
   screened for at birth as part of a comprehensive screening panel      and is awaiting budgetary approval. Special thanks
   allowing life-saving early intervention. The Newborn Screening        to members Diana Aspen and Dr. Jerilynn Prior in
   Saves Lives Act provides funding necessary for states to expand       British Columbia as well as Support Group Leader
   and improve their newborn screening programs as well as ensure        Alison Weatherall for all the letters, phone calls and
   appropriate follow-up, treatment and education.                       dissemination of information they have been doing.

   Thank you to all of the CARES Community for your hard work            From Mexico we have just received word that
   and dedication in our newborn screening advocacy efforts. With-       the Mexico Ministry of Health is in the process of
   out your voices none of this is possible. As we move forward with     putting together a newborn screening pilot study
   initiatives in Canada, Mexico and the United Kingdom, we look         expanding screening from one condition to four
   forward to the continued support of CARES Foundation members          including testing for CAH.
   and saving the lives of our children, our future, one heel prick at
                                                                         Over the past several months, we have been gather-
   a time.
                                                                         ing information on newborn screening in the UK
                                                                         and building relationships that may help us achieve
   Additionally, after 13 long years, on April 24, 2008, the Genetic
                                                                         the goal of expanded screening in the UK, including
   Information Non-Discrimination Act (GINA) unanimously passed
                                                                         testing for CAH. While at first it appeared there was
   the Senate clearing the way for this landmark legislation’s
                                                                         little to no hope of CAH testing starting in the “near”
   signature into law by President Bush. Thanks to all of you who
                                                                         future, we have seen a shift in thinking and forward
   worked so long and hard on this most important initiative so no
                                                                         movement.
   family in the United States will need to fear discrimination based
   on genetic information in employment or health insurance cover-       If you are a resident of or have family/friends in
   age again.                                                            Canada, Mexico or the UK, and are interested in
                                                                         bringing your story and efforts to our newborn
                                                                         screening expansion initiatives—including test-
                                                                         ing for CAH—please contact Gretchen Alger Lin at
                                                                         gretchen@caresfoundation.org. You can help us
                                                                         save lives!


Cares Foundation, Inc.    Spring 2008                                                                                        17
Personal Stories




 by Terry Owen, Bootle Times                                    other powerlifters every Sunday at Armley Prison gym in
                                                                Leeds.
 Martin Sands has returned with four gold medals from           Not only do Martin and his fellow team-mates have the full
 the Special Olympic Games in Shanghai.                         support of their coaches, but also the inmates. They have
                                                                taken a great interest in the group and are involved in helping
 The 27-year-old, whose family lives in Bootle, had always      to coach the Special Olympians.
 dreamed of becoming a professional footballer since he
 was five.                                                      Martin’s training certainly paid off. He returned home to
                                                                Liverpool to show his grandad, Peter McParland, who lives in
 Sadly, he was soon diagnosed with congenital adrenal           Lincare Lane, Bootle, his four gold medals after triumphing
 hyperplasia—a condition that af-                                                                in every category—bench
 fects the adrenal gland and causes                                                              press, deadlift and squat—
 abnormalities in the production                                                                 as well as winning the over-
 of hormones, resulting in the early                                                             all gold at the 12th Special
 appearance of male characteristics.                                                             Olympics World Summer
 After undergoing treatment for the                                                              Games.
 condition, Martin’s leg bones were                                                                 Proud mum, Moria said: “In
 left bent and a series of operations                                                               competition, he does suffer
 also left him with pain in his knee                                                                from nerves but his coach
 joint—ruining any dreams of be-                                                                    Jane Haig has worked with
 coming a footballer when he was                                                                    him on ‘internalising’ the
 still a teenager.                                                                                  fear and using it to strength-
 But he refused to let it keep him                                                                  en his performance.”
 from taking part in sports and                                                                     “You can really see the
 embarked on a career as a power-                                                                   determination on his face.
 lifter back in 2003.                                                                               You can see him thinking ‘I
 Martin attended a mainstream                                                                       can do it’. He gives so much
 school, then went on to complete                                                                   concentration. Even if he
 a catering course. He studied per-                                                                 doesn’t make it, he knows
 forming arts with the ‘Mind the Gap’                                                               he has the power to do it.”
 Theatre Group and at Thomas Danby College, Leeds.              “Martin has a strong sense of responsibility towards his team
 In 2005, he won a silver and three bronze medals at            and is most often the one who gives most support in train-
 the Special Olympics GB National Games in Glasgow—             ing sessions to other powerlifters, particularly those who are
 his first major competition, which also allowed him to         visually impaired.”
 qualify for a place at the World Games.                        Lawrie McMenemy, chairman of the Special Olympic Games
 His powerlifting personal bests before the World Games         Board, said:“The World Games is the pinnacle towards which
 stood at 140 kilos for the squat, 180 kilos for the deadlift   all athletes strive. This is a chance for Special Olympics
 and 90 kilos for the bench press.                              athletes to showcase their talents on a worldwide level,
                                                                proving they deserve just as many accolades as other world-
 Martin’s upper body strength—at which he works hard            class athletes.”
 —makes him a natural for powerlifting. He trains with                         reprinted with permission of Trinity Mirror Newspapers

18                                                                                       Cares Foundation, Inc.         Spring 2008
                                                                                                           Personal Stories



             The Day that Lana Elizabeth Was Reborn
                                                        By Charlene S.Tomic

It was a cold morning in Houston, TX,                                                      in my family like this, it must be your
February 6, 1974. Around 5:30 A.M., I                                                      side”. He was now relieved that it had
began having labor pains. My husband                                                       not been his “fault” with his steroid us-
took me to Methodist Hospital. Being                                                       age.
my first child, the labor pains seemed
so painful, but the excitement of the                                                      I, however, remembered my Mendelian
baby numbed it all. During delivery,                                                       genetics. I asked what type of inheri-
I was drowsy. At that time, sedatives                                                      tance. They explained that it was auto-
were generally administered, and I                                                         somal recessive. Again, his family was
barely heard the doctor tell me that                                                       at a loss. I did not care what they did
I had had a baby girl. I was very                                                          or did not understand nor did I care
excited, but could not stay awake.                                                         about the gender of the baby. I wanted
Several hours passed and the pedia-                                                        to know what the “life-threatening” con-
trician I had elected, a very nice and                                                     dition was and how to cope with it. I
extremely wonderful man whom we                                                            asked them my most important ques-
used for the next 25 years, approached                                                     tion: “What is the best that we could
my bedside to let me know that the                                                         expect in the future and what is the
baby was fine, but had “some type of                                                       worst”. They explained.
genital” problem. I immediately asked
                                                                                           From that point on, I was determined
if she had hermaphrodism. He was
                                                                                           to learn any and everything about CAH
somewhat impressed that I had not
                                              Charlene and Lana                            that I could. This was not an easy feat
used the ignorant term “morphodite”
                                                                                           considering there was no internet at
but, nonetheless, went on to tell me          I later learned that my husband had
                                                                                           that time, and certainly no books writ-
that she did not, but that there was          used metabolic steroids, unbeknownst
                                                                                           ten for the lay public. This began years
most assuredly a problem. He told me          to me, to bulk up.
                                                                                           of frequenting medical school book
that she had been rushed to the ICU at
                                               A day later, we were introduced to an       stores in the city by pretending to be
Texas Children’s Hospital. Needless to
                                              endocrinologist who told us to get pre-      a med student, looking up everything
say, that part scared the life out of me.
                                              pared to learn that the baby was not a       from Addison’s disease to ambiguous
Why would she need to go to the ICU?
                                              girl, but a boy. I was upset and felt that   genitalia of all sorts. My main concern
Later that evening, I saw her, a beautiful,   something was amiss. However, my             was the health of the baby who we
dark-haired baby girl, whom I named           main concern was the baby’s health.          named David Brian.
Lana Elizabeth. We were told that her         The doctor went on to explain that they
                                                                                           Needless to say, when friends call you at
condition was an endocrine one and            had done a buccal smear on the baby
                                                                                           the hospital, the first question is never
had caused the ambiguous genitalia.           and had found not a single Barr body.
                                                                                           about how the baby is doing, nor its
However, they were still not sure what        They also explained that “he” had a very
                                                                                           weight, but simply—is it a boy or girl.
it was and would do further testing. We       life-threatening condition known as
                                                                                           It was fairly difficult trying to convince
were asked if either of us had used ste-      congenital adrenal hyperplasia and that
                                                                                           friends that I had never said it was a girl
roids. I knew that I definitely had never     it was inherited. My husband’s family
                                                                                           and that perhaps I had been drowsy if I
used anything in my life, not even birth      was flabbergasted. They had no grasp
                                                                                           had done so.
control pills. I did everything to stay       whatsoever on the situation. My hus-
healthy, eat well, attended every ob-gyn      band began accusing me with state-
visit, etc.                                   ments like,“there’s never been anything                          continued on page 20

Cares Foundation, Inc.      Spring 2008                                                                                            19
Personal Stories


Continued from page 19                        tion, projectile vomiting vs. spitting up,    My ex-husband and his family could
A urologist was sent in the next morn-        etc. We were released from the hospital       not comprehend this and were furious
ing to explain to us how the boy might        after 2 weeks.                                with the doctors. He wanted to sue. I
require genital reconstructive surgery                                                      can certainly see the justification in this
as the genitalia were certainly not typi-     During that time, my husband walked           in hindsight. Imagine having raised her
cally male and how easy it would be           off and left us alone. He could not cope      as a boy with subsequent surgery to
to raise him. My own feelings were            with the confusion. I had no job, as I had    make her “male” and years of hormone
that it was not true. I felt deep inside      quit my job about one month before de-        therapy. However, the fact that she was
that raising a girl with ambiguous            livery, and, at that time, there were few     alive was all I cared about. I would do
genitalia would certainly have been           social services to help out with my bills,    everything to keep her healthyand that
easier. It is obviously easier to “take       not to mention the cost of the medi-          was all that mattered to me.
away” than to “add” when it comes to          cines and the subsequent visits to Texas
reconstructive surgery.                       Children’s. My maternal aunt, who was         That was the day that Lana Elizabeth
                                              like a mother, moved us in with her           was reborn.
My ob-gyn doctor, another wonderful           temporarily.
                                                                                            My husband and I subsequently
man whom we also used for the next 25                                                       divorced and I proceeded to get
years and who delivered all my children                                                     another job when she was 3 months
and grandchild, came in shortly after         They laughed                                  old. I tried many nurseries with
the urologist left. He seemed depressed.
He said that all his colleagues had           and told me that                              disastrous results. The nurseries of the
                                                                                            1970’s were notoriously incompetent
ridiculed him, asking how, after years of
being a gynecologist, he could not tell       was silly and not                             and unregulated. I eventually found a
                                                                                            wonderful one where they listened to
a girl from a boy. He said, “I just know
it is a girl.” I told him that deep inside,   necessary at all,                             me and knew what to do in an emer-
                                                                                            gency. But, while searching through
I felt the same way and asked him if they
had not been remiss in basing their find-     as the buccal                                 the mess, one of the nurseries caused
                                                                                            her to become severely ill with fever
ings solely on a buccal smear. I asked if
there was any type of blood test for sex      smear was very                                and vomiting. When she was about 6
                                                                                            months old, I picked her up from the
determination. Luckily, even back then,
there was.
                                              accurate.                                     nursery. Her little lips were so dry that
                                                                                            they were actually sealed. I could not
                                              Then we got the call. The doctors had         open them to place even a drop of
I asked the endocrinologists to please        something “very important” to tell us. I      water. She was listless and going into a
run a blood test for sex chromosomes.         was terrified. Could David have another       coma. So I rushed to the ER. The pedia-
They laughed and told me that was silly       medical problem, heart murmur, etc. I         trician I so trusted kept telling me over
and not necessary at all, as the buccal       knew that many defects are associat-          the phone to wash her down. As much
smear was very accurate. I would not          ed with other problems and was very           as I trusted him, I did not that night.
back down. I demanded that they do it.        fearful. My husband met me at their of-       When we arrived, a young intern said,
They complied.                                fices. We were told that, indeed, I and       “this is quite impressive, I don’t know
                                              my ob-gyn were correct. The blood test        why your doctor would not have told
“David Brian” and I were at TCH for two       revealed XX chromosomes, a girl. I was        you to rush here. It is a good thing
weeks as I learned from the nurses how        ecstatic. No matter how difficult this        you did.” She was thrown into a tub of
to take care of him, how to administer        switching back and forth had been, she        ice and I was pushed out. I cried and
the cortisone injections.They placed the      had no further medical problems. She          prayed. I had never been that scared.
DOCA pellet in his back which, I was          would require eventual genital surgery        She was then admitted and for 2 days,
told, would last 6 months and would           and, of course, much monitoring of her        she did not respond.The doctors asked
need replacement. I learned what to           condition.                                    permission to run all tests including
look for such as symptoms of dehydra-                                                       meningitis, etc. Their final diagnosis

20                                                                                         Cares Foundation, Inc.      Spring 2008
                                                                                                         Personal Stories


was E. coli which they felt was “no big                                                     She was a beautiful, happy child
deal” and “natural” to our systems. Look-                                                   growing up, listened to me about
ing back on it, it was the worse possible                                                   coming in from the outdoors when
diagnosis a child with CAH could have.                                                      her fat little cheeks became too red.
While normal babies barely survive E.                                                       She was outgoing and knew her con-
coli, she was at a real disadvantage. I                                                     dition well. She helped out with her
stayed by her side at the hospital. Two                                                     baby sister and 2 baby brothers. The
days after being unresponsive, I awoke                                                      only problem she ever gave me was in
to the most wonderful words, “look                                                          high school, trying fit in with the “in
mommy, a twuk.” Lana was looking out        Lana, husband and 2 kids—all grown up!          crowd” and losing too much weight,
the window at a truck in the hospital                                                       dropping to 89 lbs. I explained to
parking lot. Thank God, she recovered       me and to make sure they called me with         her that she needed the extra weight
from that horrible ordeal.                  any fever or vomiting.                          to maintain her fluid/electrolytes in
                                                                                            case of any vomiting and that this
Needless to say, I also had to endure       I remember spending the next months             anorexia along with CAH could pos-
weekends of worrying about Lana             preparing her formula with “extra” salt         sibly delay her puberty by being too
when her father would pick her up for       added. We attended every doctor visit we        thin. I changed her to another school,
visitations. Did his family understand      were given. She had blood drawn from her        and, luckily, she gained up to 135 lbs.
the problem? Would they call me at the      tiny heel as an infant, and I gave her injec-   by her senior year.
hint of dehydration as I had asked? I had   tions until she was about 10 years old and
all sorts of notes to pass out to them      able to take Prednisone. We spent years         Today, Lana is 33 years old and a
and the nursery, which I myself com-        having DOCA pellets replaced and many           beautiful lady. She is a cardiology
posed concerning the Do’s and Don’ts        subsequent nights at the ER with illnesses,     R.N. and has a daughter who is 14
of CAH as there was no official list at     fever, dehydration necessitating I.V.’s as      and a son who is 2 years old. She
my disposal as there now is everywhere      well as that horrible incident where she        does not seem to have suffered any
on the internet. I had to depend on his     contracted the E. coli. She eventually had      untoward psychological effects at all
family to have the local doctor adminis-    her vaginal reconstruction at 18 months,        from being “slightly different” in her
ter her shots while she was away from       and all went well.                              childhood and is doing great.



      The purpose of this story may be obvious, but...
     1. Follow your “motherly” instincts even while dealing     ER of a highly “acclaimed” Houston hospital for nausea
     with supposed expert clinicians. Think of the pro’s and    and stomach virus. They would not listen to her own
     con’s of what is being relayed to you and do what you      directions to administer Solucortef or even give her ice
     think is right.                                            chips to suck on. The doctor seemingly knew nothing
                                                                about CAH.You would think he would at least be famil-
     2. Don’t worry if you are called “over protective” by fam- iar with an adrenal crisis. She was charged $1,000 and
     ily/friends/medical personnel. To me, there is no such never given a thing. Luckily, she survived that.
     thing as “over protective”. A mother is either protective
     or negligent.                                              4. Find other families and organizations (like CARES)
                                                                who can share stories with you. At the time Lana was
     3. Question everything you are told until you fully un- born, the accepted view was that mothers should not
     derstand. That includes even modern-day doctors who meet each other as they could give out “false informa-
     “should” know their medicine, but are woefully ignorant tion”. Believe me, there is nothing better than to know
     as we found out as recently as 2005. Lana went to the there are other people out there who understand.



Cares Foundation, Inc.     Spring 2008                                                                                          21
CAH article continued from page 1


predicted adult height, although AIs     delayed BA progression also improved In conclusion, AIs may be useful in improv-
could have other hormonal and meta-      the average predicted adult height in ing final adult height in children with de-
bolic effects. Most of the studies are onthe testosterone and letrozole group. creased growth potential and advanced BA.
boys with few reports on letrozole use                                             The treatment with AIs in children is still
                                         In a study with no control group, letro- not FDA approved. Therapy should be tai-
in girls.The studies that have been done
                                         zole was given to 24 males with vari- lored for the needs of individual patients
show improvement of final adult height
                                         ous endocrine disorders and associated and carefully monitored for potential side
prediction and delay in BA advance-
                                         short stature. This treatment resulted in effects. The AIs could be used either alone
ment.
                                         an increase in predicted adult height or in combination with other hormonal
One cross-over study on 28 children and slowed down BA advancement. therapy. Parents should be thoroughly in-
                                       5

with CAH reported better control of The average duration of letrozole treat- formed about potential benefits and risks of
linear growth, weight gain, and bone ment was 12.29 months7.                       AI treatment. Additional controlled clinical
age on a four-drug treatment regimen
                                         In another uncontrolled study on 19 trials are needed in order to prove the long
containing an older AI (testolactone),
                                         girls with endocrine conditions associ- term safety and effectiveness of AI therapy
an antiandrogen (flutamide), fludro-
                                         ated with short stature and/or advanced in the pediatric population.
cortisone, and reduced hydrocorti-
                                         BA, letrozole treatment resulted in a
sone dose. The comparison group
                                         trend toward increasing predicted adult References
(control group) was treated with hy-
                                         height and decreased BA progression.        Morishima A, Grumback MM, Simpson ER, Fisher C, Qin K. Aromatase de-
                                                                                                             1


drocortisone and fludrocortisone.                                                  ficiency in male and female siblings caused by a novel mutation and the physi-
                                                                                   ological role of estrogens. J Clin Endocrinol Metab 80(12):3689-98, 1995
During the two year study, children No side effects were reported. The
                                                                                      Bisagni G, Cocconi G, Scaglione F, Fraschini                    Trunet PF. Letro-
receiving the four-drug treatment had average length of letrozole treatment zole, a new oral non-steroidal aromatase inhibitorF,inPfister C, postmenopausal
                                                                                                             2

                                                                                                                                             treating
significantly higher plasma androgen was 1.34 years. 8                             patients with advanced breast cancer. A pilot study. Ann Oncol 7(1):99-102,
                                                                                   1996
levels with normal linear growth
                                                                                     Feuillan PP, Foster CM, Pescovitz OH, Hench KD, Shawker T, Dwyer A, Malley
                                                                                                             3

rate and bone age. There were no In a study on nine females with McCu- JD, Barnes K, Loriaux DL, Cutler GB Jr. Treatment of precocious puberty in the
significant harmful effects reported. ne- Albright syndrome (a condition McCune-Albright Syndrome with the aromatase inhibitor testolactone. N Engl J
                                                                                   Med 315(18):1115-1119, 1986
The authors concluded that the four-drug associated with precocious puberty Geisler J, Haynes B, Anker G, Dowsett M, Lonning PE. Influence of letrozole
                                                                                                             4


treatment provided effective control of and advanced BA due to estrogen and anastrozole on total body aromatization and plasma estrogen levels in
                                                                                   postmenopausal breast cancer patients evaluated in a randomized, cross-over
CAH with reduced risk of glucocorti- secretion from ovarian cysts), the study. J Clin Oncol 20:751-757, 2002
coid excess. However, potential prob- authors reported that letrozole may Feuillan PP, Foster CM, Pescovitz OH, Hench KD, Shawker T, Dwyer A, Malley
                                                                                                             5


lems with this combination therapy are be effective therapy in decreasing the JD, Barnes K, Loriaux DL, Cutler GB aromatase inhibitor testolactone. N Engl J
                                                                                   McCune-Albright Syndrome with the
                                                                                                                           Jr. Treatment of precocious puberty in the

a complex administration schedule and rates of growth and BA advancement. Med 315(18):1115-1119, 1986
the large number of medications taken Possible undesirable effects reported Wickman S, Sipila I, Ankarberg-Lingren C, Norgavaara E, Dunkel L. A specific
                                                                                                             6



on a daily basis. In addition, flutamide were ovarian enlargement and cyst for- aromatase randomized controlled increase in adult height in boys with delayed
                                                                                   puberty: a
                                                                                               inhibitor and potential
                                                                                                                       trial. Lancet 357:1743-48, 2001
could be associated with liver toxicity. mation.
                                                  9
                                                                                                             7
                                                                                                              Karmazin A, Moore WV, Popovic J, Jacobson JD. The effect of letrozole on
In another study6 on 33 boys with                                                                            bone age progression, predicted adult height, and adrenal gland function. J
                                                       Estrogen is important in many metabolic               Pediatr Endocrinol Metab 18(3):285-93, 2005
delayed puberty, the progression of BA
                                                       processes. Aromatase inhibition could                 8
                                                                                                              Turpin A, Jacobson J, Moore WV, Popovic J. Effects of Letrozole Treatment on
advancement was significantly less in                                                                        Skeletal Maturation in Females. Horm Res 62(S2),P-537,149, 2004
                                                       theoretically cause unwanted meta-
the letrozole treated group compared
                                                       bolic and hormonal effects in children.               9
                                                                                                               Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT. <http://www.
to a placebo. Three groups of subjects                                                                       ncbi.nlm.nih.gov/pubmed/17405850?ordinalpos=2&amp;itool=EntrezSyste
                                                       Decreased estrogen levels could cause                 m2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum>Letrozole treat-
were followed for eighteen months:                                                                           ment of precocious puberty in girls with the McCune-Albright syndrome: a pilot
                                                       abnormalities in fat and insulin me-                  study. J Clin Endocrinol Metab 92(6):2100-6, 2007
untreated boys, boys treated with
                                                       tabolism, bone mineralization, growth
testosterone and placebo, and                                                                                10
                                                                                                                Wickman S, Kajantie E, Dunkel L. Effects of suppression of estrogen action
                                                       hormone production, psychosexual                      by the P450 aromatase inhibitor letrozole on bone mineral density and bone
boys treated with testosterone and                                                                           turnover in pubertal boys. J Clin Endocrinol Metab 88(8):3785-3793, 2003
                                                       development and intelligence10,11,12.
letrozole. The BA progression was                                                                            11
                                                                                                                 Wickman S, Saukkonen T, Dunkel L. The role of sex steroids in the regu-
                                                       Though the risks may be low, it is                    lation of insulin sensitivity and serum lipid concentrations during male pu-
statistically significantly slower in the                                                                    berty: a prospective study with a P450-aromatase inhibitor. Eur J Endocrinol
                                                       important to keep in mind that the studies
testosterone and letrozole treated                                                                           146(3):339-346, 2002
                                                       done so far are inadequate to show side
group than in either control group. The                                                                      12
                                                                                                                Wickman S, Dunkel L. Inhibition of P450 aromatase enhances gonadotro-
                                                       effects, even if side effects are present.            pin secretion in early and midpubertal boys: evidence for a pituitary site of
                                                                                                             action of endogenous E. J Clin Endocrinol Metab 86(10):4887-4894, 2001


22                                                                                                                Cares Foundation, Inc.                         Spring 2008
                                                                                                                             News



            Phoqus Pharmaceuticals Announces Positive Results
      from a Phase II study of its Novel Cortisol Replacement Therapy,
                                 Chronocort®
West Malling, UK, 3 March 2008                                  The Phase II trial, which was conducted at the National Institutes
Phoqus Pharmaceuticals, the speciality pharmaceutical           of Health in Bethesda, Maryland, showed that treatment with
company, today announces positive results from a Phase          Chronocort® gave an overnight cortisol profile much closer to
II study evaluating its delayed, sustained release hydrocor-    the normal physiological profile than conventional immediate
tisone therapy Chronocort®, in patients with Congenital         release hydrocortisone. In addition, the majority of patients had
Adrenal Hyperplasia (“CAH”). CAH is a genetic enzyme            lower morning levels of 17-OHP when treated with Chronocort®
disorder characterised by deficiency of the hormone             compared with conventional therapy.
cortisol and excess production of androgens (male sex
hormones). Raised androgens, together with a lack of cor-       Fourteen patients with CAH received a 7 day run-in period of
tisol, are responsible for the majority of symp-                       immediate release hydrocortisone given three times a day.
toms such as fatigue, infertility, hirsutism                               They then switched to a single dose of Chronocort®
and obesity.                                                                  at 10.00pm for 28 days. A 24 hour pharmacokinetic
                                                                                 (”PK”) profile was performed at the end of each
In healthy subjects, cortisol is                                                  treatment period. The primary endpoint was
produced in a distinct circadian                                                   the 24 hour cortisol profiles which, during the
rhythm: building over night, peak-                                                  Chronocort® treatment period, more closely
ing early in the morning and de-                                                    matched the overnight physiological pattern
clining throughout the day to its                                                  than with conventional immediate release treat-
lowest point around midnight. CAH                                                 ment. An important secondary endpoint (and
patients lack the enzyme to convert                                             key pharmacodynamic measure) was the morning
17-Hydroxyprogesterone (“17-OHP”)                                           17-OHP level which showed reduced mean levels with
into cortisol. In the absence of cortisol,                              Chronocort® compared with conventional treatment.
which acts as a brake to 17-OHP production, 17-OHP              These results give confidence that Chronocort® has performed as
and other androgens accumulate. 17-OHP levels are used          designed and allow the design of an appropriate dosing regimen
to adjust the dose of steroid replacement but with con-         for a Phase III pivotal trial. The Company is now preparing to
ventional therapy it is very difficult to replicate the natu-   discuss such a trial with regulatory authorities.The data will be sub-
ral circadian rhythm and to get the balance right between       mitted for publication in a peer reviewed journal in due course.
under and over treatment. This leaves patients at chronic
risk of steroid excess which may lead to obesity, high          Chronocort® was well tolerated with no serious adverse events.
blood pressure, diabetes and osteoporosis.                      http://www.phoqus.com/RNS08030301.aspx


     CARES Supported Research Grantee
     Carol Van Ryzin Receives Prestigious Award
     Carol Van Ryzin, RN, CPNP was awarded the PENS First Time Presenter
     Case Presentation Poster Award for the poster: Consequences of Late
     Diagnosis of Congenital Adrenal Hyperplasia: A Case of Three Boys.

     The award arose out of research supported by CARES Foundation at the
     National Institutes of Health and was presented to Carol at the Pediatric
     Endocrine Nursing Society (PENS) conference in Cincinnati, OH this
     past April.


Cares Foundation, Inc.     Spring 2008                                                                                             23
AND NoW FoR SoME GooD NEWS…maybe
Having a genetic abnormality doesn’t have many positive
associations. To the well-known problems for those with
CAH, some reports have added cognitive deficits. However,
information we’ve extracted from last year’s CAH survey
offers a different slant on the cognition problem. Eighty percent
(80%) of the 113 adults with CAH (average age 37 years) who
completed the survey had attended college, 35% had attended
graduate school and 7% had attended or graduated from doc-
toral programs (MD or PhD). These numbers far exceed those
of the population at large, based on US statistics.                 Moving right along...
                                                                    Have you recently moved
The problem is that this is a very small, self-selected sample.     or changed your contact
To make a convincing argument that CAH is linked with “high         information? Please notify Meryl
intelligence” and/or “high achievement,” we need information        at the CARES office, so we can continue
                                                                    communicating! Office: (toll-free)
from more than 4% of our members.To that end, be on the alert
                                                                    866-227-3737 or email:
for a short questionnaire in the next six months. To those who
                                                                    meryl@caresfoundation.org
completed the first survey, Thank you!


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