2008a sept sip conf notes

					            STICKLER Involved People              Newsletter
15 Angelina Augusta, KS 67010      316-259-5194       e-mail: sip@sticklers.org
           Vol. 13, #3      Sept, 2008                         Page 1

NOTES from the 2008                               problems, only eyes. They have not
                                                  found a Wagner gene mutation
Conference                                        location.
                                                  In the last year, The NIA study has
                                                  seen 16 new patients. Mutation
Dr Nazli McDonnell-Stickler                       detections are ongoing. Nazli is
overview & NIA study Stickler                     collaborating with Dr Hejtmancyk on
syndrome (Ss) is autosomal and                    the new gene that may be a Stickler
dominant. If one parent has Ss, there             mutation. She has established
is a 50% chance of passing it on. Eye,            collaboration with NEI this month.
hearing, facial feature, bone and joint           She thanks all for the tissue and skin
problems are specific to Ss. 75% of               samples. Skin samples are being used
cases are COL2A1l, COL11A1 or                     toward prevention.
COL11A2. The diagnosis is often                   She found a news study of 21 families
mistaken and is under diagnosed.                  in Brazil. (EurJ. Med Genetics ,
12% of persons with COL2A1 have                   2008, May-June, 51 (3): 183-96.
Pierre Robin syndrome (PRS).                      These are younger individuals. She
If a body were put in a blender, 70%              will post to the website.
is collagen. COL2 and COL11 are                   She cited Snead’s article published in
just two of 25 types of collagen. All             Jan 2008 and Czech dysplasia, a
three collagens are in eyes, joints and           COL2A1 cousin of Stickler
bones. Ss may cause near                          syndrome, with pseudo rheumatoid
sightedness, vitreous degeneration,               arthritis, short fingers, and no cleft or
detachments, and tearing, premature               eye problems. She has noted that 3
cataracts, or glaucoma. It may cause              recent patients with COL11A1
a cleft palate, broadened nasal bridge,           mutations have short stature and one
small chin, bived uvula, hearing loss,            has an aortic root dilation. These are
joint laxity. Persons with the COL11              places her research is progressing.
mutation may be shorter than normal.
The NIH study had 38 probands                     Dr Chris Halpin -Audiology: He
within 8 families, 24 were matches to             spoke about the value of support
COL2A1 and 4 matched COL11A1.                     groups. He said that analog hearing
New research believes that Wagner                 aids are going away. Aids do not
syndrome does not have skeletal                   make perfect sound, just better than
            STICKLER Involved People              Newsletter
15 Angelina Augusta, KS 67010      316-259-5194       e-mail: sip@sticklers.org
           Vol. 13, #3      Sept, 2008                         Page 2

without. Most people think of                     a procedure to make the lens more
microphones, that an aid will increase            porous, takes 15-20 seconds and is a
volume. But if the amplifier is not               cure. Trabeculectomy creates a leak
working, the sound cannot work.                   in the eye and is very effective to
Aids are limited because of the ear               reduce pressures.
and its damage. Hearing is work that              Look for COMMITMENT in a
we do not even think about and it uses            surgeon. A persons can buy a
a LOT of energy to her. Make sure                 tonomoter to check pressures in their
that an aid has a volume control.                 own eyes. Everyone should know
                                                  their own eye pressures. He feels that
Dr David Walton- spoke on pediatric               light sensitivity is an indicator of
glaucoma: He stated that detachments,             Stickler syndrome.
in Stickler syndrome, should never be
a surprise. There are relative few                Dr Tatsuo Hirose-retina specialist :
causes of glaucoma. Systemic                      He is with Boston Eye Group and is
diseases can cause glaucoma.                      the only person (according to Dr
Successful prevention of Glaucoma                 Liberfarb) who still believes that
blindness include:                                Wagner and Stickler syndromes are
1. Early recognition                              the same. He says that clinically they
2. Specialized skills                             are the same, just different genes.
3. Careful examinations                           Both are hereditary and involve
4. Successful treatments                          vitreous and retinal degeneration,
5. Research/teaching                              night blindness, retinal detachment,
A careful eye examination is essential.           myopia, cataracts, optically empty
A normal ophthalmologist will see 40              vitreous cavity, and retinal
patients in a day. He sees 6-8. A                 pigmentation.
child can be examined at any age,                 He says that retinal detachments are
some under anesthesia. There is no                not caused by a physical event. There
excuse for a child to not be examined.            is a pigmentation specific to Stickler
Hand held slit lamps are an example               syndrome, A Swiss cheese appearance
of tools used. He showed views from               of the vitreous is specific to Stickler
some exams. Children with early                   syndrome. Laser treatment is more
cataract extractions have a higher                common than cryo, due to the ability
potential for glaucoma. Goniotomy is              of laser to reach the depths of the eye.
            STICKLER Involved People              Newsletter
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           Vol. 13, #3      Sept, 2008                         Page 3

A doctor has to KNOW where to                     cartilage. He showed what “arthritis”
treat! Treatment should be where the              looks like. He showed an initial
breaks were formed. Silent breaks                 model of bones that are normal. He
(where vision is not initially lost) are          said that 12/3 of Stickler patients, of
very common in Stickler syndrome.                 the age of 5, report pain. Most
If all retinal breaks are not found,              findings were mild and do not require
surgery will fail. He has an 84.2%                treatment, but helping diagnosis.
Stickler surgery success rate and a               Sources of pain are unclear, but some
94% success rate for detachments                  more severe pain is present.
from other causes.                                Protrusio Acetabuli (a hip joint
Both eyes are involved, with Stickler             irregularity) is rare, but found in 10%
syndrome, but may not both detach.                of Stickler syndrome patients in the
A person younger than 10 has a higher             NIH study. It is an abnormal neck
risk of giant tears, with no past                 shaft alignment. Most common is
evidence. Diagnosis is poorer, due to             valgus (increased angle). There was a
liquefied vitreous. His prophylactic              lot of arthritis in hip, bones spurs, and
treatment success has been 100% in                eroding cartilage. More appeared
all 29 patients. A surgeon also needs             with age, and is potentially disabling.
to know when to quit. A good                      There was chronic pain in 63% of
surgeon’s hand is slow and smooth.                persons over 5.
He recommends an eye exam for the                 Femoral head failure: Observed, but
entire family, younger people                     not understood. Normally occurs
especially. Follow those with                     during youth, but 16% of adult
findings. Educate families. He                    patients had a history if this. Have x-
examines as much as possible without              rays immediately or an MRI. Use
anesthesia. Cryo vs. laser depends on             crutches and keep off the leg. Hip
the eye. Laser is easier and cryo is              problems may cause pain in the knee.
better for those who do not dilate                So, have hip x-rays when you have
well.                                             knee pain.
                                                  Life style, meds and surgery are the
Dr Pete Rose- spoke on the                        ways to deal with ortho problems.
orthopedic aspects of Stickler                    Every extra pound equals 4 pounds on
syndrome. He showed several slides.               knees and 3 pounds across the hips.
Collagens bundle together to form                   Scoliosis: Of 53 patients, ½ have
            STICKLER Involved People              Newsletter
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           Vol. 13, #3      Sept, 2008                         Page 4

had. 1 of 18 needed surgery. More                 successful knee and hip surgeries that
left curves than expected. Not                    have a big impact on longevity and
associated with pain.                             success.
Schmorl’s Nodes: The spine is block               Resurfacing: May make replacement
of bones with endplate (joint)                    easier and has less dislocation. Avoid
anomalies. Seen as a “wavy”                       metal on metal hip replacement on
character in bones. 74% of Stickler               women of child bearing age and on
patients have this, 94% of adults.                children.
Kyphosis: is hunchback and 43% of
Stickler patients had this abnormal               Dr Irene Souter- Preimplantation
sharp curve of the spine. Avoid                   genetic determination: PGD was
impact, have a healthy weight and                 introduced in 1990. The process is to
make appropriated decisions.                      test embryos, then implant only
 There is reasonable evidence that                unaffected embryos. 2-3% of births
glucosamine chondroitin helps with                still have a birth defect.
arthritic symptoms. Physical therapy              The egg donor is given fertility drugs.
is particularly important before                  Multiple eggs are produced, which are
surgery. Steroid injections are                   fertilized, the embryos analyzed.
effective in 2/3 of patients. The                 Healthy embryos are injected into the
effects often fade and it is safe to do           uterus. And the mother has an
3-4 times a year. Fusion is not                   unaffected baby.
recommended because other joints                  A genetic analysis is done on a single
will NOT “take over the load”.                    genetic disorder PGD is now offered
Ankles are the exception.                         for over 100 different disorders. The
Arthroscopy should have a CLEAR                   err rate is 1.3 to 5.6%. In 2004, with
target, not just for arthritis.                   12 years experience, the 3 largest
Realignment: In knees, surgically                 PGD centers were studied. 532 single
changes the alignment to “off load:               gene disorders were found. There
worn areas. May delay need for joint              were 142 pregnancies and 108 babies.
replacement. Hip realignment is                   Spontaneous miscarriage rates were
reasonable, but avoid minimal                     equal to “normal” statistics. In
invasive surgery (MIS). “you are in               20022, a European consortium study
this for 20 years, not just 20 days.”             showed 16000 eggs were collected,
There are very subtle differences in              60% fertilized, 42% diagnosed, 30%
            STICKLER Involved People              Newsletter
15 Angelina Augusta, KS 67010      316-259-5194       e-mail: sip@sticklers.org
           Vol. 13, #3      Sept, 2008                         Page 5

pregnancies, 1 out of 4 was multiple              persons does NOT have to have all
births, with normal weight and length,            clinical symptoms. The first family
normal Apgar scores and 90% were                  she observed, 12 of 17 were affected
full term.                                        and 6 of the 12 has no symptoms.
Dr believes that PGD is a effective
and save, to promote babies without
mutation. Within 3-4 years, PGD will              David Freeman- Rheumatologist:
be able to screen for 300 to 400 genes.           Every state has a chapter of the
Meds cost $3000 to $4000, for this                Arthritis Foundation. They can be
process. The genetic testing is                   found on the national website.
normally covered by insurance. The                Mayo.edu is the Mayo Clinic website.
cost is about $15000 without any                  Osteoporosis is common in persons
insurance.                                        over 50, but is a genetic disorder in
                                                  persons younger. X-rays of people
Dr Ruth Liberfarb- Stickler Clinic: At            over 50 shows arthritis at least in the
the clinic, she is able to do evaluation,         spine. 100% of people over 80 have
education, care of associated                     arthritis and 1/3 are on meds.
problems, family screening, and DNA               Evidence has been found that shows
analysis. She has access to                       dinosaurs had arthritis.
ophthalmologist, orthodontist,                    All pain is not arthritis, ligaments,
rheumatologist, and physiatrist. Since            bones, and joints hurt, also. When
Sept, 2006, she has seen 43 patients in           cartilage breaks down, bone spurs
21 families, 8 of those SIP families.             develop. Healthy cartilage looks like
35 patients in 17 families had Stickler           a chicken bone, the end is smooth.
syndrome. 10 families have a found                Joints are living tissue, and the repair
mutation and 6 families have criteria             process can fail. Breakdown of joints
diagnosis. She uses Matrix DNA                    is not just wear, in person with
Diagnostic at Tulane University. 14               Stickler syndrome. The underlying
families have a family history.                   collagen gives a feathery look. Bone
Stickler syndrome is the most                     spurs are an extra growth, with failure
common cause of hereditary retinal                of if normal repair process. Bone
detachment. Stickler syndrome is a                spurs, in the spine, equals a stiff spine.
the most common cause of juvenile                 Thinning cartilage results in bone
retinal detachment. An affected                   rubbing bone. Arthritis seen in wrists,
            STICKLER Involved People              Newsletter
15 Angelina Augusta, KS 67010      316-259-5194       e-mail: sip@sticklers.org
           Vol. 13, #3      Sept, 2008                         Page 6

ankles or elbows, in a person under               situation. Make sure the person is
40, is the result of an injury or a               trained to deal with arthritis. An
genetic problem. Stickler syndrome                exercise physiologist is best.
affects joints that are not normally               About injections: there are two kinds,
affected by arthritis.                            Cortisone (a steroid) works with
Physicians can almost “cure”                      rheumatoid arthritis, not osteoarthritis.
rheumatoid arthritis, which is an                 It is long acting, (up to 6 months) and
inflammation of the joints. It is                 reduces inflammation. Hips should
rapidly disabling and inflammation                only be injected with x-ray guidance.
can lead to damage of the joints.                 The other kind of injection is
Medication reduces pain, but is not a             SYMBUS, a series of 3 shots for three
true cure. Pain meds reduce the                   weeks or 5 shots for 5 weeks.
sensation of pain at the spinal level.
They dampen pain signals to the                   Dr Patrick Whelan, pediatric
brain. They do not make joints better.            rheumatologist; There are only 600 in
NSAID (Non Steroidal Anti                         the world and 150 in the US.
Inflammatory Drugs) are safe, used as             Rhemos, in Greek, means flowing and
prescribed, but can affect stomach or             was recognized early as moving from
liver. Tylenol has shown to cause no              one joint to another. A rheumatologist
stomach problems.                                 must know the entire body.
Thin and moving is better than                    He has found that hyper mobility, in
sedentary and over weight.                        Stickler syndrome, happens 2x as
Swimming is best exercise. Exercise               often in girls than in boys. Hyper
daily, using muscles 30 minutes a day.            mobility is also found in Marfan,
Exercise comfortably, should make                 Ehler Danlos, Osteogenesis
you walk better, have a feeling of well           Imperfecta, William’s syndrome, and
being, and sleep better.                          Downs syndrome. Flexibility is
Glucosamine/Chondroitin is not a                  evaluated by a Beighton Score of 1-9,
cure. It does nothing for health. IF it           a point for each thumb that touches
feels better and does no harm, use it.            the forearm, each little finger held
It will not improve joints. It does not           straight up, each elbow bending out,
“Diagnose, prevent, or cure.                      each knee extending past normal, and
About physical therapy, a good pro                being able to touch the floor with
knows when to push, to improve a                  palms flat. Hypermobility can be
            STICKLER Involved People              Newsletter
15 Angelina Augusta, KS 67010      316-259-5194       e-mail: sip@sticklers.org
           Vol. 13, #3      Sept, 2008                         Page 7

benign.                                           The website to find medical journal articles
Fibromyalgia can be a consequence of              about Stickler syndrome:
poor sleep. It causes an irritation of
the joints and the pain eliminates deep           Type Stickler syndrome in the SEARCH
sleep. Try a dose of analgesics at                box and hit "go".
night. The pain and loss of sleep form
a cycle, of more pain and therefore
more lost sleep and more pain.
TMJ may be a result of micronanthia.
Abnormal cartilage causes a heavier
load on the knees.
Answers from audience questions:
Sometimes, knee pain is transferred to
the hip.
There are children Physical Therapists
in Children’s Hospitals
For improved sleep: check mattress,
for gastro reflux, Chinese food. Make
sure room is dark and quiet. Can use
Melatonin to get a “sleep shift”. 3 mg
right after dinner.
Possible causes of hyper mobility:
       Muscle atrophy
       Ligament laxity
       Enlargement/ blunting of
epiphysis in Stickler syndrome
(makes joint        not fit well)
       Shallow axis
       Altered proprioception
(position of bone vs. thought of it.)
Children can restore cartilage.

From a booklet passed around at the