Sickle Cell Disease (SCD) is an inherited disease that

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					                          Sickle Cell Disease from the Patient’s Point of View

                        Follow-up to the meeting of October 19, 2009 with
              Mr. Dale Kareem, Special Assistant to the President for Disability Policy

                                              SUMMARY


Sickle Cell Disease (SCD) is an inherited disease that results in an abnormal form of hemoglobin
              SCD causes premature destruction of red blood cells and bends red blood cells into a
                 sickle shape prevents smooth passage through blood vessels
              Periodic ‘crisis’ events cause intense pain and cumulative organ damage
              Crises are accelerated by stress and illness; the number of crises correlates to the
                 severity of disease and liklihood premature death
              The average person with SCD has a life expectancy of about 45 years

SCD has been called the ‘invisible’ disease; disability and acute damage the disease causes is rarely
reflected in the outward appearance of SCD patients
                 This feeds into the lack of awareness of how severely the disease affects those with
                  SCD by the public and by some health care workers
                 Ignorance of the disease leads to under-medication and adds to patient and family stress
                 No identification procedure exists to confirm a patients’ status as a ‘legitimate’
                  SCD sufferer

A minority of SCD patients receive care in one of the comprehensive sickle cell treatment centers
created by the federal government. Forty were authorized, but only seventeen have been established.
            Treatment outside the centers tends to be fragmented, and results in a higher rate of
               hospital admissions and causes greater disparities in the quality of care
            A 16-fold difference in SCD mortality rates among states correlates to differences in
               accessible care and an even greater disparity among counties illustrates why ‘geography
               is destiny’ for some SCD patients
            Genetic testing is difficult to access outside these specialized centers

Research for SCD is under-funded in comparison to other inheritable diseases affecting smaller
populations
            In 2006, the National Institute of Health spent $128 million on cystic fibrosis (CF), an
              inherited disease affecting 30,000 Americans, but spent only $90 million on SCD, which
              affects an estimated 72,000 in the US.
            In the private funding arena, cystic fibrosis research receives 8 times the funding per
              person that research on sickle cell disease receives
            SCD was the first disease to be identified by a specific genetic marker, almost forty years
              ago, but progress on genetic research has not been significant
            At a minimum, research on hemoglobin at the genetic level and an analysis of the
              successes and failures of bone marrow transplants is needed
Positive developments include the discovery of hydroxyurea as a treatment to reduce the number of
painful crisises suffered by the average patient and mandatory screening of infants in 49 states for SCD
that has resulted in earlier treatment of the disease.

The treatment and research initiatives that have been undertaken so far have been weak on client-based
input and focus
            The current system ignores the wider impact of SCD on the lives of individuals and their
               families
            There is a lack of data in many areas of patient concern:
                  - How to best address the financial, programmatic and medical needs of families
                      affected by SCD and best support the community-based organizations on which
                      they frequently rely?
                  - How to collaborate effectively with support and educational groups for persons
                      with other chronic conditions, such as heart disease, that often result from SCD?
                  - How can health care providers be educated on the best and most current
                      treatments, and how can their successes and failures be shared?

       In summary, the existing, unsatisfactory characteristics of current SCD treatment and research
       that must be addressed include:
            Treatment disparities based on geography or on poorly dispersed clinical findings
            A lack of education on SCD for health care providers and for the general public
            Under-funded research for a cure for SCD and for creating improved treatment options
            No national system of data-sharing on treatment or research
            Ignorance of the non-medical concerns of SCD patients and their families
            Languishing recommendations of leading practitioners in SCD treatment and research
            Lack of government policy leadership at the federal level



       Calls to Action:

       Reauthorize the Sickle Cell Treatment Act at its full authorization of $10 million to speed
       the development of additional comprehensive care centers.

       Fund the Hemoglobinopathy Registry and Surveillance System through the CDC on a par
       with other federal health surveillance systems.

       Provide substantial funding to the Sickle Cell Disease Clinical Research Network to
       support advances in treatment and promote information exchange among researchers and
       treatment professionals.

       Establish a National Symposium and Task Force on Patient-Centered Treatment of SCD
       to investigate and propose remedies for the unanswered needs of SCD patients and their
       families.

       In large part, Sickle Cell Disease has been overlooked by researchers, misunderstood by
       the public, undertreated in non-specialized medical facilities and hasn’t gained the
       attention that it should merit, given the number of people who are affected. TheUnited
       States should be setting a standard of care that can serve as an example to other nations
and our eminently qualified reasearchers should be vigorously pursuing a cure that could
impact tens of millions of lives around the world. It is time that we pulled SCD in from
the edges of scientific and clinical attention and center on winning the battle against
Sickle Cell Disease