International Rare Disease Day
A rare disease is defined as one that affects fewer than 1 in 200,000 people. Sickle cell
anemia, Asperger’s syndrome and Lou Gehrig’s disease are all examples of well known
Estimates are there are more than 7,000 rare diseases. Even though considered rare,
hundreds of millions of people around the world are affected.
Nearly 30 million Americans have been diagnosed with a rare disease or medical
condition. A correct diagnosis for these diseases can take years because the number of
people affected by each disease is so small.
The low prevalence also means that finding a medical professional familiar with the
disease is difficult, knowledge is scarce and effective treatments are inadequate. Most
rare diseases are chronic and life threatening and little research is being conducted.
In addition to the difficulty of receiving a diagnosis and treatment is the challenge of
obtaining social and financial services. This includes Social Security Disability Insurance
(SSDI) benefits. One of the issues with obtaining these benefits is most service providers
do not have enough information about the diseases.
Those suffering from diseases not found in the Social Security Administration’s (SSA)
Listing of Impairments are frequently denied their initial Social Security Disability
Insurance claims and must go through a long appeals process. Sometimes these appeals
take so long the applicant dies before a decision is reached.
To help alleviate this situation, the SSA has created a Compassionate Allowances
initiative to identify rare diseases and medical conditions that consistently qualify under
the Listing of Impairments. The SSA provides a list of more than 100 rare diseases and
cancers to help identify SSDI-eligible disabilities so faster determinations can be made.
International Rare Disease Day, February 29, was started to help hundreds of patient
groups in over 40 countries raise awareness about rare diseases and the millions of people
affected by them.
Another challenge is the feeling of isolation resulting from being a member of a small
group of people with a rare medical condition. International Rare Disease Day allows
them and their families to raise their voices together in an effort to increase awareness.