The U.S. Food and Drug Administration define a rare disease as one that affects fewer than 200,000 Americans at any given time.
The European Commission on Public Health defines rare diseases as life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, some people prefer the term orphan disease and use it as a synonym for rare disease.
So are Rare Diseases really Rare?
According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans. The Global Genes Project estimates there are some 350 million people worldwide currently affected with a rare disease and as much as 6% to 8% of a population can be affected by one.
Why is the issue of Rare Diseases so low on the health agenda?
Is the life of a man, woman or child who has a rare disease “Less valuable” than those who have other, equally devastating, but perhaps more treatable diseases. What research is being done, what treatments are available and why are available treatments so expensive? Is our Government attending to the needs of those with Rare Diseases and will our envisaged NHS be equipped to diagnose and treat people who have a rare disease? What are the everyday difficulties that people who have a rare disease, or parents of children with rare diseases have to face? Is there support?
What is the Orphan Drug Act?
It is an American legislation provides incentives for companies to develop treatments for rare diseases.
Has this legislation been successful?
Yes. During the decade before 1983, only 10 new treatments were developed by industry for rare diseases. Since 1983, more than 2,200 products have entered the research pipeline and more than 360 have been approved.
How can people help a family member with a rare disease get the best possible treatment?
In South Africa, you can contact the Rare Disease Society – also known as the Gaucher’s Society. The contact person is Kelly du Plessis whose little boy Juan also has a rare disease. Call Kelly on 0726236763 or go to www.rarediseases.co.za or www.gaucherssa.co.za
The Rare Disease Society can refer you to a specialist and can be tremendously helpful in many everyday ways, and they are also a wonderful way to network with other people who have the same disease.
One of the unique characteristics of the rare disease community is the close and supportive relationship that exists between medical experts and the patient community. It’s usually best, with rare diseases, to be treated by a specialist likely to have experience with rare diseases and in South Africa, like many other countries, there are only a few doctors, and only a few medical centres, with expertise on this particular disease.
Picture: Doctor and patient from Shutterstock