March 1st, 2019
Rare Disease Awareness Day
Worldwide scientific researches, especially in the genetic field, have identified a considerable number of new disorders, or have labeled some of those that do not have a clear diagnosis. This has boosted and created a solid international cooperation about Rare diseases not only in the scientific field, but also among all those involved. Allowing patients, parents and professionals to have the possibility of sharing knowledge and experiences.
A rare disease is defined as rare in Europe when it affects fewer than 1 in 2000 people. In the United States, rare diseases are defined as those affecting 200,000 or fewer people or about 1 per 1,000.
According to the National Organization for Rare disorders, some of the rare diseases may affect only a small number of patients in USA or EU, but there are some that may touch as many as 245,000 people all over the world. In the EU, as many as 30 million people may be affected by one or more of 6000-8000 rare diseases.
Some facts about rare disease:
- 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative;
- 50% of rare diseases affect children;
- 3 in 10 children with rare diseases won’t live to their 5th birthday;
- 1 in 10 people are affected by some sort of rare disease;
- 1 in 2 rare diseases don’t have a foundation or research support group;
- 350 million people suffer from rare disease globally (greater than the USA population);
- 8 in 10 rare diseases are caused by a faulty gene. Therefore, approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes;
- It takes 8 years in average for a rare disease patient to have an accurate diagnosis;
- 95% of rare disease lack in FDA approved treatment;
- Rare disease is often referred to as an “orphan” disease because often they are not pursued by the pharmaceutical industry. This is because they provide little financial incentive for the private sector to make and market new medications to treat or prevent them and because there are not enough patients to make research cost-effective;
- Research on rare diseases can often lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, stroke and other major health problems;
- A rare disease impacts more people than Cancer and AIDS combined;
The Rare disease day is a great opportunity to raise awareness and promote communication between all those involved for the benefit of all rare disease patients around the world.
Please spread the word and join the High Hopes community on the 28th of February at Kite beach – Dubai for the Rare Disease walk.
Speech & Language Pathologist,
Voice and Oral Motor Specialist