Facts and Statistics of Rare Diseases
There are over 6,000 rare diseases affecting people globally, of which less than 5% have any treatment. Over 300 million people worldwide are living with rare diseases, 50% of those affected being children. Since 2008, the 28th of February, is a day set aside to create awareness among policy makers and the public about rare diseases and their impact to patients.
This has seen more research go into understanding rare diseases and getting the necessary diagnostic and therapeutic procedures since most of them do not have a cure. The 2018 theme on rare disease day focuses not just on research but also ensuring that patients are actively involved in the research on these rare diseases.
Do you know what a rare disease is?
A Rare disease refers to any disease that affects only a small percentage of the population and is also referred to as an orphan disease. 80% of these diseases occur genetically while the rest are caused by bacterial or viral infections, environmental causes, allergies among other factors. Some of their characteristics include:
1. They may exhibit common symptoms making it easy for misdiagnosis and delay in treatment.
2. They have no existing cures and only 5% of them have approved treatment.
3. They disable the patients’ quality of life due to lack or loss of autonomy as they have a life-threatening aspect to them.
Some examples of rare diseases include:
- Alpers syndrome
- Barth syndrome
- Canavan disease
- Fields’ Disease
- Von Hippel-Lindau
- Fibrodysplasia Ossificans Progressiva
- Paraneoplastic Pemphigus
Challenges faced in dealing with rare diseases
Some of the challenges that are faced when dealing with rare diseases include:
- Lack of information on rare diseases which causes delay in diagnosis and starting of treatment for those that have treatment and therapy for those that require therapy.
- Lack of appropriate quality healthcare which makes it difficult for those with rare diseases to get treatment and the care they need.
- Social burden on rare disease sufferers because their normal life is interfered with making it harder for them to continue with their lives like they did before the illness and if it is a disease that one is born with, the person has to live with it their entire life going through the necessary therapy.
- Financial burden on patients because they have to spend money getting the correct diagnosis and trying to get therapy for the diseases that affect them which can take time due to the limited information available on these diseases.
Developments in dealing with rare diseases
Despite all the challenges that come with dealing with rare diseases, there are tremendous developments that have taken place in dealing with them. These include:
- Comprehensive approach to dealing with rare diseases which has led to the development of better public health policies.
- Increased international cooperation in scientific and clinical research enabling people to share more knowledge on rare diseases leading to new diagnostic and therapeutic procedures for these diseases. Clinical trials are a good example of how international cooperation has brought development in finding better ways to help those who suffer from rare diseases which has been enabled by the pooling of resources together among nations.
- The rare disease day is another factor that has led to more progress in dealing with rare diseases worldwide by creating a platform through which people around the world can share about these diseases, creating awareness on them and thereby developing better policies and ideas on diagnosis and therapy for people who suffer from those diseases.
Last year, only 94 countries held events to create awareness on rare diseases. This year, do not let this day to just pass by, let us learn more about rare diseases and share with as many people as possible about rare diseases because that is the only way we can broaden the knowledge about them. It will also help in getting better diagnostic and therapeutic procedures for the more than 300 million people who suffer from rare diseases. Remember that no one is protected from rare diseases, anyone can be a victim.