Q. I heard someone mention that February 29th referred to as Rare Disease Day. Can you explain what constitutes a rare disease and what Rare Disease Day is all about?
A. There are a few definitions of what constitutes a rare disease depending on what part of the world you are living in but the basic principle in all definitions is a disease or disorder that affects a very small percentage of our population. The majority of rare diseases are considered life-threatening or chronically debilitating. A disease is considered rare;
· In the United States if fewer than 200,000 people are affected or 1 in 1,500
· In Japan if fewer than 50,000 people are affected or 1 in 2,500
· In the European Union if less than 1 in 200
Most rare diseases are genetically inherited, meaning that you inherited it from one or both of your parents. This is where it can get complicated, and you might need a crash course in biology to explain this further.
It is estimated that there are about 10,000 rare diseases that are in existence today and most of us would not be able to name more than a few. The rarest of the rare diseases is Fields Condition which affects only 3 people in the world and the second rarest disease is ribose-5-phosphate isomerase deficiency which affects only 4 people globally. Don’t worry, we are not about to list all 10,000 of the rare diseases.
As rare as rare diseases are, it is possible that you may know someone who is fighting one. We, for one, have an adult son who has a rare form of leukodystrophy called megalencephalic leukoencephalopathy with subcortical cysts, or MLC for short. To our knowledge, he is one of two people in Canada who have MLC.
For many that have a rare disease in their family, you may find yourself educating healthcare practitioners of all kinds since you likely know more than they do about the condition. Keep in mind that not all rare diseases are as rare as this. Ideally, they are not. Some examples of more “well-known” rare diseases that you and healthcare providers may be aware of are Huntington disease, Guillain-Barré syndrome, Duchenne muscular dystrophy, cystic fibrosis to name a few.
When rare diseases are unknown with the general population, there is often a lack of awareness with the medical and research community. This is more than likely accompanied by a lack of funding and other resources that are much needed to help these rare and ultra rare diseases. Awareness and money are both key ingredients for research to occur. And, without research, a treatment will not be able to be discovered.
This leads us to Rare Disease Day. In many parts of the world, to raise awareness for all rare diseases, Rare Disease Day is celebrated on the last day of February. This year, due to the “rare” extra day in leap years, it is on February 29th. Many non-profits that are specific to a rare disease will post about their disease on various social media platforms to share their story and make their condition more known. You may have seen various slogans associated with them such as “show us your stripes”. This has been adopted as a comparison to the stripes on Zebras since no two Zebras have the same striped pattern making each Zebra unique.
For more information on this or any other health topic, contact your pharmacist.
