Why Rare Matters

Almost all of my posts are about rare disease. As a refresher, a rare disease in the United States is defined as a disorder or condition affecting less than 200,000. There are over 7000 rare diseases, affecting 1 in 10 Americans or approximately 25-30 million in the U.S. Doesn't make it sound so rare or unusual anymore, does it? And of these over 7,000 and counting rare disorders less than 5% (only about 500) have FDA approved treatments.

Why does it matter if what you are diagnosed with is defined as rare? Rare is defined as an event, situation or condition not occurring often. When someone first has symptoms of a rare condition, medical professionals of course look at all the more common causes of those symptoms. This is, of course, what they should do as it is most likely what the cause of the symptoms is. The problem often is that if the answers are not there or are unclear many times patients are just told that there is nothing medically wrong or that it is just "in their head". This is where many in the rare disease community have an extended diagnostic journey, the average lasting 4-5 years. If at the beginning they did not have anxiety and/or depression surrounding their symptoms and the lack of attention from medical professionals surrounding them, they many times do during that time. And because of the long journey to a diagnosis, many times the illness progresses beyond where it was when symptoms were first discovered, and possibly (if one of the lucky 5%) more treatable.

Once diagnosed with a rare illness the chances of a treatment are slim, a cure even slimmer. There are illnesses where symptoms have treatments and that is often where are rare patient finds themselves turning for relief. As the cause for the symptoms is rare, the treatments can be complicated and may require multiple attempts at a treatment to find what works best. Another delay in relief.

One way to find what may work is to find others with the same condition. In the rare world it is often not as easy as googling your local support group - being rare, you may be one of only a handful in your area with that condition or the only one. Living in the day and age with the access we have to technology we are fortunate to be able to connect with people literally all over the world. And that, my friends, is the most valuable rare disease advice I can give you - find your tribe! Even if you are one of only a few with your disorder - there are ultra rare diseases that only a few in the world have, they can connect virtually and have support of each other. The National Organization for Rare Disorders has a list of many rare disorders and groups that support them to connect people with each other at https://rarediseases.org/.

People with rare diseases also often times face similar hurdles in access to care. When an illness only has a small number fighting for a major change with state or federal government the fight is even more overwhelming than when a large group does. That is why organizations like NORD bring together rare disease organizations and support patients and caregivers in an effort for the 1 in 10 with rare diseases to have the same level care that others have. An organization like this, who has been around for 40 years has a relationship with the FDA and other big players and a strong voice like that can help.

So, if you have a diagnosis and are not sure if it is rare what do you do? First of all a simple google search will often explain if an illness is common or rare. The website I listed above has a large database of most rare disorders and is always expanding the information that is included with each to include not only more medical information, but also how you can connect with others. The NIH also has an area devoted to rare disease information https://rarediseases.info.nih.gov/ . And once you find places to connect do not be afraid to do so!! Remember in support groups people are often at their lowest and searching for advice - so do not expect a lot of uplifting posts, etc...at least initially. Some can be turned away from that, but that does not mean that you cannot ask for encouraging stories.

Rare is unusual. Rare is unique. Rare can feel lonely. But if you get a rare diagnosis, please know that there are others. It may be hard to find others with your rare, but there is other rare and somehow in this crazy world they are often connected. Rare is its own beautiful. And rare is also its own journey.

If you have any questions about rare disease, about if an illness or condition you or someone you love has please reach out to me.