Today is Rare Disease Day and this year’s theme is: Day-by-day, hand-in-hand. I personally love that there is a strong movement of many coming together, from all corners, representing thousands of different diseases, all raising their voice together.
Rare disease is a very big part of my life and it’s not something that I have ever been particularly happy about. At 19 years of age I was diagnosed with Chrons Disease, the first of the rare in my family. Everyone felt bad for me. It was very hard to at that young age be dealing with debilitating pain as well as the financial issues that come with needing a lot of medical help. My case was extra special and the normal approaches at the time didn’t work. I was given the chance to enroll in a clinical trial at Mayo Clinic which I happened to live very close to. I am grateful for that opportunity as it was a turning point in my care. Sure, it was hard sitting in the infusion center with a bunch of very old cancer patients but I started to feel better and that made it worth it.
The next rare bird in my family is my mom. 9 years ago she had a massive stroke which lead to the discovery that she had Primary Amyloidosis, another rare disease, often featured on the show House as the worst case scenario. My mom was given a few months to live. Then there was an option to try a new combination of meds that might be helpful and they were. After a few years of that, a phase 1 trial started for a promising new drug, NEOD001. Next week, we will meet up with my parents after their trial visit at Stanford.
A year after my mom’s stroke we noticed that something was off with Claire. A few months later she became a card carrying member of the rare disease club when she was diagnosed with Rett syndrome. At the time there was no intervention. Today that is technically still true but I believe that Rett syndrome is going to be the next of the rare that is treated in our family.
Through all of this many people have expressed their sympathy, for me and for my mom as well as Claire. What we have is hard, it’s true. It is hard to live under a label that comes with many negative outcomes. That is why today, I am happy to celebrate being rare.
I hadn’t thought about it until I saw this graphic that was made by curerett.org. It is so easy to lose your identity to a diagnosis. I don’t want to see Claire as a Rett girl or see myself as a Chrons patient. We are rare, unusual, infrequent, remarkable, precious.
My mom has had more than 8 years more than what was expected past diagnosis. I have been able to do much more than was originally expected because of the treatments I have received resulting from clinical trials. Now Claire is in a clinical trial for Rett syndrome and we are hopeful that this is the beginning of a treatment to improve quality of life for her.
Together, day-by-day, hand-in-hand we are making the world a better place for people with rare diseases. I urge you, if you live rare and you have the opportunity to advance research by participating in a clinical trial, there isn’t a faster way to get treatment and the ability to create a better world for people like you gives back more than you will ever imagine.