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Please Don't Forget About 'Ultra-Rare' Diseases on Rare Disease Day

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With Rare Disease Day approaching there is an important distinction that needs to be made because “rare disease” does not give an accurate description of Canavan disease. Canavan has recently and more appropriately been designated as an “ultra-rare disease.”

While I fully support and understand the need to make people aware of rare diseases I also think it is critical to advance this awareness to each individual and unique disease. A rare disease could affect 200,000 people in the U.S., but Canavan affects only about 500 children and young adults in the entire world.

The people who want to discover the cure for Canavan disease are the families it affects. Our research can and has already been applied to other much more common rare diseases such as Parkinson’s disease and Alzheimer’s disease, but original research was funded, advanced and pioneered by the families living with Canavan disease.

Our children need someone fighting for them. I prefer to primarily focus on advancing disease-specific research and a more narrow goal of targeting awareness to help children born with Canavan.

If you want to understand more about what it feels like to receive a diagnosis of Canavan disease try to imagine any other illness you are familiar with though your own experience or that of a friend or family member. Now imagine the baby who was just diagnosed with Canavan disease is your own child. When you are given the diagnosis you will also be told there is really not much you can do to help your child because there is no cure. It’s a rare, fatal, and progressive brain disease that will ultimately deteriorate your child’s motor function, including the most primitive and automatic functions such as respiration. I was told to take my baby home and look for a nursing home.

Imagine a disease so rare that no one has even heard of it. So when you decide to share this news with your friends and family you also need to give a detailed description of the diagnosis and prognosis. There is no way to accurately describe what it feels like to learn your baby has been born with Canavan disease. I can’t do that by posting a meme about rare diseases. I can’t even begin to describe the absolute destruction of hope. And I will not try to attempt it here. I do want people to understand there are diseases so rare that they are unheard of by the general population.

If you know someone affected by Canavan disease please let them know if you are interested in learning more about the disease, what they are going through on a daily basis, or how you can help. Or message me. I have devoted my life to helping discover the cure for Canavan disease. My son is 19 and a half years old and still doing well, largely in part by the research I have been fighting for and funding for the past 19 years when I received the news of Max’s diagnosis. I never gave up hope, and my mission is to give that same hope to as many other families as possible.

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Thinkstock photo by wild pixel

Originally published: February 8, 2017
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