Rare Disease Day is the last day of February every year.
My Dan had a rare disease - Niemann-Pick - of which there are less than 1000 cases in the world.
So this February, I will be featuring a different rare disease every day in February. If you were following me in October, you saw a post a day on different aspects of Niemann Pick Disease. The entire list of those posts is here.
I hope you all enjoy learning, because I know this will be a learning experience for all of us. Obviously, feel free to share any of the posts and teach others.
If there is any particular rare disease that you have heard of and want to know more about, please let me know and I will see what information I can find.
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Jill, I have a friend with Scleroderma (adult), if you run out of rare diseases, I am sure she would pass some info along. Also, I met a child from Nick's summer school the year before I met you. He and his parents participated in the parade. He has San Filippo disease, also rare and also fatal in the long term. I guess he is currently doing a little better, I hope it continues! I am sure his mom would pass on some info.
ReplyDeleteJill - We have extended family with two children with San Filippo Syndrome. It is a recessive genetic disorder with no treatment or cure. Its victims are missing an enzyme responsible for breaking down a sugar called heparan sulfate. As they age, the sugar builds, causing progressive neurological and physical damage. There is no treatment or cure, drastically reducing their live span. You can learn about this terrific family at http://www.buildwiththeboyces.com/home. I applaud and admire your efforts to raise rare disease awareness. As has been discussed many times on the NPA family blogs, building awareness is crucial to finding treatments and cures for rare diseases. Pharmaceutical companies are reluctant to put research funding into treatments that are not profitable and the low number of patients in any given rare disease community mean the treatments are not money makers. This is so very wrong. Victims of rare disease deserve the same level of effort toward treatments and cures and those people suffering from more common conditions. I love your "loud" voice in this arena! :)
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