Recently, a friend shared her concern for a colleague whose child is suffering from a rare disease called Muckle Wells Syndrome (MWS), a form of Cryopyrin-associated-periodic-syndrome (CAPS).
The story prompted me to investigate MWS. Right away, I found that information about MWS, was not too hard to find. Between Facebook, Snapchat, Go Fund Me, The National Genome Research Institute, and Rare Disease Day (to name a few), is “rare” still so hard to find?
No, “rare’ is all around us.
In fact, the power of the internet and social media have prompted some smaller foundations to shut down and allow larger groups to continue sharing their message. This is a promising change for those suffering from MWS or any rare condition.
When larger, better funded groups take on the burden of disseminating information, families and those with the rare disease can dedicate more time to health, healing, and enriching their own lives.
In the case of Madisons Foundation, it was not an easy decision to move on. But Marcy Smith explains why she decided to close the foundation that brought attention to such an important cause.
“Today, seventeen years later, the Internet is massive. The information and community that we struggled to gather and disseminate is now easily accessible through numerous rare disease databases and charitable organizations, and the availability of community had been made possible through social media.”
Researching rare diseases has moved beyond general information sharing to a global level and includes the ability for scientists and researchers to share patient tissue/fluid samples. The National Center for Advancing Translational Sciences (NCATS), worked with patient advocacy groups, the Office of Rare Diseases Research (ORDR), the National Institutes of Health (NIH), and other organizations to create a rare disease human specimen repository (RD-HuB).
While this “biospecimen sharing” may sound weird, it’s actually incredibly important. It helps scientists discover what causes the diseases and better ways to treat them.
NCATS explains how geographic distances are also making “rare,” not so rare. Researchers were having a hard time studying rare diseases because access to high quality samples was limited. Now, through the patient registry listing of RD-HuB, high-quality samples can be collected, stored, and linked to patient clinical data.
Information about symptoms, complications, support groups, and fundraisers for rare diseases are all around us. Foundations that were once so important may move aside for larger, more well funded groups, but that doesn’t mean progress, outreach, and scientific advancement will slow down.
