Oh Canada, people think you’re all “please and thank you,” and maple syrup, but I know the truth: You’re a fighter and that fight is most obvious in the Canadian…
Only THREE more days for families, patient advocacy groups, and researchers to give input into NIH’s new initiative on undiagnosed disease research. Do you have ideas about strategy, metrics, approaches…
Gene therapy has been talked about for quite some time, but recent news has turned a hope into a reality for babies born with adenosine deaminase (ADA)-deficient SCID, severe combined…
Ignorance - Lack of knowledge, learning, information. Careless - Having no concern or care, not paying attention. When trying to find the perfect words to describe the youngest Jenner's latest…
In addition to NIH and NORD there are many university-based centers for rare disease. Today’s feature: The Boler-Parseghian Center for Rare and Neglected Diseases at The University of Notre Dame,…
Unless you live in a box (or don't frequent Amazon.com), it's Christmahanawkanzika time! The most wonderful time of the year! To continue the trend of the winter festivities, we wanted…
Doctor, please take my baby's blood! The IDF encourages Louisiana state officials to sign into law routine screenings of newborns for SCID, or Severe Combined Immune Deficiency. The IDF's ultimate goal is to…
When Skyelah was born her mother Angela immediately noticed something was different. She had three other children who had all cooed and smiled as infants. Skyelah rarely did, in fact,…
What's all this about taking a bite of an apple then falling into a deep sleep for years and years? That's what happened to Snow White, and as far fetched…
Welcome to December 2015 PatientWorthians! 'Tis the season for sharing and do we have some stories for you! As we round #NERVEmber this week, we want to highlight some hope for our…
When browsing through Tumblr or scrolling past tweets have you ever found yourself asking, "What is a spoonie?" It's time to find out. First of all, a spoonie is a…
Doctors don't always know best. That's something every parent whose child has a rare, chronic illness understands. These parents featured on Rare Connect finally got a diagnosis of Muckle-Wells Syndrome…
Dominick “Dom-the-Bomb” Lukowski has always loved baseball. But during his freshman year in high school, he was shocked to notice that he barely had the strength to throw a ball…
Familial Cold Auto-Inflammatory Syndrome is a very rare condition; set apart even from other hereditary periodic fevers. These unique traits are something that patients with FCAS are all too familiar…
You may not know Oliver Bailey personally, but he is one special boy. The brother of Tilly Bailey, who has one of the rarest genetic conditions in the world Neonatal-Onset Multisystem…
Expert knowledge, however indispensable, is no substitute for a generous and comprehending outlook upon the human story with all its sadness and with all its unquenchable hope.” -Winston Churchill We…
What do this woman... and this woman... have in common? Well, besides the obvious similarities between their beautiful blonde locks, both of these woman share an unusual connection: familiarity…
Neonatal Onset Multisystem Inflammatory Disease (NOMID) is one of the rarest genetic diseases in the world, but Tilly Bailey, 17, and her family know all about it. Tilly has NOMID,…
CAPS FCAS, MWS, and NOMID all fall under CAPS with mutations in the same gene and share some overlapping symptoms. However, each has unique distinctions and there can also can…
Ever been put off by a headline, but felt compelled to read the post? Yup. That was me when I happened upon the article, A Day in the Life of…
If Frank Sinatra had CAPS, the lyrics to "I've Got You Under My Skin" might go like this: I've got you under my skin. I've got you deep in the…
Patients with CAPS are one in a million, but that rarity and its presence at birth (even infants with CAPS can be symptomatic), make it important for children with the disease…
People are not pandas. So as a general rule, seeing bamboo is not going to make us happy—a fact that is most emphatically true for people with ankylosing spondylitis (AS).…
Whenever I tell someone “I have Lyme,” I get reactions varying from “Oh that shouldn’t be a big deal,” to “Oh, yeah I heard that can get bad.” I even…
You may not know this, but a bean-sized gland, located in your brain (behind your nose and between your ears) secretes hormones that influence almost all of your body. What…
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