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2017 Muscular Dystrophy Association Scientific Conference was a beacon of light! Researchers from academic medical centers, pharmaceutical companies, children’s’ medical centers, biotech, engineering, and veterinary medicine came together to share…
Baby Isabella (pictured above) is in serious need of a hospital transfer. Her condition Gastroschisis, is rare. She needs a facility with people who have the most experience caring for…
It is hard to study rare diseases because there are so few people with them. Patients are scattered all over the world. Many are children. Many cannot travel. How to make…
GSK and the National Institute of Allergy and Infectious Diseases have some good news released on Thanksgivng Day and its name is Nucala. Vasculitis is a tough and not fully…
The physicians who left me undiagnosed said "we" missed the brain tumor. WE?! YOU, the 10 or 12 doctors I saw, missed that I had acromegaly. The doctor who finally…
Fabry Disease is the number number two Lysosomal Storage disease in terms of numbers affected. It is an X-linked disease, with males passing on the mutated allele to all of their…
Gastroschisis is a birth defect where the intestines and sometimes other abdominal organs such as the stomach or liver are outside the body, rather than inside. This used to come as…
Current treatments for cervical dystonia provide inadequate relief to many. Dystonia twists people and leads to strange postures, involuntary movements and pain. It affects men, women and children. Check out more…
Sociologist Georg Simmel, calls Gratitude the “ moral memory of mankind”. But researchers tell us that gratitude is more than a moral or ethical acknowledgement of help of some kind.…
Hunter Syndrome, is a heartbreaking twist of genetic fate, and we celebrate that the FDA has granted Rare Pediatric Disease Designation to REGENXBIO's RGX-121 Gene Therapy. Hunter Syndrome causes seemingly…
Jana and Sara are 32 year old twins, born and raised in North Dakota. We had the pleasure of speaking with both of these precious young ladies about their rare…
Still not feeling well? You are not alone! The new, and validated survey instrument on quality of life for patients being treated for acromegaly, developed by Dr. Maria Fleseriu and…
Just weeks after the FDA required more data prior to approving an oral form of Octreotide, proposed by Chiasma Pharmaceuticals, a British pharmaceutical and device company, Glide (not the dental…
Have a rare disease? Have you ever been to a national patient conference? These are invaluable opportunities to connect with others who share your challenges and concerns! Imagine being in…
“ Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s – simultaneously.” - The Huntington’s Disease Society of America States For almost 50 years research into the cause and…
A mother of three in Scotland had experienced dystonia symptoms since childhood, and these symptoms got progressively worse over the years. Like so many with a rare condition it took…
The HAE community cheered in July of 2015 when another new therapy was approved by the FDA to treat acute HAE attacks. Now, the pharma company has another reason to cheer. The…
Life just got a little easier for parents of young kids with Tyrosinemia Type I (HT-1) Raising a child with Tyrosinemia requires constant, attention to diet, a special formula, and…
Wilson Disease: the rare, autosomal (meaning it occurs in both men and women), recessive (meaning that an individual must inherit one copy of the mutated allele from each parent to…
As families and individuals dealing with rare disease, we all want research and answers sooner- but we soon learn how slow that process is. But check out the hope below: 9500…
Mycosis Fungoides (MF) is a rare form of lymphoma that affects usually affects the skin causing inflammation, tumors, plaques, and redness. It only affects 3 to 4 people in a…
Dr. David Fajgenbaum was read his last rites- but he did not die, instead he turned the rare disease research model around. He is now working to expand the model…
Kids diagnosed with EB, or Epidermolysis Bullosa, have skin as fragile as a butterfly’s wings. DEBRA stands for Dystrophic Epidermolysis Bullosa Research Association, the patients association for this fragile skin disorder which…
According to PW writer Kathy, there was a shining star at Rare Disease Week on Capitol Hill's Rare Artist Reception. Olivia is the youngest of four daughters. She was diagnosed…
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