Building awareness and communities to support and find treatments for Rare Diseases and Genetic Conditions
“The hardest thing about having an intellectual disability is the loneliness.” – John Franklin Stephens Over the past 12 years, I have learned this is true for many of our kids with intellectual and developmental disabilities– and even for their parents. When my daughter, Samantha, [...]
Finnan’s going to be three years old in less than two weeks, which in rare genetic disease time is pretty far off. Using the future tense when referring to Finnan is not something I like to do. I’m just happy if he wakes up each [...]
I am not an expert. Sometimes I feel as if my advice should come with a warning: “do not attempt.” Everyone’s life is different, and unfortunately, I must begin this article by stating that there is no handbook to love. Add to that the factor [...]
“Understanding the Differences Between a 504 Plan and an Individualized Education Plan (IEP)” Join us for a webinar regarding the basics of special education in the public school system on Wednesday, April 17, 2013 from 10:00am to 11:30am. Taught by Pam Lindemann, The IEP Advocate, [...]
Many rare diseases, like my own, have hard-to-pronounce names that evoke fear or boredom from people first hearing them. In my experience, eyes glaze over around the middle of “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.” Giving the acronym “CADASIL” for short doesn’t [...]
When I was a kid, having a support team for my disease meant having a parent who would fight my doctors for the “unnecessary” x-ray, the “it won’t make a difference” blood test, and the walk-in, 5:59 PM doctor’s appointment. But as an adult with [...]
CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy, has partnered with Dr. Elisabeth Le Rumeur and Pr Jean-François Hubert, researchers from the Institute of Genetics and Development of Rennes at the University of Rennes 1 in [...]
Nimbus Discovery splashed onto the scene in 2011 with a big-name investor group that included Bill Gates and a plan to discover drugs with the help of computer software. On Tuesday, that idea turned into a potentially big partnership with Shire to help conquer currently untouchable rare [...]
LYSOGENE announced today that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to its lead gene therapy product SAF-301 for the treatment of Sanfilippo type A syndrome (also named mucopolysaccharidosis type IIIA), a rare, genetic and life-threatening disease affecting children (http://www.accessdata.fda.gov). [...]
