Teen’s Pain and Unexpected Swelling Stumps Doctors

Story by Abigail Dearmore  When I was 17, I had…

FDA Expands use of Novartis’ Promacta® to Include Treatment of Children with Chronic Immune Thrombocytopenia
Novartis announced today that the US Food and Drug Administration (FDA) has approved an expanded use for Promacta® (eltrombopag) to… Continue Reading
Rare Disease Reports: FDA Accepts Sarepta’s Sarepta’s NDA for Eteplirsen. PDUFA Date Set
Thanks to Rare Disease Report for this post. Sarepta Therapeutics announced that the FDA has filed the New Drug Application (NDA) for… Continue Reading
WSJ Reports: For a Rare Disease, Drug Trials Scramble for Patients
Story by Amy Dockser Marcus After years of effort, scientists and families of young patients with the genetic condition Niemann-Pick Type C… Continue Reading
DDX3X: When Whole Exome Sequencing Reveals a Gene Variant that Science Hasn’t Caught Up To?
In August 2011, we welcomed our third child into our family. After an uneventful pregnancy, I delivered Peyton Grace via scheduled C-section… Continue Reading
Mother of Ultra-Rare Infant Seeks Other Families for Support Wieacker-Wolff Syndrome: Melora’s Story
Melora didn’t move much in the womb, just enough to let us know her heart was still beating. Born in 2011, after bed-rest because of… Continue Reading
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Father and Newborn Daughter Battle Supravalvular Aortic Stenosis Together
Courtney and Douglas Scholz never thought their five-month-old baby girl would have to have open-heart surgery. “Amelia was born with a… Continue Reading
Young Boys With Rare Skin Disease Become Best Friends Through Letters
Jackson Silver is 7 years old and has epidermolysis bullosa (EB), a rare skin disease that causes painful, graphic blisters all over his… Continue Reading