FDA approval for Stealth BioTherapeutics' elamipretide has been a long time coming. What does this mean for other ultra-rare disease companies? The post First-ever approval for Barth Syndrome treatment: what does this mean for ultra-rare disease therapeutics? appeared first on Labiotech.eu. © Labiotech UG and Labiotech.eu. Unauthorized use and/or duplication of this material without express and written permission from this site’s author and/or owner is strictly prohibited. Excerpts and l...| Labiotech.eu
David Fajgenbaum was in medical school when his body began shutting down. A former college quarterback, he lay in bed, nearly helpless, as a priest read him his last rites. Then a doctor pitched a Hail Mary pass by administering seven different types of chemotherapy, hoping to blast Castleman disease out of Fajgenbaum’s body. It worked. He returned to medical school and to life.| Susannah Fox
Vicki McCarrell had always dreamed of becoming a mother. When she gave birth at age thirty-eight to her son Sean, life seemed complete. Yes, he had the full facial paralysis typical of Moebius syndrome, but otherwise, he looked perfect to her. Indeed, at the hospital near her home in Van Nuys, California, she was given a diagnosis and not much else. Nobody told her how to feed a baby who could not suck or even warned her that it would be an issue.| Susannah Fox
Jill Dopf Viles suspected a killer was hiding in her family’s genetic code. Symptoms popped up among her siblings, her father, her uncle, her grandmother, but, despite 15 annual visits to the Mayo Clinic, no clinician suggested anything more specific than muscular dystrophy.| Susannah Fox
Carter and his family started changing the narrative about disability even before he was diagnosed with this rare condition.| Boston Children's Answers
My phone started blowing up with texts from friends and family members yesterday morning, alerting me to a New York Times magazine cover story by Amanda Hess, “My Son Has a Rare Syndrome. So I Turned to the Internet” (gift link). Hess writes beautifully about her experience being dropped into the medical maze and her […]| Susannah Fox
Asa once wondered if he’d ever feel better, experiencing abdominal pain and severe diarrhea since birth. Genomic sequencing changed his life.| Boston Children's Answers
Is myasthenia gravis actually a rare disease? Columnist Shawna Barnes addresses this common question in the MG community.| Myasthenia Gravis News
The post Marvel Biosciences to File for Orphan Drug Designation with the U.S. FDA for MB-204 as a Treatment for Rett Syndrome appeared first on Marvel Biosciences.| Marvel Biosciences
In light of Rare Disease Day 2022, columnist Jacqueline Babiarz, who has a daughter with Rett syndrome, considers what it means to be rare.| Rett Syndrome News
KLS medical student and KLS researcher, Michael Hamper, shares his thoughts on what KLS is, how KLS is diagnosed and how KLS is treated.| KLS Foundation
