Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…
When I received my rare chronic illness diagnosis, I felt like I was all alone in the world and nobody truly understood what I was going through. My friends and family felt sorry for me, but they didn’t understand the extent to which my condition affected my life. I was…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Editor’s Note: This column discusses the sensitive topic of suicidal ideation. The moment doctors diagnosed me with myasthenia gravis (MG), they prescribed me antidepressants. It didn’t make much sense to me at the time. I thought a diagnosis would result in treatment that would restore the life I…
Women with myasthenia gravis can safely undergo normal vaginal delivery and avoid a cesarean section with the help of epidural labor analgesia (ELA) to minimize fatigue associated with childbirth, a study says. The findings of the study, “Management of labor and delivery in myasthenia gravis:…
I have been housebound since my stem cell transplant and was starting to get rather crabby about the whole situation. I am used to independence — visiting friends and going to work — so this has been a very trying time. However, it has also been good…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
A vast majority of patients with myasthenia gravis (MG) responded to treatment with plasma exchange and half experienced symptom relief, according to a study. The findings also showed that men and patients with late-onset MG were more likely to have successful response to the treatment. The study, “…
Last weekend, I watched the movie “Wonder” again — for probably about the fifth time. The first day it was released in South Africa, I sat in the cinema crying my eyes out. Since then, I have watched it whenever I have spotted it showing on the television, as…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
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