Upon my diagnosis of having Pompe disease, the doctors told me very little about the disease and how it would affect me.

Pompe disease is classified into 2 different types based on the age at which you were diagnosed, early-onset or late onset. Rare Disease Advisor, a trusted source of medical news and feature content ...

Important gains were observed in key areas, including basic theory, transfusion compatibility testing, and clinical transfusion application. A structured 6-month fellowship program in transfusion ...

As a patient with primary biliary cholangitis (PBC), I would never participate in a clinical trial for a new medication that would treat my PBC.

Test Your Knowledge About Eteplirsen for the Treatment of DMD Test Your Knowledge About the Treatment of DMD Test Your Knowledge About the Epidemiology of DMD Test ...

SMA is a rare disease with an estimated incidence of 1 in 10,000 live births. The prevalence is estimated to be approximately 1 to 2 per 100,000 persons and is influenced by the drastically shortened ...

The pathophysiology of Duchenne muscular dystrophy (DMD) revolves around the lack of functional dystrophin, which results in a fragile, permeable cell membrane and the dysregulation of calcium ...

Most participants remained bleed-free across both studies, and all reported bleeds were managed effectively. FRSW117, a novel investigational therapy for severe hemophilia A, showed promise as a ...

(L-R) Rare Disease Advisor senior correspondent Larry Luxner, patient columnists Alithea Athans, Tara Keith and Tom Bartlett, and director of advocacy relations Vera Luxner (Photo by Riya Ajmera) ...

My recent liver biopsy was a case study of Murphy’s Law in action. And as I share the details of my saga, I’m mindful that my experience is the exception, not the rule. I do not want to discourage ...

Pediatric patients with ALL experience, on average, about 15 different symptoms in their chemotherapy journey. Pediatric patients with acute lymphoblastic leukemia (ALL) experience a wide range of ...

Yiannis Papazoglou is one of only 40 people in the world with a mutation of the IRF2BPL gene. Foundation Aims to Help Patients With Rare Diseases—Even Before They’re Recognized The Undiagnosed ...