A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
Protalix BioTherapeutics and Chiesi Global Rare Diseases have launched an expanded access program (EAP) in the U.S. for PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy…
There currently is no cure for Fabry disease, but there are treatments available to help manage the symptoms of the disease. Two, Fabrazyme and Replagal, are very similar forms of treatment called enzyme replacement therapy (ERT). Sanofi Genzyme developed Fabrazyme; Shire, now owned by …
The American Kidney Fund (AKF) has opened a Fabry disease education and awareness campaign that encourages people with chronic kidney disease (CKD) who don’t know the underlying cause of their disorder to get tested for Fabry. The effort is in partnership with Sanofi Genzyme, and expands on…
Having a chronic condition such as Fabry disease can be particularly concerning if you are living alone. However, there are steps you can take to help you live well and independently. Get educated With a chronic disease, you are in a different place than someone with an acute illness. You…
What is my job as a parent? In thinking this question through, I came up with a few answers, but it’s not an exhaustive list. I am to protect, guide, teach, and love my kids. At some point, the protection I give them will lessen. They will be…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
If you or your partner has a family history of Fabry disease, you may want to lower your risk of passing the disease to your children by choosing in vitro fertilization (IVF) and requesting a preimplantation genetic diagnosis. How do children inherit Fabry disease? Mutations in the GLA…
In times of emergency, telemedicine, home-based treatments, and lab tests should be adopted whenever possible to help people with Fabry disease manage their condition while ensuring their safety, an observational study in Italy suggests. The study, which focused on analyzing the clinical outcomes of Fabry patients during the…
It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.  “The hardest…
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