Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
4D-310, a new gene therapy for Fabry disease that is being developed by 4D Molecular Therapeutics (4DMT), has been granted fast track designation by the U.S. Food and Drug Administration (FDA). This designation is given to investigational therapies that the FDA deems to have…
There are various blood tests that doctors can use to diagnose Fabry disease, a progressive genetic disorder caused by a mutation in the GLA gene. It can be confusing for patients and their families to understand what doctors are looking for and what the test results might…
Everyone performs their own balancing act to navigate the many facets of their lives. Most people have competing interests and needs of one kind or another. Finding the middle ground to keep everything in sync can be challenging. People with complex chronic illnesses like Fabry disease seem to have more…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
It can be very stressful — and dispiriting — to live with a rare chronic disorder such as Fabry disease, which leads to symptoms ranging from kidney and heart disease to eye and stomach problems. One way to help cope is through a practice called mindfulness. What is…
Pain, negative health perceptions, and certain coping styles for dealing with daily stressors are all linked to a greater incidence of depression among people with Fabry disease, according to a recent study. The study, “Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain,”…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…
Because Fabry disease affects multiple organs, patients are well advised to keep a comprehensive and personal treatment plan. Here’s what you should know about such a plan, including how to work with your primary physician to create one. What is a treatment plan? A treatment plan is a clear,…
I can count on one hand the number of people I consider my heroes. One of them is my 12-year-old daughter, Keziah. I interviewed her a few weeks ago, and I wonder if any of her views have changed since then. For two weeks, I…
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