Mary Chapman, features writer —

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…

Raising awareness of rare chronic disorders such as Fabry disease could mean more patients benefiting from earlier diagnosis and treatment. Here are some points about Fabry disease, and efforts to make it more widely known. What is Fabry disease? One of about 7,000 known rare diseases, Fabry…

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…

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…

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,…

Fabry disease can lead to problems at home, school, work, and everyday life. The disorder affects your whole body and can cause intense bouts of pain, a skin rash, and progressive loss of vision, hearing, and kidney functions. Your journey can be overwhelming and difficult to explain. A metaphor…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases…