If you have Fabry disease, you may need to see a multidisciplinary team of healthcare providers in addition to your primary care physician. Fabry disease is a rare genetic disorder characterized by the buildup of a fat molecule called globotriaosylceramide (GL-3 or Gb3) in the blood and tissues of the…
Living with a chronic disorder such as Fabry disease can lead to anxiety, stress, and feelings of isolation. Recreational therapy may help to improve your psychological and physical well-being. About Fabry disease Fabry disease is a progressive rare genetic disease that results from the abnormal buildup of a type…
Using a new harmless version of an adeno-associated virus (AAV), scientists successfully delivered a human version of alpha-galactosidase A — the faulty enzyme in people with Fabry disease — to different tissues and organs, including the brain, of a mouse model of the disease. According to the researchers, these…
People with Fabry disease frequently experience sleep problems. Because a good night’s sleep is essential to physical and mental health, as well as your quality of life, it may be beneficial for you to practice sleep hygiene. About Fabry disease and sleep disturbances Researchers don’t understand exactly how Fabry disease causes…
More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
With data now reaching up to 3.5 years, benefits are continuing to be reported with the use of AVR-RD-01, Avrobio‘s experimental gene therapy for Fabry disease, in Phase 1 and 2 clinical trials, the company announced. Avrobio plan to meet with the U.S. Food and Drug Administration (FDA) to…
As a boy, I wasn’t aware Fabry disease caused the many physical issues I experienced, such as a reduced ability to perspire (called hypohidrosis), intolerance to hot temperatures and strenuous physical activity, pain (acroparesthesia) from small fiber neuropathy, and chronic gastrointestinal (GI) issues (mainly diarrhea). I overheated…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
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