Author Archives: Brian Murphy, Ph.D.

Respite Care for Fabry Disease

Being a primary caregiver for a patient with a rare disorder like Fabry disease can be physically, mentally, and emotionally draining. As this disease progresses, patients also tend to become more and more dependent on care. Respite care offers caregivers time in which to take a break, relax, and…

FAQs About Fabrazyme for Fabry Disease

Fabrazyme is an approved treatment for Fabry disease patients age 8 and older. It was developed by Sanofi Genzyme. Following are answers to some frequently asked questions about the treatment. How does Fabrazyme work? Fabrazyme is an enzyme replacement therapy. In patients with Fabry…

Fabry Disease and Hearing

Hearing loss and vertigo are common symptoms of Fabry disease. This article discusses how Fabry disease may affect your hearing, and looks at ways that doctors may diagnose and treat hearing problems. How do hearing and balance work? Hearing is a complicated process that involves multiple structures in…

Fabry Disease and the Heart

Fabry disease leads to heart complications in more than 50% of patients. Here is more information about these complications and how doctors diagnose and treat them. Heart problems in Fabry disease Patients with Fabry disease may experience a number of cardiac problems. The most frequent is left ventricular hypertrophy,…

Multidisciplinary Care Team for Fabry Disease

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…

Fabry Disease and Sleep

Sleep disorders are common in people with Fabry disease. Here are some explanations as to why disturbed sleep affects these patients, with suggestions of ways to possibly address sleep issues. What is Fabry disease? Fabry disease is a rare metabolic disease caused by mutations in the GLA…

Fabry Disease and Seizures

Patients with Fabry disease may develop neurological symptoms, including seizures. While rare, these can be life-altering. Following is information about how Fabry disease and seizures may be linked. What is Fabry disease? Fabry disease is a rare genetic disorder caused by mutations in the GLA gene. This gene contains…

Fabry Disease and Anesthesia

People with Fabry disease may need, at some point, to undergo medical procedures that require anesthesia. Here is information about the different types of anesthesia, how Fabry disease may complicate their use, and precautions doctors should take before and while using them. What is anesthesia? Anesthesia is the use…