Jerry's Fabry Disease Blog

Keeping the Fabry community informed

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Jerry's Fabry Disease Blog was created to spread awareness about Fabry disease, a rare genetic disorder, and to share news and information about what is happening in the Fabry community. The blog is one component of the National Fabry Disease Foundation's social networking program.

When I was diagnosed with Fabry disease, like many who were diagnosed years ago, females who tested positive for the GLA gene were informed they were obligate carriers only for Fabry disease. This meant they could pass the disease to their sons and daughters but they would not develop symptoms. Fabry disease was described in medical literature as having an X-linked recessive inheritance pattern which we now know is incorrect. Now, Fabry disease is simply described as an X-linked inheritance pattern, not recessive. As a result of this situation, many women who were experiencing a wide range of Fabry disease symptoms were not taken seriously by their family members, their friends, or their physicians. Females were told they did not require the treatment that has been available since 2001 in Europe and 2003 in the U.S. Many females still struggle to get appropriate management and treatment because their physicians are not up to date with current research. This must be very frustrating and disheartening. Thankfully, the myth of carrier only females for Fabry disease has long since been dispelled for those paying attention. We must continue to spread this message to those who remain uninformed. The term "carrier" is still an appropriate genetics term for people with an X-linked recessive inheritance pattern, just not for Fabry disease. The other term some people seem concerned about when describing Fabry disease is "rare". With several newborn screening study reports indicating the real incidence of Fabry disease is many times higher than historical estimates including later-onset forms of Fabry disease, the term rare seems inappropriate to some. When you are surrounded by people with your disease either in person or on a large internet discussion page, and you know it is severely under-diagnosed according to medical literature, it seems impossible that Fabry disease is classified as rare. Technically, Fabry disease will likely remain listed as a rare disease according to the Federal Drug Administration (FDA). The FDA's definition of rare is any disorder with a U.S. population under 200,000 people affected. So, we may have to retain the term rare in our Fabry disease vocabulary, that doesn't mean there are only a few of us. There are thousands of us hiding across the U.S. and around the world waiting for an astute physician or individual to recognize the symptoms of our disease and give unsuspecting people an opportunity to manage their disease toward better and longer lives. Proudly serving the Fabry community. Jerry Walter