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Overcoming obstacles

Posted on Tuesday, July 9, 2019 at 1:29 pm

A rare enzyme disorder known as Fabry’s Disease is not recognized in most people’s lives as a possible life-threatening condition that can develop over time, but is well known to members of the Bowles family of the Northern Neck. Shanna Bowles of Fairport inherited the disorder from her mother and now lives her life with a quiet determination of grit and hope.

What is Fabry’s Disease?

Her quest for living a healthier and pain free life involves receiving two monthly intravenous sessions of Enzyme Replacement Therapy. Officially diagnosed in 2001 when ERT became available as the treatment of choice, Bowles was unable to begin her treatments until 2008 due to the extreme high cost of the therapy. An inherited illness, Bowles’ son was diagnosed with Fabry’s disease as well, and Bowles made the decision to forestall her treatments in lieu of her son’s treatments. The cost of the lifelong treatment becomes a burden to patients affected with the disorder.

This therapy is not a cure for Fabry’s disease but rather a continual process of replacing the deficient enzymes. This disorder causes a buildup of a particular type of fat, called globotriaosylceramide in the body’s cells due to a deficiency of an enzyme called alpha-galactosidase A. Beginning in childhood, this build-up causes episodes of pain, particularly in the hands and feet, a decreased ability to sweat, cloudiness of the front part of the eye, gastrointestinal problems, joint pain, hearing loss and ringing in the ears.

Complications such as progressive kidney failure, heart attack and stroke are a matter of course of the disease. By middle age, these life threatening complications can develop in untreated patients but are delayed in developing in patients receiving treatments.

For the full article, pick up the latest Northern Neck News 7/10/19

Shanna Bowles does not let her illness hold her back.