Living with Fabry Disease

Fabry disease is a rare progressive, genetic disease affecting 1 in ~40,000 people. It’s prevalence may be much higher and is commonly mis-diagnosed as MS. It’s a type of disease called a lysosomal storage disorder (LSD). People with LSDs have problems making specific lysosomal enzymes. In Fabry, the affected enzyme is a-galactosidase A (a-Gal A). Usually, a-Gal A breaks down substances in the cell called GL-3 and plasma lyso-Gb3. In people with Fabry, a-Gal A does not break down GL-3; instead, GL-3 builds up, particularly in cells lining blood vessels. This buildup damages tissues and organs leading to the symptoms of Fabry disease, especially in the brain, heart, and kidneys. There are over 1,000 known genetic variants of Fabry that present themselves differently in patients; even within families with the same variant.

My mother and I were diagnosed with Fabry in 2010 after a routine eye exam where the doctor noticed the presence of “corneal whirls.” This lucky realization allowed us to pursue treatment and over six years of participation in a successful clinical trial for a breakthrough therapy. My symptoms from an early age have included fatigue, neuropathy with burning in the hands and feet, pain crisis, chronic pain, intolerance to heat, cold, or exercise, vertigo/dizziness, imbalance, hearing loss, tinnitus, osteoporosis, limited sweating, and irregular heartbeat. I rarely let any of this hold me back, and find that energy healing can greatly reduce these symptoms. Part of my life’s mission is to advocate for patients with rare diseases and share the benefits of energy modalities as a supplemental natural treatment option.

Source: NORD & Amicus Therapeutics