Fabry disease,a rare genetic disorder, is due to mutation in the GLA gene that prevents the body from making an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that the body’s cells can use. When these fat molecules are not broken down due to lack of alpha-galactosidase, they build up inside the cells and cause damage. Fabry disease has a wide range of symptoms including chronic pain, hearing loss, gastrointestinal problems, kidney damage and a decreased ability to sweat.
Elizabeth’s family has a long history of Fabry. Her grandmother, uncle and father all underwent genetic testing and were all shown to have the GLA mutation. Following complications from a kidney transplant, Elizabeth’s grandmother died at 42. Elizabeth’s 6 ft. uncle weighed less than 100 pounds when he died due to complications from Fabry. Thankfully, her Dad’s illness wasn’t as serious; his symptoms included heat intolerance, neuropathy, and angiokeratomas, red spots on the skin.
Given her strong family history, Elizabeth underwent genetic testing when she was eight years old. Her Fabry diagnosis prompted her Dad to speak with her about Fabry and Victory Junction, a summer camp for ill children. Elizabeth wondered why her Dad told her about this camp; she didn’t feel ill. She was excited about the horseback riding and archery! Elizabeth attended Victory Junction summer camp four years in a row. When her Fabry symptoms started to appear she started to realize why she was there. Physical exertion became increasingly more difficult. As much as she loved this special place, she’d been denying her place in this community, not wanting to believe that she too had this disease. Once Elizabeth accepted Fabry was there to stay, her outlook started to change. Returning from camp, her symptoms persisted at school and at home. A trip to the amusement park on a hot summer day pushed her to the limit. Her Dad rushed her back to the hotel room. She was exhausted, her stomach turning, her head throbbing and the room was spinning. Too weak to stand in the shower, she lay on the shower floor, letting the cool water wash over her. The impact of Fabry was so real that day. At school, exercise was becoming unbearable. Even with a note from her doctor, the PE teacher insisted she run a mile with the rest of the class. It made her sick every time and her symptoms persisted through the next class too. It’s part of the challenge of living with Fabry; the symptoms are invisible, until they’re not. At 13, neuropathy set in; painful bouts of pins and needles in her feet, forcing her to sit down and wait for it to pass. Elizabeth’s other Fabry symptoms include vertigo, stomach pain, constipation and tinnitus, ringing in one or both ears.
At 16, Elizabeth decided to start enzyme replacement therapy. While most of her high school friends headed off to lunch, Elizabeth headed to the infusion clinic twice a month. The pre meds were difficult to tolerate, but Elizabeth found a way to make it work. On treatment days, she’d miss school and couldn’t complete her homework.
Although Elizabeth is grateful she had access to treatment, she wished it didn’t interfere with her life as much. Time spent at the infusion clinic is time away from a teenager’s life; school, friends, work. At 18, Elizabeth is working to manage her Fabry, advocate for the Fabry community, yet not be defined by her disease. Elizabeth recognized her Fabry symptoms early due to family history. Early diagnosis and treatment has made all the difference, a benefit her uncle and grandmother didn’t have. Thanks to medical advances, Elizabeth is optimistic about her future. Elizabeth wants to see the day when a cure is found and being sick is no longer a part of her identity.