Bryan’s Story
Fabry Disease

Bryan smiling

December can be the most wonderful time of the year. For Bryan, December, 2017 was anything but. A dedicated music teacher, Bryan was eagerly preparing his students for the annual Christmas play. After weeks of practice, they were in final rehearsals for this holiday tradition.

While they were getting better, Bryan was feeling weaker. He was shaking while playing the piano and he had to sit down to conduct. He told himself to hold on. He didn’t know what was wrong, but promised himself that after the play, he would go into rest and recovery mode. The next day, Bryan wound up in the ER holding on for his life. This time he pushed himself too far. His creatinine levels were off the charts; his kidneys were barely functioning. The ER doctor wondered why Bryan knew he had Fabry, yet didn’t seek help sooner. This was Bryan’s wake up call. He quickly realized Fabry disease has to be managed or it will manage you.

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.

Bryan and three family members endured years with Fabry symptoms; mysterious, painful and unresolved. The path to diagnosis was long and frustrating, as it is for many patients. Bryan’s parents brought their oldest son, Levelle, to the doctor with excruciating pain in his hands and feet. The doctor’s assessment, “There is nothing wrong with him. He is making up it up. It’s growing pains and he wants attention.”

Finally, after years of suffering, the family doctor read about Fabry disease in a medical journal. The doctor called Bryan’s mother and recommended family members be genetically tested for Fabry. Four of Bryan’s seven family members were positive. Finally, they had a diagnosis; the mystery was solved, but the treatment journey was just beginning.

Even with a diagnosis, Fabry can be challenging to manage every day life. It is often described as an invisible disease; a person with Fabry often looks and acts normal until they cannot. For many years, Bryan didn’t tell people he had a rare disease because he didn’t want to be pitied. He didn’t want to be seen as different. In PE class, when he tried to keep up with his classmates running laps, his body overheated, his head throbbed and his hands and feet felt like stabbing needles. Still, the teacher insisted he keep up, debilitating disease or not. From that painful episode, Bryan decided to keep Fabry to himself. He just told people he was sick. “Sick” covers a whole range of problems and didn’t single him out as being less than or different. Unfortunately, middle school PE presented the same challenges. Bryan knew many doctors didn’t know about Fabry disease. He was now finding out Fabry was invisible to others, too.

In 2003, an enzyme replacement therapy was approved for Fabry. Bryan headed to an infusion clinic twice a month for treatment. Bryan didn’t want Fabry and he didn’t want to tell others he had it. Some of his colleagues couldn’t understand why Bryan got to “skip school” every two weeks.

Bryan

The turning point came after his frightening trip to the ER. Bryan made it his mission to share his story and let others know a rare disease can and will attack from the inside.

It may not be visible, but it is powerful. At one point, Bryan was on dialysis for two years due to kidney failure, a side effect of Fabry. Desperate for a new kidney, he posted about his medical condition on Facebook. Bryan was astonished when a complete stranger stepped up and donated her kidney. Because of her, Bryan has a new lease on life. What is he holding on for now? A trip to the Amalfi Coast, Barcelona or his brother’s house to see his great nephew run into his arms and hug him. For Bryan, living with Fabry, the most wonderful time of the year is now.