The death of Hunter Clark’s grandfather revealed mysterious characteristics of a rare genetic disorder, now affecting several family members.
By TJ Banes, IU Health Senior Journalist, tfender1@iuhealth.org
Hunter Clark looks up at his grandmother, smiles and says, “I love you, Grandma.” He pats her on the shoulder and snuggles in close for a hug.
The affection is mutual. As Clark recently completed an infusion at IU Health Simon Cancer Center, his grandmother, Patti Phelps, shared the story of her husband’s diagnosis, death, and how family members are coping with the same rare disease.
After the death of Phelps’ husband, her daughter, who is Clark’s mother, tested positive for Fabry disease. Clark, 23, an adult with Down syndrome, was also diagnosed with the disease. He is in Stage 5 kidney failure and is in the care of IU Health’s Dr. Kathleen Prag, a board certified nephrologist, and Dr. Bryan Hainline, who specializes in medical genetics.
According to the National Institute of Neurological Disorders and Stroke, Fabry disease is an inherited neurological disorder that occurs when the alpha-galactosidase-A cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to the body. The mutated gene causes lipids to build up to harmful levels in the body’s autonomic nervous system, as well as in the eyes, kidneys, and cardiovascular system.
“Everything he died of in 2020 can be taken back to Fabry disease,” said Phelps of her husband. At the time, family members were not aware of the symptoms and they didn’t have a name associated with the disorder.
Some of those symptoms include burning pain in the arms and legs, impaired circulation, enlarged heart, blurred vision, progressive kidney impairment, gastrointestinal difficulties, and red spots on the skin.
In Clark’s immediate family, each individual, diagnosed with Fabry disease is being treated for different symptoms. They see a host of specialists including cardiologists and nephrologists. His mother suffers from pain and numbness in her extremities. His younger brother has been treated for a rash on his arms and also has gastrointestinal issues. His younger sister has pain in her legs.
“My husband was never tested and throughout the years we knew something was going on because two family members had kidney transplants. My husband had severe headaches and seizures but no one could find out why,” said Phelps. “He also had heart attacks and strokes and even though he lived to be 70, we look back and see so many things that were associated with the disease. We are blessed to have found Dr. Hainline, who is familiar with the disease. Everyone we’ve dealt with at IU Health – patient advocates, navigators, financial reps, doctors, nurses, have been fantastic.”
As Phelps talks, her grandson plays a game, eats a sandwich and passes the time during a treatment he receives every other week for five to seven hours. Clark loves country music, hockey and watching the Indianapolis Colts.
With his kidneys failing, Clark will begin testing in preparation for transplant, said his grandmother.
“This has been a lot for all of us to deal. We’ve lost family members to the disease and others are fighting. It’s been a long road.”