The eldest of four California siblings knew something was amiss when he was in his teens and having trouble skating during his ice hockey training.
Tim DeMint initially thought it was weak ankles, but then he had trouble catching a football, MyFoxLA.com reported. It took doctors five years to diagnose now 31-year-old Tim with a form of the rare neurological disorder ataxia.
“Ataxia is a problem with balance that is due to dysfunction in the balance center of the brain or its connections to the inner ear or spinal cord,” Dr. Susan Perlman, UCLA professor of neurology told MyFoxLA.com.
When Tim’s two younger brothers, Peter, 23 and JT, 21, entered their teens, they too began to experience symptoms of the disease like body tremors, loss of balance and slurred words, which lead to their eventual diagnoses.
“It makes it hard to breathe sometimes and whatnot,” JT told MYFoxLA.com. “It gave me really, really bad social anxiety as well.”
The boys’ sister Amanda does not have the disease, MyFoxLA.com reported. The brothers’ parents, Cindy and Gerald were high school sweethearts and were shocked to learn that they both carry the ataxia gene. No other family members on either side have the disease.
Currently 150,000 are affected by the disease, for which there is no known cure. Eventually, the affected nerve cells begin to function poorly and ultimately degenerate, resulting in muscles becoming less and less responsive to commands from the brain. This causes the coordination problems to become more pronounced, according to The National Ataxia Foundation.
The family now works together to raise awareness for the disease, which is also associated with poor vision and depression. All three are largely reliant on wheelchairs so the family has made adjustments to their home, MyFoxLA.com.
The De Mint’s travel to UCLA Medical Center from their Orange County home twice a year for check-ups, and the brothers are taking part in stem cell research. Weight training and keeping a healthy diet also helps with their balance issues.
They also take medicines to curb tremors. “I think it’s reasonable in the next five years we will have at least one disease modifying therapy based on gene therapy where we do something to interfere with the bad activity with the mutated gene,” Pearlman said.
The DeMint family has founded and organized an Ataxia awareness fundraiser through the annual “Walk and Roll,” and started the brother’s started their own Facebook page, “Brothers on A Quest.”