STOW — Genetic diseases — those linked to a person’s DNA — were once considered untreatable, as family members were tested and counseled with limited choices.
Now, new breakthroughs in gene therapy may offer hope for a cure.
For one Stow family, that hope can’t come soon enough. Mike Collins, 28, didn’t show any signs of the genetic mutation he inherited from both parents until he was 6 years old. Neurological symptoms began slowly with blurry vision and quick arm jerks, progressing to grand mal seizures that became worse with age.
He often fell, suffering cuts, bruises, broken bones and concussions. In 2017, he was diagnosed with Unverricht-Lundborg disease by University Hospital’s Center for Human Genetics. Now Collins sits in a wheelchair waiting for a possible cure through gene therapy.
Mike’s mother, Michele Collins, is executive director and founder of Hope for ULD and is raising funds for research for those born with Unverricht-Lundborg disease.
“In the last years, a major discovery was made of a harmless virus called AAV that dwells in humans,” said Dr. Berge Minassian, director of gene therapy at the University of Texas Southwestern Medical Center. “It was then shown that the gene in a brain genetic disorder can be packaged in this virus, and the virus will function as a delivery truck to deliver the gene to the cells of the brain, making the cells complete again.”
Many diseases, especially brain diseases, are caused by single gene defects, Minassian said. In other words, of the thousands of genes that contribute to the brain’s functions, one is missing.
“At this time, the AAV viral technology is such that gene therapy can treat single-gene defect diseases,” Minassian said. “However, the experience garnered in these diseases is setting the stage for someday treating the more complex common diseases with gene defects in multiple genes.”
Like ULD, Huntington’s disease is another with a single gene defect. Multiple gene defects at the same time can cause Alzheimer’s disease or autism.
Michele Collins taught school in Twinsburg for 15 years — but as Mike’s symptoms worsened, she quit her job with the district to care for him. By the age of 19, Mike had relentless epileptic seizures, jerks and twitches. Bright lights, crowds, noises and even thinking caused seizures.
“Medication kept them under control at first,” Michele Collins said. “He was starting to have so many difficult emotional and physical side effects, doctors added a fourth medication to control the side effects.”
Those side effects included constant tremors, brain fog, severe stomach and head pain, suicidal thoughts, severe depression and fatigue.
Throughout school Mike Collins was able to participate in sports and worked in a grocery store, but he lost coordination over time, Michele Collins said.
The illness has taken a toll on Mike, said his father, Kerry. Mike was one of the best baseball and basketball players, but his skills declined rapidly. He would stand at the plate and couldn’t get out of the way of the pitch because the medicine made his reactions so slow.
“He’d have a giant muscle jerk and land on his face,” Michele Collins said. “He’s 6 foot 2 and went down like a tree and had no way to stop himself. He’s had a lot of injuries and a lot of concussions.”
Previous genetic testing showed nothing, and the family had no real answers early on, Michele Collins said. They did not know ULD was a progressive disease, and Mike Collins was suffering more and more.
Mike Collins started having difficulty talking and swallowing, she said.
“He’s gotten depressed because he can’t play sports, work and have a girlfriend like others,” Kerry Collins said. “It’s a psychological battle. When he has seizures, he is upset. I don’t know if he believes in being cured.”
Michele Collins spent many hours contacting researchers all over the world, desperate to find a way to alleviate Mike’s suffering — which led her to Minassian.
“He, along with molecular biologist Dr. Steven Gray, is developing gene therapy for devastating single gene epilepsies,” Michele Collins said. “They are working on various diseases, in various stages of research, several [are] about ready to go to human clinical trials this year.”
It is the Collinses’ hope that Mike can be part of those trials.
About a year ago, Michele Collins said she located other families who were interested in pursuing gene therapy for their loved ones, and founded Hope for ULD.
So far, the group has raised $27,000 and would like to reach $100,000 to begin research, which costs $300,000 for the initial phase, Michele Collins said.
Michele Collins says Hope for ULD is working on an upcoming fundraising dinner. For more information or to give, go to https://www.hopeforuld.org/ or firstname.lastname@example.org.