Theo Stumph is literally “one in a million”. In 2019, at the age of four, the Regina youngster was diagnosed with CLN2 Batten Disease, which is a rare degenerative disease that affects the nervous system. There have only been a handful of cases of the disease reported in Canada, and Theo is currently the only one in Saskatchewan. It affects his mobility and will eventually cause him to go blind. The life expectancy of children with CLN2 Batten is between six and 12 years.
“Obviously, we were devastated when we received the news,” says Theo’s mom Heather Leask. “As a parent, you can never prepare yourself for something like that.”
In July 2019, Theo underwent surgery to insert a reservoir and catheter in his brain. That enables doctors to inject the enzymes Theo needs directly into his brain every two weeks at Regina’s General Hospital (RGH). He is the first child in Saskatchewan to receive the Brineura treatment, which is an enzyme replacement therapy that slows down the disease. He initially had to travel to Saskatoon every two weeks, but has been receiving treatments in Regina since May of this year.
“Before starting these treatments, Theo was having seizures up to two or three times a week,” Heather explains. “Now he might get a seizure every two months, and they are much shorter and he recovers quickly.”
Theo’s family is grateful for the support they’ve received from friends, family and members of the community, who contributed to fundraising efforts to help offset the costs of the treatment, and a trip last year to Columbus, Ohio – home of Dr. Emily De Los Reyes. Dr. De Los Reyes, North America’s leading specialist in Batten Disease, was impressed with the results of the enzyme treatments, and also recommended a heavy regimen of physiotherapy and occupational therapy.
“We’ve been very happy with the results Theo has achieved working with his physical therapy team at Wascana Rehabilitation Centre (Wascana Rehab),” Heather says. “They did a great job of working with him in person, until the COVID-19 pandemic hit. And even now, they follow up regularly with us and his school. I also have to commend the team at RGH for the care and compassion they show him when he has his treatments. They even have a child life specialist who makes sure Theo’s stay at RGH is positive. We’re so grateful to have such wonderful support, right here in Regina.”
Although each day is a challenge for the family, they say they will keep fighting for Theo, and continue to raise awareness through their Facebook page, “Theo’s Challenge.”
“Considering everything he’s gone through, Theo is a remarkably happy child,” Heather continues. “He loves being around people and nothing seems to get him down. He’s the toughest person I know.”
“Theo’s story is a reminder of the importance of funding the highest quality health care, right here at home, for our children,” says Dino Sophocleous, president and CEO, Hospitals of Regina Foundation. “By supporting the efforts of his local medical and rehab teams, our donors are making a difference in Theo’s life every day, and the lives of many children across southern Saskatchewan every year.”