The Korol family have a long road ahead of them.
Eight-year-old Thomas Korol is like most kids his age. He’s playful and energetic, but unlike his peers, he was diagnosed with Alstrom Syndrome last year. It’s a rare genetic disease that usually starts with vision problems, and can lead to heart problems, hearing loss, diabetes, progressed bone development, and the early onset of puberty.
There are only roughly 800 people in the world diagnosed with the genetic disease, and there are only two known cases in Saskatchewan.
Like most people with Alstrom’s Syndrome, Thomas’ first symptoms began with vision problems. He has extreme sensitivity to light and could face a future with no sight. He also shows signs of early puberty, advanced bone development, and behavioural issues.
“It was a really tough day to absorb all that news,” his mother, Aline Korol said. “I go through my mind thinking, ‘what can I do for him?’ and I feel like it’s never enough.”
The disease is rare, but its affects can be far reaching.
“It’s a monster that is within our beautiful children. It manifests itself in every part of the body from head to toe,” said co-founder of Alstrom Syndrome International (ASI) Canada, Sandra Hubbard-Lelanc.
In addition to the problems Thomas suffers, Alstrom Syndrome can also cause diabetes, scoliosis, and serious problems with the heart, liver, kidneys and bladder.
Because symptoms are so varied and don’t always occur all at once, diagnosing the disease is difficult. For those that actually reach an accurate diagnosis, the outlook can be grim. In the past, many with the disease haven’t lived beyond 20 years old.
International research is trying to change that.
“Children like Thomas have a better chance of living a full life, quality of life with the early interventions and everything that has to be monitored by their family doctor and their multitude of specialists,” Hubbard-Lelanc said.
“That’s all we want for Thomas and we’re doing all we can for him to have the fullest life that he can have,” his mother said.
Across Canada, it’s estimated that only 40 people are diagnosed with Alstrom Syndrome.
The Korol family knows they have an uphill battle ahead, but they said they’re grateful to have Thomas in their lives, and will simply take things one day at a time.
