A Regina family is working to raise awareness for an extremely rare disease, after their son became the first person in Saskatchewan to ever have it.

Mike Stumph and Heather Leask noticed their son Theo was somewhat behind in speech development, but a red flag was raised when he suddenly had a seizure and was rushed to hospital at the age of three.

“They told us, we don't really know why this happened and sometimes kids just have a seizure, but they kept happening and he went through a number of tests,” said Leask.

After that scare, Theo was diagnosed with CLN2 Batten Disease, which is a rare inherited, degenerative disease that affects the nervous system. It affects Theo’s mobility and will eventually cause him to go blind. Life expectancy can be short, but some people afflicted with the disease can survive into their adulthood.

“I think we are experiencing grief and types of grief, we try and stay positive,” said Stumph. “What happens is inside Theo's brain cells, the waste that is created inside every cell doesn't get flushed out, it doesn't get cleaned out, so he's missing an enzyme.”

There are only 14 cases of the disease in Canada and Theo is the only child in Saskatchewan with the disease.

Last July, he underwent brain surgery that allowed a reservoir and catheter to be put in his brain, which assists doctors inject the Enzymes Theo needs.

With the help of the Isaac Foundation and doctors in Saskatoon, he is the first child to receive Brineura treatment, which is an enzyme replacement therapy that slows down the disease.

“It was approved by health Canada in December 2018 and initially Saskatchewan didn't sign onto the agreement to be able to offer the treatment until Theo was diagnosed, it wasn’t' necessary," said Leask.

Now with the help of Theo’s daycare provider, the family is raising awareness about the rare disease, money to cover travel costs.

“We set a goal of $100,000 to give us a good start in what we will need for gene therapy,” said Leask.

Although each day is a challenge for the family, they said they will keep fighting for Theo, and continue to raise awareness to hopefully find a cure, through the Facebook page “Theo’s Challenge.”

“Theo himself is a source of inspiration because he just keeps fighting,” said Stumph.