Rare Disease Day – Laura and Xander’s Story

Rare Disease Day is an international event held on February 28 to raise awareness about the impact of rare diseases on people’s lives and to emphasize the need for research. Canadian families with rare illnesses are facing extraordinary challenges. These include misdiagnosis, unnecessary surgeries, social isolation, financial hardship and lack of treatment options.

Grandview Kids client, Xander, was born with a rare disease called Moyamoya. His mother, Laura, tells their story:

“At 10-months-old, my son had a seizure, which we then found out was a stroke. The stroke damaged the right side of the brain. We were searching for answers as this was completely out of the blue. Once the doctors did an MRI and an angiogram, they found out that he had a rare condition called Moyamoya. The meaning of “a puff of smoke” in Japanese. This is where the blood vessels in the brain narrow over time, and it looks like they have literally disappeared in the MRI.

His right side of the brain and left side were narrow, so it was decided that he get bilateral brain surgery to help with the blood flow and to help prevent another stroke from occurring. But after only being home for four days, he had another stroke, this time damaging his motor control on the left side.

We ended up at Holland Bloorview for rehabilitation, where they worked with him to gain strength back in his left side, mainly his left hand. Since having the surgery, he is doing much better, but the doctors still must watch to make sure that other parts of the brain are not narrowing as this is a progressive disease and there is no cure. 

As parents, it’s extremely difficult to deal with this diagnosis, but he has shown so much improvement. That makes it a lot easier to navigate his diagnosis and relax a little bit. We hope that one day there will be a cure.”