Toronto baby diagnosed with extremely rare condition seen in less than 250 people worldwide

Baby diagnosed with extremely rare condition A Toronto baby has been diagnosed with an extremely rare condition that's only been found in about 250 people worldwide.

TORONTO — Toronto chef Matt Kantor and his wife Alana Kayfetz are getting a rapid medical education after their youngest son, Henry, was recently diagnosed with an extremely rare condition.

"Henry has a genetic syndrome called Myhre Syndrome. It affects between 200 and 250 people in the world," Kantor told CTV News Toronto.

Dr. Gregory Costain, a metabolic genetics specialist at Toronto’s Hospital for Sick Children, said it was first discovered in the 1980’s and a test for the condition was only developed in 2012.

Myhre Syndrome is a degenerative condition that affects the connective tissue in the body.

“Over time, things become stiff and they tighten and so major organs from our heart and the vessels that come out of it, to our airways, to our joints, and our skin are compromised and there can be these life-threatening complications,” Costain said.

The first sign of serious trouble happened last November when Henry was just four months old. He suffered heart problems that required back-to-back surgeries.

Kantor and Kayfetz spent so much time at Sick Kids, they created a fundraising campaign called Mom Halo when they thought their ordeal was over. The goal was to raise a million dollars.

It will be used to build a new Parents Lounge for the world renowned medical centre, which is currently building a new hospital.

That was before they got the diagnosis of Myhre Syndrome.

Henry, now 10 months old, is alert, active and good-natured – they call him Happy Henry – but his parents know tough times are ahead.

Henry is on several medications and uses a feeding tube.

Kayfetz calls him "gorgeous" but says "he's quite small in stature and he's missed many of his developmental milestones."

Their goal is to get Henry to 15 pounds by his first birthday in July.

"We hope that he can be independent like the rest of us, and that he can be happy," Kantor said. "And that's all you can ask of anybody. But I think he's going to have more challenges with it and we're going to need more help in how to get him there."

The family has started a GoFundMe campaign just this week, knowing that he will likely need thousand of dollars in therapies in the future.

After just one day, it had already topped $60,000.

The one advantage that Henry has over most other Myhre Syndrome patients is that he was diagnosed at such a young age. His medical team hopes that they can stay ahead of his illness by anticipating his health needs before they become problems.