EDITOR’S NOTE: This article has been updated to more clearly state that while Zolgensma is a treatment option, it is not a cure for SMA.
Max Sych is just weeks shy of his second birthday, and the little boy has already been through a lot.
His mom Bryarly Parker gave birth at only 25 weeks. Max was born weighing one pound and 11 ounces. He underwent several blood transfusions and a bedside surgery. He also endured a brain bleed, required respiratory therapy and was discharged on oxygen.
Max finally went home in Fairview Alta., and started to develop at a normal rate in accordance with his adjusted age. He was hitting all the milestones. But when he turned one, there was a change.
“At about 10 months, he was standing and walking with assistance… a little bit,” Parker said. “He would push a little cart, and he was doing a great job.
“All of a sudden, probably a month and half later, he stopped putting any weight on his legs at all.
“When we would go to hold him and walk him a little bit, he would arch his back, and he didn’t want to do any of that.”
At first, Parker and her husband, Bowden Sych, thought he was regressing because Max is a premi (a baby born prematurely).
“The comments we had gotten was ‘Oh, he is a premi,’ or you know, ‘Kids don’t walk until they are two, so just don’t worry about it,'” she said.
After a little bit of time, Parker and Sych knew something wasn’t right, and took their son to a neurologist.
“She (told us), ‘I think he has spinal muscular atrophy,'” Parker said.
After a week, Max was diagnosed as having the disorder.
“You basically have your whole life shattered in a day,” Sych said.
According to Cure SMA Canada, SMA is a rare disorder that affects about one in 6,000 babies and causes muscles to waste away.
Patients are generally grouped into one of four categories based on certain key motor function milestones: types 1, 2, 3 and 4. Type 1 is the most severe form of the disorder while Type 4 the least severe.
Most children with Type 1 SMA die of respiratory issues before their second birthday. Max has Type 2, and life expectancy for children in that category can be normal.
In Canada, Max has access to Spinraza for treatment. The prescription drug could be given to Max for his entire life, and it can increase survival and motor function.
It’s a good option, but his parents want Zolgensma, which offers the benefit of a one-time dose and would replace the faulty gene at the root of the disorder. Studies show 91 per cent of patients who received the one-time infusion were still alive at 14 and 18 months, with no need for permanent breathing support.
But it is not funded by Health Canada, and it costs $2.8 million.
Another barrier is that Zolgensma is only approved by the U.S. Food and Drug Administration for babies under age two because it is deemed too risky in older children.
That means even if Canadian families can be approved through Health Canada’s Special Access Program, the age limit would likely remain.
“The medication that is available is $120,000 a treatment, every four months. It slows the progression, but it’s not a cure or replacement therapy,” Sych said.
“A one-time payment of $2.8 million, seems a lot but in the long run is cheaper.”
The family is raising money to get Max the treatment. A GoFundMe page has been set up. Max’s second birthday is Jan. 11, but since he was born premature, he may have more time to still receive it.
“We basically had a great group of friends and family who said failure is not an option and they are going to get us to our goal,” Sych said.
“Everybody is saying they will do whatever it takes to get Max treatment.
“There should just not be a cure that we can’t access in a first-world country.”
This is the fourth case of SMA that Global News has reported on this year alone.
Harper Hanki from Spruce Grove, Alta., has won a lottery being run by a pharmaceutical company to receive a multi-million-dollar treatment.
Little boys Reign Johnston and Kaysen Martin both have the same rare disorder and their families say they both need the expensive drug.