Niagara couple anxious to learn if baby son qualifies for medical trial
These are tense times for Bryce and Rachel O'Hagan.
Any day now, the Beamsville couple is expecting news that could change their baby's life forever.
They've taken Beau to numerous doctors because at 17 months he met most of his milestones but still wasn't walking.
On March 1, our pediatrician called - and I'm eight months pregnant - so she called us and asked if I was alone and I said, No, my husband is here.'
She said, OK, can you put me on speaker phone. And I need you both sitting down.'"
When she hung up, Rachel could barely breathe.
Then she blacked out.
The doctor said Beau has spinal muscular atrophy, or SMA, a progressive genetic disorder that affects the nervous system and muscles. It can cause an inability to stand, and lead to difficulties chewing, swallowing, even breathing.
To say that I'm OK - I don't think I could answer that," Rachel says. We're just kind of waiting to be woken up from this dream."
One in 6,000 to 10,000 babies are born with SMA. In the most severe cases - of which Beau is not - most children don't survive beyond their fourth birthday.
At the other end of the scale, Rachel says she knows of some in their 20s who received no treatment and could walk, while others experience deterioration.
Their doctor said Beau has a 90 per cent chance of qualifying for a medical trial using the drug Ristaplam. They're expecting the news any day.
It will be expensive, though: If accepted, he would be in the program until he turns four and the cost is about $275,000 per year.
The doctor is very optimistic, he thinks he can make a big change for Beau," Rachel says. But it's just seeing if we're approved."
Bryce owns a hockey school based in Burlington; his friends have started a GoFundMe site that has raised $60,000 so far. Rachel is a special education teacher, and her co-workers are raising money, too.
With basically no government funding support, SMA is known as one of the most expensive illnesses to have.
Now they are worried about baby number two: Rachel says there is a one-in-four chance he or she could be born with SMA, too.
She says Beau's pregnancy was very normal ... he was just a really good baby, completely normal in his first year, he met all his milestones."
He's very, very social" and was using sentences before most other kids his age.
It wasn't until his first birthday when all the other kids were walking, and we were like, Hmm.'"
But Rachel was delayed walking when she was little, too. Plus Beau is big for his age.
Everything else looked good. Everyone said just give it time.
Then a couple of days before Christmas, they met with a pediatrician and within 10 minutes she said, Nope, your son's brain is not communicating with his spine.'
Oh my god, I was expecting her to be like, He has a milk allergy and it can be fixed.' I wasn't expecting something that extreme."
She and Bryce do physiotherapy and hydrotherapy with Beau every day, moving his legs. Beau has hand tremors and has to be carried everywhere, but is making gains, she says.
Beau is in the category of a sitter, so whenever we go to appointments everybody talks about how strong he is because he sits up nice and tall," she says.
He wasn't bearing weight on his legs, but now that he's been in physio ... probably for the last two or three months he's started being able to bear some weight on his legs" though he's not able to stand.
Despite the uncertainty over the medical trial, she says they are staying positive.
We want to get him into treatment before the second baby comes, just so we can start seeing the gains before then."
Gord Howard is a St. Catharines-based reporter with the Standard. Reach him via email: gord.howard@niagaradailies.com