It is supposed to be one of the best times of parents’ lives.
Laura and Scott Van Doormaal’s daughter, Lucy, was born April 1, 2020.
She was perfectly healthy and after a few days in hospital, they took her home.
“We’re so in love and she’s the perfect addition to our family. So the news of her diagnosis was really devastating and shocking to us,” Laura told Global News.
She said Lucy was initially moving like a newborn usually would and sucking her thumb, but around two weeks old, she stopped being able to bring her thumb to her mouth and was unable to move her arms.
“From there, she basically completely stopped being able to move her limbs and (was) struggling to breathe,” Laura said.
The family later learned Lucy had been born without the SMN1 gene and was eventually diagnosed with spinal muscular atrophy, also known as SMA, which results in the loss of muscle movement.
“It is the most severe type and she is type one,” Scott said.
“I think for me, probably the part that sticks out the most in it all is when we searched afterwards and found out that the life expectancy is, she was likely not going to make it to her second birthday without intervention.
“And that really hit home.”
Lucy is a candidate for groundbreaking therapy that would give her the gene she’s missing.
However, the drug, called Zolgensma, has only been approved by the U.S. Food and Drug Administration so far.
Lucy does not have time to wait to get it approved in Canada, so the Van Doormaals have started a GoFundMe campaign to pay for the drug themselves.
But the trouble is, the drug costs $3 million.
Zolgensma is described as one of the most expensive drugs in the world.
But without it, Lucy’s life expectancy could be as little as two years.
Lucy already has to be fed through a feeding tube and requires a breathing-support machine while she sleeps.
She is currently on a different drug called Spinraza, whichcan slow down the progression of the disorder, but is not considered as effective as Zolgensma. Spinraza is also not a cure, and she would have to get the treatment for the rest of her life. It is also very expensive and will eventually cost more than Zolgensma.
No drug can fix the damage done by SMA, Scott added.
“You can’t re-fix things that are dead already, so any damage that’s already been done, is done. That’s why time is of the essence.”
“We need it now and every day counts because she’s continually losing function.”
Anyone wishing to help can donate to the GoFundMe for Lucy’s treatment and share her story with others.
“We need everyone’s support,” Scott said. “The $3 million is way out of our reach by ourselves.”