Parenting

Canadian Baby Born With Rare Genetic Disease Receives $3 Million Treatment For Free

One Canadian family has received a lifesaving gift just in time. 

Lucy Van Doormaal was born with spinal muscular atrophy (SMA), a genetic disorder characterized by a loss of specialized nerve cells, which causes weakness and degeneration of the muscles. Without treatment, she was not expected to live past two years old.

When Lucy was born in Vancouver in April she was a perfectly healthy baby until her parents began to notice her struggling to breathe and move her arms at 2 weeks old.

“When we first took her home, we were in newborn bliss. Just absolutely in love with her. She was a great baby,” Van Doormaal said. “But we started to realize her movement was declining. She had trouble breathing and eating. When she was five weeks old, she was diagnosed with spinal muscular atrophy.”

Because SMA results in severe respiratory issues, Lucy uses a BiPAP (Bilevel Positive Airway Pressure) machine, a non-invasive ventilator, to help her breathe.

She also has a gastrostomy tube that places the food directly into her stomach as she has lost the ability to feed on her own through her mouth.

For months her family has been frantically raising money to fund a one-time gene therapy treatment that alters the patient’s biology and reverses some of the effects the disorder has on their system.  Available in the United States, the therapy is not currently approved in Canada.

Earlier this year Novartis, the pharmaceutical company that developed the treatment, launched a Managed Access Program to provide 100 eligible patients with SMA under the age of 2 in countries where Zolgensma is not approved. Through this program, Lucy was randomly chosen to receive the therapy. 

“We were totally shocked, we didn’t expect this outcome but we were just so happy because our single goal was providing the treatment to Lucy,” Laura Van Doormaal, Lucy’s mom, told CNN. “This has been a traumatic experience, having to fight for treatment and put our life out there to fund it, so this is really a relief.”

While every child responds differently to Zolgensma, Lucy may be able to hit important milestones, like sitting, rolling, crawling, and possibly walking.

“Now that we got the treatment we can focus on her recovery and her progress and enjoying her as a baby, but we also now have to face the grief we are feeling from the diagnosis and process what our new life looks like,” Van Doormaal said. “These are all healthy things that needed to happen, so we definitely feel so much more hopeful about our future.”

The family noted that the 2.4 million dollars they raised through their GoFundMe has been donated to other babies with SMA who needed Zolgensma as well as a few charities.  They have reserved some to put towards Lucy’s future medical needs.

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About the author

Lisa Arneill

SAHM of 2 boys and founder of GrowingYourBaby.com and World Traveled Family. When I'm not running around after my boys, I'm looking for our next vacation spot!

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