Lucy Van Doormaal, now 7 months old, was born with spinal muscular atrophy (SMA), a genetic disease that causes infants’ muscles to waste away, potentially killing them before age 2.
After her family raised nearly $2 million to pay for a potentially life-saving treatment, administered as a one-time infusion into a vein, Lucy was randomly selected by drug company Novartis Gene Therapies to receive the treatment for free through its Managed Access Program (MAP).
“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.”
SMA is an inherited disorder stemming from a defective gene that leads to the death of nerve cells responsible for moving the muscles that allow people to walk, talk, breathe and swallow, according to the National Institute of Neurological Disorders and Stroke.
Lucy has type 1 SMA, the most aggressive and severe form of the disease which leaves her nearly unable to crawl, swallow or even breathe. Lucy’s only chance of surviving past her second birthday was Zolgensma, one of the only approved treatments for SMA.
Another chance of survival
Since receiving the treatment, Van Doormaal said Lucy has already shown significant improvement.
“We noticed an immediate difference. The biggest changes are her head control, really quickly after the treatment she was able to hold her head up which is something she’s never done before. She can sit with some support and hopefully one day she’ll crawl,” Van Doormaal said.
“Maybe one day she’ll even walk. That’s really an optimistic dream, I know, but we like to have high expectations and we don’t want to hold her back.”
The gene therapy treatment, which comes with the hefty price tag of $2.125 million, alters the patient’s biology — but it’s still not a guaranteed cure.
Zolgensma replaces a working copy of the defective gene into those nerve cells before they die and symptoms develop.
The treatment is available in the US and other countries, but is not yet approved in Canada. However, British Columbia Children’s Hospital was able to provide Lucy with treatment, Van Doormaal said.
In 2020, Novartis launched a Managed Access Program to provide 100 eligible patients with SMA under the age of 2 in countries where Zolgensma is not approved.
While we aren’t providing specific numbers at this time, we can confirm that already the program has enabled children across Asia, Australia, Europe and North America (including Canada) to receive treatment who may not have otherwise had access to the therapy,” a Novartis Gene Therapies company spokesperson told CNN.
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