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A family that raised $2 million for their baby’s life-saving medical treatment has received it for free

When Lucy Van Doormaal was born on April 1, 2020, at a Vancouver hospital, she appeared to be a perfectly healthy baby. She weighed 7 pounds and 13 ounces, and she had the most beautiful bright blue eyes.

Her parents, Scott and Laura, were absolutely in love with her, saying that she was a “great baby.” However, two weeks later, they noticed something odd about Lucy.

The newborn was struggling to breathe, eat, and move her arms. When she could no longer bring her thumb to her mouth, the couple knew something wasn’t right.

When she turned five weeks old, doctors found that Lucy had spinal muscular atrophy, a condition caused by a mutation in the survival motor neuron gene 1 (SMN1). This disease takes away a person’s physical strength and ability to walk, eat, or breathe.

Lucy has type 1 SMA, which is the most aggressive and severe form of the disease. The baby couldn’t crawl, swallow, or breathe, and her only chance for survival was the drug Zolgensma, which is administered as a one-time infusion into a vein.

However, this life-saving drug to treat spinal muscular atrophy cost a whopping $2.125 million. The Doormaal’s were compelled to ask help from the internet, and the community delivered. They set up a GoFundMe, and the campaign was able to raise nearly $2 million.

But as luck would have it, Lucy was randomly selected by Novartis Gene Therapies to receive Zolgensma for free through its Managed Access Program (MAP). It was launched in 2020 to provide the drug to 100 eligible SMA patients under the age of 2 in countries where it’s not yet 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 company spokesperson told CNN.

The costly spinal muscular atrophy treatment is available in the US and other countries, but it’s not yet approved in Canada. Nevertheless, the British Columbia Children’s Hospital was able to give Lucy the treatment.

“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 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.”

Since receiving the treatment, Lucy began showing significant improvements. She’s now able to hold her head up, and she can sit with some support. Scott and Laura hope that she’ll also be able to crawl one day.

“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,” Laura said.

SMA also affects respiratory functions, so Lucy sleeps with a non-invasive ventilator to aid her breathing. Her parents also use an oximeter to check her pulse and blood oxygen levels.

The baby has lost her ability to eat on her own through her mouth, so she also underwent surgery to receive a gastrostomy tube that will bring nutrition directly to her stomach.

Every child will respond differently to Zolgensma, but there is a possibility that Lucy will be able to outgrow the gastrostomy tube. She may even be able to sit, crawl, and roll like other babies do. The drug might also aid her breathing and swallowing, two things that will greatly impact her quality of life.

“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,” Laura said. “These are all healthy things that needed to happen, so we definitely feel so much more hopeful about our future.”

The money raised through the GoFundMe went to other babies suffering from SMA who also needed Zolgensma. Some of it was donated to a few charities, and the rest is going towards Lucy’s future medical expenses.

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