A Canadian family who has for months tried to raise money for their daughter's one-time gene therapy, have been randomly selected by a drug company to receive treatment for free.
Lucy Van Doormaal, born on April 1, 2020, looked perfectly healthy, weighing 7 pounds and 13 ounces. That was until her parent noticed that she struggles with breathing and in moving her arms.
"She was having trouble eating and breathing."
Speaking to CNN, Laura Van Doormaal said that they started to realize that her movement was declining and having trouble eating and breathing. At five weeks old, Lucy was diagnosed with spinal muscular atrophy (SMA), a genetic disease that causes weakness and muscle wasting. This disease could potentially kill babies before they reach the age of 2.
Lucy has since been sleeping hooked to a ventilator. She has also undergone an operation to receive a gastrostomy tube so she can feed.
The family set up a fundraising campaign through GoFundMe for the treatment, administered as a one-time infusion into a vein. After raising more than $2.4 million, the family received wonderful news from Novartis Gene Therapies. Lucy was randomly selected to receive the gene therapy treatment through its Managed Access Program (MAP), all for free.
Totally shocked but relieved at the same time
"We were totally shocked," Laura told CNN. She said that they didn't expect it, but they were just so happy because their ultimate goal was to provide Lucy with the treatment she needed. She added that while this has been a traumatic experience for the family, receiving the news was "really a relief."
Lucy was diagnosed with type 1 SMA, the most severe form of the disease. Zolgensma is one treatment option for this type of disease, and while Health Canada has not yet approved it, it has shown promising results.
"This program is a worldwide lottery, and although," Lucy's parents wrote on Instagram, "like other parents, we entered Lucy into it, we never expected her to be selected. Like I said, we are in shock!"
Lucy has since shown signs of improvement since receiving the treatment. Laura said that they noticed an immediate difference. Specifically, her head control has improved quickly. For the first time, Lucy was already able to hold her head up. And with some support, their little girl was able to sit, and hopefully, she would be able to crawl one day.
They are also hoping that one day, Lucy would be able to walk. She said that this is really an optimistic dream; they don't want to hold her back.
Now that Lucy got the gene therapy treatment, the family can now focus on her recovery, progress, and enjoying Lucy as a baby.
The family said that although they know Zolgensma is not a cure, they still have so much hope for the little girl. And while she will always have SMA, hopefully, with the treatment, "she will have the best chance to have a healthy life."
The family also announced that they would donate a large portion of the raised funds directly to other SMA1 babies in Canada. Meanwhile, some portions of the fund will be donated to Muscular Dystrophy Canada and the B.C. Children's Foundation. Lastly, the family will some of the funds to support Lucy's future and complex medical needs.
