On April 1, 7:35 p.m., the Van Doormaal family in Vancouver, Canada, welcomed their newest bundle of joy into the world. Lucy arrived at 7 pounds, 13 ounces, and her parents “were in newborn bliss.”
Two weeks later, Lucy started exhibiting some concerning behaviors. She was having trouble breathing, moving her arm, and sucking her thumb — something she had been able to do shortly after being born.
Just a few weeks into life, Lucy got a heartbreaking diagnosis: type 1 spinal muscular atrophy, an inherited wasting disease caused by a defective gene that could claim her life before she was even 2 years old.
“When we first took her home, we were in newborn bliss,” Lucy’s mom Laura told CNN. “Just absolutely in love with her. She was a great baby.”
“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.”
“When we received the diagnosis, we were devastated. We’d never heard of it before. Reading the words ‘most infants don’t make it to their second birthday’ just broke our hearts, especially as parents of a newborn who seemed so healthy.”
There was a potential treatment — but the cost was prohibitive. Zolgensma, a U.S. FDA-approved treatment, “replaces a working copy of the gene into those nerve cells before they die.” It’s not guaranteed to work, of course, but over 500 children have been treated with it already.
The price tag? A whopping $2.125 million for a one-time treatment. And until then, Lucy had to be on Spinraza, a drug that has to be injected every four months for a patient’s entire life, and has its own hefty price tag — but insurance was able to cover it.
“Gene therapies such as Zolgensma have the potential to reduce the financial burden on patients, families and the overall healthcare system by replacing repeat, lifetime therapies with a single treatment,” said a spokesperson for the company that markets the drug.
“As a single, one-time intravenous infusion, Zolgensma’s price in the countries where it has been approved reflects the long-term value it brings. Zolgensma is priced in the U.S. at approximately 50% less than the current 10-year cost of chronic SMA therapy.”
While the cost was staggering, the family started to fundraise immediately. The problem was that they were fighting the clock. The sooner they could get their daughter treated, the better, as any damage done before the treatment would be irreversible.
“It’s critical she gets the (treatment) as soon as possible,” Laura explained. “It won’t be able to reverse any damage that’s being done to her right now, but it will give her the gene she needs to live.”
The GoFundMe page the family set up raised nearly $2.5 million dollars at final count, but then a miracle occurred. Novartis Gene Therapies randomly selected Lucy as a recipient of a covered treatment of Zolgensma — the family wouldn’t have to shell out for the bill themselves.
“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 in a follow-up. “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.”
Lucy was treated, and though there have been some hiccups, there have been positive advancements as well.
“Since treatment, Lucy has had some ups and downs,” an update on the GoFundMe page stated. “The first week her platelets and liver enzymes were at a dangerous level so we doubled her daily dose of prednisolone steroid. We also started a prescription anti nausea medicine to help with some of the side effects from the steroid. Thankfully this helped greatly and her blood tests have since stabilized. Hopefully we will be able to wean her off the steroid in the upcoming month.”
“We noticed an immediate difference,” Laura told CNN. “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.”
Since the cost has been covered by NGT, the family offered refunds to donors to the GoFundMe or the opportunity to donate to other patients’ causes. They are thrilled that their little Lucy has the best shot at life now.
“Maybe one day she’ll even walk,” the hopeful mother said. “That’s really an optimistic dream, I know, but we like to have high expectations and we don’t want to hold her back.”
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