Baby with Rare Genetic Disorder in Need of $2.2 Million Gene Therapy Treatment to Save Her Life

Lucy Van Doormaal may not live to see her second birthday if her parents can't afford the treatment for her Spinal Muscular Atrophy

Lucy Van Doormaal
Lucy Van Doormaal. Photo: GoFundMe

The family of a 3-month-old baby is attempting to raise over $2 million for a gene therapy treatment in hopes that it will save their daughter's life and extend her chances for survival beyond her second birthday.

Lucy Van Doormaal was born on April 1 in Vancouver, but before her parents, Scott and Laura Van Doormaal, could "finalize her name," they noticed that "something wasn't quite right" with their daughter, according to their GoFundMe page.

A month later, Lucy was diagnosed with Spinal Muscular Atrophy (SMA), a rare genetic disorder that attacks motor neurons and weakens the voluntary muscles used for crawling, walking, head and neck control and swallowing.

Because Lucy's particular case of SMA is Type I, which is the most aggressive type, her parents explained on the fundraiser that their daughter likely wouldn't make it to her second birthday.

With little to no other options, the Van Doormaals are now hoping that Lucy's GoFundMe page will help them raise enough money to afford a "groundbreaking gene therapy treatment" called Zolgensma, which could ultimately save their daughter's life.

"The experience of setting up this page is an emotional one. This is admitting to ourselves that we can't do this on our own, and I guess we'll have to come to terms with that at some point down the road," Scott wrote. "Lucy needs this treatment now. Research has shown that the longer you wait the more irreversible damage this neuromuscular disorder will have."

Lucy Van Doormaal
Lucy Van Doormaal. GoFundMe

Lucy first presented symptoms of SMA during a regular newborn checkup, according to the GoFundMe. At the time, Scott said she had a "decrease in both muscle tone and infant reflexes," and doctors were unsure of the cause.

Five days of "constant testing" resulted in Lucy's SMA diagnosis — something the new parents of two told CNN left them stunned and heartbroken.

"When we received the diagnosis, we were devastated," Laura told the outlet. "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."

In the weeks following the news, Scott said he, Laura, and their 3-year-old son Sullivan had to "make some imminent changes to our lifestyles to ensure Lucy remains out of harm's way."

"This is all so new to us and we don't yet know where this journey will take us," he wrote on the GoFundMe, noting how Lucy sleeps hooked up to an airway pressure machine and oximeter that monitors her pulse and blood oxygen levels and also has a feeding tube.

Initially, the Van Doormaals were told Lucy's treatment would consist of a drug that combats SMA called Spinraza, which was approved by Health Canada in 2017, according to the GoFundMe.

The infant would be required to get continuous injections of Spinraza into the fluid of her spine, and Scott said the hope would be for the drug to increase both her life expectancy and her quality of life.

But at the end of June, the parents were introduced to a new gene therapy treatment called Zolgensma.

Because Zolgensma was not yet approved in Canada or covered by Canadian insurance companies, Scott said their only access to it would be to import it from the U.S. — for a hefty, out-of-pocket price tag of $2.2 million ($3 million CAD).

"Getting approval for the drug is only half the battle," the parents wrote on the description of a YouTube video about Lucy's journey. "It's overwhelming to know there’s something that could change Lucy’s life but is currently out of reach. This is why we need your support and are asking for your help."

Created on May 10, the GoFundMe officially hit the $1 million mark on Saturday with Scott thanking the 38,800 donors — including members of the Hollywood community, such as Ryan Reynolds, Olivia Wilde and Joshua Jackson — for their support.

"It’s unbelievable the amount of support we have been getting from all over the globe. We want to take a moment and make sure that we truly pass along our gratitude to each and every donor," Scott wrote. "Together we are making this happen for Lucy."

"It is clear that our story has touched so many of you," he added. "It is clear that we are not alone on the journey. And for that we thank you — we needed that affirmation. This is hard and we are not going to give up. That is simply not an option."

As of Monday, the GoFundMe has raised $1.6 million, but the Van Doormaals still need another $1.3 million to reach their goal — something they hope they can achieve before it's too late.

RELATED VIDEO: This 12-Year-Old Dances to Raise Money for His Brother's Epilepsy Treatment

"The impact this has had on our lives has been so drastic," Laura told CNN. "Welcoming a child into the world changes your life, but this has turned it upside down. We have no idea what the future holds for Lucy, or if we will be able to raise enough money to just keep her alive."

While they continue to spread the word about Lucy's cause, they're also using their platform to help other babies with SMA by launching a petition to get Zolgensma approved in Canada. So far, it has garnered over 41,000 signatures.

"The decision is now in the hands of us, as Canadians and the elected leaders of our Country to not stand on the sidelines another day and let babies go without this life-altering treatment," Scott wrote on the page. "Lucy needs you, the entire SMA community needs you to stand up and voice your support for the approval. The time is NOW."

Those interested in donating to Lucy's GoFundMe can do so here.

Related Articles