Lucy Van Doormaal was born on April 1st, 2020 at British Columbia Children’s Hospital in Vancouver, CA, joining older brother Sullivan, 3. But just a week later, parents Scott and Laura noticed something wasn’t right. “Lucy was a natural thumb sucker, and within moments of being born she started sucking her thumb. Around 2 weeks old, we noticed that she was having more and more difficulties keeping it in her mouth,” says Scott. “From there it was a rapid decline in muscle tone and she began presenting as a floppy baby,” he adds. Scott and Laura took Lucy to the pediatrician who referred them to the neology department at the ER. A little over a week later, Lucy was given a diagnosis of Spinal Muscular Atrophy Type 1 (SMA1), confirmed with a genetic blood test. This rare neuromuscular disease, if left untreated, will take Lucy’s life before her 2nd birthday. A new lifesaving treatment, Zolgensma®, is available, and Lucy is a candidate. The problem? It costs $3 million CAD, a sum that is out of reach for Lucy’s family. Every day they wait, more damage is done. We spoke to Scott about Lucy (now just 3 months old), her condition–and most importantly, how we can all help.
Make a donation on the family’s Go Fund Me page.
Thank you so much for sharing your story and we’re so sorry for what your family is dealing with. What is daily life like right now?
Lucy has been on Sprinraza for 2 months; it’s a treatment that’s administered into her spine every 4 months for the rest of her life. It has shown to slow down the progression of the disorder but it doesn’t treat the underlying cause like the $2.1M gene therapy treatment; Zolgensma. Lucy’s breathing and feeding muscles are greatly underdeveloped which is what threatens her life. She feeds primarily through a Gtube that she has surgically placed in early June and requires the use of a BiPAP (noninvasive ventilator) accompanied by an oximeter to monitor her vitals throughout the night. Her daily routine also includes a strict physio and water therapy program. [We do ] all this on top of all the normal things an infant needs throughout the day.
What is Zolgensma?
Zolgensma is a gene therapy treatment that replaces the missing SMN1 gene that causes SMA. This treatment is cutting edge and while we don’t know what the long term outlook will be our primary hope is that it can stabilize and strengthen Lucy’s vital breathing and feeding muscles so she one day can outgrow her BiPAP and Gtube dependency.
What is the barrier to treatment?
The only barrier to treatment is the $2.1million USD ticket price. Once we can secure the funds, Lucy would receive the single dose treatment via IV injection within 3-5 days.
What is getting you through these very tough days?
The biggest motivation to get through the tough times is the support of the community far and wide that are rooting for Lucy. Laura and I consider ourselves each other’s best friends first and have been for 15 years. So when we need a shoulder we always have one for each other. We are fighters and we know that every day we’re putting in now, might translate into years for Lucy.
How can people help?
We are asking for support from the community by making a personal donation and sharing our story far and wide. We can’t get there without the generosity of everyone.
HELP LUCY
Make a donation on the family’s Go Fund Me page.
LEARN MORE
FOLLOW LUCY’S JOURNEY
@lifeforlucy_ on Instagram
To read more about Lucy, read the family’s recent profile on CNN.com.
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