Seven-month-old Lucy Van Doormaal hasn’t had an easy life so far, but she seems to have a bit of luck on her side.
When Lucy was diagnosed with the rare and fatal genetic disorder spinal muscular atrophy (SMA) at five weeks old, her parents turned to the internet to help them afford a life-saving infusion with a $2 million price tag. Lucy’s story — and her beautiful blue eyes — went viral, and the family raised more than $2.5 million on the crowd-sourcing platform GoFundMe. Then, Lucy was randomly selected by the drug maker to get treatment for free.
“I think we are still a bit in shock,” Lucy’s parents, Scott and Laura Van Doormaal wrote in an August 12 update shared on GoFundMe and Instagram.
The drug maker, Novartis Gene Therapies, launched a Managed Access Program this year. The program is meant to help babies get treatment in counties where the drug, Zolgensma, isn’t yet approved for use. That includes Canada, where Lucy lives.
On Sept. 9, Lucy was given the infusion at British Columbia Children’s Hospital. Right away, her parents noticed that she was making improvements.
“Lucy lifted her head for the first time ( a tiny amount from an inclined position) during tummy time yesterday,” her parents wrote in a Sept 24 Instagram post. “This felt huge (and the smile was just the cherry on top).”
While Zolgensma is a promising treatment, it won’t completely cure Lucy of SMA. It’s not clear whether she’ll be able to walk to feed independently one day. But for now, her parents are thrilled to know that her life expectancy has been vastly expanded and her future is full of possibilities.
“We like to have high expectations and we don’t want to hold her back,” her mother told CNN.
Although the Van Doormaals had a great outcome — getting the treatment that they needed for Lucy — the experience was a painful one, Laura told CNN.
“This has been a traumatic experience, having to fight for treatment and put our life out there to fund it,” she said.
On October 10, Laura shared a very honest Instagram post, with a picture of Lucy as a newborn.
“When she was diagnosed, my mental health crumbled,” she wrote. “This photo was taken 2 days after we got the news. I felt guilt, fear, jealousy and grief. I broke down and entered an extremely dark and painful place. As an extroverted person I am not sure my depression was always obvious from the outside. But those who really know me, could tell I was not doing well. I was not myself, I felt broken and was unable to picture a day when I would feel differently.”
She continued, “I felt guilty about not being able to support others who were also having a hard time, about accepting or needing help. Guilt about not being a better mother, a better partner and for letting down Lucy and my family.”
Laura shared that she started seeing a grief counsellor and a postpartum psychiatrist to help her cope.
“I share all of this because I don’t want anyone to think we have made this journey alone. No one is meant to go through lifes challenges alone,” she wrote.
The funds that were raised for Lucy’s care will be donated to 7 other Canadian babies who have the same condition. The Van Doormaals will also make a donation to British Columbia Children’s Hospital and Muscular Dystrophy Canada, while keeping some of the money for Lucy’s future care.
Now that the scramble for treatment is behind them, the Van Doormaals are focused on healing as a family and meeting Lucy’s needs.
“She is showing us everyday how tough she can be,” they wrote on GoFundMe. “We know it will be a long road from here but we are so encouraged by her progress.”
