VANCOUVER -- The family of a B.C. baby born with a rare, and likely fatal, disorder known as spinal muscular atrophy has been selected to receive a ground-breaking, and potentially life-saving gene therapy worth millions of dollars.
The treatment is not covered by Canadian health care, and without it four-month old Lucy Van Doormaal will be unlikely to see her second birthday.
Her family started a GoFundMe page, hoping to cover a single dose of Zolgensma, thought to be the most expensive drug in the world at nearly $3 million.
In just two months, they managed to raise $2.47 million and last week shared an update announcing they would be able to pay for the treatment.
And now, another update, the company behind Zolgensma has selected Lucy to receive the treatment for free.
"We started off fundraising for this and the community responded so amazingly to Lucy's story and to our cries for help,” said Laura Van Doormal, Lucy’s mother. “And I just want to say that we are so extremely grateful to that community and that they have really uplifted us emotionally through the fundraiser and we are just really, really grateful."
Now that they won’t have to pay for the treatment, the family is still sorting out what they will do with the millions in donations they received.
Although the gene-therapy could change the course of Lucy’s life, it will not cure her of SMA and the family will have ongoing expenses related to her condition.
They will use some of the money to cover that and say they would like to use the rest to help other families who have babies living with SMA.
That assistance could include funding to test and screen for the disorder, as well as contributions to others trying to raise money to pay for Zolgensma.
There are still some things to be worked out before Lucy actually receives the treatment.
Medical staff at BC Children’s Hospital have never attempted it before so there will be preparation for them.
Lucy will also need to undergo another series of tests to confirm she is a good candidate for the treatment.
She also needs to undergo a round of steroids to prepare her immune system.
In the months after she receives treatment, Lucy will be even more immuno-compromised than usual and her family is still working out how they will protect her while she is in that vulnerable state.
Laura van Doormall stressed that the treatment will not grant her daughter a normal life, but could extend it beyond the two-year expectancy of babies with SMA, and the family is grateful to be able to think optimistically about the progress Lucy could make in the coming years.
"We've definitely been through a lot in the last four months of her life,” said her mom.
“I think we are still in a process of grieving what we had envisioned for her life and what we had envisioned for our life as a family but I would definitely say that we are hopeful that we will be able to make the most out of her life and give her the best opportunity."