Born April 1, 2020, Lucy Van Doormaal was barely a month old when her parents, Elmira native Laura Kendall and Scott Van Doormaal, were given the terrifying news that she was living with a rare genetic disease, spinal muscular atrophy (SMA). Lucy was diagnosed with Type 1 – the most aggressive form of the disease – on May 5. This condition, which affects perhaps one in 8,000 babies, is a motor neuron disease which causes muscle weakness and atrophy. It can inhibit a child’s ability to crawl, walk, sit up and control head movements. Breathing and the ability to swallow are also impaired.
In many cases if left untreated, the life expectancy of a child is less than two years.
Her family is now asking the community for help to get Lucy a groundbreaking gene therapy treatment which has shown to alter the cause of the disease and potentially put a permanent stop to it. The cost of this treatment, which is not currently available in this country, is almost $3 million Canadian.
Her parents knew something was wrong just two weeks after her birth, when Lucy started to present a decrease in muscle tone and infant reflexes during a regular newborn checkup. After undergoing many days of tests, the end results came in and SMA was found to be present in her system. Since then changes have been made to their lifestyle in order for Lucy to live the best way she can. She sleeps with a bilevel positive airway pressure (BiPAP) machine and an oximeter to measure her pulse and blood oxygen levels. She also had to undergo surgery to have a feeding tube inserted into her stomach.
“She’s a pretty happy newborn. Obviously she has challenges, and it’s really heartbreaking as a mom to watch her be in pain or struggle because she does struggle to kick her legs or to move and she get uncomfortable and I’ll have to reposition her,” said Kendall. “But other than that, she giggles, she coos, she smiles, and her big brother is absolutely in love with her.”
Kendall says there are only a few treatments currently available – with even fewer currently permitted in Canada. Lucy is currently on Spinraza, a drug which in clinical trials has showed increased survival rates, motor milestone achievements, and motor function.
Recently, Lucy’s parents were told that she was a strong candidate for the new treatment Zolgensma, and they are now doing everything they can to help their daughter get the care she needs, while also ensuring that no child has to go through this in the future.
Because of the high out of pocket price tag and the fact that OHIP will not cover the cost, Kendall and her husband have created a GoFundMe page, asking others for help to reach their goal to save Lucy’s life. Their campaign goal is to get 600,000 people to donate $5. To date, more than 22,000 people have reached out helping to raise more than $940,000 of their $3-million goal.
Time is of the essence when it comes to getting Lucy this treatment. Kendall says the sooner she gets treated the better chance Lucy will have and the most successful cases have received the drug within one to three months.
“The sooner she gets this treatment, the better. The results for her life will be so much better [and her] quality of life and longevity [will increase]. Most of the children who have had the most success with this drug, got it within one to three months of life. And it could be months or at least six months to a year before it’s approved in Canada and the drug is only available to children under the age of two. So, there is a finite window that we have [to get her treated],” said Kendall.
Because the treatment is so new, there is no definitive outcome for Lucy, but doctors are optimistic.