An Ontario family is hoping an online fundraiser will help them afford a life-saving new drug for their twin toddlers.
Twenty-nine-month-old Stephanie and Tiffany struggle to sit up for longer than 15 seconds.
Even reaching for a toy is becoming impossible. They can’t get up from lying down without help.
The twins were diagnosed with Type 2 SMA (Spinal Muscular Atrophy) on June 23, 2020, when they were 21 months old.
SMA is a genetic condition that affects mobility, digestion and eventually the ability to breathe; it often claims the lives of children under two years old.
They’ve been receiving treatment with the drug Spinraza, which can slow the disease. But it doesn’t stop it, and it’s a painful treatment to receive.
Sov told Global News the twins must fast for eight hours before the Spinraza treatment and then they cry for days from the pain they experience after the spinal injection.
The family says it doesn’t have to be this way because a new drug, Zolgensma — approved by Health Canada this past December — promises to halt SMA with just one dose.
But it comes with a $2.8-million price tag, and time is running out.
“And now my kids (are) 10.5 kg. It’s really close and that’s why we really want to get Zolgensma for our kids,” said Noryoulay Chhuon, the toddlers’ father.
“Plus, they are over two years (old) and the only criteria for them to get Zolgensma is under the weight of 21 kg,” added Sov.
Desperate and hopeful, the Chhuon family has started a GoFundMe seeking $5.6 million.
The president and CEO of the Canadian Organization for Rare Disorders said a “Rare Disease Drug Strategy” — a $1 billion investment — was approved by the federal government in 2019 but it was never implemented.
“This is actually a perfect example of why we need this drug strategy because it’s not just about funding this drug, it’s about everything in terms of how do we get kids diagnosed at birth or as soon as possible. How do we make sure they get to the right specialist so they get access to treatment that’s available,” said Durhane Wong-Rieger.
Wong-Rieger added that if the twins were born this year, they would have been screened at birth, diagnosed and treated for SMA right away. That’s because SMA is now included in Ontario’s newborn screening.
In the meantime, the family awaits their twins’ doctor’s application appealing to the province to fund Zolgensma.
In a statement to Global News, the government said, “The Ontario Ministry of Health has reached out to physicians who are treating patients with spinal muscular atrophy and is working with them to consider — on a case-by-case basis — which patients might be eligible under the Ontario Drug Benefit Program.”
The family is not giving up hope.
“It’s really hard and it’s really painful for us to see them fall down and lose their muscle … we hope that our twins can get Zolgensma on time,” said Chhuon.
“We hope a miracle happens (for) our twins,” said Sov.