Toddler already slowed by rare disorder that worsens without therapy
Aleena Sadownyk has a rare enzyme deficiency called MPS VI that causes buildup of cellular waste in their body. They need a synthetic form of the enzyme to be injected each week. Supplied by family
Photograph by: Greg Southam
St. Albert – Inside Aleena Sadownyk’s three-year-old body, cellular waste is building up in her finger joints, around a heart valve and enlarging her liver and spleen.
Without a crucial enzyme in her body called glycosaminoglycan to break down that waste, it will continue to build up, restricting her movements, clouding her eyesight and damaging her organs. Without treatment, her life expectancy will dwindle.
Aleena is already exhausted, passed out on the couch of her St. Albert home as her parents tell her story in the hopes the provincial government will listen and fund her $300,000 – to $1-million annual treatment.
Her cause is being championed by Wildrose MLA and health critic Heather Forsyth who has written the government asking it to help.
“It’s devastating,” said her father Dane Sadownyk, speaking both of his daughter’s diagnosis of the rare Maroteaux-Lamy Syndrome and of waiting for the provincial health department to review the case and decide if it will cover the cost.
“You’re on pins and needles,” Dane said. “You know there’s a treatment there and it’s just a matter of her being able to receive it.”
While there is no cure, a synthetic enzyme called Naglazyme is approved in the United States. Through weekly hours-long infusions, Naglazyme can break down the cellular waste building in up a patient’s body. Patients need to be on the enzyme-replacement therapy for life, but symptoms won’t worsen.
Even though it isn’t yet approved for use in Canada, seven other children with MPS VI are receiving the treatment after their families successfully lobbied their governments in B.C., Saskatchewan, Ontario and Quebec to cover the cost. The provinces only gave coverage after public awareness campaigns, said Andrew McFadyen, whose son Isaac was diagnosed when he was 18 months old.
It took six months to get funding for Isaac’s treatment which stopped the progression of the disorder, made his skin and hair soft again, and shrunk down his swollen organs. But the treatment won’t reverse the damage already done to Isaac’s eyes, give his shoulders full range of motion or allow his hands to make a fist, since his fingers clawed up.
“It was tough,” McFadyen said from Ontario. The Sadownyk family contacted him for help when their request for funding through the Alberta Rare Disease Funding Program was turned down. “The only thing that works is public advocacy campaigns. Once the public understands that the public health system has the ability to look after a very sick child and they’re not, then action gets demanded.”
Isaac is now nine and heading into Grade 4. This type of enzyme deficiency doesn’t cause compounds to build up in the brain. McFadyen wants Aleena to have a chance to grow up too.
“I have all the hope in the world that this will shift things and prompt a decision,” he said.
The province currently has a funding application from the family through the Short-term Exceptional Drug Therapy Program, which provides six months of treatment.
“My heart goes out to the Sadownyk family. I know they want to do everything they can to help their daughter,” Health Minister Fred Horne said in a statement. “As a politician, I don’t get directly involved in assessing which drugs would be funded through that process — and appropriately leave that assessment to medical experts. Department officials will continue to support the application process, a clinical review is underway now and I understand we expect a response soon.”
It can’t come soon enough for the Sadownyks. Aleena was in gymnastics this past spring and couldn’t grip the bars or kneel on all fours because of stiffness in her hands and knees. Nor can she properly grasp a crayon.
“It’s traumatizing for her,” said her mother Laura Sadownyk. Aleena doesn’t fully understand her condition, but she certainly doesn’t enjoy all the doctor appointments.
“We don’t know how fast it will progress in her,” Laura said. “We need the minister to accept the funding request.”