St. Albert toddler gets first treatment of life-saving drug
Aleena Sadownyk still in high spirits
By: Amy Crofts
| Posted: Saturday, Aug 24, 2013 06:00 am
It was a big week for St. Albert toddler Aleena Sadownyk.
After two hours of surgery and eight hours of enzyme replacement therapy she was still in good spirits, said Aleena’s mom Laura from their family home on Friday morning.
The three-and-a-half-year-old was diagnosed with the extremely rare Maroteaux-Lamy Syndrome, also called MPS VI, in April.
With the help of the advocacy group the Isaac Foundation, Aleena’s parents Dane and Laura lobbied the provincial government for more than a month to fund her life-sustaining treatment, which can cost from $300,000 to $1 million per year.
Aleena lacks an enzyme which makes her body unable to break down cellular waste. It then builds up in the muscles, organs and bones causing stiff joints, corneal clouding and heart and airway disease, as well as significantly reducing her energy.
The provincial government approved treatment funding through the Short Term Exceptional Drug Therapy Program on Aug. 12. Alberta Health under the Alberta Rare Diseases Funding Program previously denied the request.
On Tuesday, Aleena underwent a surgery to have a port placed in her abdomen that allows for medication to be administered. She began weekly Naglazyme infusions on Thursday at the Stollery Children’s Hospital.
“We’re looking forward to her having more energy with the treatments and I’ve been told after one or two treatments she should pick up,” said Laura, adding that Aleena’s hair and skin are expected to soften as well.
“Also, the progression of the disease will come to a halt and that’s the most important thing of course.”
Aleena must undergo weekly transfusions for the rest of her life, or until a treatment is found. Treatments last seven to eight hours, but may gradually decrease to four to six hours depending on how fast her body can take the enzyme in, explained Laura.
She added her family is looking forward to spending time at home – not in the hospital – and eventually getting Aleena back into swimming and gymnastics, her favourite activities.
“We’re very excited for her and we’re looking forward to her bright future ahead,” said Laura.
“It’s a happy ending to this issue but … our next big challenge is to work with the Isaac Foundation on getting an orphan drug policy in place in Canada so this won’t happen to another family.”
Due to the small size of patient populations with rare diseases – typically less than 5 in 10,000 persons – orphan drugs are expensive and difficult to research and market.
Aleena is one of nine children suffering from MPS in Canada and roughly 1,100 worldwide.