Toddler's family seeks relief from rare disease

The MLA for St. Albert said a very young member of his constituency is front and centre in the government’s, and public’s, eye.Stephen Khan said he spent the weekend talking to people involved in the situation facing three-year-old Aleena Sadownyk. The three-year-old St. Albert resident has been diagnosed with the extremely rare Maroteaux-Lamy Syndrome, also called MPS VI.Sufferers of MPS VI lack an enzyme in their blood that breaks down cellular waste in the body called glycosaminoglycan (GAG). These GAGs build up in the bones, tissues, organs, and muscles of affected individuals and lead to many devastating symptoms including heart and airway disease, corneal clouding, stiffening of the joints, shortened stature, and premature death. To date, there are nine children suffering from the disease in Canada and roughly 1,100 worldwide.“This adorable little girl, there is a drug that helps treat the deficiency that she has,” said Khan from his home Monday.“The catch is, the drug has not been approved for use in Canada.”MPS VI is rare, and the treatment required to keep Aleena healthy is also rare and quite expensive, ranging from $300,000 to $1 million per year, but urgently needed to keep her situation from worsening. Naglazyme is the only treatment known for the condition, and Alberta Health Services has already denied funding under the Alberta Rare Diseases Funding Program, but Khan said other avenues are opening up.“The family is under unimaginable strain and stress,” said Khan. He said his St. Albert office was notified July 4 about Aleena and her story was quickly forwarded to the minister of Health. From there, the minister’s office is to forward it to AHS.He said, although Naglazyme is not approved for use in Canada, some provinces have made exceptions. Khan said he’s been talking with the ministry and also with representatives of the Sadownyk family to get the ball rolling more quickly. Khan said he wanted to meet directly with the Sadownyk family, but was unable to. However, the minister’s office stepped up and has been handling the situation.“We’re hoping to get access as soon as possible because every day is an eternity for the family,” said Khan.

Frustration

Andrew McFadyen, whose son Isaac lives with MPS VI, lobbied the Ontario government to cover Naglazyme and has been instrumental in helping the Sadownyk family.“I’ve just become more and more frustrated with what’s been transpiring,” said McFayden Tuesday.“We’re essentially waiting on the province to make a decision and that’s why it’s important we do get an expedited decision on this matter. Every day that goes by is another day that she’s not receiving the therapy that she needs.“We’re reaffirming our call for an immediate decision on this so that the family can know what the fate of their daughter is. The future of your child sits on the desk of a few bureaucrats that haven’t had the opportunity to work through a process they haven’t put in place in an expedited fashion and we’re just calling on them to do the right thing.”McFayden knows this disease well as it afflicted his son. He knows what Aleena is facing.“Already at three-and-a-half years old she’s suffering from a lot of the irreversible symptoms of this disease, her joints are starting to stiffen up, her hands are starting to claw up, she can’t raise her hands above her head,” said McFayden.“Her energy level is severely, severely deteriorating, her internal organs are enlarged, there’s already evidence of buildup on the bones. And those are only the things that are prevalent. We just don’t know what sort of symptoms are just waiting on the doorstep to appear. None of these symptoms can be reversed, but as soon as treatment starts we hope that the majority of these symptoms will stop appearing.“Her lifespan will be severely shortened without treatment.”Khan said the issue is bringing people together, even in the legislature, as all parties seem to want to see an approval made for the treatment to help Aleena. “I think everybody in Alberta can be supportive of the Sadownyk family and their cause.”Khan said everyone is waiting for the provincial committee that oversees the Short Term Exceptional Drug Therapy program to meet and make a decision. He said the federal government is also working on this issue through the Special Access Program, which already approved Naglazyme for MPS VI sufferers in Ontario, B.C., Saskatchewan, and Quebec. Naglazyme is already approved in other countries around the world, including the United States and members of the European Union.Khan said no one knows what the committee is going to do yet, but he is optimistic.“From the time our office first contacted the minister’s office, we’ve been getting regular updates,” said Khan.“The last update we got was very positive, very hopeful. The quicker we can get a decision, the happier everyone is going to be.”