Saskatoon family awaits answer on treatment for crippling disease

Three children all suffer from genetic enzyme deficiency that could lead to early death
CBC News Posted: Sep 15, 2015 5:30 AM CT Last Updated: Sep 15, 2015 6:43 AM CT

A family in Saskatoon is waiting and hoping for the solution to a triple heartbreak. Three of the five children suffer from a crippling genetic disease that could kill them.

Muhammad Abdullah, 12, Khadija Amir, 10 and Sara Amir, 8 all have a rare enzyme deficiency called Morquio A Syndrome (also called MPS IV type A).

“Until the age of three to four nobody can judge that there’s anything wrong with them actually,” their father, Muhammad Amir Akhter said. “After that the symptoms appear, and almost every part of the body is affected.”

Without the missing enzyme, cellular waste builds up in the bones, tissues, organs and muscles.

The condition is stunting the children’s growth, twisting their joints, affecting their eyesight and hearing, and making it tough for them to breathe. Two of them use wheelchairs at school.

It’s so rare, it only appears in an estimated one out of every 200,000 to 300,000 children.

Hope placed in costly synthetic enzyme

There is no cure. But a synthetic enzyme called Vimizim could slow or even halt the progression of their disease, and help them live longer.

An advocacy group called the Isaac Foundation said Health Canada approved Vimizim more than a year ago.

Now Akhter and his wife Shazia Amir are waiting to find out if the province will pay the cost, which could be in the hundreds of thousands of dollars each year.

“It’s really hard to wait for the decision,” Akhter said. “You know we are anxiously looking forward to see every day morning, we are looking for any positive response from the government side to get that too, to get started that replacement therapy.”

Health ministry considering compassionate coverage

He said they applied seven months ago. However, Saskatchewan’s Ministry of Health said it only got complete information from the children’s doctor late last month.

It also said the national Common Drug Review made a “Do Not List” recommendation for Vimizim for clinical reasons.

However, the ministry is considering compassionate coverage on a case-by-case basis.

In the case of Akhter’s children, the ministry has sent their requests to an out-of-province specialist for review and advice.

If they are turned down, Akhter said he will consider moving the family to another province that is willing to pay for their treatment. The Isaac Foundation said Ontario and Quebec have reimbursed patients for Vimizim.

Petition – Quebec Funding for Vimizim

Hi Everyone,

Sorry for the delay in posting, I’ve been on the road non-stop meeting with patients and families, and working hard to ensure that reimbursement for treatments for rare diseases is forthcoming for everyone that needs it through this country.

I wanted to share a petition, with hopes you can drop in to sign. It only takes a moment, and the voice you add in that moment can make an incredible difference.

This is a french petition, asking the government of Quebec to fund access to Vimizim for patients with MPS IV. Below is a rough translation for English speaking visitors:

Why it matters

VIMIZIM is a drug that already allows multiple people with Morquio syndrome to live a full life with dignity. INESS has refused reimbursement of the drug, which is too expensive for people to access without help. In Quebec, there are many families in need of this treatment in order to participate fully in society.  Furthermore, administered at a young age , this treatment can drastically change the life of a child, or even save his life.

Please visit and sign the petition here!

Thanks in advance,

A.

CONTACT US AND SHARE YOUR STORY!

We want to hear from you! Send us your story so we can share it with the world. Every person and family battling Morquio A Syndrome has a unique story to tell - one of bravery, resilience, and perseverance. We'll share all stories online here and on our social media feeds!