Morquio

07 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Newspaper, Saskatoon Siblings Permalink

Drug funding refusal for three children afflicted with rare disease to be reviewed

Sticky Post By On 7 October, 2015

Approval ‘the hope of our life’

 BY JONATHAN CHARLTON, THE STARPHOENIX OCTOBER 6, 2015
11416994Muhammad Amir Akhter helps his children, from left, Khadija, Sara and Muhammad Abdullah put their shoes on before heading to school at River Heights. The provincial health ministry is reconsidering drug funding for the children, who have an enzyme disorder.

Photograph by: Gord Waldner, The Starphoenix , The Starphoenix

The father of three children afflicted with a rare enzyme disease remains hopeful the province will pay for a costly drug therapy, despite receiving word last week that the Health Ministry had rejected his application.

Health Minister Dustin Duncan met Monday in Regina with Muhammed Akhter and his children and agreed to have the ministry seek a third opinion on whether Vimizim will be effective in treating their cases of a debilitating enzyme deficiency, Morquio syndrome or mucopolysaccaridosis IVA (MPS).

“While the answer last week was no, that doesn’t mean it’s no forever,” Duncan said Monday.

“Experts so far say there really isn’t efficacy when it comes to halting progression of the disease as children get older, but I want to have a second look at it.”

Akhter called the possibility of a positive result “the hope of our life.”

Vimizim, which can halt progression of the disease, can cost up to $460,000 per year.

Duncan said the children were denied approval based on the “Do not list” recommendation by the federal Common Drug Review (CDR) and on the opinion of an out-of-province specialist, who questions the effectiveness of the drug in children older than five.

The CDR considers how a new drug compares with alternatives, which patients will benefit and whether it will deliver value for money.

The Akhter children, who are eight, 10 and 12 years old, all began showing symptoms around age four or five, but doctors were unable to diagnose the problem until 2012, when all three were diagnosed in Winnipeg, their father said.

An advocate says the ministry’s decision was based on the drug cost rather than evidence about its effectiveness.

“We are really pushing the minister to make the decision based on the clinical data that shows the earlier treatment begins, the better, but there is no age limitations on which treatment can be beneficial,” said Jaime Myrah, executive director of the Canadian MPS society.

“All of the clinical trials took place in patients above the age of five, so there is actually no clinical data that suggests the treatment is more effective in children under the age of five. We do believe this is really a decision that is being made by financial considerations,” Myrah said.

The disease is estimated to appear in only one out of every 200,000 to 300,000 births.

The Akhter children’s bones and joints are weak, as are their hearts and lungs, and they have all suffered vision and hearing loss. They have also stopped growing.

Akhter wasn’t expecting the refusal to fund, given that the treatment is covered for one other child in Saskatchewan.

“My wife and I, we were very sad,” he said. “We are trying our best to get that medicine, to see them happy, healthy.”

Doctors have told Akhter the children can expect a lifespan of 20 to 30 years – and they’ll become more dependent as the disease continues to take its toll.

Myrah said patients have also been approved in Ontario, Quebec and soon Alberta. Saskatchewan and other provinces have approved treatments similar to Vimizim, she said.

With Betty Ann Adam files

jcharlton@thestarphoenix.com

© Copyright (c) The StarPhoenix
06 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Radio, Saskatoon Siblings Permalink

Health Ministry denies funding for Sask. siblings with rare genetic disease

Sticky Post By On 6 October, 2015

Lasia Kretzel

 October 5, 2015 – 5:20pm

Muhammad Akhter spent 12 hours trying to figure out how to tell his wife some terrible news.

The couple’s three children have been denied treatment coverage from the province for their rare genetic disease, but Health Minister Dustin Duncan said he will seek a second opinion.

Muhammad Abdullah, 12, Khadija Amir, 10 and Sara Amir, 8 have an enzyme-related disease called Morquio A Syndrome (also called MPS IV type A). Their bodies lack an enzyme in their blood that breaks down cellular waste in the body. Without treatment it can lead to multiple diseases and premature death. The children have already experienced growth problems and stiff joints. Two of the them already use wheelchairs.

There is no cure, but treatment with a synthetic enzyme called Vimizim could slow down the disease and potentially extend the life of the children. The treatment would cost hundreds of thousands of dollars a year for each child.

“I was not expecting to be denied from the (common drug review’s) side because this is the last resort. This is the last hope,” Akhter said. “It’s a feeling, it’s a pain from the inside. It’s pretty hard.”

The Ministry of Health sought consultation from experts outside the province and provided information from the family and their physicians. Health Minister Dustin Duncan said they were told the drug wouldn’t be as effective on the children because they were older than five years.

“The longer it takes for this drug to be administered, the disease progresses to a point where it just becomes a question of whether or not there is efficacy to administering this drug,” Duncan said. “You would like to be able to say yes to everybody, but you want to ensure that for the sustainability of the system that you’re using the health care dollars as wisely as possible.”

Morquio A Syndrome only affects an estimated 100 people in Canada right now, according to the group Morquio in Canada.

IS IS THE LAST HOPE.

The Isaac Foundation said another Saskatchewan child has already received funding for the treatment, and Duncan said he only knew of one child being approved for therapy in recent memory.

The family, with the support of the foundation, met with the minister Monday to plead him to reconsider.

Duncan said because another child was approved for the drug before and because he feels there is debate in the medical community about the effectiveness of the drug at certain ages, he would like to review the siblings’ case.

“I’m going to ask the ministry to consult further with some other out-of-province experts to give me a second opinion on this,” Duncan said. “There’s not a lot of options for these patients so we want to make sure we give a full look before we close the door.”

Akhter said the family is now waiting anxiously, adding they aren’t sure what they will do if the second answer is still no.

“It’s like night and night; no shining,” he said.

  Email  lkretzel@ckom.com
  Twitter  @lkretzel
06 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Newspaper, Saskatoon Siblings Permalink

SASKATOON FAMILY DENIED FUNDING FOR TREATMENT

Sticky Post By On 6 October, 2015

It’s a parent’s worst nightmare; watching your child lose a battle to a devastating disease. Now imagine having to suffer through it multiple times.Muhammad, Sara and Kadija Akhter suffer from a rare but crippling genetic disease called Morquio Syndrome that’s changed their childhood.“This syndrome is progressive. So every day they are losing something … they’re losing more and more. So it’s getting tougher for the family as well as the kids,” said father Amir Akhter. Story continues below

Rare genetic disease diagnosed in 3 kids from same Saskatoon family

The siblings all have the disease which occurs when people are missing a genetic enzyme. It’s twisting their joints, seriously impacting their vision and hearing and they can hardly walk or run.

 There is no cure, but until recently, there was still hope. The family was anxiously hoping the province could pay for a treatment called Vimizim. The therapy could help them live longer and could even halt the progression of their disease.The therapy costs hundreds of thousands of dollars.On Monday, there was more heartbreak. The family was denied funding for the treatment.“I should say that we are although walking and eating…we sometimes feel that we are not alive. And we have many challenges. And there is no hope from any end,” said Amir Akhter.

It’s something Amir Akhter would never say in front of them but without therapy, Muhammad, Sara and Kadija could die. Still, they’re hopeful.

They spent Monday in Regina, urging the Saskatchewan Ministry of Health and the premier to reverse the province’s decision.“Hopefully if we get that treatment … there is a new life, new whole life, new world, everything for us, for our family,” said Amir Akhter.

But Saskatchewan Health Minister Dustin Duncan argues that because the kids are past the age of five, this particular treatment may not even be effective.  “The health world is so complex and there are so many diseases and so many drugs. You want to be able to say yes to everyone but … healthcare dollars as wisely as possible,” Duncan said.

Still, the minister says he will have a second look.  On the other hand, others argue that there’s no time for that and that this therapy is their last shot at survival.  “They deserve a lifeline. They deserve some hope. And the potential of halting this disease is so critically important to this eight-year-old, this 10-year-old this 13-year-old and of course, this family,” said Saskatchewan NDP deputy leader Trent Wotherspoon.  Although a decision has already been made, they are expected to hear back about a reversal in the next 10 days.  Until then, the family will hold on to all they have, their children and hope.

© Shaw Media, 2015

SOURCE:  http://or-politics.com/canadahealth/saskatoon-family-denied-funding-for-treatment/102383/

06 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Newspaper, Radio, Saskatoon Siblings Permalink

Funding For Rare Disease Treatment Denied, But Health Ministry Will Reconsider

Sticky Post By On 6 October, 2015
Written by Carol Thomson
Category: Local News

The executive director of an advocacy group for rare diseases like Morquio Syndrome is puzzled as to why access for treatment has been denied for 3 Saskatoon siblings.

Andrew McFadyen, from the Isaac Foundation, along with the children and their father Amir Akhter spoke with Saskatchewan’s Health Minister this morning (Mon) in hopes of changing his mind.

McFadyen says the file on this case was sent to Ontario for review by only one person with no opportunity for different points of view, so today, he took the opportunity to speak to Dustin Duncan about why he should reverse the decision.

He adds that the Akhter family first requested access to provincial funding in March of 2014 and although the treatment wouldn’t cure the children, it could dramatically halt progression of the disease.

Dustin Duncan has said he will have another look at the case, but no date has been set for a decision.

The treatment is expensive at approximately $300,000 per year per child, but McFadyen says you could also argue that the cost of dealing with the effects of the disease when not treated could be similar when considering hip surgeries, corneal replacements, medical appointments, and other costs.

Duncan says the treatment costs $500,000 per patient.

There is a 2 year old in the province that has funding for treatment, which Duncan says is because the belief is that it’s more effective for children under 5.

McFadyen disputes that saying there is no data that actually proves that to be true.

SOURCE: http://www.saskatoonhomepage.ca/index.php?option=com_content&view=article&id=69454:funding-for-rare-disease-treatment-denied-but-health-ministry-will-reconsider&catid=61&Itemid=179

06 Oct 2015
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Sask Health Minister wants second opinion on treatment for three Saskatoon children

Sticky Post By On 6 October, 2015

Saskatchewan Health Minister Dustin Duncan is asking for a second opinion on an unproven drug to treat three young Saskatoon children.

Initially coverage for the drug was denied last week.

The drug is been used to treat a very rare and fatal blood disease called Morquio Syndrome.

Health Minister Duncan says he wants to make sure they do their due diligence.

There is one child in the province who is on the drug to treat the same disease. However studies seem to show it’s effective for those under the age of five.

But in this case the three children are eight or older.

The drug costs five hundred thousand dollars a year per patient.

SOURCE: http://www.620ckrm.com/ckrm-on-air/ckrm-local-news/12882-sask-health-minister-wants-second-opinion-on-treatment-for-three-saskatoon-children

06 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Radio, Saskatoon Siblings Permalink

Saskatchewan health minister to seek second opinion for family denied drugs

Sticky Post By On 6 October, 2015
at 18:36 on October 05, 2015, EDT.

The Canadian Press

REGINA – Saskatchewan’s health minister says he will ask for a second opinion on an unproven drug for three Saskatoon children with a rare and often fatal blood disease.

The Akhter family has met with Dustin Duncan to ask that the government cover the expensive treatment for Morquio syndrome.

It would cost $500,000 a year per child and the family’s funding request was turned down by ministry officials last week.

The drug is not a cure, although studies indicate it is effective in slowing down the disease in children under five.

In this case, the three children are eight, 10 and 12.

Duncan says he wants to make sure the department does its due diligence.

“It’s a very difficult situation, so I’m going to ask the ministry to consult further with some other out-of-province experts to give me a second opinion on this,” Duncan said Monday.

“While the answer last week was no, it doesn’t mean it’s no forever.”

There is one child in the province who is on the drug.

Duncan said it’s important to get as much information as possible through the drug review process and from the manufacturers.

NDP Opposition critic Trent Wotherspoon said he feels the family should get coverage on compassionate grounds, even if the drug is not 100 per cent proven.

“They deserve a lifeline. They deserve some hope,” Wotherspoon said. “The potential of halting this degenerative disease and the progression of that disease is so critically important (to these children).”

Morquio syndrome is a hereditary disease in which the blood lacks a certain enzyme. The syndrome is characterized by skeletal defects such as stunted growth, deformity of the spine and chest, short neck and loose and enlarged joints. It can also lead to thin tooth enamel and corneal clouding.

The Isaac Foundation, an organization that funds research projects aimed at finding a cure for Morquio syndrome, is advocating for the Akhters.

Executive director Andrew McFadyen said the decision to deny funding was made on scant evidence.

“This was only looked at by one reviewer in Ontario, who clearly disregraded the international treatment guidelines, who clearly ignored the Canadian expert opinion on treating this disease,” McFadyen said.

The ministry has suggested the family take a long-term palliative approach to care for the children.

McFadyen suggested that may prove even more costly to the health-care system.

“When we look at the total cost of that drug, it’s often noted that the cost to not treat these children may be the same … when you look at interventions, medical appointments, hip replacements, corneal transplants, etc.”

(CKRM, CJWW, The Canadian Press)

Content Provided By Canadian Press.

Source:  http://www.cfra.com/HealthCP/Article.aspx?id=481958
06 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Newspaper, Saskatoon Siblings, Television Permalink

Treatment funding denied for 3 children with rare genetic disease

Sticky Post By On 6 October, 2015

SASKATOON – It’s a parent’s worst nightmare; watching your child lose a battle to a devastating disease. Now imagine having to suffer through it multiple times.

Muhammad, Sara and Kadija Akhter suffer from a rare but crippling genetic disease called Morquio Syndrome that’s changed their childhood.

Video – http://globalnews.ca/video/2260432/treatment-funding-denied-for-3-children-with-rare-genetic-disease

“This syndrome is progressive. So every day they are losing something … they’re losing more and more. So it’s getting tougher for the family as well as the kids,” said their father, Amir Akhter.

There is no cure, but until recently, there was still hope. The family was anxiously hoping the province could pay for a treatment called Vimizim. The therapy could help them live longer and could even halt the progression of their disease.

The therapy costs hundreds of thousands of dollars.

On Monday, there was more heartbreak. The family was denied funding for the treatment.

“I should say that we are although walking and eating…we sometimes feel that we are not alive. And we have many challenges. And there is no hope from any end,” said Akhter.

It’s something Amir Akhter would never say in front of them but without therapy, Muhammad, Sara and Kadija could die. Still, they’re hopeful.

They spent Monday in Regina, urging the Saskatchewan Ministry of Health and the premier to reverse the province’s decision.

“Hopefully if we get that treatment … there is a new life, new whole life, new world, everything for us, for our family,” said Akhter.

READ MORE: Rare genetic disease diagnosed in 3 kids from same Saskatoon family

But Saskatchewan Health Minister Dustin Duncan argues that because the kids are past the age of five, this particular treatment may not even be effective.

“The health world is so complex and there are so many diseases and so many drugs. You want to be able to say yes to everyone but … healthcare dollars as wisely as possible,” Duncan said. Still, the minister says he will have a second look.

On the other hand, others argue that there’s no time for that and that this therapy is their last shot at survival.

“They deserve a lifeline. They deserve some hope. And the potential of halting this disease is so critically important to this eight-year-old, this 10-year-old this 13-year-old and of course, this family,” said Saskatchewan NDP deputy leader Trent Wotherspoon.

Although a decision has already been made, they are expected to hear back about a reversal in the next 10 days.

Until then, the family will hold on to all they have, their children and hope.

© Shaw Media, 2015

Source: http://globalnews.ca/news/2260420/saskatoon-family-denied-funding-for-treatment/

06 Oct 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Newspaper, Saskatoon Siblings Permalink

Province says no to medicine for three children, but will review decision

Sticky Post By On 6 October, 2015

Children suffering from crippling genetic disease
CBC News Posted: Oct 05, 2015 6:43 PM CT Last Updated: Oct 05, 2015 7:00 PM CT
The province’s health ministry says it won’t pay for a costly drug that may help three children with a crippling genetic disease, but Health Minister Dustin Duncan said he will ask for a second opinion.

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).

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.

Muhammad Amir Akhter is the children’s father. He said the disease can be life-threatening.

“Enzyme replacement therapy like Vimizim is the last resort,” Akhter said.

He said despite the current decision, he is staying positive. “It’s pretty hard for us, because this is the last hope here.”

Health minister will get a second opinion

Health Minister Dustin Duncan explained the decision to reject the drug coverage.

“These are very, very complex cases,” said Duncan.

He said in this case there is not enough evidence to prove that the drug will be effective for people over the age of five.

“There’s a lot of opinions on this. And so while we do rely and have relied on a previous case, on an out-of-province expert I’m asking the ministry to consult with others that may have some information on this particular case.”

Duncan said the ministry will review some of the medical debate about the efficacy of the drug, and will invite the Akhter family to submit any further evidence they find.

“While the answer last week was no, it doesn’t mean it’s no forever.”

The Opposition NDP said the children should get the drug since it is their only hope. It added that effectiveness can be monitored while they take it.

05 Oct 2015
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LIFE-SAVING TREATMENT DENIED FOR AILING SASKATOON SIBLINGS

Sticky Post By On 5 October, 2015

The Saskatchewan Ministry of Health has denied funding for a life-saving treatment required by three siblings from Saskatoon.  8 year-old Sara Amir, along with her siblings Khadija, 10 and Muhammad, 12, suffer from MPS IVA (Morquio Syndrome) and require the life-saving treatment immediately in order to halt further progression of their devastating disease. The Isaac Foundation and The Canadian Society for Mucopolysaccharide & Related Diseases (Canadian MPS Society) are calling on Health Minister Dustin Duncan and Premier Brad Wall to take action, review and reverse the decision, and ensure that treatment begins immediately. Without access to therapy, Sara, Khadija, and Muhammad face a long and painful decline and death at a young age. The Isaac Foundation and the Canadian MPS Society will meet directly with Minister Duncan at 11:00 am on Monday, October 05th to urge the Minister to intervene and save the children.

Sufferers of Morquio Syndrome lack an enzyme in their blood that breaks down cellular waste in the body. This waste builds up in the bones, tissues, organs, and muscles of affected individuals and leads to many devastating symptoms including heart and airway disease, corneal clouding, stiffening of the joints, shortened stature, and premature death.

Andrew McFadyen, Executive Director of The Isaac Foundation, an advocacy, research, and family support organization that specializes in MPS related diseases, is disappointed by the decision and is urging an immediate reversal to save the lives of the children. “The decision to deny this life-saving treatment for these children is outrageous, heartless, and cruel. This therapy has been recommended by a Canadian Expert Panel comprising of MPS experts from BC, Alberta, Saskatchewan, Ontario, and Quebec, and International Treatment Guidelines for Morquio Syndrome highlight this treatment as the gold standard of care for affected patients. To prevent these kids from receiving the care they require is needless and callous, and shows a reckless disregard for what our Canadian Health Care System purports to stand for –a health care system that was ironically born in this very Province.” He adds, “The Ministry is telling this family to enter a long-term palliative approach to care for their children instead of ensuring that disease progression is halted now. They are allowing them to die, instead of taking leadership and doing the responsible and ethical thing by providing them with the help they need. It’s shamefully disgraceful.”

While not a cure for Morquio Syndrome, the necessary Enzyme-Replacement Therapy (ERT) is designed to provide patients with a synthetic version of the enzyme they are lacking by infusing small doses into the patient’s bloodstream on a weekly basis. The treatment slows down or halts progression of the disease in patients, improves endurance, walking distance, breathing problems, and provides other benefits to sufferers that dramatically improve their quality and length of life. International experts and a Canadian Panel of Genetics Specialists have all recommended Vimizim as the front-line treatment for Morquio Syndrome. Vimizim was approved by Health Canada in July 2014, and is currently being reimbursed for use by patients in Saskatchewan, Ontario, and Quebec. Recently, the National Institute for Health and Care Excellence (NICE) recommended reimbursement for all 88 patients suffering from Morquio Syndrome throughout the UK.

McFadyen is puzzled as to why access for treatment was denied, especially considering the weight of available evidence and Canadian and International expert guidelines urging it’s approval. In addition, the Province already provides access to patients suffering from every other form of MPS requiring the same kind of treatment. He expects it comes down to financial considerations due to the high cost of the drug, coupled with a recent negative recommendation from the Common Drug Review (CDR), that has clouded the judgment of decision makers at the Ministry.

Jamie Myrah, Executive Director of the Canadian MPS Society, a national patient association that serves those affected by MPS and related lysosomal diseases, couldn’t agree more.   “We know this treatment works and the Province knows that ERT’s for MPS diseases are currently the only chance patients have of living long, healthy lives. We recognize that the CDR gave this treatment a negative recommendation, but it did so for all the other MPS ERT’s as well; yet every province in the country – including Saskatchewan – still ensures access for those patients. While ERT treatment for MPS is expensive, it is often just as expensive – if not more expensive – to not treat these kids. It simply doesn’t make sense to make these children suffer a slow and painful decline when we could stop or dramatically slow the progression of the disease with the treatment being requested.”

Naturally, the Akhter family has been devastated by the diagnosis of their kids. “Since receiving these diagnoses, we’ve been sick with guilt, grief, and worry. Our world will never be the same,”said the siblings’ father, Amir. “The only comforting factor since receiving this news has been the knowledge that a treatment is available to help my kids.  We want to be able to do everything we can for our children to give them everything they deserve in this world, including a fair shot at a healthy life. We’ve now lost hope –our kids have been handed a death sentence by this government. This disease is not their fault.”

McFadyen questions the process used by the Saskatchewan Ministry of Health in making their decision, noting the family first requested access in March of 2014. He notes that in August of 2015, the file was finally sent to Ontario for review by one individual alone, with no opportunity allowed for a rigorous discussion with the rest of the MPS Experts throughout Canada –experts that deal with the disease on a daily basis and some of whom have seen first-hand how well other children receiving the treatment are doing. “The only thing stopping these children from beginning their treatments is the lack of funding by the Province. It’s incredulous to me that one individual gets to pick and choose who does or doesn’t get access to the life-saving treatment they need, especially considering the fact that a precedent has been set with other children in this province and in other provinces across the country receiving access to the medication. One individual is making life-altering decisions on behalf of this Ministry and the people of Saskatchewan, and it’s led to these kids lives being left in peril.”

He is hopeful that a review and a reversal of this decision can take place immediately, and both he and Myrah are urging the Health Minister and the Premier to take action now. Says McFadyen, “Brad Wall’s government has the opportunity to do the right thing and ensure that Sara, Khadija, and Muhammad receive the treatment they so desperately need. It’s the role of government to protect and ensure fair and equitable access to Health Care for all people in Saskatchewan, regardless of whether they are impacted by a rare disease or not. This family needs to concentrate on treating their children’s disease, not wading through a bureaucratic maze of paperwork and pinning their hopes on the appeals process or the recommendation of one person alone –a person who has never used this therapy or seen it’s effectiveness – at the Ministry of Health. We strongly call on this government to take action and save the life of these children now. They can’t afford to wait.”   

                                                                                                                         # # #

For more information about this topic, or to schedule an interview with Andrew McFadyen, please call Andrew at 613-328-9136 or email Andrew at mcfadyena@me.com. The Isaac Foundation can also arrange interviews with parents of patients currently receiving this treatment in Canada.

15 Sep 2015
Sticky Post By Posted in Advocacy, Blog Postings, Media, Morquio, MPS IVA, Newspaper, Saskatoon Siblings Permalink

Saskatoon family awaits answer on treatment for crippling disease

Sticky Post By On 15 September, 2015

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.