Rare Disease

10 Dec 2015
Sticky Post By Posted in Advocacy, Blog Postings, Morquio, MPS IVA Permalink

LIFE-SAVING TREATMENT DENIED FOR AILING NEW BRUNSWICK CHILD

Sticky Post By On 10 December, 2015

FOR IMMEDIATE RELEASE

PDF Version – www.theisaacfoundation.com/nbtreatment.pdf

Ministry of Health Denies Funding; Premier and Minister of Health Refuse to Allow Appeal; Treatment Already Being Funded in Saskatchewan, Ontario and Quebec

The New Brunswick Ministry of Health has denied funding for a life-saving treatment required by an ailing 10-year old Baie-Sainte-Anne child. Morgan Doucet suffers from MPS IVA (Morquio Syndrome) and requires the life-saving treatment immediately in order to halt further progression of his devastating disease. The Isaac Foundation and The Canadian Society for Mucopolysaccharide & Related Diseases (Canadian MPS Society) are calling on Health Minister Victor Boudreau and Premier Brian Gallant to take action, review and reverse the decision, and ensure that treatment begins immediately.

Without access to therapy, Morgan faces a long and painful decline and death at a young age. The Isaac Foundation met with Minister Boudreau on December 9, 2015 but the Minister declined to make any commitments regarding an appeal for Morgan. The family has publicly given permission for the Minister to comment on Morgan’s application and condition so that the Minister can be forthcoming with the public about why he isn’t allowing an appeal.

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. The treatment being denied to Morgan dramatically slows or halts the disease, improves pulmonary function, walking ability, and gives patients the chance at a normal life. It is currently being funded in Saskatchewan and for patients in Ontario and Quebec.

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 Morgan’s life. “The decision to deny this life-saving treatment for Morgan 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 this child from receiving the care he requires is needless and callous, and shows a reckless disregard for what our Canadian Health Care System purports to stand for.” He adds, “The Ministry is telling this family to enter a long-term palliative approach to care for their child instead of ensuring that disease progression is halted now. They are allowing him to die, instead of taking leadership and doing the responsible and ethical thing by providing him with the help he needs. It’s shamefully disgraceful.”

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, notes that there were serious issues with the initial review that denied Morgan the treatment he needs.   “The initial review was done by a reviewer who has never used this treatment, using the flawed CDR report as the basis for his decision. This recently happened with three children in Saskatchewan. However, when the Minister realized the review for those files was flawed, he ordered a new review using real experts dealing with this disease and this treatment. He chose International experts to take a second look at the files and those experts came back with a decision to treat. We feel the Premier should also take a second look at Morgan’s file. We’re not asking for much – just a second look at this decision. Morgan’s life depends on it and I would hope the Premier and the Minister of Health would want to ensure they get things right.”

McFadyen also questions the process used by the New Brunswick Ministry of Health in making their decision, noting the family first requested access in October of 2014. He notes that in March 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 this child from beginning his treatment 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 similar medications. One individual is making life-altering decisions on behalf of this Ministry and the people of New Brunswick, and it’s led to Morgan’s life being left in peril.”

Myrah adds, “We know this treatment works and the Province knows that ERT’s for MPS diseases are currently the only chance patients have of living longer, healthier 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 New Brunswick – 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.”

Both Myrah and McFadyen are hopeful that a review and a reversal of this decision can take place immediately, and they are urging the Health Minister and the Premier to take action now. Says McFadyen, “Brian Gallant’s government has the opportunity to do the right thing and ensure that Morgan receives the treatment he so desperately needs. It’s the role of government to protect and ensure fair and equitable access to Health Care for all people in New Brunswick, 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 this little boy now. He 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.

 BACKROUNDER  

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.

09 Dec 2015
Sticky Post By Posted in Advocacy, Morquio, MPS IVA, Uncategorized Permalink

This Is Not OK – When Answers Aren't Really Answers

Sticky Post By On 9 December, 2015

To me, this is the most difficult part to accept. No appeal? No opportunity to ensure the decision was rendered correctly before we condemn this little boy to a life of pain and suffering…to death? Prisoners on death row – prisoners there for the heinous crimes they have committed – have multiple opportunities to appeal their decided fate. Before that, their fates get decided by collections of people, people who have the opportunity to hear all viewpoints, all expert testimony, everything. They exhaust all avenues in making death sentence rulings, and then we allow those prisoners the opportunity to appeal and fight their fate. Not so for this little boy, it appears, and that will never be OK with me.  ~Andrew McFadyen, Executive Director, The Isaac Foundation

Late last night, I boarded a plane to Fredericton with hopes of meeting with the Minister of Health, Victor Boudreau, about 10-year-old Morgan Doucet.  Recently, the Minister denied access to the life-saving medication that Morgan needs immediate access to, thereby condemning Morgan to a life of pain and suffering, and immediately signalling that Morgan’s care should enter a palliative approach to his disease.

This is NOT OK, for a whole host of reasons, not least of which is that we CAN help Morgan, we can stop his disease progression, and we can do it quickly with access to the treatment he needs.

This is not OK because the treatment Morgan needs has been approved by Health Canada for almost 2 years now, and it’s being used to help save the lives of  33 patients throughout the country, while being fully reimbursed for use in patients in Saskatchewan, Ontario, and Quebec.  It’s also funded in most developed countries throughout the world – including the UK – where they recently took steps to fund every patient that needs access immediately.

This is not OK because Morgan’s review was done by one person alone, a person who has never used this treatment before and a person who isn’t  a practicing physician anymore.  He’s a bureaucrat, paid by the government of Ontario to review files and render life and death decisions about kids – life and death decisions that come without rigorous debate and input from the true experts in the field.

This is not OK because the overwhelming evidence and recommendations by those true experts in the field all conclude that this drug works and should be given to patients immediately in order to stave off the ravages of the disease.  It has been prescribed by Morgan’s genetics specialist, it has been recommended for use in patients by the Canadian Expert Opinion on Morquio Syndrome and it is recommended as the front line treatment for Morquio Syndrome in the International Treatment Guidelines for Morquio Syndrome.  In fact, it’s considered the gold standard of care for patients suffering from this disease, and it’s inhumane and unethical to deny patients the help they need when they need it most.

This is not OK because we are allowing those bureaucrats and politicians to overrule and contradict medical experts, clinicians, and researchers, regarding best practice and treatment for this little boy suffering from this devastating disease.  In essence, the Minister and his bureaucrats are making clinical decisions where they are not qualified to do so.

And this is not OK because denying life-saving treatment to dying kids is not what our Health Care System is supposed to stand for, it’s not the principles that our country and our Medicare Act were founded on, and it’s not who we want to be as a Canadian People.

With all this on my mind, I took the late flight here for an arrival in New Brunswick in the middle of the night.  I came  to Question Period this morning to hear MLA Jake Stewart ask the hard questions of the Minister that he’s been avoiding answering.  Jake was poignant, thoughtful, and strong in his belief that Morgan should receive access to this drug.  After all, the Liberals themselves said last year that they “can – and MUST – do better” for our kids suffering from rare diseases.

With three questions asked, Minister Boudreau decided not to provide proper answers.  He started by saying there is a process, and that process includes a CDR report and they won’t fund drugs until that process is complete (it is, and was completed a long time ago).  He neglected to mention that no MPS drugs ever get the blessing of the CDR panel, yet New Brunswick is paying for every other drug for MPS diseases that are currently on the market.  He neglected to point out that the only patient with MPS in this province that isn’t receiving the life saving drug they need is Morgan.  He neglected to say that this has less to do with what the experts say and more to do with the cost of the drug, something that should never be a hinderance to proper care in this country.

Minister Boudreau commented on the process used – Morgan’s file was sent to a reviewer in Ontario to make a decision whether to treat or not.  One reviewer.  With no avenue for appeal after any decision is rendered.  He didn’t comment on that in Question Period, but after the decision was delivered I asked the Ministry of Health how we can appeal the ruling.  I was ignored.  I asked the Minister of Health 7 times for a meeting or information about how we can appeal the ruling.  I was ignored.  And I asked the Premier multiple times for a meeting to discuss an appeal.  As you all know, I received a note telling me that he was unable to meet, with apologies “for the inconveniences this may cause.”

To me, this is the most difficult part to accept.  No appeal?  No opportunity to ensure the decision was rendered correctly before we condemn this little boy to a life of pain and suffering…to death?  Prisoners on death row – prisoners there for the heinous crimes they have committed – have multiple opportunities to appeal their decided fate.  Before that, their fates get decided by collections of people, people who have the opportunity to hear all viewpoints, all expert testimony, everything.  They exhaust all avenues in making death sentence rulings, and then we allow those prisoners the opportunity to appeal and fight their fate.  Not so for this little boy, it appears, and that will never be OK with me.

As I was typing this entry, Minister Boudreau dropped over to meet with me to discuss Morgan and his plea for help.  I am thankful that he did, as I was able to present everything I’ve written above.  He made a commitment to take a look at this case but truly believes in the process put in place.  In his words, he will make not promises or commitments, but he will look at things and get back to me.

Knowing this, I implore Minister Boudreau to take a real look at this case and seek a new review of Morgan’s application.  I asked Minister Boudreau to seek outside opinions from a panel of 3 or 5 International and Canadian experts that deal front-line with this disease and this treatment each and every day.  I asked Minister Boudreau to allow a rigorous discussion on all available evidence that exists on this drug and the impact it has on patients, and I asked for expediency because it’s unethical to make a child and his family wait.

I asked this to allow for a transparent and fair process for Morgan.  His life depends on it and it’s the right thing to do.  And in the end, if the Minister doesn’t want to listen to and seek feed back from clinical expert opinion, patient reported outcomes, peer-reviewed published journals, etc., then who will he listen to?  The opinion of 1 person who has never used this treatment and didn’t engage with those experts to help make his decision on Morgan’s fate?

If that’s the case, it’ NOT OK.

I’ll be here for a short while and will be putting out a PR tomorrow morning so that media can cover this story if they choose.  Thank you for all of your support over the past little while – our last entry was seen over 20,000 times in a few short days.  Sharing Morgan’s story is helpful, and staying ready to fight means the world to us.

I’ll update with any news as it develops.

09 Dec 2015
Sticky Post By Posted in Advocacy, Morquio, MPS IVA, Uncategorized Permalink

This Is Not OK – When Answers Aren’t Really Answers

Sticky Post By On 9 December, 2015

To me, this is the most difficult part to accept. No appeal? No opportunity to ensure the decision was rendered correctly before we condemn this little boy to a life of pain and suffering…to death? Prisoners on death row – prisoners there for the heinous crimes they have committed – have multiple opportunities to appeal their decided fate. Before that, their fates get decided by collections of people, people who have the opportunity to hear all viewpoints, all expert testimony, everything. They exhaust all avenues in making death sentence rulings, and then we allow those prisoners the opportunity to appeal and fight their fate. Not so for this little boy, it appears, and that will never be OK with me.  ~Andrew McFadyen, Executive Director, The Isaac Foundation

Late last night, I boarded a plane to Fredericton with hopes of meeting with the Minister of Health, Victor Boudreau, about 10-year-old Morgan Doucet.  Recently, the Minister denied access to the life-saving medication that Morgan needs immediate access to, thereby condemning Morgan to a life of pain and suffering, and immediately signalling that Morgan’s care should enter a palliative approach to his disease.

This is NOT OK, for a whole host of reasons, not least of which is that we CAN help Morgan, we can stop his disease progression, and we can do it quickly with access to the treatment he needs.

This is not OK because the treatment Morgan needs has been approved by Health Canada for almost 2 years now, and it’s being used to help save the lives of  33 patients throughout the country, while being fully reimbursed for use in patients in Saskatchewan, Ontario, and Quebec.  It’s also funded in most developed countries throughout the world – including the UK – where they recently took steps to fund every patient that needs access immediately.

This is not OK because Morgan’s review was done by one person alone, a person who has never used this treatment before and a person who isn’t  a practicing physician anymore.  He’s a bureaucrat, paid by the government of Ontario to review files and render life and death decisions about kids – life and death decisions that come without rigorous debate and input from the true experts in the field.

This is not OK because the overwhelming evidence and recommendations by those true experts in the field all conclude that this drug works and should be given to patients immediately in order to stave off the ravages of the disease.  It has been prescribed by Morgan’s genetics specialist, it has been recommended for use in patients by the Canadian Expert Opinion on Morquio Syndrome and it is recommended as the front line treatment for Morquio Syndrome in the International Treatment Guidelines for Morquio Syndrome.  In fact, it’s considered the gold standard of care for patients suffering from this disease, and it’s inhumane and unethical to deny patients the help they need when they need it most.

This is not OK because we are allowing those bureaucrats and politicians to overrule and contradict medical experts, clinicians, and researchers, regarding best practice and treatment for this little boy suffering from this devastating disease.  In essence, the Minister and his bureaucrats are making clinical decisions where they are not qualified to do so.

And this is not OK because denying life-saving treatment to dying kids is not what our Health Care System is supposed to stand for, it’s not the principles that our country and our Medicare Act were founded on, and it’s not who we want to be as a Canadian People.

With all this on my mind, I took the late flight here for an arrival in New Brunswick in the middle of the night.  I came  to Question Period this morning to hear MLA Jake Stewart ask the hard questions of the Minister that he’s been avoiding answering.  Jake was poignant, thoughtful, and strong in his belief that Morgan should receive access to this drug.  After all, the Liberals themselves said last year that they “can – and MUST – do better” for our kids suffering from rare diseases.

With three questions asked, Minister Boudreau decided not to provide proper answers.  He started by saying there is a process, and that process includes a CDR report and they won’t fund drugs until that process is complete (it is, and was completed a long time ago).  He neglected to mention that no MPS drugs ever get the blessing of the CDR panel, yet New Brunswick is paying for every other drug for MPS diseases that are currently on the market.  He neglected to point out that the only patient with MPS in this province that isn’t receiving the life saving drug they need is Morgan.  He neglected to say that this has less to do with what the experts say and more to do with the cost of the drug, something that should never be a hinderance to proper care in this country.

Minister Boudreau commented on the process used – Morgan’s file was sent to a reviewer in Ontario to make a decision whether to treat or not.  One reviewer.  With no avenue for appeal after any decision is rendered.  He didn’t comment on that in Question Period, but after the decision was delivered I asked the Ministry of Health how we can appeal the ruling.  I was ignored.  I asked the Minister of Health 7 times for a meeting or information about how we can appeal the ruling.  I was ignored.  And I asked the Premier multiple times for a meeting to discuss an appeal.  As you all know, I received a note telling me that he was unable to meet, with apologies “for the inconveniences this may cause.”

To me, this is the most difficult part to accept.  No appeal?  No opportunity to ensure the decision was rendered correctly before we condemn this little boy to a life of pain and suffering…to death?  Prisoners on death row – prisoners there for the heinous crimes they have committed – have multiple opportunities to appeal their decided fate.  Before that, their fates get decided by collections of people, people who have the opportunity to hear all viewpoints, all expert testimony, everything.  They exhaust all avenues in making death sentence rulings, and then we allow those prisoners the opportunity to appeal and fight their fate.  Not so for this little boy, it appears, and that will never be OK with me.

As I was typing this entry, Minister Boudreau dropped over to meet with me to discuss Morgan and his plea for help.  I am thankful that he did, as I was able to present everything I’ve written above.  He made a commitment to take a look at this case but truly believes in the process put in place.  In his words, he will make not promises or commitments, but he will look at things and get back to me.

Knowing this, I implore Minister Boudreau to take a real look at this case and seek a new review of Morgan’s application.  I asked Minister Boudreau to seek outside opinions from a panel of 3 or 5 International and Canadian experts that deal front-line with this disease and this treatment each and every day.  I asked Minister Boudreau to allow a rigorous discussion on all available evidence that exists on this drug and the impact it has on patients, and I asked for expediency because it’s unethical to make a child and his family wait.

I asked this to allow for a transparent and fair process for Morgan.  His life depends on it and it’s the right thing to do.  And in the end, if the Minister doesn’t want to listen to and seek feed back from clinical expert opinion, patient reported outcomes, peer-reviewed published journals, etc., then who will he listen to?  The opinion of 1 person who has never used this treatment and didn’t engage with those experts to help make his decision on Morgan’s fate?

If that’s the case, it’ NOT OK.

I’ll be here for a short while and will be putting out a PR tomorrow morning so that media can cover this story if they choose.  Thank you for all of your support over the past little while – our last entry was seen over 20,000 times in a few short days.  Sharing Morgan’s story is helpful, and staying ready to fight means the world to us.

I’ll update with any news as it develops.

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.

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

For Immediate Release – Saskatoon Siblings Await Funding For Life-Saving Treatment

Sticky Post By On 14 September, 2015

FOR IMMEDIATE RELEASE

SASKATCHEWAN SIBLINGS AWAIT FUNDING FOR LIFE-SAVING TREATMENT

Children Diagnosed With Ultra-Rare Condition; Treatment Already Being Funded In Ontario and Quebec

(Sept. 14, 2015) The Saskatchewan Ministry of Health is currently considering an application for exceptional funding of a life-sustaining treatment required by three siblings from Saskatoon. 8 year-old Sara Amir, along with her siblings Khadija, 10 and Muhammad, 12 have been diagnosed with Morquio Syndrome, and all three require the life-sustaining treatment immediately in order to halt further progression of this devastating disease. The Saskatchewan Ministry of Health received their application to begin treatment with Vimizim, an enzyme replacement therapy approved by Health Canada in July 2014, seven months ago. A review of the application has just been initiated and a decision is expected in the coming weeks.

The children suffer from a rare enzyme deficiency called MPS IVA (also known as Morquio A Syndrome). Sufferers of Morquio Syndrome 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, impaired mobility, shortened stature, and premature death.

While there is no known cure for Morquio Syndrome, a treatment does exist. Vimizim is an Enzyme-Replacement Therapy (ERT) 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 the 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. It was approved by Health Canada in July 2014, and has been reimbursed for use by patients in Ontario and Quebec. Recently, the National Institute for Health and Care Excellence (NICE) recommended reimbursement for all patients suffering from Morquio Syndrome throughout the UK.

Andrew McFadyen, Executive Director of The Isaac Foundation, an advocacy, research, and family support organization that specializes in MPS related diseases, is urging Health Minister Dustin Duncan and Premier Brad Wall to expedite their decision so the children can get the immediate help they need. Since the application was submitted in March, McFadyen has met with Minister Duncan twice to present all of the expert opinion and Canadian and International data that exists regarding the treatment. “Minister Duncan has been privy to all opinions and guidance from the best medical minds across the globe. All of them have recommended this treatment for these kids and I’m confident that a positive decision will be returned in a speedy fashion.”

Though hopeful of a positive outcome for the family, McFadyen can’t help but feel frustrated by the length of time it’s taken to render a decision. “The Minister has had this file for over 7 months, and the initial request for therapy was submitted 19 months ago. Saskatchewan already pays for every other available treatment for MPS Diseases – MPS I, MPS II, MPS VI. This treatment does the exact same thing – saves lives. With the UK and the US already ensuring access to this treatment, there is ample evidence available to help them with their decision. We’ve given them everything they need – it’s time to take action and save these kids.”

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. “The Canadian Expert Panel and the International Guidelines for treating Morquio A Syndrome both call for treatment to begin as soon as possible to stave off the devastating effects of this disease. With every day that passes, the chance that irreversible symptoms will appear increases. I am hopeful that the Saskatchewan government won’t allow bureaucracy to have a negative impact of the lives of these children and am therefore confident that a positive decision will be returned soon.”

Myrah and McFadyen both note how impactful the treatment has been for patients already receiving therapy in Canada and in most other developed countries throughout the world. Myrah states, “We are seeing kids improve dramatically because of this treatment – kids’ internal organs reducing back down to a normal size, rates of growth increasing, heart function improved, walking distance increased and the use of mobility aids reduced. Until recently, only supportive care that treats the symptoms of the disease was available to patients, including medication, multiple surgeries, and ongoing occupational and physical therapy. By delaying access to the first and only pharmaceutical treatment option available, governments are leaving patients dependent on supportive therapies that do not address the underlying cause of this severely debilitating disorder. We know this works and we know it changes lives.”

McFadyen adds “We have a video of a 17 year old girl prior to starting treatment and she can’t walk more than 10 steps without having to stop. She’s in agony and it’s heartbreaking to see. After 12 weeks on therapy, she’s happy and walking long distances normally. I’m hopeful we can ensure the same opportunity is given to the Akhter children. It’s the role of government to protect and ensure fair and equitable access to Health Care for all Canadians –regardless of whether they are suffering from a rare disease or not – and we’re calling on this government to take action and save the lives of these children now. They can’t afford to wait.”

 # # #

For more information about this topic, or to schedule an interview to discuss, please call Andrew at 613-328-9136 or email Andrew at mcfadyena@me.com.

 

05 Sep 2013
Sticky Post By Posted in Blog Postings Permalink

Thank You RBC and Arthur Lions Club!

Sticky Post By On 5 September, 2013

AJR_1089The Isaac Foundation extends a huge thank you to the Arthur Lions Club and RBC for their incredibly generous donation to The Isaac Foundation through our satellite office with the More Family.  All funds donated will go directly to funding research and finding a cure for this rare and devastating disease.

The photo to the left shows Darren More with Jasper, accepting the generous donation from the Club.

 

12 Aug 2013
Sticky Post By Posted in Advocacy, Fight For Aleena, Media, Newspaper Permalink

Alberta will help fund critical treatment for young St. Albert girl

Sticky Post By On 12 August, 2013

BY SARAH O’DONNELL, EDMONTON JOURNAL AUGUST 13, 2013 7:34 AM

Alberta will help fund critical treatment for young St. Albert girl

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.

Photograph by: Supplied , Edmonton Journal

EDMONTON –  St. Albert father Dane Sadownyk picked up his three-year-old daughter Aleena and “just hugged her” Monday morning when the family learned the Alberta government will fund a crucial treatment for her rare medical condition.

“It was an extremely emotional moment,” Sadownyk said. “I was so elated. It felt like I could come up for a breath of air. That’s what it felt like, that I can breathe again.”

Aleena’s family and their supporters have been lobbying Alberta Health for a month to approve treatment for Maroteaux-Lamy Syndrome, a rare disease that means she lacks glycosaminoglycan, an enzyme that helps break down cellular waste.

Instead, the waste builds up, restricting movements, damaging organs and clouding eyesight, among other serious health complications. Without treatment, sufferers see their life expectancy cut short. Naglazyme, a synthetic enzyme approved in the U.S. but not Canada, can help break down that cellular buildup.

Though not a cure, weekly infusions could help prevent Aleena’s symptoms from getting worse, the family’s supporters say. Four other provinces have agreed to fund the treatment for seven children with the syndrome — also known as mucopolysaccharidosis type VI or MPS VI — and Aleena’s family was pushing Alberta to quickly approve the expensive but critical treatment, which is expected to initially cost about $300,000 a year.

Sadownyk, who was in Connecticut Monday with his family attending a conference on MPS VI when they heard the news, said they are feeling immense relief. Aleena was diagnosed with MPS VI in April.

“Today is definitely a day we are joyful for her and look forward to the future,” he said.

Andrew McFayden, director of the Isaac Foundation, went through a similar struggle in Ontario when his son Isaac was diagnosed with MPS VI as a toddler and was the first to receive treatment in Canada. He stepped in to assist the Sadownyks with their case and said he shared their feeling of elation Monday.

But McFayden also said the happiness is mixed with frustration that it took so long and that the family’s supporters felt they had to mount a public campaign with the support of MLAs such as Wildrose health critic Heather Forsyth, after the family’s original funding application through the Alberta Rare Disease Program was denied.

“We’ve gone through this numerous times,” McFayden said. “To me, that’s a big problem there still hasn’t been a process put in place by Health Canada for provinces to deal with funding these rare diseases.”

Health Minister Fred Horne said Monday he signed off on the funding for Aleena’s treatment through Alberta’s Short Term Evaluative Drug Therapy program, instead of the Rare Disease program, because Aleena’s case involves a drug not licensed for sale in Canada.

Horne said he weighed several factors, including the clinical evidence, the rarity of the disease, affordability of the drug and the best interest of the patient. Public pressure was not one of those factors, he said.

“I think Albertans would expect their minister and government to make these decisions based on evidence and looking at each case individually,” Horne said. “I’m pleased it’s able to be a positive outcome in this particular case. But these kinds of situations are becoming more common in Canada and it’s because we have more drugs coming out every day and more and more of these drugs are geared to rare diseases.”

Horne said he plans to talk about the need for an orphan drug program — a term used to describe medications for rare diseases — with other provincial health ministers and federal Health Minister Rona Ambrose.

“It’s an issue where we really need to collaborate,” Horne said. “There are only going to be more of these situations in the future.”

Forsyth, MLA for Calgary-Fish Creek, said Alberta Health must work to make the provincial system easier to navigate for families who suddenly find themselves seeking help with a rare condition. “The whole thing is just convoluted,” said Forsyth, who said she was overwhelmed to hear Aleena will receive treatment. “I think they have to simplify things and make it easier for the public to understand.”

NDP health critic Dave Eggen said Alberta Health also needs to speed up the process. “I’m glad something moved,” the Edmonton-Calder MLA said. “But in the future I don’t want to see people’s health compromised by being run through the wringer again.”

With Aleena’s funding approved, the Sadownyks’ next learning curve will be tied to her treatment.

“This is something that is new territory for us,” her father said. “We’ll learn.”

sodonnell@edmontonjournal.com

twitter.com/scodonnell

© Copyright (c) The Edmonton Journal
12 Aug 2013
Sticky Post By Posted in Advocacy, Fight For Aleena, Media, Newspaper Permalink

Aleena Sadownyk will have treatment covered by Alberta government

Sticky Post By On 12 August, 2013

Little girl with rare disease had been rejected for funding previously

 | August 12, 2013

Aleena Sadowynk

The Alberta government has agreed to pay for the treatment of Aleena Sadownyk, who suffers from a rare disease.

After a month of impassioned pleas and lobbying the provincial government, Alberta Health will fund the necessary medical treatment for Aleena Sadownyk – a St. Albert girl with a rare medical condition.

Three-year-old Sadownyk has Maroteaux-Lamy Syndrome, a rare disease that causes cellular waste to build up in her joints and around her heart, restricting movements and damaging organs. A drug called Naglazyme will help, but while it is used in the United Sates, it has not been approved in Canada.

Early estimates indicated it could cost anywhere from $300,000 to $1 million a year to administer the drug, which Aleena Sadownyk would need to help fight the disease. Sadownyk’s parents had been pushing the government to pay for the treatment, along with dozens of others including opposition parties who joined the fight.

On Monday morning, Sadownyk’s father Dane said that the province had agreed to fund the treatment.

“The past few weeks have been very difficult for us, but we can now focus on improving Aleena’s well-being and look forward to her having a bright future ahead,” he said in a statement released by the Isaac Foundation – a patient advocacy group.

Aleena Sadownyk had been denied funding originally through the Alberta Rare Diseases Funding program back in July. During the last two weeks, all of Alberta’s opposition parties called on Health Minister Fred Horne to authorize the treatment.

“It is with tremendous joy that I thank all those who pushed so hard for the government to approve this life-saving treatment for Aleena,” said Wildrose health critic Heather Forsyth in a statement  Monday morning.

“I hope that this painful ordeal for the Sadownyk family will lead to better approval processes for rare disease treatment in our province. We owe it to all Albertans to make sure that their health care system is there for them when rare diseases strike and extremely expensive treatments are their only hope.”

A spokesman with Alberta Health confirmed late Monday that the province will be paying for the drug to treat Sadownyk. The province was waiting for a clinical review to be completed on the benefits of Naglazyme before agreeing to fund it, said John Muir.

“We’ve come back now and carefully considered the circumstances and looked at that clinical review and we will now be funding Naglazyme for this individual,” he said. “We don’t want to be in a situation where we’re rushing any type of medical review on it. We want to make sure patient safety is put first and foremost and ensure it’s the best option for any individual.”

It has been reported that nine children in Canada are currently afflicted by Maroteaux-Lamy Syndrome. The cost of covering the Nagalyzme for Aleena Sadownyk will be around $300,000 a year.

 

12 Aug 2013
Sticky Post By Posted in Advocacy, Fight For Aleena, Media, Newspaper Permalink

Aleena Sadownyk Treatment: Alberta To Pay For Drugs For 3-Year-Old With Rare Enzyme Deficiency

Sticky Post By On 12 August, 2013

CP  |  By Dean Bennett, The Canadian PressPosted: 08/12/2013 12:28 pm EDT  |  Updated: 08/12/2013 5:31 pm EDT

Aleena Sadownyk Treatment
 

EDMONTON – The family of a three-year-old Alberta girl learned Monday she will receive a potentially life-saving drug for a disease that is causing cellular waste to build up in her joints and around her heart.

The province announced it will fund enzyme replacement therapy for Aleena Sadownyk of St. Albert, just outside Edmonton.

“It was very emotional,” Aleena’s father, Dane Sadownyk, said in an interview. “The first thing I did was pick up my daughter and give her a huge hug.

“It’s been a challenging and a tough road.”

A panel of medical experts with Alberta Health Services made the decision to fund the drug Naglazyme for Aleena.

Health Minister Fred Horne did not intervene in the decision, saying it needed to be made for medical reasons alone, but agreed it was a good day for the Sadownyk family.

“Obviously for the family it’s a positive outcome,” said Horne.

“These decisions are difficult, and we face more and more of them all the time in Canada as we have more drugs becoming available to treat rare … diseases.”

The drug costs $300,000 or more per year for children, and because the dosage is tied to weight, can rise to $1 million a year for adults. Those on it are on it for life as the drug does not cure the illness, but simply stops it from worsening.

The Sadownyks had been working with the province since the spring, after Aleena was diagnosed with Maroteaux-Lamy syndrome, also known as MPS VI.

MPS VI patients lack the enzyme in blood that breaks down cellular waste. The waste then accumulates in the bones, tissues, and organs, leading to stiffened joints, heart and airway blockages, and potential death.

Dane said he and his wife, Laura, noticed something was wrong with Aleena — their middle child of three children — when she had trouble raising her arms, touching her shoulder or making a fist.

“We initially just thought she had arthritis because it does run in our family,” he said.

As they learned more about the disease they got in touch with Andrew McFadyen, who advocates for families dealing with MPS VI, to get funding for Naglazyme, which acts as an artificial enzyme to break down the cellular waste.

The drug is not approved yet for use in Canada, although it is in other countries such as the United States. It is permitted in special cases in Canada and is paid for in B.C., Saskatchewan, Ontario, and Quebec.

Of the nine children in Canada with the illness, Aleena was the only one not getting the drug prior to Monday, said McFadyen.

Aleena was initially denied funding for the treatment under the Alberta Rare Diseases Funding Program, but was approved Monday under the Short Term Exceptional Drug Therapy program, which provides the treatment for six months.

Horne said it’s up to the doctors to decide how and when the drug is administered after that.

“The medical experts will make decisions around how the drug is made available, how the monitoring takes places, and with respect to the ongoing coverage,” he said.

The parties had been quietly working on Aleena’s case for weeks when McFadyen, with the help of Heather Forsyth, health critic for official opposition Wildrose party, went public 10 days ago with a plea to Horne to intervene.

“I was hitting roadblock after roadblock (along with) misinformation and a lack of knowledge about the process,” said McFadyen.

“We couldn’t just leave it in the hands of the minister’s office to work through quietly. So that’s why we went public.”

Aleena’s plight took off on social media and the opposition parties, even St. Albert government member Stephen Khan, publicly pushed for an expedited decision.

Forsyth said she was overwhelmed Monday.

“The prognosis wasn’t good if she didn’t get it,” said Forsyth. “We’ve just given this little girl a whole new lease on life, and jeepers why didn’t the government do something about this (sooner).”

Horne said the criticism that the government moved slowly is unfair. He said those who had to make the decision were dealing with an unapproved drug and had to make sure it was right for this patient.

“I think the decision was made on a timely basis,” he said.

 

11 Aug 2013
Sticky Post By Posted in Advocacy, Blog Postings, Fight For Aleena Permalink

ERT – Proof of Effectiveness From Around The World

Sticky Post By On 11 August, 2013

4d5f8030f60e11e2ad2b22000ae80c6b_7The question of whether Alberta Health will fund treatment for Aleena will be based solely on whether the province wants to pay the high cost associated with their decision.  How do I know this?  Well – if they were basing their decision on evidence based science alone, they would have rendered their decision by now – and that decision would have to be a YES.  To support that claim, I thought I’d take the time to include some snippets from some of the finest MPS Researchers in the world.  These quotes are taken directly from readily-available and reputable Journals, with sources included for further study.  There is irrefutable proof that this treatment is effective. There is irrefutable proof that this treatment MUST begin at a very early stage.  Delaying a decision on providing this treatment for Aleena is detrimental to her long-term health!

Here’s some things to ponder and share.  It took me less than 1/2 day to do this review of the available scientific literature regarding the safety and effectiveness that ERT yields patients suffering from MPS VI.  How it’s taken Alberta Health over 4 weeks to find this information is beyond comprehension.  And if they didn’t find this information during their STEDT review, they haven’t done a thorough job evaluating this case at all!  I should note that this is just a small sampling of the literature that is available on the subject, and every article I dug up promotes the same overall message – ERT is the best treatment for children suffering from MPS VI, it’s EFFECTIVE, and it must begin EARLY.  One final note – all articles point to this treatment being SAFE.  With all this clinical data available, Alberta Health must simply be weighing whether they want to pay to save Aleena or not, and shame on them if that’s the case.

Please read and share.  #Treatment4Aleena

“Recently, a consensus panel of international experts in medicine, genetics and biochemistry drafted management guidelines for MPS VI.  The expert panel recommended ERT, when available, as first-line therapy.”  (Schlander, M. and Beck, M. Current Medical Research and Opinion, 2009)

 

“Within 24 weeks of treatment, most patients treated with ERT demonstrated significant and sustained improvements in performance in [6 and 12 minute walking tests].  Long-term safety data show that the therapy has an acceptable safety profile.”  (Harmatz, P.  Turkish Journal of Pediatrics, 2010)

 

“…initiating ERT at an early age is safe and improves overall morphology, clinical outcome, quality of life and the safety profile related to immune response.  The main benefit was in scoliosis, joint range of movement, cardiac valves and facial appearance.” (McGill JJ, Inwood AC, Coman DJ, Lipke ML, de Lore D, Swiedler SJ, Hopwood JJ.  Clinical Genetics, 2010)

 

“As ERT slows down the accumulation of GAG in cells and tissues, it is thought that early treatment might prevent or delay the development of irreversible disease manifestations and limit or prevent growth deceleration.”  (Harmatz, P.  Turkish Journal of Pediatrics, 2010)

 

“…this trend toward decline in pulmonary function can be halted and partially reversed during ERT…” (Harmatz, P., Yo, Z., Giugliana, R., Schwartz, V., Guffon, N., Teles, E., Miranda, C…Decker, C.  Journal of Inherited Metabolic Disease, 2009)

 

“One recently published case control study assessed the impact of [ERT] in two siblings: one treated from the age of 8 weeks, one from 3.6 years.  After 3.6 years of treatment with [ERT], the youngest child had a lack of scoliosis and preserved joint movement, cardiac valves and facial morphology, unlike the older sibling at the same age.  The older sibling had improvements in joint mobility and cardiac valve disease after 3.6 years of treatment with [ERT].”  (Harmatz, P.  Turkish Journal of Pediatrics, 2010)

 

“…it seems desirable to start treating these patients at an early stage, before irreversible damage has occurred.” (Schlander, M. and Beck, M. Current Medical Research and Opinion, 2009)

 

“[ERT] was found to be safe and effective in this young patient population and similar to that seen in clinical trials with older patients.” (Horovitz, D., Magalhaes, T., Acosta, A., Ribeiro, E., Giuliani, L., Palhares, D., Chong, K…Llerena Jr., J. Molecular Genetics and Metabolism, 2013)

 

“This improvement in respiratory function relative to baseline may lead to a decrease in the severity of respiratory illnesses and number of hospitalizations, and an overal improvement in the quality of life of MPS VI patients.” (Harmatz, P., Yo, Z., Giugliana, R., Schwartz, V., Guffon, N., Teles, E., Miranda, C…Decker, C.  Journal of Inherited Metabolic Disease, 2009)

 

“This therapy opens the door to a more proactive approach of managing the disease, i.e slowing down the accululation of GAG rather than alleviating the resulting clinical manifestations.” (Harmatz, P.  Turkish Journal of Pediatrics, 2010)

 

“…conventional cost-effectiveness criterion currently in widespread use does not offer sufficient basis for rejecting reimbursement of expensive treatments for exceptionally rare disorders.”  (Schlander, M. and Beck, M. Current Medical Research and Opinion, 2009)

 

“The prescribed dosage of 1 mg/kg IV weekly with galsulfase ERT is shown to be safe and effective in slowing and/or improving certain aspects of the disease.” (Horovitz, D., Magalhaes, T., Acosta, A., Ribeiro, E., Giuliani, L., Palhares, D., Chong, K…Llerena Jr., J. Molecular Genetics and Metabolism, 2013)

 

“[ERT] weekly has shown to be safe and effective in slowing progression and/or improving the burden of the disease for MPS VI in young children. As early treatment initiation results in improved patient outcomes in this young cohort, early recognition of the more subtle symptoms associated with slowly progressing disease should be a priority to ensure early diagnosis and treatment initiation.”  (Horovitz, D., Magalhaes, T., Acosta, A., Ribeiro, E., Giuliani, L., Palhares, D., Chong, K…Llerena Jr., J. Molecular Genetics and Metabolism, 2013)

 

“ERT positively affected mobility of the shoulder joint, the size of the liver and spleen, cardiac parameters, pulmonary function, certain domains of [quality of life], and the level of GAGs in the urine.” (Brands, M. Oussoren, E., Ruijter, G., Vollebregt, A., van den Hout, H., Joosten, K., Hop, W., Plug, I., Ploeg, A.  Molecular Genetics and Metabolism, 2013)

 

“…results of ERT treatment in MPS VI have been promising, demonstrating clinically and statistically significant improvements in endurance along with a reduction in urinary GAGs.” (Harmatz, P., Giugliani, R., Schwartz, I., Guffon, N., Teles, E., Miranda, M., Wraith, J…Decker, C.  Molecular Genetics and Metabolism, 2008)