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.”   

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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 The Isaac Foundation can also arrange interviews with parents of patients currently receiving this treatment in Canada.

Treatment Denied!

Treatment-DeniedHi Everyone,

Stunningly, Shire PLC has decided against providing the life-sustaining treatment that Jack Fowler desperately needs.  Jack needs immediate access to the Intrathecal ERT that is currently undergoing a clinical trial; a trial that is showing incredibly promising results.  The Isaac Foundation made contact with Shire CEO Flemming Ornskov and their Head of Research and Development Phil Vickers over the course of the past week and we presented our case and our plea for them to save Jack’s life.  Sadly, and shockingly, Shire has made the decision not to help.

The case that was presented to Shire was very comprehensive, and the argument for providing treatment for Jack remains incredibly strong.  Jack requires Intrathecal ERT – essentially a similar treatment that MPS children receive, except this is directly administered into the brain.  The clinical trial that Shire is currently undergoing is showing promise, with positive results reported from many families that are currently part of the trial.  Thus far, this trial has been going on for 3 years, without any adverse reactions or safety concerns.  In short – there is ample  evidence to show that it is safe, and ample evidence to show that it works.

We have requested that Jack be provided compassionate access to this treatment because of the results that have been returned thus far.  Results are showing that this treatment works. But what is compassionate access?  As the FDA aptly describes, “Expanded access, sometimes called ‘compassionate use,’ is the use of an investigational drug outside of a clinical trial to treat a patient with a serious or immediately life-threatening disease or condition who has no comparable or satisfactory alternative treatment options. 

FDA regulations allow access to investigational drugs for treatment purposes on a case-by-case basis for an individual patient, or for intermediate-size groups of patients with similar treatment needs who otherwise do not qualify to participate in a clinical trial. They also permit expanded access for large groups of patients who do not have other treatment options available, once more is known about the safety and potential effectiveness of a drug from ongoing or completed clinical trials.”1

Jack is clearly battling a life-threatening condition.  He clearly needs access to the treatment that Shire has developed as his health and cognitive abilities are rapidly deteriorating.  And he needs it now, or he faces certain death.  The case for expanded access has never been more clear.

We made it known to Shire that we have a location where Jack can receive his treatment.  Funding has been made available to ensure all baseline studies are completed and to ensure on-going evaluations and safety monitoring are put in place.  We have a physician who has agreed to treat Jack, and we are confident that any Independent Review Board will approve that treatment.  FDA guidelines allow for expanded access for such a therapy.  Once again, we know it’s safe, and we know it works.  The only roadblock to providing Jack with his fair chance at life is Shire.  To many, this is inhumane and unacceptable.

In truth, the decision to deny Jack treatment came down on Monday of this week.  Since that decision was made, I have been trying to get information as to the rationale behind the denial.  Important questions have been left unanswered.  What were the criteria used to deny this child the treatment he needs?  What are the criteria used to allow or deny any child suffering from this disease access to the drug on a compassionate basis?  I’ve been struggling to receive answers, and I have put those very questions in front of both CEO Flemming Ornskov and Phil Vickers.  I’ve asked for the answers in writing, and have been having a very hard time receiving a prompt response.  In my eyes, a company taking away all hope from a child should at least be able to provide an answer as to why, and in a timely fashion.

We have already been contacted by numerous families throughout the MPS community who are shocked, angered, and outraged by this decision.  Many families have told me that they feel this is another example of a large pharmaceutical company deciding the fate of their children.  Some families have also threatened to boycott the remainder of the clinical trial, a step that could have all sorts of repercussions on the study as it currently exists.

Plans are being made for a teleconference between Shire plc, the Fowler Family, and The Isaac Foundation.  This call won’t take place until Monday, and we will keep you informed of news as it occurs.  For now, please drop over to our message board for Jack and leave a note for Jack’s family (PLEASE VISIT HERE).  As you can well imagine, they are devastated beyond words.  Jamie Fowler, Jack’s mom, has updated her site to let her friends and family know the devastating news.  Please visit her site here to read and comment.

Thank you for your continued support for our kids.  Sadly, until we find a cure these fights for life will remain.  And we will never back down when a child’s life is in danger, especially when we know there is something out there that can help.

With Love, and with thanks,