Isaac Update – Corneal Transplant

Hi Everyone,

I’ve just returned from one of the most rewarding weeks I’ve ever had in my role as Executive Director of The Isaac Foundation.  I’ll save updating on all that was the MPS and Adulthood Conference for another blog posting.  For now, I wanted to give you an update on Isaac’s health as the conference, for me, was overshadowed by the news we received yesterday (and while I was still away) that Isaac requires and will be undergoing double corneal transplants soon.

This news was shocking and upsetting to us, but not surprising.  We’ve always known that this was on the horizon – or that the possibility of this was on the horizon.  But he’s been so stable in his health during the past 6 months that it left our minds as a possibility.  But stable isn’t quite the right word – he’s improved since January, improved considerably.  I guess this is why the news we got yesterday was a tough to take.

First off – Isaac’s being incredibly brave.  Please know that.  Me?  Not so much, but I’ll stay strong because it’s what I have to do.  He expressed very eloquently that how his eyes are important to him because he need to be able to read (he’s a veracious reader and it’s unimaginable to him that that could be put in jeopardy.)  He wants the surgery to protect that hobby, which is both incredibly cute and heartbreaking.

Now – corneal transplant…what is this and why are we here now?

Kids with MPS accumulate a buildup of cellular waste in their bodies known as glycosaminoglycans, or GAGS.  Enzyme Replacement Therapy (ERT) helps to break those GAGS up and clear them out of the body.  But sometimes ERT doesn’t prevent the clouding (caused by the GAGS) that takes place in the eyes. And Isaac has always had corneal clouding.  Quite severe, in fact, but it’s been severe since he was very young.  In fact, if you were to look at Isaac’s eyes today, they don’t have much colour – they are grey due to the clouding.

Isaac’s glasses have corrected his vision over the course of the past numbers of years.  The clouding has continued to get worse – to the point where the doctors haven’t been able to see into his eyes for about 2 years.  But still – his vision has been stable.  A big change happened, however, over the past 6 months.  Vision in his left eye has deteriorated considerably – 20/30 down to 20/80, and this is quite concerning.  The result?  A decision to move on with the transplants that we thought were still a number of years off, in the very least.

Doctors are very good at doing this surgery, though I have to admit that I’m still very scared and worried.  But our MPS community is amazing, and many parents are rallying around us with love and support – something I’m truly grateful for.  And Isaac’s friend since childhood, who also suffers from MPS, has had both of her cornea transplanted.  Her family will be a great resource for us as we embark on this latest battle, and she will be able to talk to Isaac about what to expect.

And quite serendipitous – when I arrived home, there was an invitation in my email for me to tour one of the best (if not THE Best) transplant clinic for kids with MPS in the US.  I’m excited to attend and, perhaps, garner a bit of information on the process along the way.  The clinic specializes in bone-marrow transplants and stem-cell transplants, but they be a wealth of information for me for this comparatively smaller and less serious procedure.

Anyhow – I feel a tad better now that I’ve written this and the decision has been made.  It was hard to get the news while I was away.  All I wanted to do was hug my boy, struggle together with my family, and be here for each other when we needed it most.  It was a tough night last night, and a long flight home.  But as soon as I arrived at the school to pick up my boys, they both jumped into my arms and hugged me for what seemed like an eternity.  And Isaac looks good, and strong, and – as he always does – brave.  He can do this, and so can I.

Isaac shared the news with his best friend at school, Amy.  I’m so thankful that he has someone he can trust to talk to, and I’m sure it made him feel better to share the news with his friends.

I’m listening to Danny Michel as I type this blog update – poignant because he’s playing at our upcoming Gala For A Cure.  The song below is called “Just The Way I Am”, and it’s providing the perfect soundtrack for my frame of mind right now as I think about Isaac, his bravery, and the joy I know he takes in having a supportive friend to talk to when things get tough.  It’s below for you to listen to as well – it really is a beautiful (and perfect) song for this posting.

Thanks for letting me ramble on.  I’ll update with more information when I can.  Thanks for always being here for us and our kids.

With Love,


Family fights to get drug for dying 6-year-old son

BY MONIFA THOMAS Staff Reporter February 15, 2014 1:26AM


dt.common.streams.StreamServer.clsShould a dying child receive an unproven experimental drug even if the patient doesn’t fit within a carefully designed clinical trial?

More than 53,000 people who have signed an online petition on behalf of a Mundelein boy say yes, absolutely. But Shire, the Ireland-based pharmaceutical company that owns the drug, says it’s a complicated matter and has refused to make the drug available to the child.

At the heart of this moral and ethical dilemma is 6-year-old Jack Fowler. Jack has a rare disorder called Hunter syndrome, or MPS II, that is expected to kill him because he lacks the enzyme needed to break down cellular waste in his body. Ten to 20 years is the usual life expectancy of someone with the disease, but Jack’s more severe type means he may have less time.

An estimated 2,000 patients — nearly all boys — are affected by the disease worldwide.

The hope is that the drug in question, SHP-609, can for the first time, slow or halt the progression of the disease in the brain. It is going through clinical trials, which means it hasn’t been approved by the Food and Drug Administration yet. The Phase II/III stages are just starting, and FDA approval happens after Phase III.

So Jack’s parents, Jason and Jamie Fowler, have been trying to get a “compassionate use” approval for Jack, which the FDA allows on a case-by-case basis. Clearance for such use means Jack’s case would not influence outcomes in the clinical trial, so an adverse reaction by Jack, for example, would not count against the drug.

For two years, the Fowlers have pleaded with Shire to let their son be part of the clinical trial or get the drug through compassionate use, including during a brief meeting with the company’s CEO, Dr. Flemming Ornskov, in a Chicago airport hotel in January. An advocate for the Fowlers, Andrew McFadyen of The Isaac Foundation, a nonprofit group focused on treatments for rare diseases, started the meeting by stating, “An immoral decision remains immoral if delivered in ones face,” and said that if Shire was still choosing death over saving a life then the meeting was over, according to Jamie Fowler.

Shire “delivered the same grim news, so we upped and walked out,” Jamie Fowler said in an email.

Dr. Barbara K. Burton, Jack’s geneticist at Lurie Children’s Hospital of Chicago and one of the investigators for Shire’s clinical trial, said there’s no evidence one way or another that the drug will save Jack’s life. “It’s conceivable that it would hasten his death,” Burton said, but added, “What I do know is that without [any treatment beyond what he’s getting now], he is definitely going to die.”

For that reason, she supports the Fowlers’ position.

Shire said it has compassion for the Fowler family. Yet “we believe that expanding access to SHP-609 beyond the clinical trial can put the overall development at risk and delay or eliminate the opportunity to make a safe, approved treatment more widely available to the global Hunter syndrome community,” Ornskov said.

An FDA spokeswoman said that of the 940 submitted requests for expanded access for such investigational drugs between October 2011 and September 2012, all but four cases were allowed to proceed.

Unknown adverse events usually do not prevent a compassionate use request from being granted, but that is determined on each case, the FDA added. The agency could not comment specifically on Jack’s case.

Dr. Michael Caplan, pediatrics department chairman at NorthShore University HealthSystem, who is knowledgeable about clinical trials, also did not speak about Jack’s situation, but he said experimental drugs usually aren’t given to patients outside clinical trials until Phase III is complete. Safety is the issue, Caplan said.

Shire didn’t say for sure whether that might be a possibility for Jack after the Phase III is done, but a spokeswoman noted that Shire has done that in the past.

Lewis Smith, an associate vice president of research and a medicine professor at Northwestern University Feinberg School of Medicine, said, “these are moral, ethical dilemmas.”

Companies typically are very concerned about allowing people who are not in the clinical trial access to the drug, because “they’re very concerned about whether that would muddy their results, because this is a rare disease,” Smith said.

Yet, it’s an emotional issue, especially when a child is involved, Smith said.

That’s clear when Jamie Fowler talks about how Jack’s cognitive deterioration, which came with the disease, is slowly taking away his personality. Gone is his ability to say “sis” for his sister, Juliet. Fowler dreads the same fate for “mom.” “It’s heartbreaking,” Fowler said, crying.

They’ve turned to social media, such as Facebook, to try to get Shire to reconsider. An online petition hopes to hit 75,000 signatures by the end of the month; there are more than 50,000 names so far. The family also started doing media interviews to get the word out about their case.

Nothing has worked so far, but the Fowlers said they aren’t stopping until Jack gets the drug to see if it can save his life.

“We won’t sit by and watch our son die,” Jamie said.

Contributing: Chris Fusco


Twitter: @MonifaThomas1

Meeting With Shire – Update

flemmingHi Everyone,

It’s with a heavy heart, and with anger and frustration, that I update you on the meeting that took place this morning between the Fowler family, The Isaac Foundation, and Shire Pharmaceuticals.  The meeting was organized after Shire’s decision to deny Jack Fowler the life saving treatment he immediately requires.

This meeting was supposed to take place at the Fowler home, 45 minutes outside of the city of Chicago.  It was set to take place at 1:30 p.m.  However, a few days before the meeting, Shire’s CEO Flemming Ornskov abruptly changed the location of the meeting to the Chicago airport, and changed the time to an unseemly 7:30 am.  The Fowler family struggled to put child care in place.  And when you are dealing with a special-needs child, that is no easy task.

We made it to the meeting on time, and brought Jack in with us to meet with the Shire team.  Present members for Shire were CEO Flemming Ornskov and Head of Research and Development, Phil Vickers.

The Isaac Foundation began the meeting by thanking Shire for taking the time to meet with the Fowler family.  We expressed that the purpose of the meeting from our point of view was to discover how we could work collaboratively with Shire Pharmaceuticals so that we can find the best treatment options for Jack Fowler and in a timely fashion.  We expressed that if Shire was present to simply reiterate their position from December and deny Jack the treatment he needs, then the meeting would need to come to an abrupt end.  I made very clear to Mr. Ornskov one very simple fact – an immoral decision is still immoral, even if it’s delivered while looking us in the eye and said to our face.

Flemming looked at us and said “We are not changing our decision.  I guess this meeting is over.”  With that, the hopes of the Fowler family were dashed, and our hope to work together with Shire to save this little boy was ended.   We left a large print out of the 32,000 signatures that were signed in the online petition, as well as letters of support from a high percentage of the families currently participating in the clinical trial of the drug that Jack desperately needs.

As we were leaving, Jack walked around the table and gave Flemming a hug.  Close to tears, Jack’s mom said “If he could talk, he would be asking you to Be Brave, like your motto says, and save him.”  It was one of the most heartbreaking moments of my life – watching a sweet little boy who doesn’t have any idea what is going on give a hug to the man who just gave him a certain death sentence.  I told Flemming that I had a hard time understanding how he can go home and look his children in the face after that moment.  He just looked at us and said “It was nice to meet the family.”

The facts of this case remain the same, and are very clear.  Jack Fowler needs access to a drug that will save his life.  He easily qualifies for individual use access through the FDA’s Expanded Use guidelines.  It is those guidelines that decide whether any investigational drug is safe for use outside the bounds of a clinical trial.  The question of whether enough safety data exists to proceed or not doesn’t rest with Shire Pharmaceuticals, nor does it rest with any pharmaceutical undergoing the same process.  It rests with the FDA first and foremost, and it rests with the physician in charge of treating the patient.  All Shire has to do is begin the application process on Jack’s behalf and leave the decision to the FDA.  When I stated this very clearly to Mr. Ornskov and asked if he would submit the application, he flatly refused.

There are things in this world that many people would be better off not knowing.  What lurks in the minds of pharmaceutical decision makers should be at the top of everyone’s list.  To have the ability to provide help and support, to be able to save the life of a precious little boy, and then choose not to, shows a callous disregard toward life.  That callous disregard is a painful reminder of what Big Pharma is after – money, product, fortune, and fame.  Don’t ever be fooled that the patient comes first.  As Flemming so plainly stated before I gave my introduction – “We don’t work with patients.  We don’t work with families.  We are in the business of developing product.”

With that, there’s nothing left to be said.

Our press release goes out early this week.  Stay tuned on how you can help us #SaveJack.  We will never quit when the life of a child hangs in the balance.

Thank you for your ongoing and tremendous support.

With Love,

The Isaac Foundation


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


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.”

© Copyright (c) The Edmonton Journal

Aleena Sadownyk will have treatment covered by Alberta government

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.


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

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.


ERT – Proof of Effectiveness From Around The World

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)

Local man fights for Alberta child’s health

By Jeff Gard, Northumberland Today

Andrew McFadyen is ready for the launch of Project One Million.<br />JEFF GARD/Northumberland Today

Andrew McFadyen is ready for the launch of Project One Million. JEFF GARD/Northumberland TodayPrint

CAMPBELLFORD – For a Campbellford father, this is just another fight for funding, albeit with a different province.

Andrew McFadyen is lobbying Alberta Health to approve life-sustaining treatment for three-year-old Aleena Sadownyk, who was recently diagnosed with the rare enzyme deficiency MPS VI (Maroteaux-Lamy Syndrome). Those affected lack an enzyme in their blood that breaks down cellular waste in the body called glycosaminoglycan (GAG), which builds up in the bones, tissues, organs and muscles. It can lead to devastating symptoms such as heart and airway disease, corneal clouding, stiffening of the joints, shortened stature and premature death.

Treatment — an Enzyme Replacement Therapy called Naglazyme — can range from $300,000 for a small individual to $1 million for a young adult per year. There are currently nine children suffering from MPS VI in Canada and about 1,100 cases worldwide.

McFadyen and his wife Ellen’s nine-year-old son Isaac suffers from MPS VI, but he has been receiving treatment on a weekly basis for seven years at The Hospital for Sick Children in Toronto after he was original denied funding. The McFadyens lobbied and they won.

Since that time, the family has also successfully lobbied for funding for another Ontario boy, Jasper More, in 2011 and a Saskatchewan girl, Violet Revet, in 2012.

Now the focus is on the St. Albert, Alberta toddler Aleena Sadownyk, who was denied funding by Alberta Health through the Alberta Rare Diseases Funding Program. A second application through the Short Term Exceptional Drug Therapy program is currently being reviewed, McFadyen said.

“It’s awful… the fact this has to continue to play out the same way every time a child gets diagnosed in a new province,” McFadyen said, while noting it spotlights Canada’s need for an Orphan Drug Policy. “The little girl’s family has to wait (for the decision) and it’s not right. It’s tough reliving this experience, but you empathize with the family.”

His advocacy work includes checking in with Alberta Health several times per day, ensuring the ministry has received all of the information it needs to make a proper decision and know that precedent has been set. In addition, he works with opposition health critics and prepares news releases.

McFadyen said when a child was diagnosed with MPS VI in Quebec, that province followed precedent already set by Isaac and subsequent cases. He hopes Alberta will do the same.

These funding fights engender “mixed emotions” in McFadyen, who used the words “angry” and “stressful” to describe the process.

“This takes over everything in life but it’s a small sacrifice for a little girl and her family,” McFadyen said. “It’s rewarding when success comes, knowing what it means for the family and the kids.”

FOR IMMEDIATE RELEASE – PC MLA Calls on Government to Fund Treatment for Rare Disease


PC MLA Calls on Government To Fund Treatment For Rare Disease

Life-Sustaining Treatment Required Immediately; Family Continues To Wait For Decision From Alberta Health

Stephen Khan, MLA for St. Albert, released his first public statement today about the case of 3 year-old Aleena Sadownyk. Sadownyk, a St. Albert resident, was recently diagnosed with MPS VI, a rare, progressive, and debilitating disease caused by an enzyme deficiency in the blood. She requires a life-sustaining treatment immediately to prevent irreversable symptoms from progressing. However, treatment cannot begin until Alberta Health renders its decision as to whether they will fund the expensive treatment or not. The treatment is already being funded in numerous provinces throughout the country, including BC, Saskatchewan, Quebec, and Ontario.

Khan released a statement on his Facebook page urging Alberta Health to quickly render “a positive decision for the Sadownyk family.” Khan notes that “Every day is an eternity for this young family, knowing that a treatment for this debilitating disease is at hand.” He acknowledges that other provinces are already funding treatment for the same disease.

Khan’s call for a quick decision from Alberta Health backs up Wildrose Health Critic Heather Forsyth in her own campaign for immediate action from Alberta Health. Forsyth has been publicly advocating on behalf of the Sadownyk family. On Friday, she wrote a letter to Health Minister Fred Horne asking him to “immediately reverse the denial of coverage under the Alberta Rare Diseases Drug Program or at the very least, provide temporary access to Naglazyme by immediately approving the STEDT application.” Forsyth notes in her letter to Horne that “major barriers thrown up in accessing this drug for Aleena” have caused delays that have left Aleena suseptable to “irreversible symptoms” of the very progressive disease.

While the drug in question isn’t yet approved by Health Canada, it’s official recognition as a legal medication for use in this country is imminent, perhaps only weeks away. It is already approved for use in many countries throughout the world, including the United States, the European Union and Austrailia. There are currently 7 children receiving the medication throughout Canada, all funded by provincial health care plans.

Andrew McFadyen, director of The Isaac Foundation, a charity that advocates on behalf of families affected by the disease, has grown frustrated with the delays and indecision. “There is ample evidence in this country and throughout the world as to the merits of this life-sustaining treatment. I’ve seen it personally in my son Isaac, where it has virtually halted the progression of the disease and has given him the opportunity of a normal life. It’s heartbreaking to know that while bureaurocrats are slowly make their way through the STEDT process – with no real indicaton or urgency, the disease is wreaking havoc on Aleena’s body. We know this works. We know other provinces already fund this treatment because they also know it works. Why Alberta Health is making this family wait to learn the fate of their daughter is beyond comprehension and it’s downright cruel.”

McFadyen adds that he is hopeful the public statement from Khan will prompt Minister Horne to take immediate action. “The Provincial government has the opportunity to do the right thing and ensure that Aleena receives the treatment she so desperately needs. It’s the role of government to protect and ensure fair and equitable access to Health Care for all Canadians, regardless of which Province they happen to live in. The Isaac Foundation joins Mr. Khan in calling on this government to take action and save the life of this child. She can’t afford to wait.”

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

Stephen Khan’s full statement can be found here.

Heather Forsyth’s full letter to Minister Horne can be found here.

Toddler’s family seeks relief from rare disease

St. Albert child awaits approval of costly treatment

By: Stu Salkeld

|  Posted: Tuesday, Aug 06, 2013 12:15 pm

RARE CONDITION – Three-year-old Aleena Sadownyk of St. Albert is battling MPS VI, an extremely rare disease that governments seem to be slow to address.

RARE CONDITION – Three-year-old Aleena Sadownyk of St. Albert is battling MPS VI, an extremely rare disease that governments seem to be slow to address.
Supplied photo

The MLA for St. Albert said a very young member of his constituency is front and centre in the government’s, and public’s, eye.

Stephen Khan said he spent the weekend talking to people involved in the situation facing three-year-old Aleena Sadownyk. The three-year-old St. Albert resident has been diagnosed with the extremely rare Maroteaux-Lamy Syndrome, also called MPS VI.

Sufferers of MPS VI lack an enzyme in their blood that breaks down cellular waste in the body called glycosaminoglycan (GAG). These GAGs build up in the bones, tissues, organs, and muscles of affected individuals and lead to many devastating symptoms including heart and airway disease, corneal clouding, stiffening of the joints, shortened stature, and premature death. To date, there are nine children suffering from the disease in Canada and roughly 1,100 worldwide.

“This adorable little girl, there is a drug that helps treat the deficiency that she has,” said Khan from his home Monday.

“The catch is, the drug has not been approved for use in Canada.”

MPS VI is rare, and the treatment required to keep Aleena healthy is also rare and quite expensive, ranging from $300,000 to $1 million per year, but urgently needed to keep her situation from worsening. Naglazyme is the only treatment known for the condition, and Alberta Health Services has already denied funding under the Alberta Rare Diseases Funding Program, but Khan said other avenues are opening up.

“The family is under unimaginable strain and stress,” said Khan. He said his St. Albert office was notified July 4 about Aleena and her story was quickly forwarded to the minister of Health. From there, the minister’s office is to forward it to AHS.

He said, although Naglazyme is not approved for use in Canada, some provinces have made exceptions. Khan said he’s been talking with the ministry and also with representatives of the Sadownyk family to get the ball rolling more quickly. Khan said he wanted to meet directly with the Sadownyk family, but was unable to. However, the minister’s office stepped up and has been handling the situation.

“We’re hoping to get access as soon as possible because every day is an eternity for the family,” said Khan.


Andrew McFadyen, whose son Isaac lives with MPS VI, lobbied the Ontario government to cover Naglazyme and has been instrumental in helping the Sadownyk family.

“I’ve just become more and more frustrated with what’s been transpiring,” said McFayden Tuesday.

“We’re essentially waiting on the province to make a decision and that’s why it’s important we do get an expedited decision on this matter. Every day that goes by is another day that she’s not receiving the therapy that she needs.

“We’re reaffirming our call for an immediate decision on this so that the family can know what the fate of their daughter is. The future of your child sits on the desk of a few bureaucrats that haven’t had the opportunity to work through a process they haven’t put in place in an expedited fashion and we’re just calling on them to do the right thing.”

McFayden knows this disease well as it afflicted his son. He knows what Aleena is facing.

“Already at three-and-a-half years old she’s suffering from a lot of the irreversible symptoms of this disease, her joints are starting to stiffen up, her hands are starting to claw up, she can’t raise her hands above her head,” said McFayden.

“Her energy level is severely, severely deteriorating, her internal organs are enlarged, there’s already evidence of buildup on the bones. And those are only the things that are prevalent. We just don’t know what sort of symptoms are just waiting on the doorstep to appear. None of these symptoms can be reversed, but as soon as treatment starts we hope that the majority of these symptoms will stop appearing.

“Her lifespan will be severely shortened without treatment.”

Khan said the issue is bringing people together, even in the legislature, as all parties seem to want to see an approval made for the treatment to help Aleena. “I think everybody in Alberta can be supportive of the Sadownyk family and their cause.”

Khan said everyone is waiting for the provincial committee that oversees the Short Term Exceptional Drug Therapy program to meet and make a decision. He said the federal government is also working on this issue through the Special Access Program, which already approved Naglazyme for MPS VI sufferers in Ontario, B.C., Saskatchewan, and Quebec. Naglazyme is already approved in other countries around the world, including the United States and members of the European Union.

Khan said no one knows what the committee is going to do yet, but he is optimistic.

“From the time our office first contacted the minister’s office, we’ve been getting regular updates,” said Khan.

“The last update we got was very positive, very hopeful. The quicker we can get a decision, the happier everyone is going to be.”