21 Mar 2014

Sticky Post By mcfadyena Posted in Blog Postings Permalink

Research Grants

Sticky Post By mcfadyena On 21 March, 2014

The Isaac Foundation is proud to announce that our application for our 2014 Research Grants is now available. $100,000 is available from our general MPS Research Fund, and another $50,000 grant is available from the MPS II Research Fund.

Application deadline is May 1. A decision will be reached by June 15, with funds dispersed on or before June 31, 2014.

Our Grant Application Form Can Be Downloaded Here – RFA 2014 – MPS VI and MPS II

If you have any questions regarding the process, please email Ellen Buck-McFadyen – ellen@theisaacfoundation.com

05 Mar 2014

Sticky Post By mcfadyena Posted in Blog Postings Permalink

2014 Research Grants

Sticky Post By mcfadyena On 5 March, 2014

The Isaac Foundation is pleased to announce two research grant opportunities with a call for a $100,000 grant through our general MPS Fund and a call for $50,000 from our MPS II Research Fund.

Last month also saw us renew a research project for $50,000, bringing our total research grants from The Isaac Foundation early 2014 to $200,000!

We continue to be proud of the work that we do in the MPS Community. To date, we are well over 1/2 million dollars granted to research projects throughout the world and we will continue to grow and support innovative research until a cure for MPS is found.

Calls for Applications to these grants will be issued soon.

We are also very pleased to announce that Dr. Barbara Burton and Dr. Paul Harmatz, both world-renowned MPS specialist from the United States, have joined our Medical Advisory panel to review and advise on research applications as they come in. Dr. Burton and Dr. Harmatz join Dr. Julian Raiman and Dr. Joe Clarke to round out our 2014 Medical Advisory Panel.

More details to follow soon. Thanks for you continued support as we seek to find a cure for our kids!

09 Nov 2013

Sticky Post By mcfadyena Posted in Blog Postings Permalink

The Pass

Sticky Post By mcfadyena On 9 November, 2013

I just had a touching moment with Isaac, another one of those beautiful moments when I marvel at how incredibly insightful and thoughtful he is.

Everyone who knows Isaac knows that he loves music. John’s his favourite, followed by Danny Michel and Adele. But he loves all music, and listens intently to the lyrics, often wondering about their meaning. He gets emotional, sometimes, at the sad songs, and he rocks out to the fun ones.

It’s easy for him, too, because we always have music on in the house. Or in the car. Or garage, or outside. Music is everywhere in our life, which is probably why we’ve made it a central component of our Gala For A Cure every year.

A few minutes ago, Isaac popped over and asked “Dad, which song was it that made you want to start The Isaac Foundation?” I was surprised – I haven’t told too many people when and how The Isaac Foundation came into being. But I have told those close to me – probably in one of my many emotional or reflective or “softy” moments. And I should remember that Isaac sees and hears EVERYTHING. It should come as no surprise that he’s heard me tell the story before. But he’s kept it inside; pondering, perhaps, how a song could start someone on the journey we’ve found ourselves on.

I smiled and told him I’d put it on for him. We listened, but he wanted to know EXACTLY what about the song made me want to start our charity, and our search for a cure. We skipped back to the start of the song and listened closely together, reading the lyrics on the screen at the same time. I watched him tear up as he read, and I described the moments in the song that woke me up out of my grieving, the message that got me the hell out of bed and on my way to finding a cure

Whenever I put that song on, I’m always transported back to those days after diagnosis – the awful, dark days when I couldn’t get out of bed. The weeks that I couldn’t eat (I lost 40 pounds quickly). The haunting nightmares I had, the dark, dark places my mind took me to. I remember driving through a dark February night, watching the stars, and trying to escape with some music. And I remember this song coming on and knocking some sense into me. I decided on that night that I wasn’t going to lay around and feel sorry for myself. My son, after all, wasn’t going to get better by me sitting around and waiting for the disease to take hold in him. Simply put, that February night changed my life.

Going back in time to that night always brings such mixed emotion, and it felt a bit surreal sitting beside the boy I’ve worked so hard to save and reliving it.

Isaac and I finished listening to the song together and we sat quietly for a long moment. He looked up at me and said “Dad. Would I be dead right now if you didn’t hear that song?” My heart aching, I told him no – I would have woken up sooner or later, and we would have figured this out either way. But I’m glad I heard that song that night. It’s provided me a turning point I can always look back on, and a reminder to always keep going forward, no matter what (or who) gets in the way.

There’s still many nights I want to cry out “Christ, what have you done?” just like in the song. More nights than I know what to do with. But there’s also many more nights when I remember the Oscar Wilde quote about all of us being stuck in the gutter, and only some of us turning to look at the stars (portrayed in my inspiration song, too).

My boy never ceases to amaze me. He is insightful beyond his years. And as we head into our Gala next weekend, and start our journey with our new Non-Profit (announcement soon!), I’m glad he waited until today to ask me about my inspiration for The Isaac Foundation. I needed to slow down and remember WHY we’re doing what we’re doing, and I’m glad I did.

Song and lyrics are below. See many of you next week in person or via our Live Stream from the Gala.

Thanks, as always, for your support.

With Love,

A.

“The Pass”

Proud swagger out of the school yard
Waiting for the world’s applause
Rebel without a conscience
Martyr without a causeStatic on your frequency
Electrical storm in your veins
Raging at unreachable glory
Straining at invisible chainsAnd now you’re trembling on a rocky ledge
Staring down into a heartless sea
Can’t face life on a razor’s edge
Nothing’s what you thought it would be

All of us get lost in the darkness
Dreamers learn to steer by the stars
All of us do time in the gutter
Dreamers turn to look at the cars
Turn around and turn around and turn around
Turn around and walk the razor’s edge
Don’t turn your back
And slam the door on me

It’s not as if this barricade
Blocks the only road
It’s not as if you’re all alone
In wanting to explode

Someone set a bad example
Made surrender seem all right
The act of a noble warrior
Who lost the will to fight

And now you’re trembling on a rocky ledge
Staring down into a heartless sea
Done with life on a razor’s edge
Nothing’s what you thought it would be

No hero in your tragedy
No daring in your escape
No salutes for your surrender
Nothing noble in your fate
Christ, what have you done?

06 Sep 2013

Sticky Post By mcfadyena Posted in Blog Postings Permalink

J&J – The Evolution of a Lovely Relationship

Sticky Post By mcfadyena On 6 September, 2013

Hi All,

I’ve promised myself that I would post new blogs more often that I’ve found time for in the past. It’s been another crazy year, for sure, but if I’m confident I can find 5 occasional minutes to blog now and then!

Just wanted to post a quick update while it was first and foremost on my mind. I spoke with Dr. Ray at JnJ this evening and wanted to note how impressed I continue to be with the team at Janssen Pharmaceuticals and, as we’ve always referred to them as, Johnson and Johnson. Or relationship started off, as you may remember, quite rocky. The Isaac Foundation, along with our partner organizations, had long lobbied the company to commit to research of a highly promising drug (Elmiron) that the company makes and markets. After repeated no answers, and constant put-offs, we put our advocacy efforts on behalf of our kids in high gear. After months of hard work and patience, we finally had the opportunity to present our case to some decision makers within the company. From that moment forward, things changed, as did our view on the company.

Once the potential of Elmiron was recognized by JnJ, the company acted quickly to repair any damage that was done with our organization but, more importantly, with the MPS community as a whole. They committed to further study of their product, brought some of the most incredible MPS researchers and physicians together for a collaborative planning and educational session, and took a keen interest in our children. They put a team together that dedicated themselves to learning about MPS and the struggles families dealing with this devastating disease face, something that I was incredibly impressed with, and continue to be proud of.

What impressed me most was that they didn’t take a serious look at this drug for financial reasons – JnJ stood to lose a lot of money during the entire endeavour. They chose to look into this product because the data was compelling, and the impact it could have on saving our children was undeniable. We often took aim at the JnJ Credo Values – values the company promoted and prided themselves on. Once Dr. Amrit Ray took over the Elmiron/MPS file, that credo was put into action and the company showed me why they put such stock in their credo values. In short – they undertook this project because it was going to positively impact the lives of our kids, and they felt it was the right thing to do.

Unfortunately, JnJ was prevented from further study of Elmiron due to legal issues relating to patents, along with Mt. Sinai’s deal with another drug company. However, I’ve been fortunate to continue working with Dr. Ray and have had the opportunity to touch base with him on a regular basis. He and his team continue to learn about MPS and our children, and I’m incredibly touched at how caring and compassionate he and his team have been.

I spoke with Dr. Ray this evening. And like every time we chat, I was struck by how empathetic he is as it relates to our kids. Johnson and Johnson is lucky to have him at the helm, and we at The Isaac Foundation are lucky that our relationship has evolved over time to find us at the place we are today.

Thanks, as always, for the support you provide us.

With Love,

A.

06 Sep 2013

Sticky Post By mcfadyena Posted in Blog Postings Permalink

J&J – The Evolution of a Lovely Relationship

Sticky Post By mcfadyena On 6 September, 2013

Hi All,

I’ve promised myself that I would post new blogs more often that I’ve found time for in the past. It’s been another crazy year, for sure, but if I’m confident I can find 5 occasional minutes to blog now and then!

Just wanted to post a quick update while it was first and foremost on my mind. I spoke with Dr. Ray at JnJ this evening and wanted to note how impressed I continue to be with the team at Janssen Pharmaceuticals and, as we’ve always referred to them as, Johnson and Johnson. Or relationship started off, as you may remember, quite rocky. The Isaac Foundation, along with our partner organizations, had long lobbied the company to commit to research of a highly promising drug (Elmiron) that the company makes and markets. After repeated no answers, and constant put-offs, we put our advocacy efforts on behalf of our kids in high gear. After months of hard work and patience, we finally had the opportunity to present our case to some decision makers within the company. From that moment forward, things changed, as did our view on the company.

Once the potential of Elmiron was recognized by JnJ, the company acted quickly to repair any damage that was done with our organization but, more importantly, with the MPS community as a whole. They committed to further study of their product, brought some of the most incredible MPS researchers and physicians together for a collaborative planning and educational session, and took a keen interest in our children. They put a team together that dedicated themselves to learning about MPS and the struggles families dealing with this devastating disease face, something that I was incredibly impressed with, and continue to be proud of.

What impressed me most was that they didn’t take a serious look at this drug for financial reasons – JnJ stood to lose a lot of money during the entire endeavour. They chose to look into this product because the data was compelling, and the impact it could have on saving our children was undeniable. We often took aim at the JnJ Credo Values – values the company promoted and prided themselves on. Once Dr. Amrit Ray took over the Elmiron/MPS file, that credo was put into action and the company showed me why they put such stock in their credo values. In short – they undertook this project because it was going to positively impact the lives of our kids, and they felt it was the right thing to do.

Unfortunately, JnJ was prevented from further study of Elmiron due to legal issues relating to patents, along with Mt. Sinai’s deal with another drug company. However, I’ve been fortunate to continue working with Dr. Ray and have had the opportunity to touch base with him on a regular basis. He and his team continue to learn about MPS and our children, and I’m incredibly touched at how caring and compassionate he and his team have been.

I spoke with Dr. Ray this evening. And like every time we chat, I was struck by how empathetic he is as it relates to our kids. Johnson and Johnson is lucky to have him at the helm, and we at The Isaac Foundation are lucky that our relationship has evolved over time to find us at the place we are today.

Thanks, as always, for the support you provide us.

With Love,

A.

05 Sep 2013

Sticky Post By mcfadyena Posted in Blog Postings Permalink

Thank You RBC and Arthur Lions Club!

Sticky Post By mcfadyena On 5 September, 2013

The 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 mcfadyena Posted in Advocacy, Fight For Aleena, Media, Newspaper Permalink

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

Sticky Post By mcfadyena 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

12 Aug 2013

Sticky Post By mcfadyena Posted in Advocacy, Fight For Aleena, Media, Newspaper Permalink

Aleena Sadownyk will have treatment covered by Alberta government

Sticky Post By mcfadyena On 12 August, 2013

Little girl with rare disease had been rejected for funding previously

Beacon Reporter AB | August 12, 2013

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 mcfadyena 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 mcfadyena 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

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 mcfadyena Posted in Advocacy, Blog Postings, Fight For Aleena Permalink

ERT – Proof of Effectiveness From Around The World

Sticky Post By mcfadyena On 11 August, 2013

The 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)

08 Aug 2013

Sticky Post By mcfadyena Posted in Advocacy, Fight For Aleena, Media, Newspaper Permalink

Editorial: Life-saving treatment a worthwhile investment

Sticky Post By mcfadyena On 8 August, 2013

August 8, 2013 by editor

What’s good for the goose, they say, is good for the gander.

That’s all fine and dandy for birds who fly south in the winter, but is what’s good for the Ontarian good for the Albertan? What about what’s good for the Quebecer?

When it comes to treatment for the life-threatening medical condition known as MPS VI, it certainly is.

This extremely rare condition — there are currently only nine cases reported in Canada, and 1,100 worldwide — came into the limelight earlier this week when we found out that a three-year-old girl from

St. Albert, Aleena Sadownyk, was diagnosed with MPS VI earlier this year and that her family is wrestling with the Alberta government to have the treatment that could save her life funded through health care programs.

The drug she needs has not been fully approved by Health Canada, meaning that the Alberta government is dragging its feet by conducting its own clinical review. But similar reviews have already been conducted by governments in Ontario, Quebec, British Columbia and Saskatchewan, where funding for MPS VI treatment is already in place, and there is very little chance Alberta is going to find anything different. So why not get the funding in place already? There is ample evidence to prove that it works and is a worthwhile investment, even at $300,000 to $1 million per year.

And kudos to St. Albert MLA Stephen Khan for speaking out on Tuesday and calling for the treatment to be funded sooner rather than later. It’s refreshing to hear an MLA remember that his first job is to represent and advocate for the people of his riding, rather than to simply toe the Progressive Conservative party line.

Every day that passes puts Aleena Sadownyk’s young life further in jeopardy. The least the Alberta government — and especially Health Minister Fred Horne — could do is stop dragging its feet and take action.

— GLENN COOK, St. Albert Leader