Project One Million

10 Feb 2013
Sticky Post By Posted in Advocacy, Media, Newspaper Permalink

The Agonizing Fight for Isaac: The Hope and the Hurdles

Sticky Post By On 10 February, 2013

isaac10lf4Andrew McFadyen lives with the agony of knowing that a ground-breaking treatment for his son’s debilitating disease may be just out of reach.

His son Isaac was born with MPS VI, an extremely rare metabolic disorder. At age 2, Isaac was featured in a Globe and Mail series that led to the Ontario government’s decision to fund Naglazyme, the only available treatment for his disease, which costs an annual $300,000 to $1-million a patient.

But despite receiving weekly injections of the drug, Isaac, now 8, is far from leading a normal life. He is more than a head shorter than other boys his age, and has stopped growing. His hands are clawing up and he is losing mobility in his spine, limbs and joints. He will soon be a candidate for corneal transplants and is at high risk for heart disease and a shortened life.

There is hope. Researchers at Mount Sinai Hospital in New York have come up with an experimental treatment for MPS VI. In a study published January in the online journal PLoS One, rats with the disease showed remarkable improvement in mobility and other indicators after taking pentosan polysulfate, an anti-inflammatory drug that costs about $7 a pill.

McFadyen helped fund the study as head of the Isaac Foundation, an organization he runs in addition to his job as a schoolteacher in Kingston, Ont. “We fully believe this treatment will work wonders,” he says.

But in the world of rare diseases, the battles never end.

Experimental treatments that work in rats are often ineffective in humans. Researchers do not know whether the anti-inflammatory drug would interfere with Naglazyme in children who depend on it to stay alive. Testing the drug in children with MPS VI would require an adequate number of patients to convince regulators that the treatment is effective, but only nine children in Canada have Isaac’s disease. To recruit enough patients, a human trial would require international co-operation and approval from a variety of health agencies and ethics boards.

The biggest hurdle, however, would be to convince a pharmaceutical company to make a multimillion-dollar investment in research that may have meagre financial return.

Nevertheless, McFadyen is convinced the drug-approval process can be streamlined if he can just get the pharmaceutical industry on board. He notes that pentosan polysulfate has already been proven safe in humans. Johnson & Johnson holds the patent for the drug under the brand name Elmiron, which was approved decades ago as a treatment for interstitial cystitis (an inflammation of the bladder).

McFadyen has spent the past six months lobbying Johnson & Johnson to fund clinical trials in patients with MPS VI. So far, the company has made no commitments. “They promote themselves as being humanitarian driven,” McFadyen says, “and here they are, sitting on a product that is having dramatic, earth-shattering results in the lab.”

Julian Raiman, a specialist in MPS diseases at the Hospital for Sick Children in Toronto, confirms the findings from the rat studies are promising.

He says the current treatment, Naglazyme (and other forms of enzyme replacement therapy), may decrease the rate of decline in many MPS patients but does not treat the inflammation of the musculoskeletal system associated with MPS disorders. The rat study suggests the anti-inflammatory drug may prove effective for various forms of MPS and other lysosomal storage diseases. The question, Raiman points out, is “can that be mirrored in humans?”

Only clinical trials can tell.

But Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, says she doubts Johnson & Johnson “will ever put up money for this trial.”

Later this year, Canada will adopt a regulatory framework to spur new treatments for orphan diseases, she notes. But even so, it would take a multimillion-dollar investment and at least six years to have Elmiron approved for a new indication, she says. Meanwhile, the company’s patent on the drug is running out.

Johnson & Johnson declined an interview request but provided a statement: “A senior staff member in our research-and-development organization has assembled a team to fully evaluate this situation and determine if and how we can be helpful,” it says in part. The statement adds, “Unfortunately, we are not able to help in every situation.”

The company’s annual earnings dropped 27 per cent in 2011 to $9.7-billion, but 2012 saw that number climb to $10.9-billion.

Deb Purcell, whose eight-year-old son Trey has MPS II, says it would “unethical” for Johnson & Johnson not to fund a clinical trial. Purcell, who lives in Vancouver, says she has heard parents in the MPS community considering giving their children Elmiron despite the unknown risks. “There are a lot of desperate families out there.”

McFadyen says he fears that if Johnson & Johnson does not test Elmiron as a potential treatment for MPS, competing drug companies will reformulate the inexpensive oral medication as an injection drug that will hit the market many years from now, at an exorbitant price. It wouldn’t be the first time the pharmaceutical industry has profited from rare diseases, he adds.

“Everyone seems to forget that the lives of kids are hanging in the balance,” he says, “and no dollars can ever bring them back.”

A primer on MPS disorders

MPS VI is an extremely rare genetic disorder that affects an estimated 1,100 people in developed countries worldwide. People born with MPS VI (which stands for mucopolysaccharidosis VI) tend to have stunted growth, irregular facial features, restricted movement and breathing problems. Many require heart-valve surgery.

MPS VI shares similarities with other MPS disorders. MPS patients lack a specific enzyme needed to break down long chains of sugar carbohydrates, which build up in the body’s cells and damage multiple organs. One in 25,000 babies is born with an MPS disease.

The MPS disorders, in turn, are part of a larger group of nearly 50 lysosomal storage disorders. Together, LSDs are estimated to affect about 1 in 7,700 births.

 

ADRIANA BARTON

The Globe and Mail

19 Nov 2012
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War of My Life – A Long Awaited Update

Sticky Post By On 19 November, 2012

Hi Everyone,

Thanks for the patience.  I know there have been many of you wondering what’s been going on with our latest project, #ProjectOneMillion, and if things are progressing.

Since we launched our project, a lot of developments have happened, and things are moving forward (although not at the pace with which we want or expect).  So…I’ve decided to take a minute to give you a rundown about where we’ve been, where we are, and where we’re going!

Initial respose to our #ProjectOneMillion video (http://www.youtube.com/watch?v=iPhisB8_-wM) was incredible.  We quickly raced up the charts on YouTube and had 5000 views.  This was before the push actually began for us to get it trending!  As you know, the drug company that we need to sign on board with us, Johnson and Johnson, the maker of the drug that or children desperately need, was initially hesitant to help us complete the clinical trial for our kids.  After the video launched, I reached out to J and J and began discussions to see how we could obtain their support moving forward.

Well, as things tend to do in the pharmaceutical world, things progressed – but progressed slowly.  J and J agreed to have a teleconference with our Researcher and their medical advisory team.  Our lead physician was also scheduled to be on board.  However, due to numerous scheduling conflicts (and other unmentionable delays!), the teleconference got bumped from September, to early October, to late October, to today.

In the meantime, two other major pharmaceutical companies began a push to develop their own version of the drug that our kids need.  On the surface, this seems like cause for excitement.  However, it’s the farthest thing from exciting.  These companies want to take the current form of the drug and make it into a different form, something that is not in the best interest of our kids.  In addition, because they are creating a “new” treatment, it would have to be approved by the FDA (the drug from J and J is already approved).  As well, this “new” drug would have to go through the development stage, the early clinical trial stage, the late clinical trial stages, etc.  This is a very long process, and it’s time that our kids don’t have.  Finally, because this “new” drug would be considered a treatment for a rare disease, the drug company would gain market exclusivity on the drug for 7-10 years.  This means they can also set whatever price point they want – and this price point would be sure to be ridiculously high (current prices for rare disease treatments rank as some of the most expensive drugs in the world).  Again, this is not in the best interest of our children and will be a barrier to a great many being able to even attain it.  In the end, if one of these two drug companies are successful in creating their own drug, it could be upwards of 6 years before we see it in our children, and it will be incredibly expensive (I gauge these companies could end up making a billion dollars on the backs of our very ill children).

This leads us to today and our teleconference with J and J.  While I cannot share any details, I do want to impress on all of you that are interested, our very real determination to ensure that the drug currently being made and marketed by J and J ends up in our children in very short order, and our very real battle to prevent these other two companies from marketing their own drug.

Why is J and J the best option?  First, it’s already available and already FDA approved for use (and approved for use here in Canada as well).  This availability is paramount to ensure our kids can start their treatment early.  Second – it’s in a form that will allow our children to easly access it’s benefits (i.e – not a needle each and every day).  Third, it’s affordable.  So affordable that drug plans will not even question the cost to them on a yearly basis.

To be clear, we have the team in place to begin a trial immediately.  We have the data (which is incredible), we have the lead physician to run the trial, we have the location and are working on the parameters.  All we need is the ability to cover the cost – 1 million dollars.  My hope is that J and J can come through with help, and you’ve all done so very well in helping us so far.  But we have to get going soon, or one of those 2 drug companies will get their own form of the drug production under way, and our kids will continue to suffer needlessly as they wait for another million dollar treatment to become available to them.

So…there you have it.  I promise, I haven’t been sitting idle since the launch of our Project.  I’ve put off media interviews and my media release, but they are hounding me to chat with them because this is such a big story.  We won’t put them off much longer.  And when I chat with them, I hope I have good news to pass along to them 😉

My hope is that J and J will understand what incredibly good things they can be doing for our childern suffering from rare diseases throughout the world.  My hope is that they will understand the need for their product to go into immediate trial in our kids, and that they will work to block the other two companies trying to make hundreds of millions of dollars off of our kids.

And my hope is that you’ll continue to help us along the way.  There’s work yet to be done, and our kids will need you.

Till I can update again, thanks for your continued support.

With Love,

The Isaac Foundation

05 Oct 2012
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Thankful…

Sticky Post By On 5 October, 2012

Driving the hour and a half to school this morning, I put my iPod on random and just let my music play whatever it wanted.  It was lovely being surprised about what song was coming on next and made for a relaxing trip on a dreary Friday morning in Ontario.  A lot of what came on was upbeat and fun and I enjoyed my journey.  The last song that came on before I arrived in Kingston wasn’t a song at all – it was the sound of my own voice calling out from the speakers and announcing that I had Isaac and Gabriel with me for a bit of fun with the microphone.

My face immediately lit up – I’d forgotten that we used to play around recording ourselves when the boys were little.  Listening to them made my morning – my week, really – and took a bit of the stress I’ve been feeling lately down a few levels.

2012 has been a hard year for us and I feel like we’ve been treading water, just trying to stay above the surface long enough to survive.  Isaac’s health challenges have taken a lot out of us, fighting for Violet was exhausting, and the unknowns that are left with Project One Million is both stressful and Hopeful at the same time.  And just when I’ve been feeling like the tank was running on empty, the voices of my beautiful boys came singing through the speakers in my car.

Our Gala takes place in a week – and our teleconference with Johnson and Johnson takes place 2 days before.  We’ve been struggling to get there – weighed down by everything that’s on our plate.  Incredibly stressful doesn’t begin to describe the process involved with Project One Million – we think about it every moment of every day.  What happens if we don’t succeed?  What happens if we do?  Listening to my boys this morning gave me that moment of clarity I’ve needed going into this final stretch.  This is exactly what Project One Million is all about – giving my son the shot at life he deserves, and giving everyone else suffering from this disease that same chance.

Isaac singing into that microphone this morning showed how innocent, how loving, how truly incredible he really is.  He’s a little boy fighting a battle that we can’t imagine, and we have to help him win it – whatever the cost.

As we head into our Thanksgiving weekend, I’m reminded how truly thankful I am to have Isaac and Gabriel, and my lovely wife Ellen, in my life.  I didn’t really need to hear that recording this morning to remind me, but it was nice to have those voices nudge things back in order for me.  Stress?  We can do this.  Johnson and Johnson next week?  We can make it happen.  And our Gala?  It will be a celebration worth remembering, to be sure!

Project One Million keeps going.  For Isaac.  For Jasper.  For Violet.  For Trey and Case and Justin. For all of those kids out there suffering from this disease – we’re going to fight and win.

Enjoy listening to this gem I found this morning.  I hope it gives you as much pause as it did me, and I hope it gives you a moment to find some perspective in life.  Listen Here! – Gabriel and Isaac – November 19 2007

Happy Thanksgiving.

With Love,

A.

 

03 Oct 2012
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Trent Hills Couple Set $1 Million Goal To Find Cure For Disease

Sticky Post By On 3 October, 2012

Son Isaac has extremely rare disease

Northumberland News

TRENT HILLS — Andrew and Ellen McFadyen are prepared to take on big pharma to raise $1 million for a clinical trial of a drug that could prove life-changing for their oldest son.

Isaac, eight, has an extremely rare disease, MPS VI, which requires that he receive treatment for an enzyme deficiency one day a week at Toronto’s SickKids hospital.

The enzyme replacement therapy he began five years ago has slowed down the progress of the disease, which stunts growth, stiffens joints, affects the heart and airways, and shortens lifespan.

There is no cure, but the McFadyens believe one is close at hand. Proving it, however, will take $1 million. Their faith is based on “positive results” from ground-breaking research done in the U.S. that was funded by The Isaac Foundation.

The Meyersburg couple established the foundation in 2005 to raise money for research into innovative treatments and potential cures for MPS VI and other MPS diseases, and to increase public awareness about the disorders.

“One of the projects we’ve been funding for the last three years out of New York City is reversing all of the symptoms of this disease in lab animals; it’s as close to a cure as we’ve ever been,” Mr. McFadyen said. “Now we just need to get it into human clinical trial and ensure the safety is there for our children, which we’re very, very confident it is.”

The drug under study is an oral anti-inflammatory that is already used to treat bladder inflammation and has been approved by Health Canada and the Food and Drug Administration in the U.S.

“We’re incredibly hopeful that this is a turning point in the lives of all kids suffering from MPS,” Mr. McFadyen said. “It’s not a huge trial that needs to be done; probably it would take nine months to have good data.”

To raise the capital required, he conceived Project One Million, which is “very ambitious” but it’s a goal he’s confident can be achieved.

“We’ve set our sights high and we’re going to get it,” he said.

He’s pinning his hopes on getting the American pharmaceutical company that manufactures the anti-inflammatory medication to underwrite the cost of the clinical trial. So far it has refused, but that’s not stopping Mr. McFadyen, whose extensive lobbying persuaded the provincial government several years ago to agree to pay for Isaac’s enzyme replacement therapy, which costs about $400,000 annually for the medication.

In the last two years he was also successful in helping to persuade the Ontario and Saskatchewan governments to extend the same benefit to two other children with MPS VI.

“This product has potential to save thousands and thousands of children’s lives (around the world) and I’m not going to rest until they ensure that product gets effectively used for those kids,” Mr. McFadyen said.

“They know we’re fighting against time,” he said. “I will not sit idly by.”

A teleconference involving researchers at the pharmaceutical company and those Mr. McFadyen has been working with is scheduled for Oct. 11.

“They’ve made no promises, but it’s a start,” he said.

 

SIDEBAR

Cobourg gala to raise money to find a cure

TRENT HILLS – Project One Million is more than about raising a huge amount of capital, “it’s a million conversations, it’s a million people talking about rare diseases,” and making them aware “they can make a difference,” Andrew McFadyen said.One way they can show their support is to attend the third annual Gala for a Cure, which includes dinner, wine tasting, a silent auction, and entertainment by Juno Award-winning musician Ron Sexsmith. The fundraiser will take place Oct. 13 at the Best Western Convention Centre in Cobourg.

Eight-year-old Isaac McFadyen, who has been taking piano lessons for a year, will play a number and present a Lifetime Impact Achievement award to Dr. Lilla Simonaro, whose research has fuelled optimism a cure has been found.

Tickets are $100 per person (a charitable tax receipt will be written for $60). They can be purchased online atwww.theisaacfoundation.com or by phoning 613-328-9136.

23 Aug 2012
Sticky Post By Posted in Media, Newspaper Permalink

Project One Million Launches

Sticky Post By On 23 August, 2012

1344538301760_ORIGINALThe following is the third and final part of an interview with Andrew McFadyen, the father of eight-year-old Isaac who has the rare disease MPS VI. Wednesday’s story featured Isaac’s continued battle with the disease. Thursday’s story focuses on the McFadyen family’s advocacy for other children diagnosed with the disease. Today’s story announces their lofty new fundraising project.

CAMPBELLFORD — Today is the launch of a million-dollar project for The Isaac Foundation.

That is what this story is supposed to be about.

First, though, it’s worth updating Thursday’s story which talked about the McFadyen family from Campbellford and their advocacy for provincial funding for life-sustaining treatment for children who suffer from the rare disease MPS VI.

Andrew and Ellen McFadyen’s eight-year-old son Isaac has the disease, which is caused by an enzyme deficiency. As previously reported, there is a treatment — Enzyme Replacement Therapy — available through the country’s Special Access Program, but it can cost up to a million dollars per year and the respective provincial governments must agree to pay for it.

When Isaac was first diagnosed years ago, the McFadyens were initially turned down, but the decision was reversed after a successful lobby effort. Last year, the Darren and Pam More from Palmerston had the same problem with their two-year-old son Jasper. With help from the McFadyens and their Isaac Foundation the Mores also eventually got funding.

This past week, the McFadyens have been advocating for Violet Revet, a three-year-old girl from Saskatchewan who was diagnosed with MPS VI seven months ago. Her parents — Jennifer Yanke and Larry Revet — had been waiting all those months to hear whether their daughter would be approved, or denied, for funding. They turned to The Isaac Foundation for help and McFayden advocated behind the scenes while public pressure through social media to the Saskatchewan government also aided the lobby effort.

Wednesday night it was announced that Violet has been approved for the funding and she will get the treatment she needs.

“I was unbelievably overcome with emotion when I got that notification that Violet was going to get covered,” Andrew McFadyen said yesterday. “It’s bittersweet to have to battle, but then to win that battle again on behalf of a family, on behalf of a child is really special to us, probably because we know how important it is for these kids to have this treatment. Being down this road for six years, I know what it means for Violet and her family.”

McFadyen expressed gratitude to those who made their voices heard by the Saskatchewan government.

“It’s one thing for one person or one family or one tiny organization to be calling governments into account. Governments can weather that storm, they can weather the storm of me calling them every day and advocating and telling them all of the different things that I want them to do on behalf of children,” McFadyen said. “They can get through that, but once there’s momentum behind it, once people are sharing the story, once people are talking about it and tweeting about it and calling into the minister’s office to express their concern…then that prompts action. We’ve been incredibly blessed that there are a lot of people who are interested in The Isaac Foundation and always looking for ways that they can give back and help. For the second straight year, this is a way they’ve been able to do that.”

Violet, like Isaac and like Jasper, will now get Enzyme Replacement Therapy.

While ERT treatment has proven to be essential, McFadyen has repeatedly stated that it’s not a cure.

Today, The Isaac Foundation is launching Project One Million. Andrew and Ellen McFadyen established the foundation in 2006 to not only raise awareness for MPS VI, but to also help fund innovative research projects.

Currently, they are ecstatic about a research project in New York City related to bone and joint disease in children affected by MPS VI.

“We’re starting to discover that the disease progression is the buildup of these complex sugars in the body and attacking the organs, but it’s also the inflammation that’s taking place in the bones and joints,” McFadyen said in an interview earlier this week. “It’s that inflammation that is leading to many of the devastating physical symptoms that our kids are seeing; the stiffening of joints, the spinal cord compression, in my son his hands are starting to become very ineffective — he has no strength and can’t make a fist. He can’t even do up the buttons of his shirt anymore.”

McFadyen said through The Isaac Foundation they focus on research projects that aim to find a cure or offer a short-term solution. The researcher in New York City has discovered oral anti-inflammatory medication that’s already on the market, already FDA approved, already approved by Health Canada.

This anti-inflammatory has already been tested on lab rats that are affected by MPS VI.

“Rats and cats develop MPS VI naturally and so they’re a really good indictor for what medications work and which medications don’t work for humans,” McFadyen said. “The progression of the disease is almost identical in these animals as it is in humans. What she’s found is this anti-inflammatory is reversing almost all of the bone and joint disease in these animals.”

A video was sent to the McFadyens showing two different rats. The untreated rat had difficulty walking, coarse facial features, matted fur, its eyes were clouded over and had still joints, “actually, very depressing to see,” McFadyen said.

As for the rat treated with the anti-inflammatory, “you would never know there’s a problem. The animal is trying to jump out of its box in the lab, it’s running around, the facial features aren’t as coarse.

“For us, we naturally looked at that and said let’s start a human clinical trial. We’re ready,” he added. “(The Isaac Foundation) funded a trial in lab animals using the anti-inflammatory in conjunction with ERT just so we know that it’s safe and those early results show that it’s very safe and no change in the blood chemistry.”

Of course, it’s not as simple as just starting the human trial.

“We need a million dollars,” McFadyen said. “This number continues to come up in my life. A million dollars a year to fund to fund my child’s treatment. Now we need a million dollars to do a human clinical trial.”

Pharmaceutical companies have said they not interested in funding the trials, McFadyen said. So once again, the McFadyens are taking it upon themselves to make something happen.

The result: Project One Million.

“Our hope is that we can start a million conversations about rare diseases across the world,” McFadyen said. “We want to have a million people view our video, we want a million likes and shares (on Facebook), a million tweets (on Twitter), and perhaps we can inspire a million people to donate $1 each so that we can fund this clinical trial.”

McFadyen said he felt the world of MPS shift a bit last month when the results of this study were presented.

“It will only enhance the quality of life for these kids,” he said, while expanding using Isaac as an example.

“We have every hope that his hands will begin to work again, and that he’ll be able to raise his arms up above his head, that his stamina will increase because the tightness in his hips will decrease, that there won’t be any more danger of spinal cord compression in him. The hope for this drug is off the charts.”

One million dollars is a lot of money to raise and that fact hasn’t been lost on the McFadyens.

“We know we have lofty goals, but if we just sit around and wait for something to happen, we’re never going to accomplish anything,” he said.

They will get some help, including from international music star John Mayer, who is a big supporter of Isaac’s. He’s met with the McFadyens several times prior to concerts in Toronto.

“We’re lucky that musician John Mayer is going to help get this video out,” McFadyen said. “He’s going to share it on his blog online and ask people to go and view it, and that’s a big boost. He’s got a lot of followers online.”

For instance, if you go to Mayer’s Facebook page, he has well over 5,300,000 ‘likes’.

They are also taking a ‘Share It Forward’ approach. They would like everyone to share the video and information about Project One Million, but they’ve also specifically identified 16 of the most influential social media celebrities, like Ellen DeGeneres, Johnny Depp and Anderson Cooper.

“The idea is the first celebrity that shares it, in this case John Mayer, will not only share it with the people that follow him online, but he’ll also share it forward to the next person in our chain (of celebrities) ask to send it forward,” McFadyen said. “We don’t know how far we can have this chain go, perhaps it stops at one, but maybe it goes all the way through that chain.”

McFadyen knows the million-dollar goal is a lofty one.

“We’re not naïve,” he said. “We may launch this and have 100 views and that’s it, but our business is hope and sometimes that’s all you have left.”

The website for Project One Million is www.projectonemillion.ca. The link for their video, which they hope people will watch and pass on, is http://www.youtube.com/watch?v=iPhisB8_-wM.

jeff.gard@sunmedia.ca

twitter.com/NT_jgard