12 May 2014

Sticky Post By mcfadyena Posted in Blog Postings Permalink

Surgery

Sticky Post By mcfadyena On 12 May, 2014

Hi Everyone,

Isaac’s just gone in for some routine surgery – removal of a dental cyst and a full eye exam under general anesthetic (his eyes have clouded over so badly that they can’t see in anymore, hence the more advanced look at things today.) For most families, that is routine. But for families dealing with MPS, anything under a general anesthetic is anything but routine, which is why Ellen, Gabriel, and I are sitting here, stressed and worried for our little boy.

Children suffering from MPS have compromised airways, and general anesthetics should be avoided at all costs. I’ve heard of too many complications that our beautiful kids have had while under a general to sit here and be relaxed about the process. MPS Specialists always recommend ensuring the best anesthesiologists handle our kids, and we are lucky to have the best today.

We are in the Surgical Waiting room at the Hospital for Sick Children, a place that I’ve grown accustomed to hating. The tension in this room is unbearable, and the waiting is worse. I can’t count the number of blog entries I’ve written from here – it gives me something to do to keep my mind off things.

Parents and families dealing with MPS gain a unique perspective on life throughout the entire journey, and perhaps more so while sitting in a room like this. Sitting here, we’ve given up our child to the hands and arms of some of the best physicians in the world, and we have to trust that things will go smoothly. I’m comforted in the fact that Dr. Cengiz Karsli (pictured above with Isaac), an incredible anesthesiologist that has handled Isaac’s care since our first surgery here, is once again handling things for Isaac today. We were initially told that he wasn’t scheduled for Isaac today, and our stress level went through the roof. But he arrived and immediately made us feel better that he was there.

When Isaac was 2 1/2 years-old, he had a very major spinal-cord decompression surgery. The compression was so bad that they had to route out a piece of his vertebrae with a diamond drill bit. Needless to say, it was a very difficult surgery and we were terrified for our son. A few hours into the surgery, Dr. Karsli came into the waiting room looking calm and relaxed – he was actually chewing away on an apple and had a smile on his face. He dropped in quickly to tell us that things were going OK and not to worry. That moment made us admire him immediately. It was something he didn’t have to do, but he did so to put our minds at ease, and I’ve always been grateful to him for it. He probably doesn’t even remember that moment, but we sure do!

His relaxed nature is so helpful, but the kindness and care he shows our son really sets him apart from the rest. Even if Isaac’s airway doesn’t give him any trouble this morning, we’ll always do whatever we can to ensure that Dr. Karsli keeps Isaac under his care for the next surgery (and there will be more). If nothing else, this process is easier on us all with him being here, and we wouldn’t have it any other way.

Thinking back to our first surgery, this room felt so lonely for us. Ellen and I sat here worried sick for our son, and it felt like it was just us dealing with things on our own. We had just started our charity, and were trying to figure out how we were going to find a cure for our boy before it was too late. Today, 8 short years later, it feels like we have an army of support behind us, and this room doesn’t feel as lonely as it did before (I still hate it, however!) I posted a quick photo of Isaac earlier, and we’ve received so many words of hope and encouragement, and I’m incredibly thankful for that. And with that same help and support, we’re well on our way to finding a cure for our kids, and we can’ thank you all enough for being here for us always..

I’ll update once Isaac comes out of recovery and once I find a spare moment.

With Love and thanks always,

A.

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!

23 Jan 2014

Sticky Post By mcfadyena Posted in Jack Fowler Permalink

Request for Collaborative Approach – An Open Letter To Flemming Ornskov

Sticky Post By mcfadyena On 23 January, 2014

Dear Mr. Ornskov and Mr. Vickers,

I am writing to request an opportunity for you to review information we have gathered to support an Individual, emergency use, expanded access application for Jack Fowler. I am very confident that the document we have prepared will present a very compelling case to allow access to your investigational drug SHP-609 outside of the clinical trial setting. After consultations with the FDA and some of the most experienced and powerful people throughout the pharmaceutical world, I truly believe that allowing this application to move forward to the FDA can and will work to meet the the best interests of the patient, the Hunter community as a whole, and Shire plc. We are firm in our belief that the information we have gathered to support this application enhances the clinical trial process, which in turn is a direct benefit to Shire.

If you are interested in working collaboratively to meet the needs of the entire patient community that you hope to represent, please indicate in writing if you will accept our document that lays out our position. I would very much like to receive your feedback and counter arguments against supporting this application, with hopes that we can work together to come to a resolution. Perhaps an open and honest discussion could follow as we continue to find the best way to meet the needs of this patient while supporting and enhancing the clinical trial that is currently underway.

I look forward to hearing from you with a response within the next 24 hours.

Very Sincerely,

Andrew McFadyen

The Isaac Foundation
“Love, Laughter, and Hope”
www.theisaacfoundation.com

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.

05 Aug 2013

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

Family fights for funding to treat daughter’s rare condition

Sticky Post By mcfadyena On 5 August, 2013

August 5, 2013 by editor

A St. Albert couple is waging a fight with the Alberta government for their daughter’s life.

Laura and Dane Sadownyk live in Erin Ridge with their three-year-old daughter Aleena who, earlier this year, was diagnosed with an extremely rare condition called MPS VI, or Maroteaux-Lamy Syndrome. Treatment is available, but could cost anywhere from $300,000 to $1 million a year, and the family is working with a foundation out of Ontario to get the province to fund treatment through its Short-term Exceptional Drug Therapy Program.

The parents of three-year-old Aleena Sadownyk are fighting to have treatment for their daughter’s rare medical condition funded by the Alberta government. (Photo supplied)

“It’s devastating to hear your child has any kind of condition that not only is rare, but takes time to find,” Dane said. “We’ve been through a wide range of emotions, for sure, as parents. You’re trying to absorb it all; it’s surreal at times.”

Currently, there are only nine cases of MPS VI in Canada and 1,100 worldwide. Sufferers lack an enzyme in their blood that breaks down cellular waste called glycosaminoglycan (GAG). This waste then builds up in bones, tissues, organs and muscles, causing heart and lung disease, stiffened joints, shortened stature and premature death.

Aleena was diagnosed with MPS VI in April, and since then, Dane said that she has dealt with it pretty well.

“She does have a very keen sense of what’s going on around her,” he said. “When your daughter starts asking questions like, ‘Are we going to the doctor today?’ and things of that nature, you know they’re sensing there’s something going on.”

There is no cure for MPS VI, but it can be managed through an enzyme replacement therapy called Naglazyme, which infuses small doses of a synthetic version of the enzyme Aleena is lacking on a weekly basis.

However, given how expensive treatment is, the Sadownyks need help from the provincial government. They have already applied to the Alberta Rare Disease Funding Program, but were told that was not the right program because Naglazyme had not been given general market approval through Health Canada.

“My heart goes out to the Sadownyk family. I know they want to do everything they can to help their daughter,” Alberta Health Minister Fred Horne said in a statement emailed to the Leader.

Health Minister Fred Horne. (Sun Media News Services)

“Because [Naglazyme] doesn’t have federal approval, the options for funding this drug are different than for some other drugs. … [The Short-term Exceptional Drug Therapy Program] relies on medical experts to assess whether a specific drug will be safe and effective for a specific patient. It’s done on a case-by-case basis, so it can take a patient’s needs and particular health condition into account.”

Helping the Sadownyks fight their battle is the Isaac Foundation out of Ontario, headed up by Andrew McFadyen, whose son Isaac was also diagnosed with MPS VI in 2006 when he was 18 months old. He has been receiving Naglazyme treatment for about seven years and is doing “extremely well,” his dad said, and that has inspired him to help other families get the treatment they need.

“When Isaac was diagnosed, we were told there was a treatment available, but we were told by our physician, ‘Don’t even think about it because you’ll never get it here in Canada,’” McFadyen said. “For us, the only thing we could do is fight for our child, so that’s what we did. We made sure we could bring it to Canada, then we made sure we could deal with the bureaucrats to get it funded in Canada. From that, there was precedent set.”

McFadyen has helped families fight for Naglazyme funding in British Columbia, Saskatachewan and Quebec. But dealing with the Alberta government has been frustrating.

“It just seems kind of silly that a group of bureaucrats are going to sit down in a room again and review the same data and make a decision on the fate of this little girl based on what they do or do not know about the drug,” he said.

While the Sadownyks would like to get Aleena started on Naglazyme as soon as possible and say it “means the world” to have someone like McFadyen on their side, there is no set timeline for a decision from the provincial government.

“As a politician, I don’t get directly involved in assessing which drugs would be funded through that process — and appropriately leave that assessment to medical experts,” Horne said in his statement. “Department officials will continue to support the application process, a clinical review is underway now and I understand we expect a response soon.”

Meanwhile, Dane is holding out hope that treatment can begin as soon as possible.

“We have more hope now than if we were trying to navigate this on our own,” he said. “Having said that, I’ll never feel completely satisfied as a parent until the day comes and we can take her in for those treatments.”

— GLENN COOK, St. Albert Leader

15 May 2013

Sticky Post By mcfadyena Posted in Advocacy, Media, Newspaper Permalink

Foundation Calls For Commitment of Timely and Accessible Outcome for Families

Sticky Post By mcfadyena On 15 May, 2013

Mt. Sinai Takes Steps To Develop Potential Treatment for MPS I Patients

Foundation Calls For Commitment of Timely and Accessible Outcome for Families

On this International MPS Awareness Day, The Icahn School of Medicine at Mt. Sinai announced a partnership agreement with bene pharmaChem to conduct clinical studies on the use of pentosan polysulfate (PPS) in patients suffering from MPS I disease. With this announcement, The Isaac Foundation is calling on Mt. Sinai and bene pharmaChem to immediately commit to ensuring that such studies take place in a timely fashion and that any marketed treatment is made readily available, accessible, and affordable for children and adult MPS sufferers alike.

Sufferers of MPS 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.

PPS has been shown to reduce the chronic inflammation associated with the majority of MPS cases; inflammation that leads to many devastating physical symptoms for sufferers. The major research on PPS was completed by Dr. Cologera Simonaro at Mt. Sinai University and supported in part by grants from The Isaac Foundation for MPS Treatment and Research.

The Isaac Foundation has taken an active role in ensuring an in-depth and proper study be conducted on the potential use of PPS as an adjunct therapy for patients suffering from all MPS diseases and has led the advocacy efforts to bring pharmaceutical giant Johnson & Johnson on board to help with such study. As a direct result of these advocacy efforts, Johnson & Johnson created an advisory panel consisting of the top MPS clinicians and researchers in North America. This panel is set to meet on May 20^th with an aim to look at the data compiled by Dr. Simonaro and thoroughly discuss the potential impact of PPS on the patient community worldwide.

With today’s announcement by Mt. Sinai, Andrew McFadyen, the Executive Director of The Isaac Foundation, wants to ensure that the best interests of MPS sufferers remain at the forefront of any discussion and advancement of PPS as a treatment option. McFadyen states, “We’re being very cautious about today’s news for a number of reasons. All along, we have felt the best path forward was through a collaborative and very scientific approach to the current data, especially given the fact that there is already an FDA approved medication, albeit for a different indication, and it is among the least invasive administrations, oral administration. We received assurances from Johnson & Johnson that their commitment to the study of PPS would always be patient focused, and all decisions made moving forward would be based on a patient-centered model. Essentially, they committed to moving forward based on best science for our kids and without a marketing and profit-taking strategy. With this announcement from Mt. Sinai today, we’re calling on them to publicly commit to the same goals.”

In the United States, under the Orphan Drug Act, new treatments for rare diseases receive years of market exclusivity, which leads to the marketing of some of the most expensive drugs on the planet. McFadyen wants to ensure this doesn’t become the case for any marketed PPS treatment: “While it’s fantastic to see movement on the clinical trial front for these treatments, it won’t do patients any good if the development is lengthy, the administration is burdensome, and the medication is approved and marketed at an unaffordable price point. Reformulation of approved drugs via changes in administration or dosing accompanied by exponential price increases has been seen before. Those are the circumstances we were trying to avoid in seeking to work with Johnson & Johnson and their already approved drug Elmiron®. On just the price point issue alone, for an adjunct therapy (MPS I, II, and VI already have approved high dollar therapies), in Canada, it could come down to fighting Provincial governments to approve yet another expensive treatment, while in the United States it will be up to families to fight with their insurance providers.”

McFadyen sums up his request simply. “The lives of our kids should never hinge on dollars and cents. This is why we are calling on Mt. Sinai to commit, in the same manner that Johnson & Johnson did, to ensuring any marketed treatment for our patients is accessible and affordable. If moving forward is truly and solely patient focused, I’m sure Mt. Sinai would be happy to make such a commitment for our kids.”

# # #

For more information about this topic, or to talk with The Isaac Foundation, please call Andrew at 613-328-9136 or email Andrew at andrew@theisaacfoundation.com.

11 Apr 2013

Sticky Post By mcfadyena Posted in Blog Postings Permalink

JnJ Update

Sticky Post By mcfadyena On 11 April, 2013

Update – JNJ

Hi Everyone,
I just wanted to drop in to provide a very quick update about recent progress made with JnJ and their commitment to do a full and proper study of Elmiron and it’s uses within the MPS Community. I will provide a broader update as soon as possible, but wanted to give a briefing while I had the chance.

Representatives of The Isaac Foundation met with Dr. Amrit Ray, Johnson and Johnson’s Chief Medical Officer, this afternoon in Toronto. Dr. Ray’s commitment to seeing this project move forward was very refreshing, and we trust him to ensure the speedy movement of this file moving forward.

In the coming weeks, the medical advisory panel assembled by the JnJ brass will gather to look at the data currently available and plot possible paths forward for the full study this drug needs as we seek to provide the best treatment options available for our children suffering from MPS.

While we are heartened with the level of dedication JnJ seems to have regarding Elmiron and MPS, The Isaac Foundation will continue to tirelessly advocate for the advancement of this process throughout it’s various stages and be on hand to ensure a thorough study is done for our kids. We know you will be with us along the way, ready to fight for what we all believe in. Our kids deserve the best treatment modern science can provide, and it’s our job to help them win the battles they are fighting.

Thank you for your continued support.

With Love,
The Isaac Foundation

04 Mar 2013

Sticky Post By mcfadyena Posted in Blog Postings Permalink

Johnson and Johnson Update

Sticky Post By mcfadyena On 4 March, 2013

IMPORTANT UPDATE – PLEASE SHARE

Numerous times over the weekend, and again late this afternoon, I had the opportunity to have lengthy discussions with Dr. Amrit Ray, the Chief Medical Officer of Pharmaceuticals at Johnson & Johnson. Those discussions proved very fruitful, and I am pleased to report my sincere belief that Janssen Pharmaceuticals is engaged in moving forward in a very real and serious manner with respect to the proper study of Elmiron as it relates to MPS patients.

Janssen has committed to forming a medical advisory panel, and plans to meet with these experts in the very near future. Their aim will be to review current data so they may better understand whether Elmiron might be a candidate for further research in the search for a safe and effective treatment to support children with MPS. This commitment was made and has been followed through on in very short order. I am happy to report that some of the leading experts in the world who specialize in MPS diseases, have already signed on to participate in Johnson & Johnson’s medical advisory panel. In short – this is fantastic news for our kids.

The Isaac Foundation has been communicating with Johnson and Johnson (Janssen Pharmaceuticals) for the better part of 8 months in our ongoing effort to ensure that such a review could become a reality for our children. And while these past 8 months have proved frustrating and stressful, the past few days have restored our true hope that the data presented on Elmiron may lead to a clinical trial in our children in the very near future.

Does this mean that a clinical trial is imminent? The answer is no, we aren’t there yet. But this does mean that a true review of Elmiron by Janssen will be thoroughly conducted by the some of the best minds in the field of MPS, from all over the world. We look forward to monitoring the progress of those discussions as we seek to find the best treatment options possible for all of our kids suffering from MPS.

It is important to note that all of your voices have been heard, and we can’t thank you enough for standing up for what you believe in – for standing up for our children. Two short weeks ago, we were at a dead-end with respect to further study of this drug by Johnson and Johnson. Two short weeks ago, hopes were dashed that progress could be made moving forward. But you let your voices be heard, and asked for Johnson & Johnson to live up to it’s Credo Values – values that commit their “first priority is to the doctors, nurses and patients, to the mothers and fathers…”

Working together, your voices united to remind them of those values. After speaking with Dr. Ray late this evening, it is my firm belief that those values will be upheld and that Johnson & Johnson will do everything in its power to put our children first.

Please take a moment to let Johnson & Johnson know how you feel about these latest developments. You can click on the link below to leave them your thoughts, and comment here too, please!

https://www.theisaacfoundation.com/leave-jnj-a-message/

And to leave a message to some of the advocacy groups that spent countless hours working for our kids, please visit their sites below. They did it all – and always had our kids’ best interest at heart.

http://www.savingcase.com
http://heresjack.com
http://www.treypurcell.com/blog/

10 Feb 2013

Sticky Post By mcfadyena Posted in Advocacy, Media, Newspaper Permalink

The Agonizing Fight for Isaac: The Hope and the Hurdles

Sticky Post By mcfadyena On 10 February, 2013

Andrew 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

Sticky Post By mcfadyena Posted in Blog Postings Permalink

War of My Life – A Long Awaited Update

Sticky Post By mcfadyena 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

01 May 2012

Sticky Post By mcfadyena Posted in Media, Newspaper Permalink

School Supports Student With Rare Condition

Sticky Post By mcfadyena On 1 May, 2012

1337885928545_ORIGINAL Michelle McCarthy for QMI Agency

Thursday, May 31, 2012 12:44:51 EDT PM

CAMPBELLFORD – Students at Kent Public School energetically poured into the play yard recently for a Jump-A-Thon fundraiser in Support of the Isaac Foundation.

The event which included hula hoop contests, ball hockey and music, was just one of many fundraising initiatives that have been held for Kent’s own Grade 2 student Isaac McFayden. While energetic and full of life, Isaac lives with MPS VI, a disease so rare it affects only five children throughout Canada.

MPS VI is a progressive disease that’s caused by an enzyme deficiency. It creates a variety of symptoms that can affect every aspect of the body from growth and internal organs, to muscles and joints. There are various degrees and types of MPS, such as the MPS VI that afflicts young Isaac.

“Our world was definitely changed forever in 2005 when at 18 months Isaac was diagnosed with this devastating disease. It was very hard on both me and Lisa, who at the time was pregnant with Gabriel, our second child,” said Andrew McFayden, director of the foundation and Isaac’s dad.

Although Isaac’s brother Gabriel was not born with MPS, at the time the McFaydens were faced with a very real one-in-four chance that their new baby would also be born with the genetic disease.

“It was a hard time and we both took time off work but we spent some time feeling sorry for ourselves and for Isaac, we realized he wasn’t going to get better with us sitting around watching him deteriorate, which is what began the Isaac Foundation.”

The McFaydens have been working tirelessly ever since to help their son and others afflicted with this rare condition. Andrew McFayden said that, luckily for Isaac’s sake, the foundation was able to achieve a lot in a small amount of time. In 2005 when this began, the lifesaving treatment available to slow the progression of MPS was only available in the US and was far too expensive to afford, costing millions of dollars a year to administer.

“Our first goal was to get the treatment brought to Canada and then to have the province fund it fully,” McFayden said. “It was a long and hard fight but we were successful and it has made all the difference in all our lives and continues to help maximize Isaac’s quality of life.”

Since the Isaac Foundation’s inception in 2006, it has donated more than $300,000 to research and is close to committing another $60,000 towards finding a cure for Isaac and others who are suffering from this rare condition. McFayden said it’s thanks to continual support, like that at Kent Public School, that they are able to continue achieving their goals at the foundation.

Kent Public School’s May 17 Jump-A-Thon raised more than $1,000 for the foundation, which is a nice addition the $12,000 the school has already raised over the last three years through other endeavours such as this.

The school secretary, known to most as Ms. Lisa, spoke very highly of the young student and the bond and sense of community he seems to help foster at the Campbellford public school.

“Although Isaac’s illness causes him to face certain challenges, he never comes across or presents himself as if he has any challenges,” said Ms. Lisa. “He’s just so personable and smart, and has such a great attitude and joy for life that it’s really inspirational to watch.”

She said as a school, Kent is often asked to support a number of charities all very worthy of support, but it’s particularly great when they get an opportunity to help out with something so close to home.

“Isaac and our fundraisers have brought us so much closer as a school and have fostered such a sense of community among the students and staff,” said Ms. Lisa. “All you have to do is look out in the yard and see them interacting with Isaac, watch the participation, excitement and acceptance and it’s like that every time we hold an event for the Isaac Foundation.”

McFayden said the Isaac Foundation has a few of their bigger fundraisers coming up over the next few months including their main Gala for the Cure on Oct. 13, 2012 and their charity golf tournament on June 23.

He added this coming May 26 and 27 the Isaac Foundation will be participating in Ottawa’s annual race weekend in an effort to raise funds for the foundation. A local running team of more than 35 individuals have been fundraising and collecting sponsors leading up to the event, and McFayden said it will be interesting to see how much money the foundation can raise.

“The research we help fund is beyond important and looks very exciting. Some of it quite promising for Isaac and others in the shorter term so we’re in this to really do everything we can to continue funding the MPS research taking place across the globe,” he said.

For more information on the Isaac Foundation, Isaac and upcoming fundraising events, visit www.theisaacfoundation.com.