Former Blue Jay Roy Halladay with Isaac McFadyen who was diagnosed with the very rare disease called MPS VI. (QMI Agency)Jeff Gard, QMI Agency
CAMPBELLFORD, Ont. – An Ontario family is lobbying for provincial funding so their two-year-old boy can get treatment for his rare and debilitating enzyme deficiency disease.
And they’re doing it with the help of another Ontario family who went through the same fight five years ago.
Seven-year-old Isaac McFadyen from Campbellford, Ont., is one of eight people Canada diagnosed with Maroteaux Lamy Syndrome (MPS VI). Only 1,100 worldwide have the progressive disease. Symptoms include stiffening joints, stunted growth, heart and airway disease, spinal cord compression and a shortened life span.
The McFadyens also know how much treatment has helped Isaac – a treatment he gets only because of provincial funding, which they had to lobby to get.
About five years after Isaac’s diagnosis, a Palmerston, Ont., family is going through a similar experience. Darren and Pam More’s two-year-old son Jasper was diagnosed with MPS VI six weeks ago. They learned Monday that Jasper was denied funding to receive the treatment.
“It’s shocking in our province right now that this is taking place. We do have precedent set with Isaac and it’s virtually an identical case,” said Andrew McFadyen, Issac’s father. “To me, it’s a travesty and it’s not representing equal access to health care for everybody.”
However, Health Minister Deb Matthews noted the laws in Ontario changed in 2006 to prevent politicians from choosing which drugs do or don’t get covered. Now, the decision rests with an executive officer who relies on a panel of experts that weights medical evidence.
“However, I do want to learn more about this and I need to understand the basis of the decision,” Matthews said.
While there’s no cure for MPS VI, there is the life-sustaining treatment available called Naglazyme, which provides patients with a synthetic version of the enzyme they are lacking by infusing small doses of it into the bloodstream.
The treatment can cost anywhere from $300,000 for a small individual to $1 million for a young adult each year.
“Studies are showing right now that kids that get on this treatment at a young age, basically where Jasper is, it gives them a better opportunity to prevent some of the side effects that come with the disease,” McFadyen said.
“Children diagnosed before age of three are thought to have a severe case and need to be treated immediately in order to prevent a lot of difficult things disease can inhibit in children.”
Naglazyme is only available to Canadian patients through the federal government’s Special Access Program. The only provinces funding the treatment are Ontario, British Columbia and Quebec.
Isaac has been receiving the treatment once a week for five years at the Hospital for Sick Children in Toronto.
Told of the More family’s circumstances, Ontario Premier Dalton McGuinty said his heart goes out to the family in their difficulties, but that he had no first-hand knowledge of the case and could not comment. He suggested getting in touch with Health Minister Deb Matthews.
Matthews echoed the premier’s sentiments.
“I certainly certainly understand why this doesn’t sit right with Ontario families. I am following up to learn more about this drug and this particular situation,” she told QMI Agency on Wednesday. “I do know how important this is, and we want to do the right thing.”
Matthews said she will urge the ministry to examine the latest evidence on naglazyme.
The Mores issued an appeal to the rejection of funding on Tuesday.
The McFadyens established The Isaac Foundation in 2006 to raise money for innovative research projects that aim to find a cure for MPS VI. They also help families touched by the disease.
– With files from Sheena Goodyear
Family Lobbies For Sick Tot's Treatment August 17th, 2011mcfadyena
CAMPBELLFORD, Ont. – Jasper More, the two-year-old Palmerston, Ont., boy recently diagnosed with a rare and debilitating enzyme deficiency disease, will receive treatment through provincial government funding after all.
As reported Wednesday by QMI Agency, Jasper was diagnosed six weeks ago with Maroteaux Lamy Syndrome (MPS VI).
He is one of eight Canadians who has the progressive disease, and its symptoms include stiffening joints, stunted growth, heart and airway disease, spinal cord compression and a shortened life span. Only 1,100 people worldwide have MPS VI, for which there is no cure.
Darren More, Jasper’s dad, said he received a call Thursday from the family’s genetics doctor to inform them Jasper would receive the treatment Naglazyme through Canada’s Special Access Program and it will be funded by the Ontario government.
“It was absolutely breathtaking …literally breathtaking. I couldn’t breathe,” More said. “It’s such a huge weight off our shoulders. We’re so happy our child is going to get that treatment and have a chance at a normal lifestyle.”
Naglazyme is a treatment that provides patients with a synthetic version of the enzyme the disease’s sufferers lack by infusing small doses of it into the bloodstream. It can cost anywhere from $300,000 for a small individual to $1 million for a young adult each year.
Naglazyme is only available to Canadian patients through the federal government’s Special Access Program. The only provinces funding the treatment are Ontario, British Columbia and Quebec.
Jasper was originally denied funding for the treatment.
It was surprising news to a Campbellford, Ont., family. Andrew and Ellen McFadyen’s son Isaac, who is now seven, has been receiving the treatment for five years because of provincial funding, which they had to lobby to get. Isaac makes a weekly trip to the Hospital for Sick Children in Toronto for the treatment.
The McFadyens established The Isaac Foundation in 2006 to raise money for innovative research projects that aim to find a cure for MPS VI. They also help families touched by the disease.
Since Monday, the McFadyens helped the Mores lobby the government, and created awareness of the More case through social media, bringing it national attention.
“I certainly understand why this doesn’t sit right with Ontario families. I am following up to learn more about this drug and this particular situation,” Ontario Health Minister Deb Matthews told QMI Agency on Wednesday. “I do know how important this is, and we want to do the right thing.”
Andrew McFadyen heard the news through More.
“For Ellen and I, we’ve been through that and to experience with them in just a small way was very special,” he said.
McFadyen said the treatment for his son has made a world of difference.
“Essentially given him a new life,” he said. “We were told initially he wouldn’t make it to this age, but he has and right now he’s out playing with all of his friends like seven-year-olds should be doing. He has every chance in the world, like every kid should, and that’s all because of treatment. Jasper will have that chance now, too.”
The Ministry of Health could not be reached for comment Thursday.
Ontario Ponies Up For Sick Tot’s Medical Bills July 28th, 2013mcfadyena
CAMPBELLFORD, Ont. – Jasper More, the two-year-old Palmerston, Ont., boy recently diagnosed with a rare and debilitating enzyme deficiency disease, will receive treatment through provincial government funding after all.
As reported Wednesday by QMI Agency, Jasper was diagnosed six weeks ago with Maroteaux Lamy Syndrome (MPS VI).
He is one of eight Canadians who has the progressive disease, and its symptoms include stiffening joints, stunted growth, heart and airway disease, spinal cord compression and a shortened life span. Only 1,100 people worldwide have MPS VI, for which there is no cure.
Darren More, Jasper’s dad, said he received a call Thursday from the family’s genetics doctor to inform them Jasper would receive the treatment Naglazyme through Canada’s Special Access Program and it will be funded by the Ontario government.
“It was absolutely breathtaking …literally breathtaking. I couldn’t breathe,” More said. “It’s such a huge weight off our shoulders. We’re so happy our child is going to get that treatment and have a chance at a normal lifestyle.”
Naglazyme is a treatment that provides patients with a synthetic version of the enzyme the disease’s sufferers lack by infusing small doses of it into the bloodstream. It can cost anywhere from $300,000 for a small individual to $1 million for a young adult each year.
Naglazyme is only available to Canadian patients through the federal government’s Special Access Program. The only provinces funding the treatment are Ontario, British Columbia and Quebec.
Jasper was originally denied funding for the treatment.
It was surprising news to a Campbellford, Ont., family. Andrew and Ellen McFadyen’s son Isaac, who is now seven, has been receiving the treatment for five years because of provincial funding, which they had to lobby to get. Isaac makes a weekly trip to the Hospital for Sick Children in Toronto for the treatment.
The McFadyens established The Isaac Foundation in 2006 to raise money for innovative research projects that aim to find a cure for MPS VI. They also help families touched by the disease.
Since Monday, the McFadyens helped the Mores lobby the government, and created awareness of the More case through social media, bringing it national attention.
“I certainly understand why this doesn’t sit right with Ontario families. I am following up to learn more about this drug and this particular situation,” Ontario Health Minister Deb Matthews told QMI Agency on Wednesday. “I do know how important this is, and we want to do the right thing.”
Andrew McFadyen heard the news through More.
“For Ellen and I, we’ve been through that and to experience with them in just a small way was very special,” he said.
McFadyen said the treatment for his son has made a world of difference.
“Essentially given him a new life,” he said. “We were told initially he wouldn’t make it to this age, but he has and right now he’s out playing with all of his friends like seven-year-olds should be doing. He has every chance in the world, like every kid should, and that’s all because of treatment. Jasper will have that chance now, too.”
The Ministry of Health could not be reached for comment Thursday.
Ontario Ponies Up For Sick Tot's Medical Bills August 8th, 2011mcfadyena
TRENT HILLS — Gabriel McFadyen, 4, left, Ellen Buck-McFadyen, Andrew McFadyen, and Isaac McFadyen, 6.
Northumberland News
ByMoya Dillon
CAMPBELLFORD — Andrew and Ellen McFadyen are great examples of the lengths parents will go to for their children.
Their son Isaac, now 6, was diagnosed with MPS VI at the age of 18 months, an extremely rare disease caused by an enzyme deficiency. Since then, the couple has successfully lobbied the government not only to bring the previously-unavailable therapy called Naglazyme to Canada, but also to pay for the expensive treatments, which can run anywhere from $300,000 to $1 million per year. They also founded the Isaac Foundation to raise money in support of ongoing research into MPS, which currently afflicts only five known individuals across the country.
“Because it’s ultra-rare, it makes it hard to lobby governments,” Mr. McFadyen explained, noting a lack of data and studies due to the small population of affected individuals hampers efforts.
“Today we are happy we have that treatment. We call it his lifeboat because it slows the progress of the disease, but it’s definitely not a cure. He has a lot of limitations still.”
Those limitations include not being able to lift his hands above his head, as well as ongoing heart issues and joint stiffening. Isaac’s growth has also effectively shut down, leaving him smaller than other children his age and he must miss one day of school per week to travel to Toronto’s Sick Kids Hospital for treatments, which constitutes a 12 to 13 hour day for him and the rest of the family, including younger brother Gabriel.
The Isaac Foundation has raised $240,000 since its inception in 2005 and is currently funding two research projects, one in New York and one in Australia. Similar projects typically take between 15 and 18 months to get off the ground and the McFadyens try to get out funding as quickly as possible.
“When we receive a proposal, it’s sent to our Medical Advisory Committee right away to evaluate whether or not it has merit,” Mr. McFadyen explained.
“It’s typically one month to at most two before they have their funding. We often feel like we are racing against time with this disease and getting the money out quickly is important. We want to make sure those projects that look promising get started as quickly as possible so they can have the most impact.”
Mr. McFadyen said the family is especially excited about the possibility of one of the research projects entering clinical trials within one year, with Isaac signed up to participate. That type of opportunity wouldn’t have been possible without the support the charity has received over the years, he explains, including public support from celebrities such as John Mayer and The Tragically Hip.
“We wanted to play a part in finding a cure for our son,” said Mr. McFadyen, who is also a full-time teacher, of the decision to create The Isaac Foundation.
“We didn’t want to look back and think we could’ve found a cure if we’d only spent more time on this. We throw everything we have into learning about this disease and finding a cure as a family. It’s definitely been a steep learning curve but when you have something as important as your son on your mind you just do it and you do it happily.”
The gala in Cobourg is one of the organization’s first events close to the family’s Campbellford home.
“We’re excited because we hope it will be a really incredible community experience,” Mr. McFadyen said of the gala, which will include an intimate performance from Ron Sexsmith and a silent auction that includes items such as a guitar signed by Isaac and John Mayer.
“This is our first event close to home and we always did that on purpose because home was supposed to be our refuge from all this, but we’re okay being at home and working on this. This event’s exciting because it will bring everyone together. We feel like we’ve been successful so far, but in the end we still haven’t found a cure for Isaac, and that’s the goal.”
The Gala For a Cure, featuring Ron Sexsmith, will be held Friday, Oct. 1 at the Best Western Inn and Convention Centre in Cobourg at 6 p.m. Tickets are $100, with a $60 charitable receipt and include dinner, entertainment and wine tasting courtesy of Black Prince Winery. Tickets are available by calling Ms. McFadyen at 705-632-0983 or visiting www.theisaacfoundation.com. They can also be purchased at Eclectic Mix in Warkworth and the Best Western or Mortgages For Women in Cobourg.
Campbellford Parents Fight For A Cure July 28th, 2013mcfadyena
A costly second chance for little Isaac
With Ontario now funding an expensive new treatment, a two-year-old is flourishing despite his rare disease, LISA PRIEST writes
LISA PRIEST
TORONTO — He’s not even three years old, but the words pulse oximeter roll off Isaac McFadyen’s tongue, as if they are second nature. He knows the device well; it clips onto his finger and measures the oxygen in his blood. It’s one of several checks done each hour he undergoes treatment for his rare disease.
But Isaac’s life is not one of suffering. It is that of a preschooler thriving after receiving one of the most expensive drugs in the world — Naglazyme — the only treatment for Maroteaux-Lamy syndrome, an inherited metabolic disorder.
The bag of colourless medicine, not even a cupful, costs the public health-care system $5,000 to $6,000 for each weekly treatment, something he will require, in some form or another, for the rest of his life.
In the three months he has undergone enzyme replacement therapy, Isaac’s parents say they’ve witnessed dramatic physical changes. Isaac has grown two inches and his belly, once rotund due to an enlarged spleen and liver, has shrunk by three inches.
“For us, the idea that he has a chance at a future, is more than we ever had before,” Isaac’s father, Andrew McFadyen, said.
During his 14th infusion in early December, Isaac, a high-spirited boy, rode a plastic tricycle in the corridors of Toronto’s Hospital for Sick Children, as his mother, Ellen Buck-McFadyen hurried along with him, clutching the intravenous pole that carried his medicine.
A few months ago, the future looked bleak for Isaac, who has mucopolysaccharidosis type VI, or MPS VI for short, a disease so rare it’s estimated that only three to 10 Canadians have it.
In May, his family faced moving to England where the drug is funded by government — at the cost of $300,000 to $1-million annually — or watch Isaac be ravaged by the inherited metabolic disorder.
He had already suffered some of the ill effects of the disease: a piece of his skull and a portion of vertebrae in his neck were removed after they began compressing his spinal cord. His corneas were clouding, his forehead protruded and he had an umbilical hernia.
“We were really close to moving,” said Mr. McFadyen, who was eligible for British citizenship through his Welsh mother. “We had our application filled out and all set to go.”
When Isaac’s plight was profiled in The Globe and Mail in May as part of a broader piece on the lack of an organ drug policy in Canada, the story drew swift reaction, with the subject being raised twice in the Ontario Legislation by the opposition.
In July, the provincial government decided to fund the drug for Isaac after a clinical review by members of Ontario’s inherited-metabolic-diseases program.
“This is not a cure but neither is insulin a cure for diabetes,” said Joe Clarke, senior associate scientist in the Hospital for Sick Children’s Research Institute, who has treated Isaac. “We’re hoping that it will correct the metabolic abnormalities sufficiently so that the disease won’t progress.”
In developed countries, there are an estimated 1,100 sufferers, virtually all of whom will experience severe disability and shortened life spans. That’s because those with MPS VI are missing an enzyme called arylsulfatase B, needed to break down carbohydrates known as glycosaminoglycans. The carbohydrate builds up in the body’s cells and affects multiple organs.
Signs of the disease include stunted growth, enlarged tonsils and adenoids that cause breathing problems, poor mobility and dramatic changes in facial features, including a flat nose and large head. In their teens, sufferers often require heart-valve surgery.
“Isaac is the youngest patient I’ve ever seen with the condition, so we have to consider him to be programmed to have more severe disease,” Dr. Clarke said. “The results we’ve achieved so far, I’m very, very happy with, ecstatic with it.”
Although the drug won’t necessarily reverse the damage the disease has already done, it will help halt its progression.
“If Isaac didn’t get this drug, he was simply going to continue to progress where there would be very little in the quality of life for him,” said Conservative health critic Elizabeth Witmer, who twice raised his plight in the legislature.
She is concerned about Canada’s lack of an orphan drug policy, as is Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders.
“There is widespread agreement that we need to provide some treatment for rare disorders,” Dr. Wong-Rieger said. “But there’s no agreement on how we’re going to provide the funding . . . There’s some real urgency in terms of putting together a process to evaluate these drugs.”
Since Isaac began receiving treatment in September, his life has turned around. The problems of today are much smaller than those of a few months ago: a traffic snarl as they make the two-hour drive to the hospital from their home in Campbellford or a puzzle piece that goes missing in the hospital playroom.
“It’s such a huge relief,” Ms. Buck-McFadyen said, holding her other son, 13-month-old Gabriel, at the hospital. “We know how fortunate we are.”
A Costly Second Chance For Little Isaac July 28th, 2013mcfadyena
Two-year-old Isaac McFadyen sat quietly in a gallery of the Ontario Legislature yesterday as the Progressive Conservative health critic demanded that the provincial government pay for a costly drug to treat the toddler’s rare disease.
Elizabeth Witmer, MPP for Kitchener-Waterloo, asked Health Minister George Smitherman to ensure bridge funding for the enzyme replacement therapy, used to treat Maroteaux-Lamy syndrome, until a national policy is in place.
Without it, the McFadyen family from Campbellford, Ont., will have to move to England where the government covers the drug Naglazyme, which costs a staggering $300,000 to $1-million annually.
“This [drug]can reverse some of the problems of this disease and may even prevent them altogether,” Ms. Witmer said.
But Mr. Smitherman said he was in no position to say right then and there that Ontario would fund the drug.
“This is one of the more difficult circumstances that can be encountered by a family, of course, and by the challenges that it presents for a public health care system,” Mr. Smitherman said. “. . .The case is obviously an individual case that we have to treat as such.”
People like young Isaac are missing an enzyme that is needed to break down carbohydrates, which build up in the body’s cells and affect many organs.
Signs of the disease, known as MPS VI for short, include stunted growth, enlarged tonsils and adenoids that cause breathing problems, poor mobility and dramatic changes in facial features, including a flat nose and large head. Once sufferers reach their teens, they often require heart-valve surgery.
Isaac has already suffered some of the effects of the disease: a piece of his skull and a portion of vertebrae in his neck were surgically removed last month after they began compressing his spinal cord. His corneas are clouding, his forehead protrudes and he has an umbilical hernia.
But in many ways, he is an average rambunctious toddler who, in a high-spirited moment, managed to give Mr. Smitherman a high five yesterday after Question Period.
In an interview, Isaac’s father, Andrew McFadyen, said he was disappointed by Mr. Smitherman’s response in the legislature. But he said that the Health Minister later told him he was going to work “vigorously on the file.”
The drug Isaac requires, Naglazyme, is so expensive that even its U.S.-based developer and manufacturer, BioMarin Pharmaceutical Inc., has acknowledged no patient can afford it. It is the only drug available to treat the disease, which is so rare that it’s estimated only three to 10 Canadians have it.
In most countries where Naglazyme is licensed, such as those in the European Union, governments cover the drug’s cost. In the United States, it is largely funded through private insurance.
In Canada, there is no policy for “orphan drugs” like Naglazyme — medications for rare diseases, the incidence of which varies by country — and no way for people like the McFadyens to afford such costly therapies.
Because Isaac’s parents cannot afford the drug, the boy is going without the treatment. The McFadyen family is planning to move to England to obtain the costly therapy. There, Isaac would be treated by Dr. Ed Wraith, at Royal Manchester Children’s Hospital, who has said that at a minimum he hopes Naglazyme will halt the boy’s disease process.
“We don’t want to have to sell everything and go but we will,” Mr. McFadyen said. “We just can’t sit on this.”
MPP Demands Help For Ailing Boy July 28th, 2013mcfadyena
The parents of Isaac McFadyen have two choices. They can move to England where a drug to treat their son’s rare disease is funded by government — at a staggering cost of $300,000 to $1-million per patient annually — or they can stay in Canada and watch him be ravaged by the inherited metabolic disorder.
The two-year-old Ontario boy is already suffering from the effects of Maroteaux-Lamy syndrome: a piece of his skull and a portion of vertebrae in his neck were removed earlier this month after they began compressing his spinal cord. Isaac’s corneas are clouding, his forehead protrudes and he has an umbilical hernia.
The only drug available to treat the progressive disease, a medication known by the trade name Naglazyme, is so expensive that even its U.S.-based developer and manufacturer, BioMarin Pharmaceutical Inc., acknowledges no patient can afford it.
“For the average citizen, no matter what country you are in, it’s impossible to pay for this out of pocket,” Steve Aselage, senior vice-president of global commercial operations for BioMarin, said in an interview from Novato, Calif. “For most of the world, you need the government to step up and pay for the product.”
The drug is used to treat mucopolysaccharidosis type VI, or MPS VI for short, a disease so rare it’s estimated only three to 10 Canadians have it. In developed countries, there are an estimated 1,100 sufferers, virtually all of whom will experience severe disability and shortened life spans.
In most countries where Naglazyme is licensed, such as those in the European Union, governments cover the drug’s cost. In the United States, it is largely funded by private insurance.
But in Canada, there is no policy for “orphan drugs” like Naglazyme — medications for rare diseases, the incidence of which varies by country — and no way for people like the McFadyens to afford such costly therapies.
The EU, the United States, Japan, and Australia all have some form of orphan-drug policy. While the U.S. policy doesn’t necessarily provide access to rare drugs, it has been successful in providing incentives to pharmaceutical companies to find treatments for rare diseases.
Whether it involves fast-tracking drugs for rare diseases, providing tax incentives for pharmaceutical companies to develop treatments, or extending market exclusivity for drug manufacturers, these countries have found ways to deal with a problem that threatens small numbers of people in the most devastating of ways.
People with MPS VI, for example, are missing an enzyme called arylsulfatase B, needed to break down carbohydrates known as glycosaminoglycans. The carbohydrate builds up in the body’s cells and many organs are affected.
Signs of the disease include stunted growth, enlarged tonsils and adenoids that cause breathing problems, poor mobility, and dramatic changes in facial features, including a flat nose and large head. Once sufferers reach their teens, they often require heart-valve surgery.
In England, a national advisory group aims to help health-care providers by assuring a cash flow to support rare and expensive treatments. The group has approved the funding of Naglazyme and a small group of patients recently began receiving weekly intravenous treatments in London and Manchester.
“We hope that at a minimum, it will halt the disease process,” said Ed Wraith, consultant pediatrician at Royal Manchester Children’s Hospital, where some of the 12 patients in that city have begun treatment. The drug is given for life. Until Naglazyme became available, there was no approved treatment for the disease.
“Canadian patients with rare diseases are the last people in the developed world to gain access to drugs,” said Kirsten Harkins, executive director of The Canadian Society for Mucopolysaccharide and Related Diseases Inc.
“There are no clear policy guidelines in terms of licensing or funding them in Canada.”
That could change in June, when a report on expensive drugs for rare diseases is to be presented at a meeting of Canada’s health ministers, marking the first time the country has attempted to deal with the orphan-drug issue.
“The important thing for the really expensive drugs is that we have a national approach,” said Bob Nakagawa, assistant deputy minister for pharmacare for British Columbia, whose government is co-chairing the task force in June with Health Canada.
“If [provinces]have different standards, then do we force patients to move to the province that covers them? Is that something we want people to do?”
In the case of the McFadyen family, it isn’t just a case of travelling to another province but of uprooting their idyllic life in the town of Campbellford, Ont., and crossing the Atlantic with young Isaac and their five-month-old son, Gabriel.
Andrew McFadyen, a 28-year-old elementary school teacher in Kingston, and his wife, Ellen Buck-McFadyen, a public health nurse, feel they have no choice but to look for employment overseas to get treatment for their son, Isaac.
“We’re optimistic that even with the limitations he’s had, they aren’t affecting his quality of life,” said Ms. Buck-McFadyen, 28. “We have to get him on the enzyme-replacement therapy, at least to slow down the progression of the disease.”
Because Mr. McFadyen is eligible for British citizenship through his Welsh mother, he only needs to find a job in England and maintain residency for a period of time for young Isaac to receive the drug, where it is currently offered in specialized centres in London and Manchester.
Even though the overseas move is onerous, the couple feels lucky that, unlike others, they at least have a shot at being able to obtain treatment for Isaac.
They are making plans to move to England this summer, taking their infant son and his sandy-haired, high-spirited big brother, Isaac, with them.
“We’re looking for a life boat,” Mr. McFadyen said. “We’re just so sure that we’re going to get him on this enzyme replacement therapy and it’s going to help. If we spent any real time thinking about it, it would be terrifying.”
While Naglazyme can technically be obtained under Health Canada’s special-access program, patients are still faced with having to cover its enormous costs. No hospital or provincial government funds it. Under the special-access program, patients with serious or life-threatening conditions can obtain unlicensed drugs when conventional therapies fail, are unsuitable or are unavailable, so long as no licensed alternative is available.
(One person applied for the enzyme-replacement therapy, but later put the application on hold, said Health Canada spokesman Christopher Williams.)
Joe Clarke, director of the genetic metabolic diseases program at Toronto’s Hospital for Sick Children, and Isaac’s physician, wrote a commentary in the Canadian Medical Association Journal in January, entitled “Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy.”
Part of the problem with assessing these types of drugs is that the diseases are so rare that it’s difficult to run a clinical trial study with enough patients to scientifically prove whether the drug is effective.
“What I was proposing was an orphan-drug review policy,” said Dr. Clarke of his commentary, which listed 19 therapies for various rare diseases and their costs. Such a policy is required, he said, because it is virtually impossible to assess the cost-effectiveness of treatments of rare diseases, using conventional criteria. A key component would be a commitment to evaluate patients through registries to collect clinical information.
Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, said that without a national plan, Canadians are struggling, trying to access treatment for their rare diseases and in many cases, not getting them at all.
Though individual drugs are costly, they don’t necessarily amount to a big financial hit to government, due to the low numbers of patients who require them.
“From an ethical point of view, it’s imperative for the government to fund treatments that are life-saving for which there isn’t anything else,” she said.
Other countries have found that such a policy can prompt pharmaceutical companies to discover treatments for rare diseases. In the decade before the United States created its Orphan Drug Act, only 10 products for rare diseases came to market. Since the 1983 act, 286 products have been created, the Food and Drug Agency reports.
***
At a glance
What: Naglazyme is an enzyme-replacement therapy for people suffering from a rare metabolic disorder known as Maroteaux-Lamy syndrome (known as MPS VI for short). The drug is not a cure, but the first known treatment.
Administered: A weekly infusion, which takes about four hours. The drug is given for life.
Cost: $300,000 to $1-million a year. Cost depends on how much is used, based on weight of patient.
How it’s made: The active ingredient in the drug, galsufase, is a copy of a key enzyme that is missing in MPS V1 patients. The drug is produced by a method known as recombinant technology; the enzyme is made by a cell that has received a gene that makes it able to produce the missing enzyme.
— Lisa Priest
We’re Looking For A Lifeboat July 28th, 2013mcfadyena
The parents of Isaac McFadyen have two choices. They can move to England where a drug to treat their son’s rare disease is funded by government — at a staggering cost of $300,000 to $1-million per patient annually — or they can stay in Canada and watch him be ravaged by the inherited metabolic disorder.
The two-year-old Ontario boy is already suffering from the effects of Maroteaux-Lamy syndrome: a piece of his skull and a portion of vertebrae in his neck were removed earlier this month after they began compressing his spinal cord. Isaac’s corneas are clouding, his forehead protrudes and he has an umbilical hernia.
The only drug available to treat the progressive disease, a medication known by the trade name Naglazyme, is so expensive that even its U.S.-based developer and manufacturer, BioMarin Pharmaceutical Inc., acknowledges no patient can afford it.
“For the average citizen, no matter what country you are in, it’s impossible to pay for this out of pocket,” Steve Aselage, senior vice-president of global commercial operations for BioMarin, said in an interview from Novato, Calif. “For most of the world, you need the government to step up and pay for the product.”
The drug is used to treat mucopolysaccharidosis type VI, or MPS VI for short, a disease so rare it’s estimated only three to 10 Canadians have it. In developed countries, there are an estimated 1,100 sufferers, virtually all of whom will experience severe disability and shortened life spans.
In most countries where Naglazyme is licensed, such as those in the European Union, governments cover the drug’s cost. In the United States, it is largely funded by private insurance.
But in Canada, there is no policy for “orphan drugs” like Naglazyme — medications for rare diseases, the incidence of which varies by country — and no way for people like the McFadyens to afford such costly therapies.
The EU, the United States, Japan, and Australia all have some form of orphan-drug policy. While the U.S. policy doesn’t necessarily provide access to rare drugs, it has been successful in providing incentives to pharmaceutical companies to find treatments for rare diseases.
Whether it involves fast-tracking drugs for rare diseases, providing tax incentives for pharmaceutical companies to develop treatments, or extending market exclusivity for drug manufacturers, these countries have found ways to deal with a problem that threatens small numbers of people in the most devastating of ways.
People with MPS VI, for example, are missing an enzyme called arylsulfatase B, needed to break down carbohydrates known as glycosaminoglycans. The carbohydrate builds up in the body’s cells and many organs are affected.
Signs of the disease include stunted growth, enlarged tonsils and adenoids that cause breathing problems, poor mobility, and dramatic changes in facial features, including a flat nose and large head. Once sufferers reach their teens, they often require heart-valve surgery.
In England, a national advisory group aims to help health-care providers by assuring a cash flow to support rare and expensive treatments. The group has approved the funding of Naglazyme and a small group of patients recently began receiving weekly intravenous treatments in London and Manchester.
“We hope that at a minimum, it will halt the disease process,” said Ed Wraith, consultant pediatrician at Royal Manchester Children’s Hospital, where some of the 12 patients in that city have begun treatment. The drug is given for life. Until Naglazyme became available, there was no approved treatment for the disease.
“Canadian patients with rare diseases are the last people in the developed world to gain access to drugs,” said Kirsten Harkins, executive director of The Canadian Society for Mucopolysaccharide and Related Diseases Inc.
“There are no clear policy guidelines in terms of licensing or funding them in Canada.”
That could change in June, when a report on expensive drugs for rare diseases is to be presented at a meeting of Canada’s health ministers, marking the first time the country has attempted to deal with the orphan-drug issue.
“The important thing for the really expensive drugs is that we have a national approach,” said Bob Nakagawa, assistant deputy minister for pharmacare for British Columbia, whose government is co-chairing the task force in June with Health Canada.
“If [provinces]have different standards, then do we force patients to move to the province that covers them? Is that something we want people to do?”
In the case of the McFadyen family, it isn’t just a case of travelling to another province but of uprooting their idyllic life in the town of Campbellford, Ont., and crossing the Atlantic with young Isaac and their five-month-old son, Gabriel.
Andrew McFadyen, a 28-year-old elementary school teacher in Kingston, and his wife, Ellen Buck-McFadyen, a public health nurse, feel they have no choice but to look for employment overseas to get treatment for their son, Isaac.
“We’re optimistic that even with the limitations he’s had, they aren’t affecting his quality of life,” said Ms. Buck-McFadyen, 28. “We have to get him on the enzyme-replacement therapy, at least to slow down the progression of the disease.”
Because Mr. McFadyen is eligible for British citizenship through his Welsh mother, he only needs to find a job in England and maintain residency for a period of time for young Isaac to receive the drug, where it is currently offered in specialized centres in London and Manchester.
Even though the overseas move is onerous, the couple feels lucky that, unlike others, they at least have a shot at being able to obtain treatment for Isaac.
They are making plans to move to England this summer, taking their infant son and his sandy-haired, high-spirited big brother, Isaac, with them.
“We’re looking for a life boat,” Mr. McFadyen said. “We’re just so sure that we’re going to get him on this enzyme replacement therapy and it’s going to help. If we spent any real time thinking about it, it would be terrifying.”
While Naglazyme can technically be obtained under Health Canada’s special-access program, patients are still faced with having to cover its enormous costs. No hospital or provincial government funds it. Under the special-access program, patients with serious or life-threatening conditions can obtain unlicensed drugs when conventional therapies fail, are unsuitable or are unavailable, so long as no licensed alternative is available.
(One person applied for the enzyme-replacement therapy, but later put the application on hold, said Health Canada spokesman Christopher Williams.)
Joe Clarke, director of the genetic metabolic diseases program at Toronto’s Hospital for Sick Children, and Isaac’s physician, wrote a commentary in the Canadian Medical Association Journal in January, entitled “Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy.”
Part of the problem with assessing these types of drugs is that the diseases are so rare that it’s difficult to run a clinical trial study with enough patients to scientifically prove whether the drug is effective.
“What I was proposing was an orphan-drug review policy,” said Dr. Clarke of his commentary, which listed 19 therapies for various rare diseases and their costs. Such a policy is required, he said, because it is virtually impossible to assess the cost-effectiveness of treatments of rare diseases, using conventional criteria. A key component would be a commitment to evaluate patients through registries to collect clinical information.
Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, said that without a national plan, Canadians are struggling, trying to access treatment for their rare diseases and in many cases, not getting them at all.
Though individual drugs are costly, they don’t necessarily amount to a big financial hit to government, due to the low numbers of patients who require them.
“From an ethical point of view, it’s imperative for the government to fund treatments that are life-saving for which there isn’t anything else,” she said.
Other countries have found that such a policy can prompt pharmaceutical companies to discover treatments for rare diseases. In the decade before the United States created its Orphan Drug Act, only 10 products for rare diseases came to market. Since the 1983 act, 286 products have been created, the Food and Drug Agency reports.
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At a glance
What: Naglazyme is an enzyme-replacement therapy for people suffering from a rare metabolic disorder known as Maroteaux-Lamy syndrome (known as MPS VI for short). The drug is not a cure, but the first known treatment.
Administered: A weekly infusion, which takes about four hours. The drug is given for life.
Cost: $300,000 to $1-million a year. Cost depends on how much is used, based on weight of patient.
How it’s made: The active ingredient in the drug, galsufase, is a copy of a key enzyme that is missing in MPS V1 patients. The drug is produced by a method known as recombinant technology; the enzyme is made by a cell that has received a gene that makes it able to produce the missing enzyme.
— Lisa Priest
We're Looking For A Lifeboat April 29th, 2006mcfadyena
Former Blue Jay Roy Halladay with Isaac McFadyen who was diagnosed with the very rare disease called MPS VI. (QMI Agency)Jeff Gard, QMI Agency
