December 26th, Globe and Mail

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."

Elizabeth Witmer - Politician, Mom, Life-Changer

Well, Isaac's treatment this week was quite an adventure! It all began when Ellen took Gabriel into the doctor for his chicken pox vaccination on Monday. The doctor looked at Ellen and said that Gabriel currently had the chicken pox and he couldn't get the vaccine. Who knew that he had the chicken pox? In fact, he had 5 spots and they had just shown up that day.

So, this immediately posed a problem for Isaac's treatment. Ellen usually takes Isaac and Gabriel to the hospital with her mom. This way, Gabriel can still be with mom and Ellen and Isaac get a chance help while they are at the hospital. Plus, Gabe is still breastfed and won't take a bottle of EBM. With chicken pox, Gabe couldn't come to the hospital, which meant that I had to take the day off to take Isaac to treatment. And it's hard to take time off.

Anyhow, treatment went really well and I really enjoyed my time with Isaac at the hospital. Even when Ellen called me every 1/2 hour to give me a tip on how to do things while we were there! I made sure to take a lot of photos so I could document the complete day of treatment for my next blog update.

The best thing about the day, however, was the visit from Elizabeth Witmer (pictured with Isaac above) and her assistant, Erin Greatrix. Elizabeth is the MPP that really made treatment a reality for Isaac. She's an incredibly caring and compassionate person and truly believed in Isaac and our hope to get provincial funding for treatment. When Erin told her about Isaac, she agreed to meet with me almost immediately. She fully understood that we were running out of time to get Isaac started on treatment and moved immediately to confront the government about the lack of funding available to bring hope to Isaac.

While the Liberals did nothing to show their support for Isaac, and while the Liberals showed no remorse for our family situation, Elizabeth came to the rescue. She continued to push for our cause and brought Isaac up in the Legislature twice. And if we didn't want her to say something publicly about Isaac, she respected our wishes. And when we sent reporters her way, she made time for them over and over again.

Elizabeth showed how incredible she is is by taking the time to visit Isaac during one of his treatments. She cared how things were going. She immediately noticed all the changes in Isaac and recognized how important it was to see the how wonderful and life-saving this treatment truly is for Isaac. Moreso, she wanted to show that she appreciated the efforts that our family put towards saving our son. This is more than what George Smitherman has done and more than what our local MPP, Lou Rinaldi (another Liberal, BTW) has done.

Our family is indebted to Elizabeth for what she has done for us. She's changed our lives immeasurably and has given Isaac hope for the future. That's all any parent can ask for - Hope for their children's future. Although we can never repay her for her kindness and support, I hope that she'll be available for us to send her a card when Isaac graduates from highschool. And I hope she'll be around for us to send her Isaac's wedding photo, and the announcement of the birth of his first child. And I truly hope she'll be available to speak at our celebration party when we make the announcement that we've found a cure for this horrible disease. No matter what the future holds, we have one for our son thanks to Elizabeth.

Take Care,
The Isaac Foundation

DVD Now Available on YouTube

We've uploaded our DVD, created by my brother Cameron, to the popular YouTube website. It's also streaming above. Please stop by the site to watch the video. As well, please send the link onto all of your friends and ask them to send it onto their friends. We want to get this video to as many people as possible.

The DVD contains about a 3 minute slideshow of Isaac and our family's photographs and then details information about Isaac, his disease, and our Foundation.

Biomarin, the drug company that I've spoken of that makes the ERT that Isaac receives on a weekly basis, still hasn't seen the DVD. Perhaps they'll watch it while on the site and garner an appreciation of the amount of time and effort and resources it took for us to get their product available and funded in Canada. Perhaps they'll realize how precious the children are that are affected by this terrible disease and they'll work hard to ensure that all children have access to the treatment, regardless of their country of origin or financial assistance status. Or perhaps, as I expect, they simply don't care unless there is an assurance they'll receive their financial dues.

Take Care,
The Isaac Foundation

Heart Prognosis and A Visit From Some Friends (well...Family)...

Hello All,

We had our appointment at Sick Kids' today to track the heart murmur that's developed in Isaac. We found out that there is some thickening of Isaac's mitral valve and thickening in his aortic valve. Essencially, this is the build-up of GAG's that we've been expecting to take place.

Right now, there is not concern except for the fact that it will need to be watched continually for changes in the condition. As well, he'll have to have some heart meds before surgeries. The cardiology said that it's not severe right now but it's also not trivial.

The other minor concern, and something that we'll have to monitor as well, is the finding that the right ventricle chamber of his heart is 10% enlarged. The cardiologist assumes this is taking place because of the back flow into ventricle because of the problem with the mitral valve. If the chamber continues to become enlarged there will be more cause for concern.

Isaac did very well during his echocardiogram. The hospital was thinking that he might need t be sedated because the procedure takes about an hour for a full scan. Due to airway concerns, we decided not to use sedation and Isaac was awesome! He did the whole echo like a trooper and even helped his new friend, "Dr. Carlos." Carlos did a great job with Isaac and got things finished quickly. We were so proud!

The pictures attached are of Isaac's friend, Trey, who happens to be a child affected with MPS II, or Hunter's Syndrome. We met the family at the MPS conference in Collingwood in the summer. They are visiting us after a long and difficult trip to Duke University in North Carolina where they were having tests done that are to determine whether Trey needs a Cord Blood Transplant. They have stopped in to visit us for a few days before they head back to their home in BC.

Trey and Isaac play really well together and they love to spend time together. Trey's parents, Ryan and Deb, are wonderful people as well. We've only spent a few days together in total, but they already feel like close family members. They also have a little boy, Avery, that is Gabriel's age.

Ellen and I can't imagine the difficult times that Ryan and Deb are facing right now. The decision to have a Cord Blood Transplant can't be taken lightly because of the incredible risk involved. Please drop by their website (listed on the right) and send them some support by way of signing their guestbook. It's going to take a lot of hope, determination, and love to beat this disease and they need all the help they can get right now.

Finally, Elizabeth Witmer, our wonderful MPP that has changed the course of Isaac's life, is hoping to stop by to visit Isaac during one of his infusions. We can't wait to see her! She's a tremendous woman, incredibly compassionate and dedicated to her provincial constituents. She's truly made a difference for us and we can't think of how to thank her properly. We'll be sure to upload a photo of her with Isaac once we get to see her again.

Take Care,
The Isaac Foundation

Halloween, An Inspiring Group of Kids, and What Goes Up...

Well, it's been a busy week, to say the least. Isaac and Gabriel spent Halloween at the hospital while Isaac got his treatment done. We made sure that we went out trick-or-treating the night before and visited Nanny and Poppa and Great-Granny and Great-Grandpa. The kids had a great time, and they were both so cute! There was a bit of trick-or-treating done at the hospital as well, which is great for the patients at the hospital. What a wonderful place...

We also heard some great news from our friends in Kansas regarding their son Holden and his quest for ERT. They heard at the end of the week that they do qualify for ERT for Holden and will begin soon. What a relief for the family! We fully remember getting the great news and how anxious we were to start. Please drop by their site (listed with our links on the right) and send them a quick note of support and congratulations.

While we're thrilled that Holden will be getting ERT, it really puts the drug company's (Biomarin) priorities in perspective. The Guifoyle's got their diagnosis and were contacted by the drug company regarding treatment. They also had a case-worker assigned to their family and had help applying for funding. Excellent support from Biomarin, which is exactly what families need when they are going through such a difficult transition in their lives.

Rewind to our diagnosis and the NON-help that Biomarin gave to us. We made contact with the drug company to ask for support in having Naglazyme approved for use in Canada and got no assistance. We pleaded to access the drug at a reduced rate because we were going to bankrupt our family and friends and anyone we could think of. Their cold response was "that would affect our price in Canada." In essence, no help from Biomarin to get the drug approved, no help from Biomarin to try to pay for treatment ourselves, and no assistance in our fight with the provincial government to get treatment funded for Isaac. In our view, this is completely wrong and truly sheds light on Biomarin's goals -the bottom line. In a country where there is a reasonable assurance that they will receive funding for providing this ridiculously expensive treatment for affected children, they will provide as much assistance and support as needed. In Canada, where there is no application pending for the drug to be approved and there is no assurance that funding will be forthcoming by governments, officials at the drug company disappear. They don't care about families and their struggles unless they are going to be paid for providing treatment. Sickening, truly sickening. What Biomarin should be doing is assisting all families and all affected children. Set up a compassionate program for those affected and where funding isn't going to be forthcoming. At a million bucks per child per year, they're going to be making enough money. Perhaps they can make their money AND feel good about the children they are helping. Lets not let these kids die because of financial considerations.

Onto other matters and what goes up, must come down. Things have been going so well with treatment and we're seeing a lot of changes in Isaac. However, got a bit of troubling news recently that reminds us that we're still fighting a progressive disease and we have to find a cure. While at the hospital last week, Dr. Clarke discovered a prominent heart murmur in Isaac and noticed that his heart was beating fairly fast. We quickly went for a chest X-ray and an ECG. We see a cardiologist on Wednesday and have an Ecocardiogram scheduled for earlier in the day. Hopefully this will prove to be a non-issue. But it again proves how incredible The Hospital for Sick Children is. They got Isaac in for tests ASAP with very little waiting period. We see a specialist a week after the initial concern was discovered. We know of and read about many families that have to wait a lot longer to deal with these issues. We're lucky to have Sick Kids' as our primary care center for Isaac.

The Isaac Foundation would also like to thank a group of grade 6 girls at Winston Churchill Public School in Kingston, Ontario. Last year, the girls were assigned a project that asked them to find a way to make the world a better place. They choose The Isaac Foundation as their main focus and worked hard to raise money to help us find a cure. They met every Friday to go over ideas and at the end of the school year, they presented the Foundation with a cheque for $500! This September, the girls approached me to tell me that they are still meeting weekly and they are still determined to help us find a cure for Isaac and other children affected with this disease. On Halloween, they went out canvassing in support of the Foundation and we want to thank them for their continued support. It's amazing how truly empathetic these kids are towards Isaac and his battle!

Take Care,
The Isaac Foundation

New Friends, A Touching Magazine Article, and More Changes...

A few days ago, we received an email from a family in the US. Unfortunately, their son Holden has just recently been diagnosed with MPS VI. Holden is Isaac's age and will begin ERT very soon, which is a bright light for the family. They also have two other children.

We started The Isaac Foundation in order to fund innovative research project that aim to cure the disease, but we also wanted to bring affected children and families together. This is our first real contact with another family that is going through the same heart-wrenching ordeal that we are. I hope that our experience can help them during this tough time.

We fully remember the early weeks after Isaac's diagnosis...What an awful moment in our lives. Perhaps, as the Foundation grows, we can work to connect all families affected with this terrible disease and all work towards finding a cure. It will happen in Isaac's lifetime; I'm sure of this.

Please stop by Holden's website at www.caringbridge.com/visit/holdenguilfoyle and leave them a message of hope for their son and their family.

We also have friends from BC coming for a visit in early November. They have a child that has been diagnosed with MPS II and are wonderful people. Their son, Trey, and Isaac hit it off very well at the MPS Conference that we attended in Collingwood.

On another note, a very touching article about Isaac and the Foundation will appear in the next edition of Kingston Life Magazine. I'll make sure an online version is available, once the story appears. On the ERT front, Isaac's latest measurements have shown that he's grown an inch since treatment began 7 weeks ago! He hasn't grown in the past 8 months and now he's up over an inch already. He has his hernia repaired on November 16th. His breathing is quieter, his skin is softer, his hair is softer, and he appears to be moving around a lot better. Incredible!

Finally, we had a meeting with Susan Henry and Janet Grace, real estate agents for Royal Lepage in Kingston, Ontario. They would like to help us find a cure for Isaac, Holden, and others affected with this disease and have decided to donate a percentage of their commission to The Isaac Foundation. They very generous and thoughtful people. A link to their site can be found with the other links on the right. Please leave us any comments you can. And don't forget to drop by Holden's site.

- The Isaac Foundation

Stomach 3cm Smaller, Isaac 1 cm Taller!

Four treatments now and things are still going well. They measured Isaac's stomach and it is 3 cm smaller, which means his internal organs are definitely shrinking down! And he was measured at 1 cm taller as well. How exciting!

We just got back from a cheque presentation at RONA, Isaac's second home and favourite place to visit. They've raised over $3000 for The Isaac Foundation! Everyone at the store is always so nice to our family and the LOVE Isaac. They truly are like family. It really is great to live in the community. They've given us such support during a tough time and have treated our son with care and compassion. We owe them a lot. An article will appear in the next edition of The Brighton Independent.

Please feel free to leave comments on any of our blog updates. There are spots at the bottom of each entry for you to post your comments. And please pass our blog on to everyone you know. Ever bit makes a difference.

Take Care,
The Isaac Foundation

We're Seeing Changes!

Hi Everyone,

Well, we've had three treatments so far and things are going very well. Isaac tolerates getting hooked up to his port extremely well and spends his time watching DVD's or in the playroom during the 5 hour process. The nurses on the floor are great!

We're already seeing changes! His internal organs have shrunk down and his stomach isn't as distended at night as it used to be. I think he is breathing quieter at night, although Ellen isn't so sure. Yesterday, long time friends of ours commented that his features seemed to be less course. How incredible!

We are indebted to Elizabeth Witmer for her unrelenting efforts to get Isaac on this treatment. It has really restored our faith in politicians, knowing that they truly do work hard to represent their provincial constituents. She is a wonderful person. We're not sure how to thank her fully for the way she has changed our son's life.

Our issues with the IGT department at Sick Kids' has been looked into by the patient advocate department at the hospital. Not sure what will come of it but we are hoping other families won't have to experience the difficulties that we had to. Families have more to worry about with their sick children and shouldn't have to deal with problems with their hospital.

Keep watching for Isaac's updates and news about upcoming Foundation events. We're fortunate to have many school groups doing projects on The Isaac Foundation. We're thrilled that Isaac has had such a positive impact on these students lives and they want to help spread the word about the Foundation and our quest for a cure. Every bit will help!

On that end, we are getting close to being able to provide our first research grant into MPS VI research. We're talking with Dr. Clarke about where the innovative research is being done and what ideas look most promising for our son and others affected with this disease.

If you have any ideas for future Foundation events or would like to host an event, do let us know. We're happy to help with anything...

Take Care,
The Isaac Foundation

Treatment Continues

Hi All,
Just a quick post to let everyone know that Isaac had his second treatment yesterday and things went very well. What a huge relief!

Dr. Clarke, Isaac's MPS Specialist, came in to oversee the infusion and chat with Ellen. We talked to him about the entire process and got his sen

se of where the innovative treatments for this disease are heading next. He will prove to be a valuable source of information for the Foundation as we begin to search for places to send our research dollars.

Hope you like the new version of the News Section. Using this blog service, it will make it much easier to update and maintain.

Take Care,
The Isaac Foundation