Myozyme

Lumizyme “on the go”

In October I took a 3 week vacation, one my friend Leanna and I dubbed our Epic Disney Vacation. We spent a week in Anaheim, California exploring the Disneyland Resort, and then took a two week Disney cruise to Hawaii. My Lumizyme infusions are scheduled for every two weeks, so obviously some arrangements would need to be made. I become terribly fatigued and my muscles start to ache if I miss a treatment. It is a huge set back in my crusade against Pompe when my treatment schedule is interrupted.

I started working with my Case Manager at Genzyme months in advance to arrange a Lumizyme infusion while I was away from home. My infusion needed to be scheduled for the first week of my vacation because that was the only time I would be “on land” long enough for it to take place. Dr. Byrne asked where I was staying in California and found a colleague who worked close to Disneyland. Dr. Kimonis at the University of California Irvine agreed to take me on as a patient and supervise my infusion.

My Case Manager worked with the Case Manager for the Irvine area and lined up all the approvals with the hospital and my insurance company. I filled out my paperwork a few weeks before we left on our trip and confirmed my appointment. My first “on the road” infusion couldn’t have gone smoother. Everyone at UC Irvine was so helpful and their infusion chairs are the best I’ve sat in. Everything is push button, to recline, or put your feet up, watch TV, or call your nurse, you just push a button on a single remote. The chair even had heat and massage features.

I do not think this is something that could have been pulled off on short notice. It took a lot of people working together to make it happen. For that, I am very grateful. Had this California infusion not been arranged I would have gone about 4 weeks without a treatment. That would have left me feeling pretty cruddy during the cruise.

With careful planning it is possible to make this sort of arrangement for your infusion. Of course it depends on your insurance, where you are going to be, and probably a few other factors, but I believe it is worth trying if you want to travel and not miss an infusion. Be sure to give your Case Manager plenty of notice to help make arrangements for an infusion “on the go.”

Disneyland, October 2012 with my friends Robyn, Elysse, and Leanna. I’m full of energy because of my Lumizyme on the go!

The Kiwi Report

After nearly 30 hours of traveling, finally arriving in Wellington, New Zealand!

I’ve spent the entire week trying to recover from jet lag from my 30 hour journey back from New Zealand. Twice this week I have watched the sunrise. Between the long flights, long layovers, and of course the time difference, I have been struggling to get back on a normal schedule. But it was all worth it because I got to spend in a week in New Zealand playing a small part in the fight for Pompe patients’ right to receive enzyme replacement therapy (ERT).

In New Zealand they have a government run department called PHARMAC. Since New Zealanders are “entitled” to “free” health care it is important to keep the costs down so treatment is available to most of the people. There are 4 million people living in New Zealand and 5 of them are currently dying from Pompe Disease, even though there is an effective treatment available – ERT. PHARMAC feels this treatment is too expensive, so the Pompe Kiwis go without. Applications made by patients and doctors for the approval of ERT have been denied with PHARMAC stating that although patients would probably benefit from the treatment, the price is just too high.

However, I believe the public feedback PHARMAC received from stating the price was too high forced them to retreat and bring the question of efficiency to the table. The ugly public backlash and slew of angry letters has mysteriously gotten PHARMAC to now say they are not sure how effective the treatment really is, that there is not enough evidence proving it does any good. They are now saying that what improvement may be experienced, is just not enough to justify the cost. I feel they know this treatment works, but had to bring cost back into play to justify denying this treatment to the patients, as placing the sole reason for denying treatment on the cost proved to be very detrimental to PHARMAC and the government – in an election year.

With a member of the New Zealand press in front of Parliament's famous Beehive building.

I was asked to join Lysosomal Diseases New Zealand’s (LDNZ) campaign to try to once again get funding for ERT approved. The day after I arrived I met up with some folks from the LDNZ, the Muscular Dystrophy Association, and 3 of the local Pompe patients. We headed up to Parliament where we met up with a journalist from Radio NZ. We passed through security and approached the reception desk. John, from the LDNZ put in a request to meet with Prime Minister John Key. During his last campaign, John Key, had promised to make orphan drugs accessible to New Zealand patients. That hasn’t happened and he is on the eve of another election, so it seemed like a great time to ask him about this seemingly forgotten campaign promise. We knew the Prime Minister was not in the building because he was attending a funeral elsewhere. It was our hope that a member of his staff would meet with us. The receptionist told us that a member of the Prime Minister’s staff would be down to meet with us shortly. We waited in the lobby and the reporter from Radio NZ interviewed us individually. Note: she kept her recorder running the whole time and captured everything, including the receptionist confirming with the Prime Minister’s office that someone would be down to meet with us. After waiting about 20 minutes or so, a security officer came over to speak to us. He informed us that no one from the Prime Minister’s office was coming to meet with us and that we had to leave. What? We were not causing a scene and this was a public building…oh, and we were just told that someone was coming to meet with us. The security officer was adamant that no one was meeting with us, and that we had to leave immediately. It became a sort of stand off between us and the young security guard. We were in a public building and we did have an appointment in a few hours with a member if the opposition party, Grant Robertson. The security officer then made some phone calls and came back to tell us that Grant would see us right away. We were escorted out of the Beehive lobby and into the adjoining building where Grant met with us.

From left to right, Laurie (patient), Grant (MP), Frieda (patient), Jenny (from LDNZ), Marty (from the MDA), Me, Dean (patient).

Grant is the MP for Wellington Central, Spokesperson for Health and Associate Spokesperson for Arts, Culture & Heritage. Grant listened to us as we relayed the mornings events and he apologized for how we were treated by the Prime Minister’s office. He was very interested in hearing how I had benefited from the treatment, how it was administered, and how much trouble I had getting my insurance to cover it. I told him how over 50 other countries have found a way to make this treatment available to patients. Grant encouraged us to continue to try and get in with the PM’s staff, specifically his Health Advisor. If Grant’s party were to win in the election, he would most likely become the new Health Minister, replacing Tony Ryall. He confirmed our theory that Tony Ryall couldn’t really do anything about the matter, that change would have to come from either PHARMAC or the Prime Minister as the Health Minister is bound by legislation that doesn’t give him the power needed to approve this treatment.

Radio NZ aired the piece about us getting turned away at Parliament on their noon broadcast. This immediately got us more media attention. The next day we met with producers from two television stations. They filmed us outside the Parliament building which brought on the attention of several security guards, but no one asked us to leave. They interviewed each of us, and again a special interest was taken in how well the treatment is working for me.

That afternoon LDNZ and the New Zealand patients hit the phones and started talking to their local media contacts about the situation. I called PHARMAC and tried to secure an appointment with their Medical Director. After talking to several people in his office, his assistant called Jenny from LDNZ back and said he would be willing to meet with me – but that they are aware of what we are doing with the media and we are not to allow the media to follow us. We agreed and the meeting was set up for the next morning.

Jenny and I arrived at PHARMAC several minutes before our meeting and waited. I was armed with my own medical data as well as data from two other Pompe patients who are being treated with ERT. The data showed stabilization and improvement of our respiratory functions. I also printed out a copy of the LOTS study.* Despite several warnings from others who had encounters with him, PHARMAC’s Medical Director Peter Moodie was very personable to us. Jenny was very surprised. I detailed how poor my health was and how fast I was dying before treatment and how much my condition has improved with treatment. Even he said my improvement was remarkable. I gave him my test results along with those of the two other patients which he showed a great deal of interest in. I stressed that this treatment needs to be approved for the New Zealand patients as soon as possibly, because they will just continue to decline and ultimately die of Pompe Disease without it. He asked if I had known about any problems in America with getting insurance to approve it, I told him that sometimes the insurance company would just need a little persuading from the prescribing doctor. For the most part, American patients can get access to the treatment. He asked if anyone was monitoring my progress as part of a long term study – yes, Dr. Byrne and the University of Florida will study me for the next 5 years at the very least. I told him that the New Zealand patients cannot afford to wait for these long term studies, that the long term studies in mass don’t exist, “I am the long term study.” He tried to express his understanding, but that he had a responsibility to all the people of New Zealand. Basically, he couldn’t blow PHARMAC’s budget for just a few people. It made it sound like Allyson, Frieda, Dean, and Laurie were just casualties of war. I told him that he better figure out how to fund treatments for rare diseases because more will be coming to market and it is inexcusable for the government to continue sentencing their people to death over a price tag. He thanked me for my time and for sharing my story with him. He invited me to send whatever data I could gather to him to help prove that ERT is effective. When I arrived back home, I sent him another publication sent to me by Dr. Byrne along with a couple of letters supporting the benefits of ERT from two doctors in England. PHARMAC only responds to data, and unfortunately there is not a whole lot out there, but I know that is not the real issue – the real issue is cost.

With all the money they spent on Happy Feet the penguin and not to mention the Rugby World Cup – don’t cry broke with me then go on a shopping spree with tax payer money, only to refuse to spend tax payer money to save the lives of those tax payers. It became very clear during the course of this meeting that PHARMAC’s model is not set up to process high cost treatments for rare diseases. They do an excellent job at keeping the cost of drugs down for the masses, such an excellent job that other countries are looking to copy their model.

What needs to happen is either the Prime Minister needs to overrule PHARMAC’s decision to decline ERT, like he did with Herceptin (the breast cancer drug) or a new department needs to be set up to deal with treatments like this.

So where do we go from here? We will continue to play PHARMAC’s game and supply them with the data as it becomes available. LDNZ will ride the media wave we started and continue their campaign in the media and with Parliament, using the election to put pressure on the Prime Minister‘s office. Angry letters to PHARMAC and the Health Minister will be useless as neither can approve funding under the current model. Plus, PHARMAC is only set up to make decisions using data. I took 26 letters from the patient community supporting ERT and it was like I was offering to put hieroglyphics in front of these people. They don’t understand hieroglyphics, they only understand data. A new department for handling this type of situation needs to be formed, this is also within the Prime Minister’s power – and quite frankly, his responsibility to the people he represents as this was a campaign promise. If the Prime Minister continues to ignore his own campaign promise, then we need to take the long way around – the slow and steady route of getting a new department formed by way of a Member of Parliament, (like Grant, for example) sponsoring a piece of legislation and having the other Members vote on it.

I will gather all the media links from my trip and post it in one spot. I will also write up an entry on the non-business related activities I enjoyed while in New Zealand, you know the fun touristy stuff!

 *From the New England Journal of Medicine, Vol. 362, No. 15, April 15, 2010, A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease, A. T. van der Ploeg and Others.

Easy (well, easier) IVs

 

Needing an IV infusion every two weeks for life makes the subject of IVs and ports constant chatter in the Pompe world. Like most debates there are those for and against ports. On infusion days many of my Pompe friends brag about a “one stick” day or vent frustration over a “3 or more sticks” day. No one likes getting stuck with a needle, especially over and over again, which is often when the port verses no port debate arises. I come down strongly on the “no port” side as I’ve already had enough slice and dice done on my body for this blasted disease and I really don’t mind the needles – as long as I don’t have to watch. I do everything I can to prepare my body for a “one stick” day. 

If you’re having trouble with getting “stuck,” before succumbing to “port pressure,” why not give Gatorade a try? Cheers!

The best thing anyone can do is to stay hydrated, which includes not only drinking loads of water, but avoiding alcohol and caffeine. Recently I’ve started incorporating Low Calorie Gatorade into my pre-infusion ritual. I use low calorie because it contains less carbohydrates and sugar – which in my head equals less glycogen build up. I drink at least two servings the night before my infusion and two more servings the morning of. It seems to help reduce the amount of sticks because along with the electrolytes for hydration, Gatorade is loaded with sodium which helps plump up the veins.

Visiting Genzyme: WOW!

 

 

Genzyme - nice huh?

Last Thursday my alarm went off at 3am – yes 3am. I got myself up and drove to the airport because I had an early morning flight to Boston. I was invited to be a guest patient speaker at Genzyme’s Annual Marketing Meeting. So even though it required a 3am alarm, I was thrilled. I was so excited to be heading to the home of where my life saving enzyme replacement therapy was developed and to meet even more of the wonderful people at Genzyme.

It was a quick two day adventure. They packed a lot of activities in those two days and even managed to get me in and out of Boston between serious snowfalls.

My fabulous tour guides in Genzyme’s lobby.

After being picked up at the airport I was whisked away to Genzyme Headquarters for a tour. I was met by Kathleen Coolidge from Patient Advocacy who spent the entire day with me. An employee volunteer gave me the grand tour of the building – which is beautiful and amazing in addition to being green. Lots of natural light, water features, live plants – after working in a windowless basement under florescent lights for years, I’m not ashamed to say I would love to work in that building.

It was then off to the Allston plant where they manufacture two enzyme therapies and where Myozyme was created. I had lunch with several Genzyme employees who are currently training for the Boston Marathon. Each of the runners is paired with a patient who they will “run” for to help raise awareness for rare diseases. Angela DeLucco from Employment is running for me. I think is so amazing that these employees are out there on their own time, pushing their bodies to limit, running for those of us who can’t. If you’re in Boston on April 11, 2011 be sure to cheer them on!

After lunch I was treated to a tour of the facility, where they actually make the drugs. It really is a complex and fascinating system and it takes a long time from start to finish. It is pretty unbelievable to stand next the huge containers used to make the drugs and imagine when all is said and done, I’m hooked up to a little IV bag at the end. It really makes you appreciate the long journey the meds make before reaching the patient.

After my tour it was time to give a speech to the Allston workers. I was scheduled to speak and share my story during a town hall event. There was an incredible turn out, I must say, I was a little worried I would be addressing an empty room – but it ended up being standing room only! I took them through, what my local rep Steve has deemed, my diagnostic odyssey. From my medical history, to my first symptoms, to my misdiagnosis, to how bad things got for me physically, to starting Lumizyme and how it has saved and improved my life. Everyone was so engaged and asked such great questions. I am very grateful to everyone for the opportunity to meet with these folks, but the most touching moment was when a man from the audience took the mic to make a comment, something to the effect of, “I just work in research, I’m not out there saving lives, but I’m just so grateful that you would come and speak to us, that I had the opportunity to hear how well you’re doing.” I made sure to not only thank him for his kind words, but to remind him that he is part of a team and people depend on him to do his job, therefore it is important.

View from my hotel room. Yes, it was cold outside but not as bad as I thought it would be.

After the Q&A session was complete it was time to go check in at the hotel. I unpacked and took a quick power nap because it was then time to meet some more Genzyme folks in the lobby before heading to dinner. I had a nice quiet dinner with Kathleen, Angela, and Maureen Stellwag from US Marketing. Maureen had reached out to me last month and invited me to

Dinner with the girls! Kathleen, Maureen, and Angela - and that’s me in front.

the meeting, so it was nice to have some time to get to know her. She is a Disney fan on top of working for Genzyme, so clearly she is an awesome person! After dinner, it started lightly snowing, not enough to be a problem or even make it really cold, it was just pretty. It had been a long day so I pretty much collapsed when we got back to the hotel, luckily I didn’t have to be downstairs to give my presentation at the meeting until 10am – thank you Maureen, I needed the sleep.

Lunch with my Genzyme peeps before heading to the airport and ditching the snow.

Maureen introduced me and played the video clip from Ivanhoe broadcasting and then I shared my story with another roomful of Genzyme employees. Again, I was greeted with earnest attention and genuine interest followed by a Q&A session. Everyone was so kind and complimentary, but honestly – it was my pleasure. After all, without them I wouldn’t have been able to literally stand there and speak for that long. My legs and respiratory system would have been too weak to complete that task without my Lumizyme treatments.

One of the questions I was asked I could use some input on answering. I was asked what could Genzyme do better for their patients? The only thing I could come up with is having them develop a better way for the whole patient community to interact and support one another as there are a bunch of fragmented groups out there. But if Genzyme created a place, because let’s face it, no matter where you are in the world, if your life has been touched by Pompe, you’re hopefully in contact with Genzyme.

I had a difficult time coming up with anything else because my immediate team, as well as anyone I’ve ever been in contact with has been beyond amazing. However, I have heard that not everyone is as lucky as I am, so I’d like to know what you think.

What can Genzyme do to improve patient relations? You can leave me a comment and I will email you back privately, and if you’d like me to keep your suggestions confidential I will. Any organization really does want feedback, especially about areas where they can improve. So if something has been on your mind, please let me know and I’ll deliver this information to Genzyme.

Everything Changes

 

The leaves changing colors during a recent trip to Washington DC - see change can be beautiful!

The weather changes with the seasons (in most places), children grow up, Bath and Body Works discontinues your favorite line, and the word Pompe Disease enters your vernacular essentially changing your life forever. When Pompe enters your world, whether you are the patient or a friend or family member who has agreed to brave the journey with one of us – everything changes.

Suddenly, (for many who have this option available) every other week finds you hooked up to an IV for most of the day receiving a live saving drug – Myozyme or Lumizyme. For some it means having a port surgically inserting into your chest. And for other is means relying on a machine to help you breathe. For me, it means a adhering to a strict high protein diet and physical therapy regime. It also means sharing my story here and in the media and to whoever will listen – even if it means beating down doors, holding people down and forcing them to listen.

Change can be scary – in any situation. Fortunately, I usually adjust well to change as it is all I’ve ever really known. I’ve learned to roll with the punches and pick myself up (literally and figuratively), dust myself off, and try again. I’m not as strong and as fearless and I may sound. I have moments where I do want to give up, where it just seems too hard and incredibly unfair, but luckily they are just moments and they pass. These moments are important because they help me realize that this battle is hard, and it is ok to become frustrated. Just as long as I don’t stall out in a moment of despair, but instead regroup and focus on what is really important. Often these moments of frustration come when I’ve lost focus of the goal – with Pompe, I’ve found that you can never take your eye off the ball.

They say what doesn’t kill us only makes us stronger. Well Pompe is trying to kill me, so does the fact that I’m not going to let it and that I choose to fight back make me stronger? So, is this a battle worth fighting? Is it a battle that any of us can win? I think so and believe it is worth fighting. Fighting to regain as much strength and independence as I can. Fighting to raise awareness. Fighting to develop new treatments and even a cure.

Did I mention that I’m incredibly stubborn? That helps A LOT!

Some people go through life not knowing where to focus their efforts or what is really important – it is a no-brainer for me. I fight against Pompe, for myself and for others. No matter how hard it gets or how the battle changes, there will always be warriors and heroes out there fighting the good fight. Whether it is a parent working a second job to help pay the medical expenses, or the sleep deprived scientist working in the lab developing a better treatment, or the Pompe patient working through the pain and weakness in physical therapy – there will always be resistance to this horrible disease that seeks to destroy us. The fight may at times seem lonesome, but there are people all over the world fighting their own personal battle against Pompe and from one another we can draw strength, especially during those moments of doubt that we all have.

Like I said, change can be hard. It can be frustrating. But we need to adjust to new things otherwise we’ll lose the battle. For example, I have to change insurance plans in a matter of days. This is more than just a hassle with paperwork, it is going to cost more – a lot more. My premiums will be almost double, my co-payments will be double, and my deductible is increasing considerably. Technically my insurance company should allow me to stay on their plan for 11 more months, but due to a nightmare of paperwork bureaucracy and misinformation they have decided to drop me. Now we all know they could do the “right thing” and allow me to stay on their plan for another 11 months, but insurance companies hardly ever do the right thing for patients, they do the right thing for the bottom line. And having someone with Pompe disease on the plan is terrible for the bottom line. Did I want to tell them to have a Merry Christmas and a Happy Go To Hell? Of course! But that wouldn’t have solved my problem. Luckily I have a wonderful Genzyme Case Manager who is helping work through all the nightmarish paperwork that comes along with signing up for a new plan with a pre-existing condition. She assured me I had nothing to worry about. So, while this change – in a word: sucks, there is hope out there for me. Somehow it will all work out and I’ll continue to receive Lumizyme which will allow me to fight the good fight.

Everything changes, and with Pompe as part of the equation things can change quickly and dramatically. Life with Pompe is never dull, and no matter how it may feel at times – you’re never alone. There is a wonderful support community out there between the other patients and families, the folks at Genzyme, and the dedicated doctors and nurses – there is always someone you can reach out to, you just have to be willing to reach out. And please remember to pay it forward to another lost soul when the opportunity presents itself, and it will present itself.

We can’t always control the things that change in our lives and there is no sense it stressing out about the things we can’t. Instead focus that energy and passion towards the things you can do something about.

And in the spirit of change… I decided it was time for a change – a change in my hair style! Hey, I said we need to focus on what we can change and didn’t say it couldn’t be (at least every once and awhile) superficial! Wink! Wink!

Update on Brad

 

Back in August, I introduced you to my fellow Pompe warrior, Brad Crittenden. Recently, Brad shared some very exciting and encouraging news with me and has agreed to let me publish an update about the progress he has made since starting enzyme replacement therapy (ERT).

Because Pompe can attack the diaphragm and other muscles needed for breathing, patients undergo pretty regular pulmonary function tests so the doctors can monitor just how low our pulmonary function is getting and to let us know when we’ll need to go on a ventilator or other assisted breathing device. Or at least that is how the story went in the past, before ERT was available to us. Now, Pompe patients are tearing up the old progression path of Muscular Dystrophy and paving a new path. Some of us are getting better and stronger! Brad is one of those people who is showing improvement after only a few treatments!

Here, in his own words, is Brad’s update:

A funny thing happened the other day. I had a pulmonary function test that was actually better than the previous one! I honestly can’t remember the last time that happened. In the world of Pompe, we get used to the disease chipping away at us. This time, that didn’t happen. What changed, you might ask? Three months of enzyme replacement therapy!

I had been eagerly waiting for this test. Each time I went in for my infusion I was feeling a little bit better. The last couple times I was able to recline in the chair and still breathe, which I couldn’t do before. Even my nurse has noticed that my oxygen is better than when I first started ERT.

I arrived early for the test. Okay, I was a lot early but I was feeling pretty good about this! First was my volume. I knew as soon as I saw the first number that it was going to be a good day. I was up 7% and I’m thinking, “Holy Smokes, that’s even better than I was hoping!” It’s not as good as I was last fall, but sure better than 3 months ago. Then we did my inhaling and exhaling pressures. I was blown away (pun intended!). One was the same as 18 months ago and the other was even better.

We had one more test, my volume lying down. This is the one that I really don’t like because I just can’t breathe enough. Last time it was only 27%. Since I use a bi-pap when I sleep, I had no idea what to expect. So, I’m flat on my back and I do the first blow. The tech asks me if I’d like to take a break between the three reps and my inside voice said, “Heck no, you’re not getting me down here again!” My outside voice said, “I’m okay, I can do it”. So I do it two more times and sit up with anticipation. I got 39%! Now if I were in college, 39% would not look so good. To me though, it was like a home run! That means that my lung volume when lying down is almost half again what it was three months ago. That seems like pretty good news.

Brad's PFT test results = ERT works!

So now I’m confused. I thought the idea of these tests was for us to be depressed after doing them. I mean, I’ve been practicing that each time and now this happens. I’m going to have to change my whole outlook, but, I think I’m willing to do that. Love that the graph looks kinda like a hockey stick!

Thank you so much for sharing this inspiring news with us! I hope Brad’s progress gives you that extra bit of hope you’re looking for to keep fighting! The stuff (ERT) works! It really does!

Instant Replay

 
In case you missed it, here are the links to the podcasts of the live radio interview Dr. Barry Byrne and I did on August 8, 2010 for Health Radio.

Dr. Byrne – What is Pompe Disease?

Monique Griffin – New Treatment for a Rare Genetic Disorder Called Pompe Disease

I think we’re ready to take our show on the road! What do you think?

Pompe Patient Profile: Brad Crittenden

 
I feel it is important to “put a face” on Pompe Disease. I have been fortunate enough to connect with other Pompe patients and hear their stories. And now, I would like to start sharing their journeys with you. While you may be saddened by their circumstances at first, you will soon become inspired by their spirit as you discover we really can FIGHT POMPE!
 
First up in this series is Brad, who I met through Facebook when he was fighting for government approval to receive enzyme replacement therapy. I asked him to be my “guinea pig,” because he has an amazing story to tell and an even more amazing outlook. Brad is always up for helping to spread awareness of this extremely rare disease, so I figured the chance of him turning down my interview request was slim.
 

Name: Brad Crittenden
Age: 48
Location: Penticton, BC, Canada
When were you diagnosed with Pompe: Jan. 2006
 
 

What symptoms did you first experience?
I was told for years that I had asthma but, no, it was Pompe! I’ve always had weak core muscles. Even as a kid, I struggled to do a sit-up, but I just thought I was lazy. I guess that was just a coincidence! Because the changes are so gradual, I had no idea I wasn’t “normal”. I remember the daughter of a friend was sitting on my lap once and we were doing homework. She said to me, “Uncle Brad, why do you walk funny?” Kids are so darn honest!! I didn’t even know I did.

 

How long did it take to get a diagnosis and what conditions did they think it was before Pompe?
It took about four years to get diagnosed. I was never given any diagnosis to that point, other than asthma, but I was tested for many possibilities. We only figured this out because my doctors were diligent. They said they just had a few remaining, very rare, things to test for. I remember them calling and asking me to come in. I had gone for so many appointments, each time being told nothing, that I said to myself, “This had better be something serious, because I’ve had it with all these appointments!” I guess someone was listening!

 
  
That is Brad in the big yellow hat.

How has this diagnosis changed your life, have you adjusted any of your long-term or short-term goals?

I can deal with the muscle weakness I have now. I’m not in a wheelchair and I can get around well enough. I’ve had a lot of trouble with energy because of lack of sleep. That has affected my ability to work, and that’s a drag. The biggest change that I’ve had to get used to is strapping on a respirator so that I can breathe when I lie down. That’s a bigger drag. My diagnosis and fight has been hard on my family and friends, and it has changed their lives as well.

There’s good and bad about everything. I’ve got really good people in my world and I’ve met a lot of them because of Pompe. I’m more informed and aware. The best thing is that I don’t have to move furniture anymore!

It’s funny to think about long and short-term goals. Prior to the time I was diagnosed, I had decided to take more control of my health. I was weary from talking to doctors, that honestly, had very little to say. That’s not their fault, but that’s how it was. The diagnosis didn’t change my goals and I didn’t believe that Pompe would change me. But then the disease progressed. My breathing got so bad that I couldn’t sleep much. I knew it wasn’t good. I’m well-aware of the prognosis and my progression. Hearing a doctor say that I was two years from being ventilated was sobering, and probably optimistic. At that point, I no longer had long-term goals. When much of your day is focused on something as basic as breathing, it makes the things that we usually think about seem pretty distant.

Since being treated and feeling a bit better, my outlook has changed. I’m not feeling worse than I was three months ago, and I haven’t been able to say that for a long time. I don’t think of long and short-term goals separately. They’re just goals for me and I approach them with more optimism since ERT. I have personal goals and bigger goals. Personally, it’s to fill my life with things I enjoy and give the ERT a chance to provide opportunities. More importantly, help as many people as I can have that same chance.

What are some of the things you like to do?
I used to enjoy racket sports and steering a dragon boat. I had to give them up, but I decided to coach dragon boating while I was still in the sport. I still do that. It’s not the same as being in the boat, but exciting to help others enjoy it. I have a great team that tolerates my jokes! I’ve always been techie so was drawn to website design years ago and still do that. I’m Canadian so I love hockey!

Brad's first ERT treatment.

How long have you been receiving enzyme replacement therapy (ERT) and what, if any, improvements have you noticed?

I have been receiving ERT bi-weekly since May 27, 2010. I honestly feel like I have more energy, but that’s subjective. I like to see measurable things. I know my blood oxygen has improved, which makes me think the energy improvement isn’t just in my head. I’m due for a pulmonary function test shortly which I’m very eager for.

What was your approval process like for ERT?
In Canada, we have public healthcare, which is administered provincially. That means there are funding differences between provinces – there are a lot of things that are unfair and make little sense! There is a body (CDR), funded by all provinces, that evaluates effectiveness of drugs. The provinces use those recommendations when processing a request for something like ERT. Back in 2007, the CDR recommended funding of ERT for infants but made no recommendation for adults. Even by people who should know better, that decision has been read to mean they recommended against funding it for adults, which is incorrect.

ERT has been approved in all provinces in Canada for infants, however, when I was applying for approval, it had only been approved in two other provinces for adults. In British Columbia (BC), these requests go through a review process by an Advisory Committee (doctors, pharmacists, economists, ethicists, etc.). That committee makes recommendations to Pharmacare (the government), who then decides if it will be approved. That process took about 7 months in my case, and during that time my pulmonary function (breathing) dropped another 10%. I was the first Pompe adult approved in BC!

Outside of that process, because the patient has no access to it at all, we (a lot of people!) did take the opportunity to do a few things to increase awareness and apply some political pressure. I was interviewed by radio, TV, and newspapers. I was in constant contact with my MLA (Provincial Rep). A Facebook group was set up for me by a friend who also has Pompe. And a letter writing campaign was started which resulted in a lot of letters being sent to the Ministry.

I was contacted three times by the top official in the approval process. That is almost unheard of. These are very busy people. I do honestly believe that they wanted to do the right thing and I hope that other jurisdictions do the same thing.

What advice do you have for other Pompe patients?
Be your own advocate. Be your best friend, but lean on your friends and family. Use the people that are in the same situation as you for help, that’s us! Reach out to the groups who are there specifically to help people like us. There are many groups, like Muscular Dystrophy, Rare Disease organizations, etc. You are not the first person to go through this process so use our experience, and then pay it forward!
  

Don’t believe everything that you’re told. Ask questions! There is more being learned all the time. Don’t let the disease define who you are. You are not a Pompe patient, you are a person that has Pompe. 

What do you want people to know about Pompe Disease?
Pompe disease is one of many rare, but devastating, diseases. It doesn’t just affect patients, it affects families and friends. We are very fortunate though, because there is a treatment! We have a moral responsibility to provide it, and a responsibility to foster research by funding it.
Is there anything else you’d like to share?
Being diagnosed with Pompe is a double-edged sword. It’s certainly not good news, but it’s necessary to be able to move on and tackle its challenges. We are incredibly fortunate that so many people worked tirelessly to develop a treatment for us.

If you would like to be featured in one of my “Patient Profiles” or would like to recommend someone to be featured, please leave a comment.  

 

Still Fighting for ERT in NZ & Still Need Your Help!

 

Allyson needs ERT to help her fight Pompe disease, an email from you could help make that happen.

On July 28, 2010, I posted an entry (“10 Minutes”) asking everyone to write letters to New Zealand’s Minister of Health, Hon Tony Ryall on behalf of Allyson Lock. Several of us received standard letters of response from Ryall’s office. Yesterday, my best friend received a “personal response” from Ryall – I have copied the text of the letter below. (Thank you V!)

In the letter, Ryall encourages us submit information directly to PHARMAC, which is the NZ government agency that decides which medicines used in the community are publicly-funded.

“PHARMAC is currently consulting on potential changes to its EC policy. You, your friend Monique or Ms Lock may like to make a submission on the discussion document. It can be found on PHARMAC’s website (www.pharmac.govt.nz). Select ‘Patients & Consumers’, then ‘Have Your Say’ and “EC Review’.”

CLICK HERE TO SUBMIT NOW

Hurry! The deadline to submit is September 3, 2010! I have already sent my letter, now it is your turn.
 

Ryall’s letter…

Dear Ms. Shannen

Thank you for your email of 29 July 2010 about enzyme replacement therapy (ERT) for the treatment of Pompe Disease.

I am advised that Myozyme (alglucosidase alfa) was registered by Medsafe for use in New Zealand in April 2009. However, this medication is not currently funded by PHARMAC, the government agency that decides which medicines used in the community are publicly-funded. Ms Lock’s GP, if they have not already done so, can make an application to PHARMAC to fund the medication for her under the Community Exceptional Circumstances (CEC). PHARMAC advises that CEC funding is only available in situations where the disease/condition is rare, or the response to treatment is unusual, or there is some other unusual combination of clinical circumstances. PHARMAC defines ’rare’ and ’unusual’ as less than ten cases nationally.

Where one of the above criteria is met, CEC applications are then further examined taking into account the following considerations:

  • the suitability of the pharmaceutical for which funding is sought;
  • the clinical benefit;
  • the cost-effectiveness of the treatment; and
  • The patient’s ability to pay for the treatment.

Where the cost of a treatment being applied for exceeds $15,000 for the total course of treatment, PHARMAC’s 9 Decision Criteria are also considered.

PHARMAC received two applications last year to fund Myozyme under CEC. The Exceptional Circumstances Panel sought further information on these applications and will consider any other applications it receives for new patients applying for ERT for Pompe Disease.

PHARMAC is currently consulting on potential changes to its EC policy. You, your friend Monique or Ms Lock may like to make a submission on the discussion document. It can be found on PHARMAC’s website (www.pharmacy.gov.nz). Select ‘Patients & Consumers’, then ‘Have Your Say’ and “EC Review’.

The Government has provided an extra $40 million in 2009/10 and $20million in 2010/11 for funding medicines used in the community, but it is not possible to subsidise every medicine available in New Zealand.

Yours Sincerely

Hon Tony Ryall

Minister of Health

Saves Lives!

Let your voice be heard! Patents in New Zealand don’t have to be dying from Pompe, they could be receiving enzyme replacement therapy instead and be FIGHTING POMPE!

Please take 10 minutes to make a submission to the discussion document. Thank you!

The Suite Life

 
On Monday, I received my Lumizyme infusion at the new site Genzyme arranged in Orlando. This site is technically closer to where I am than the University of Florida, but the drive there is much more unpleasant. Going to UF was super easy as most of the trip I could set the cruise control. The new, closer, site involved traffic and about a million stop lights. The drive to UF is about 2 hours of easy highway driving and it took me an hour and 15 minutes to get to the new site. I’m going to try a different route next time and see if I can make the drive easier and faster, unfortunately this will involve having to take dreaded toll roads – which I despise. I especially dislike the idea of having to pay a toll to simply go across town.
 
The infusion suite itself is nice, really nice. It is private and has a very comfy chair and a TV with a DVD player. The people who work there are very nice and the best part… the nurse got my IV on the first try! This particular facility does a lot of home health care, so if down the line it becomes possible to receive my Lumizyme infusions at home I will probably be able to continue working with them thus saving me another transition to a new infusion team. Steve, my local Genzyme guy, is looking into when and if that will be allowed with Lumizyme. Currently, patients in other countries are able to have home infusions and Myozyme users in the US have been told that after a year, they can receive home infusions – barring any complications of course. With Lumizyme having only received FDA approval in May of this year, it might not be as “easy” to switch to home infusions after just one year of treatment – time will tell.

So for now, I will continue to travel to the new Orlando site – hopefully the drive will improve. If not, I’m setting the cruise control and heading back to the Home of the Gators!