University of Florida

The Lab Rat Chronicles

Over the summer I participated in the Amicus Therapeutics AT2220 Trial. The clinical trial is a safety study of a chaperone drug. The study drug basically does what the name suggests, it works alongside Lumizyme and “chaperones” it, making sure more if it gets delivered to where it needs to go. It is an oral (liquid) medication that is taken about an hour before starting regular enzyme replacement therapy (ERT).

I participated in the study at the University of Florida (UF) – where else? The team up there asked me to participate over a year ago – which should give you an indication about how long it takes to set something like this up and running. Additionally, it is a pretty big commitment on the part of the patient (lab rat) as well as the medical team. I had to commit to 6 separate, carefully timed appointments just to receive a single dose of the trial drug. I underwent several tests, including a couple of punch needled muscle biopsies, hourly blood draws during my infusion, and a couple of overnight stays in the hospital – all in the name of science.

The team at UF is amazing – but that is nothing new to those in the know about Pompe. Of course, I was a little nervous testing a new drug, but I knew I was in expert hands. After all, this is where I first started my ERT, before it received FDA approval and I’ve yet to grow a second head. In all seriousness, I couldn’t ask for a better place to be or with better people to work with. Not only is everyone so knowledgeable about Pompe and all the emerging research, they are simply a great bunch of people – the kind you just want to spend time with socially. It really makes having a sucky disease like Pompe a little less sucky.

The clinical trial is being conducted in 4 cohorts, or groups, each of which will receive a different amount of the trial drug. Patients in cohort 1 received the smallest dose, while those in cohort 4 received the largest. I was in cohort 3 and the trail should be wrapping up very soon. Preliminary data from cohorts 1 and 2 are showing promising results.

It could be a couple of years before the next phase of the trial begins, meaning more patients and more doses. Clinical trials are very closely regulated by the FDA and the smallest little mishap could set the whole study back. Which is why things can seem slow going, but it is really in everyone’s best interest that everything is done exactly right down the tiniest detail. The smallest error could result in a big set back.

Would I participate in a clinical trial like this again? More than likely, yes. I would have to take all the factors into consideration, it really isn’t something to be entered lightly. As I mentioned, it is a pretty big commitment time wise, which can seriously cut into my travel plans. It would also depend on who was running the trial. If it was Dr. Byrne and his crew up at UF and I had time – then, yes, sign me up.

Your Loyal Lab Rat

UF: The Pompe Hot Spot

George, Me, Dr. Byrne, Mike and his son, Brad, Allyson - my UF Pompe Peeps!

Last week I spent a couple of days in Gainesville playing lab rat to everyone’s favorite mad scientist Dr. Byrne at the University of Florida. The major focus of the trip was to enroll me in the observational study – it is the same one my friends Maddie and Emma are in. I had a walking test, strength test, pulmonary function test, blood draw and an MRI over the span of two days. These tests will be run every year for 5 years.

While I was taking the pulmonary function tests, I noticed that one of the tests was quite exhausting. I mentioned to Barbara, the respiratory specialist that it would probably make a decent pulmonary workout. She then got all excited because she had just started a study on respiratory muscle strength and function. She asked if I would like to enroll – and be her first patient/subject. Who me? The UF Pompe study addict? Another study to help not only the Pompe community, but that might actually improve my respiratory function? Yes please! Sign this lab rat up for another study at UF! So I now have a respiratory “trainer” that I will use a couple of times a week and I’ll record my “workouts” in a journal. She explained it was kind of like weight lifting for the respiratory muscles, I couldn’t do it everyday, I had to rest between sets, and could slowly increase the resistance over time. I’m excited to see if my respiratory function will improve.

About a year ago, Dr. Byrne had inquired if I would be interested in trying a new contraption out not knowing if it would help me or not….but he had a theory. And like a good little lab rat – who is always looking for ways to improve my condition I told him he could count me in not knowing what I was getting myself into. The “contraption” is a harness on a treadmill, from what I understand, it has been traditionally used to help patients with spinal cord injuries. I was placed in a rock climbing harness, which took some getting used to, and headed up to the treadmill. It was very difficult for me to “trust” the harness because I had absolutely nothing to hold on to and the harness was the only thing to keep me from falling to my death….ok, I was only a few feet off the ground, but in the Pompe world, even for short people, the ground is a long way down. The treadmill training was tough but well worth it, I was able to walk at a faster pace than usual – once I learned to trust the harness. I did stumble a couple of times and the harness was there to catch me. Some of the stumbles were a result of either one of my knees giving out or losing my balance. We’ll have to analyze the video to really understand. One of the goals of this “experiment’ was to retrain my body to walk more automatically rather than to use things to hold on to or analyze each step in my head. So, after they pulled me off the treadmill and took off the harness they had me walk up and down the hall. And you know what? I think I was walking a whole lot better than before the treadmill experience! What’s next for this? I’m not sure anyone knows, but I would do it again and again and push myself farther and farther if given the opportunity. This experiment opens up a whole lot of possibilities.

This trip also gave me the opportunity to visit with some Pompe peeps as right now Gainesville, in my opinion, is the hot spot for Pompe research. My first night in town, was also Allyson Lock’s first night in town – well sort of, her long flight from New Zealand got her to Florida at around midnight the previous night and a two hour drive to Gainesville from the Orlando airport meant she crawled into the bed around 3am. But when we met up, she was all bright eyed and bushy tailed – just like the squirrels she and Brad Gibson  are so fascinated by. I guess they don’t have those in Australia and New Zealand. Brad has been in Florida for about 6 months now. Both he an Allyson are participating in the BioMarin clinical trial for the next generation of ERT, essentially it is a safety study, but it is the only way either of them can receive treatment for Pompe as their governments still refuse to fund the life saving treatment. Brad’s treatments have been going well and he has a nice little exercise routine that he does and will try to get Allyson to do too. Allyson was getting all her preliminary tests done while I was getting my observational tests and such done. The good news is that she meets all the criteria and will get her first infusion on Monday, August 22!

Also hanging out at UF, is Mike Stanzione. You may remember, he has been stuck in the hospital for 4 years! Well, that mad scientist Dr. Byrne got to thinking and decided that Mike would be an excellent candidate for a diaphragm pacemaker. Mike is the first Pompe patient to receive this surgery and the hope is that it will allow him to go home, not home to the NJ hospital, but home home – to his family. The pacemaker surgery was August 15 and it went really well, now he has a lot of training to do over the next few weeks to allow his body to adjust and hopefully free him up from the ventilator from time to time.

I also got to meet Joseph and his family. They were in town from Alabama to see if Joseph qualifies for the gene therapy study Dr. Byrne has going. This is the next step in treatment beyond ERT – it is very promising for everyone. The gene therapy study involves injecting a virus into the diaphragm of young (under 16 years of age) Pompe patients who are ventilator dependent.

So, you see, it is a very exciting time research-wise for Pompe at the University of Florida. Dr. Bryne and his staff are incredible, they immediately put patients at ease and make them feel as if we are more than just “subjects” that we are actual patients they are trying to help. It would be so easy for them to just focus on the science and not patient care. But they understand how difficult it can be for us to get out to an appointment, so their goal for their patients is to develop a clinic setting, not far off from what Mayo does from what I can understand, that would allow patients to have their appointments all in one day and their specialists would communicate together putting together the best possible approach to each patient’s treatment plan. This may not seem like a big deal to those of you who only visit the doctor every so often, for a cold or a routine exam once a year. But with Pompe, it effects so many different systems that you really need a team of specialists looking out for you. In a non-clinic setting you would have to make appointment after appointment, days, weeks and even months apart with different specialists in your area who may or may not communicate well with one another. You would also have to, most likely, be responsible for transporting all your records from place to place. Having a clinic that is kind of a one-stop shop for all things Pompe make fighting this disease a little easier.

Go Gators!

Fundraiser Success


Thank you to everyone who supported our Scentsy fundraiser for Pompe Peeps Brad and Allyson. A big thank you to these super stars who placed orders during the fundraiser:

Kimberly Yakabi

Amy Atwood

Lonnie Tuttle-Williams

Kari Hickey

Cheryl Tuttle

Bonnie Barkley

Nina Cataldo

Susanna Cataldo

Margie LoDuca

Jenn Bunn

Jill Bouska

And of course another big thank you to our Scentsy Consultant Trinity Lawrence. I hope everyone is enjoying their Scentsy products as much as I am!

We managed to raise enough money to send each of them a Visa gift card. Brad has already received his gift card, and Allyson’s card is waiting for her at the University of Florida – she arrives in just a few days!

A few weeks ago I had the opportunity to meet up with Brad. He is doing really well and has noticed an improvement in his overall health since starting the drug trial.

Here are the latest news articles on Brad and Allyson.

I have a ton more updates to post, but I have been a bit occupied with back to back to back visitors as well as my usual Pompe adventures which include a couple of patient meetings, some media interviews for the MDA, and my 6 month check up at the Mayo Clinic. So please be patient with me as I try to get everyone caught up.

Fundraiser! Imagine That!


Imagine you have a life threatening illness for which there is no cure – only a treatment. Now imagine that the treatment is only available half a world away and you would have to leave your family behind for 6 months in order to receive this treatment. Imagine the emotional and financial burden this would put on you and your family. For Brad from Australia and Allyson from New Zealand, they don’t have to imagine it – they are living it. Read more about Brad and Allyson’s journey to America HERE. While there is little we can do as a community to ease their emotional burden, we can band together and try to alleviate some of the financial burden.

My dear friend Trinity has graciously volunteered to host a Scentsy fundraiser for Brad and Allyson. 20% of the sales will be donated to Brad and Allyson directly to help them with their day to day needs. Every little bit helps in a situation like this.

The fundraiser will run the entire month of June. Orders can be shipped to addresses in The USA, Canada, The UK, and Germany only. Scentsy offers great products that smell so wonderfully good – and they make great gifts!

Wouldn't this look lovely in your home?Simply visit Trinity’s Scentsy page HERE and click on “My Open Parties” and select “Fundraiser for Pompe Peeps/Brad & Allyson.“ VERY IMPORTANT: You MUST click on the correct “party” link in order for the funds to be earmarked for Brad and Allyson – changes cannot be made once the order is placed.

Alternatively, here is a direct LINK to the fundraising page for Brad and Allyson.

Please forward this fundraising information to everyone you know – because every little bit really does help.

Imagine what we can do when we all stick together. Now go shopping for some lovely smelly good things, and imagine how wonderful your home will smell for a good cause!

Thank you, one and all.

Welcome to America!


We are all in this fight together!
If you have been following my blog, you may recall some posts about Pompe patients in New Zealand and Australia being denied enzyme replacement therapy (ERT). Our friends in the southern hemisphere are fighting with their own governments to approve funding for Myozyme – the life saving treatment for Pompe patients. And, if you follow my blog, you know – the stuff works! However, the bureaucrats are not convinced. We will continue to fight for our fellow Pompe warriors in New Zealand and Australia – I’m sure there will be calls for letter writing, so keep those typing fingers in tip top shape!

Allyson: “When it comes time to book my plane ticket I will start to feel the pain of knowing I have to leave my family for such a long period of time. My little boys - Ben age 9 and Josh age 7 - get sad if I just go away overnight, so it will be very hard for them. It will be very hard for all of us. I'll miss their birthdays, their piano recitals, their sports on Saturday mornings. Having said that, this is a huge opportunity which will hopefully not only extend my lifespan, but also my quality of life. 6 months out of a lifetime isn't so much. We are a Navy family so we are used to being separated for long periods of time. But it has always been my husband who is gone, sometimes up to 8 months at a time. Sometimes I get envious of his travels - this time it is my turn! We're kind of looking at it like it is just another deployment.”

In the meantime, two of our friends are coming to America, to participate in a clinical trial of a new ERT drug from BioMarin. They will be in excellent hands because they will be Dr. Barry Byrne’s newest “lab rats” at the University of Florida. Allyson Lock from New Zealand and Brad Gibson from Australia will be touching down at Orlando International Airport as soon as all their travel documents are in order. The clinical trial is expected to last 6 months and they will undergo infusions every two weeks during that time. They are traveling half way around the world for a life saving treatment because their government won’t approve funding for it. Thank goodness for clinical trials and the welcoming arms of the University of Florida. 

Brad: “For me to move away from my life for an extended amount of time like this is very hard. My oldest boy Jesse is 12 years old and changing monthly, Daniel is 9 years old and too smart for his own good and Elissa is 6 years old going on 16 and learning ballet so whilst she has attitude she's a sweet little girl. I know the boys are going to miss me as I normally try to get to all their Rugby Union games and to some of Elissa's ballet performances when I can. My wife Ellen works as a physiotherapist and is the glue that holds us all together, but as I've been getting weaker she has had to do more, but I'm afraid with me gone she will shoulder more of the burden of running our house, looking after the kids and working on top of that. I'm hoping I can come back from America a lot better than when I go over. It’s a chance I have to take because my own country won't make the ERT treatment available, so whilst it's a tragedy that I have to leave my wife, my family, my job and my life, I don't see I have too many other choices if I'm to stay around for my family.”

It is our hope, that once their governments see how effective this treatment is on their own citizens they will reconsider funding ERT. But for now, Allyson, Brad, and their families can rejoice in the fact that they will receive the life saving treatment – even if it means spending 6 months away from home.

I couldn’t be happier they are going to get treatment and am thrilled they will be “right up the road” at the University of Florida. Guess we’ll have to make Gator fans out of them! Go Gators!


Media Update and More



Just chilling at Epcot with my pal Barry - Dr. Barry Bryne that is! We had to wear shades so he wouldn’t get mobbed by his fans!

A few months ago producers from Ivanhoe Broadcasting paid me a visit at Celebration Hospital‘s Fitness Centre and Day Spa (one of my main stomping grounds for battling Pompe). They also interviewed Dr. Byrne about his role in our rare disease world. In case you didn’t know, Dr. Bryne is one of the leading Pompe researchers in the world and I consider myself one of the luckiest rare disease patients in the world to be under his care. The segment is scheduled to air on over 200 television stations across the country in January. I don’t know when or where it will air, but if you see or hear an announcement for “Cracking the Code: Pompe Disease” then that’s the one.

You can view the segment online by CLICKING HERE. You’ll have to sit through the segment on Tai Chi first, so don‘t think you‘ve landed on the wrong page. And be sure to pass the link on so we can continue to raise awareness!

I’ve also updated the page “M.E.G. & the Media” with this link as well as a new article from UF.

I’m off to Boston next week to meet with the wonderful folks at Genzyme. I’m going to give a speech at their annual marketing meeting. I’m excited to see the facility and meet with all the dedicated people who are making our lives better. I’ll have photos and updates soon. Wish me luck and warm(er) weather!

Thank you everyone for your continued support and interest!

More “Magic Meds” Media

The University of Florida has posted a video about the first Lumizyme infusion. CLICK HERE to view it.

The Muscular Dystrophy Association wrote a really nice article and has posted to their online version of Quest Magazine. CLICK HERE to read the article.

The First Lumizyme Infusion

June 16, 2010. Today I had my 7th infusion. What made this infusion different is that it was the first official Lumizyme infusion since Genzyme received their FDA approval to produce the drug commercially.
Those of you who have been following along and keeping track of my infusions know that today is not my normal infusion day. The University of Florida wanted to be one of or the first to administer the newly approved drug and asked me to be the first recipient. They were in a race with Duke University to be the first to infuse Lumizyme. Duke ended up not administering Lumizyme today, but rumor has it that a small town in New York had an infusion today too. But I’m pretty sure UF is happy to just hold the bragging rights over Duke.
The hospital sent a car to drive me to and from my infusion, which made it nice because it turned out to be a really long infusion day. I arrived at Shands Medical Center at UF and met with my study nurse Linsday Falk and Dr. Barry Byrne. I had new paperwork to go over and sign, Dr. Byrne said it was essentially like starting all over again. Representatives from the University’s Media Department were on hand to record the “historic” event. You can view the article here and video footage should be available on the UF website later.

Paula Graham, Medical Science Director Genzyme, Dr. Barry Byrne, Monique Griffin, Study Coordinator Lindsay Falk BSN, RNC, Ivy Kelly RN, Sarah Kulke, MD, Director, US Medical Affairs Genzyme.

Representatives from Genzyme were also on hand because months earlier they had scheduled a teaching seminar at the University. So it was just a coincidence they were there for the first Lumizyme infusion. They were very gracious and excited to see all Genzyme‘s hardwork in action. It was a real treat to have them there along with, Dr. Byrne, Lindsay, and the Media Department.

It was a little strange to have so many people and cameras in my infusion room, but my life hasn’t been exactly normal these days anyway. Later in the day I spoke with a reporter from the Gainesville Sun and her article can be viewed here.

Everything went well and it was a pretty exciting day for Dr. Byrne and his research team, the University, Genzyme, and of course me. I was happy to be part of it and glad the chose me to receive the first Lumizyme infusion.

They said I may receive further media requests, but the UF Media Department will help field those for me. What a day! If nothing else, I hope the day brings more awareness to Pompe Disease and the amazing work Dr. Byrne and the folks at Genzyme are doing.

Today’s even almost didn’t happen. We all had to work around the clock for the week leading up to today in order to put everything in place. Phone calls, emails, faxes were going non-stop between UF, Genzyme, myself, my insurance company, the pharmaceutical distributor, and the wholesaler. I didn’t receive the final ok that today’s infusion was going to happen until 8:30pm last night.

In less than two weeks I will return to UF for my next Lumizyme infusion. Somehow I think it will be less eventful.

Photo by John Pastor, University of Florida News and Communications

FDA Approval Granted

For those of you in my Pompe family this is old news, but I haven’t had a chance to update my non-Pompe readers yet. The FDA granted Genzyme approval for Lumizyme, the adult enzyme replacement therapy for Pompe Disease. The approval came a few weeks ago, but I’ve been too busy to catch everyone up.

What this means for me is that my insurance company will now have to approve the treatment and will receive a bill for my treatments – a very, very large bill. The University of Florida and Genzyme are currently negotiating approval with my insurance company so that I may continue my treatments. What this means for patients not currently being treated for through the ATAP program is that they will soon be able to start their enzyme replacement therapy! For those of you in that boat – congratulations! The treatments have already started to improve my condition and I hope you all can say the same thing too soon!

I will continue to receive my treatments at the University of Florida until another infusion site can be set up. From what I understand, they are focusing on setting up the first Florida site in the Orlando area. Doctors, nurses, and pharmacists all have to be trained to administer the newly approved drug. Many have never heard of it, let alone know how to prescribe, mix, or administer it. The hospital has to agree to take on the responsibility of administering this very expensive drug that has no real long term study data. And the infusions have to take place in a hospital setting in case someone has a severe reaction. Can you say somewhat risky from a pencil pusher hospital admin point of view? So it can’t just be set up anywhere nor everywhere. With only a handful of confirmed Pompe patients (at last count there are 10-12) in the state of Florida, one site in the middle of the state does make sense. The FDA will continue to monitor us, the doctors and Genzyme are required to continue to provide patient information to the FDA. So in essence the “study” will continue, it is just that the drug is now commercially available to all who are fighting Pompe.

Last week I officially registered with the Orlando area Muscular Dystrophy Association and met with their clinic doctor. He has met with Genzyme and will be going through the training to administer Lumizyme. I have no idea how long the training will take or when I will have to make the transition from the University of Florida to the Orlando site, but for now I have infusion appointments scheduled at the University of Florida through August.

Hassle-Free Infusions (sorta)

After fearing I would pass out every time they put a new IV in, I am happy to report that my first three infusions have gone well and I have remained conscience each time. I have really small veins for an adult and they’ve even had trouble drawing blood at times. I was concerned when I found out I would need an IV infusion every two weeks for the rest of my life, especially because my most recent passing out experience happened at a blood draw just two weeks before my first infusion. I really didn’t want my little veins to be a problem that would prevent me from receiving enzyme replacement therapy or that I would be forced to have a porta-cath or PICC line.

But I think I have this whole IV thing mastered. First, good nurses are key! At the University of Florida, there are several expert “stickers” on staff. The infusion center is on the same floor as the Peds ward and the nurses there are used to tiny veins. They also have a nurse who they call in for those really tough cases, she is some sort of Vein Whisperer. Surprisingly by just taking a few easy preparatory steps they haven’t had to call in a Peds nurse (except for that first blood draw) or the Vein Whisperer for me.

Hydrate – I make sure that I’m very hydrated before arriving for my infusions, I drink plenty of water. If Gatorade didn’t have so much sugar in it, you can bet I’d be chugging that instead.

Warm – I try to keep my hands and arms warm and ask for a heating pack when I arrive at the infusion center.

Distract – When the nurse arrives to do the actual “stick” I make sure to ignore her. No, this is not rude, it actually makes her job easier because if I’m not focused on the IV going in, my muscles are relaxed and she has an easier time of it. I’ll talk to someone, read, play with my iPod – anything.

By following these simple steps I’ve turned my infusion appointments into hassle free sessions – well as much as one could hope for sitting in an infusion center for hours and hours every two weeks!

I am not completely out of the woods with the whole infusion thing just yet. My next infusion is number 4 and Dr. Byrne said that an adverse reaction, if it was going to happen, would show at the third or fourth infusion. I’m not going to worry too much about it as 1. There is nothing I can do about it and, 2. The other infusions have gone so well, the chances of me having a reaction at this point are pretty low.

I am however experiencing some sort of allergic reaction to something. I’m getting mild dry patches on my face and in my scalp. The doctors are not sure if it is a reaction to the Myozyme or if it is just a regular run-of-the-mill allergy to the pollen in the air. Florida is having an unusually bad allergy season this year, and this is my first season here so I have nothing to compare it to. I’ve never had spring allergies before either, anywhere I’ve lived. The exception is one summer I was in Paris, France and there was something in the air that time of year that caused my eyes to swell up and itch. It was a text book case of hay fever – the only one I’ve had in my life. The reaction I’m having now is a little a different, yes my eyes will swell and get red, but the itching is minimal. I’m armed with eye drops and other allergy medications which give me some relief and honestly the dryness is not that uncomfortable – I just don’t like the way it looks even if I’m the only one who can see it. My study nurse wrote down that I was having some sort of allergic reaction – to something and we’ll just wait and see. If it is a reaction to the Myozyme, it is so mild that it won’t prevent me from receiving future treatments. Hopefully, whatever it is it will just run its course and go away soon.