Dr. Barry Byrne

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.

Sincerely,
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.

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!

Busy Times – Quick Update & Photos

 

I know, I know – I have lots to update you on, but very little time to do it. I will get around to posting everything as soon as time permits.

In the meantime, here is a quick update about one event this past week:

On Tuesday, Ramin and Darryl from Ivanhoe Broadcast News met me at the fitness center to interview me and get some footage of my physical therapy work. They also interviewed Dr. Byrne because they are putting together a piece on Pompe that will be sent to their 250 affiliates nationwide in early October. I’ll keep you posted about when and where it will air, but for now – here are some photos from the shoot.

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?

Progress Report

 

I’m so excited to share this news with you. I had a physical therapy assessment this week and it showed that I had slightly increased strength in both my legs and arms!

That is still a little crazy for me to really wrap my head around. I mean, I know I’ve been working hard by sticking to my Lumizyme infusion schedule, along with my diet and physical therapy program – but to finally have tangible data that I’m really improving is… in a word: Thrilling!

Pompe is a progressive degenerative muscle disease. The course it is supposed to take is to make me weaker and weaker until… well, there’s obviously no reason to go down that dark alley now. I am stubborn, I always have been and I chose to fight back – so take that Pompe! I couldn’t have done it without the help of my entire medical team including my friends at Genzyme, Dr. Byrne, and my physical therapist Tina. You guys rock!

Again, take that Pompe!

August Update

 
 

 

August has just begun, and already it is shaping up to be very interesting.

Say Cheese!
On Tuesday, Genzyme sent an amazing photographer, Chris Kirzeder to take photos of me. Yes, me. Why? Genzyme will use the photos in materials relating to Lumizyme such as brochures and other educational publications. At least that is how I understand it. I shall keep you posted.

New “I CAN”

During the photo shoot I made a discovery that confirms to me that I am getting stronger, bit by bit. We took some photos in the pool and I was able to climb in and out of the pool without any assistance climbing the stairs! That is something that I couldn’t do only a month ago. I confirmed my new found stair climbing ability today at the therapy pool in the hospital – I CAN now climb out of that pool with only having to use one hand on the railing. Improvement, slow and steady improvement!

Tune in! (UPDATE: HERE IS THE LINK TO THE PODCAST)

Tomorrow, I will be doing a live radio interview for Insider’s Health, on HealthRadio.net at 3:30pm (EST).The program will air nationally and a podcast will also be available. They want to know about little ol’ me and Pompe. More Pompe awareness!

Change of Location

I will no longer be receiving my infusions at the University of Florida. With the ATAP program coming to an end on August 20th, “regular” infusion sites were set up. Initially UF was not going to be infusing adults with Lumizyme, so the paperwork went through to have my infusions conducted at one of these new sites. After my insurance had approved the new site, I was told UF had worked something out in order to keep infusing adults. Since my paperwork had already been put in motion, I decided to give this new place a try. After all, I’ll never know if this new location will be better for me geographically unless I give it a go right? If I am unhappy at the new infusion center, I’ll be going back to UF. So, on Monday, my “regular” infusion will take place in a new location with a new team of health care professionals. I also decided to move forward with the change of venues because I feel that this is an opportunity to help educate more medical professionals about Pompe. Dr. Byrne and Lindsay Falk at UF will still be part of my health care team, and since Dr. Byrne is such a rock star in the Pompe world, that is very important to me.

September is shaping up to be interesting too… but for that you’ll have to wait.

Diagnosing Pompe

It was a zebra, not a horse, that left the hoof prints.

Pompe Disease can be a challenge to diagnose. It is so rare many doctors do not even think to look for it. It is the zebra, not the horse, that left the hoof prints. After I was finally diagnosed with it my GP said, “Pompe Disease is one of those rare diseases we read about in medical school and then never hear about again – let alone see it in a patient.”

My path to diagnosis started with headaches. Others have experienced different symptoms from hair falling out, difficultly breathing, and of course muscle weakness. One patient I know was even told at one point she did not have Pompe! The disease mirrors other forms of muscular dystrophy and effects each patients differently, so it is no wonder why the average diagnostic timeline spans over years, often including at least one misdiagnosis.

Doctors don’t automatically look for Pompe Disease and often dismiss symptoms as not being related to a bigger condition. My neurologist in Las Vegas knew I had some form of muscular dystrophy and strongly felt the headaches were related. But when I was sent to UCLA for a diagnosis, the “specialist” there wanted nothing to do with my headaches or other symptoms I was experiencing including shortness of breath and coughing. He sent me back to Vegas and told me to deal with these problems individually as he was only going to address my muscle weakness. Everything else was just “something else” and couldn’t possibly be related to a Muscular Dystrophy as he had never seen anything like that before. This is also the guy who told me a muscle biopsy wouldn’t hurt and refused to give me any post-operative pain killers. I have ranted about the crap care I received at UCLA in earlier posts, so I’ll try to keep it to a minimum here while making my point – which is, don’t dismiss symptoms as being unrelated and do not let your doctors do that either. If you suspect you or a loved one may have Pompe Disease or another form of muscular dystrophy, every clue is important.

 

Don’t be afraid to ask for a second opinion. Don’t be afraid to ask your doctor to specifically test for Pompe.

The headaches, we now know were occurring because of the weakening of my diaphragm and other muscles surrounding my lungs. Morning headaches are a very common symptom of Pompe, a symptom that the “specialist” at UCLA so casually dismissed. When I finally got fed up with UCLA, I sought answers at the famed Mayo Clinic in Rochester, Minnesota. The neurologist I saw there, did not dismiss my headaches and actually successfully treated them.

Pompe Disease can wreck havoc on the body in so many different ways. One family was sent on their diagnostic journey when their youngest daughter’s hair started falling out in clumps. They were also told by one doctor that this was not related to Pompe, but they have spoken with other Pompe patients who experienced the same symptom.

Bottom line is this: most medical professionals know very little about Pompe Disease. Unless you are lucky enough to been seen by the Mayo Clinic specialists or the Dr. Barry Byrnes of the world right away, your diagnostic journey could be a long one. You have to do your own research. Read as much as you can, talk to as many experts and other patients as you can. The information shared between patients is invaluable as there actually is very little literature freely available to the public out there on Pompe. Get yourself to an expert who knows and has seen Pompe if you can. Ask for a blood test to confirm diagnosis hopefully before they put you through a painful, expensive, and scar-leaving muscle biopsy. Pompe Disease can be diagnosed through a blood test which is sent to Duke University. The test results can usually be turned around in less than a week and only costs about $250. Most insurance companies will pay for this test. If you feel your are running out of options in your local area and traveling to Mayo or somewhere else is out of the question, then reach out to your local Muscular Dystrophy Association. They are a wonderful resource and can help ease the path to diagnosis.

With Pompe Disease, early diagnosis is key as it is a progressive disease. The sooner a diagnosis is made the sooner you can start the life saving enzyme replacement therapy.

You have to be your own, or your child’s, advocate!

I think we should adopt the zebra as our official mascot!

Friends, Food, Fun, and Infusions

I received my 8th ERT infusion this week, my second official Lumizyme infusion. No cameras or reporters this time – how boring! Everything went fairly well. The new pharmacy delivered my meds half an hour before my appointment time. Now that Lumizyme is commercially available there is a new delivery system for my meds which involves a wholesaler and a distributor. Instead of Genzyme delivering the vials to the hospital pharmacy for preparation, they are now delivered to an off-site location where my Lumizyme cocktail is mixed.

The nurses got my IV started with just two sticks and I have no bruises to show for it. I started running a slight fever during my infusion – about 3 degrees above my normal temp. They monitored me for an additional half and hour or so because of this. I honestly didn’t even notice I had a fever and felt fine. All my other vitals were normal and consistent, so after checking with Dr. Byrne I was given the OK to leave with instructions that should I start feeling worse to head to the nearest ER. It never came to that, and I am fine.

After I left the hospital I met up with the Crowley family from Pennsylvania. This was my first time meeting them and they are a very important component in my Pompe journey. Two of their daughters have Pompe also and I contacted them via the internet once I received my diagnosis. Matt, the girls’ father, pointed me in the direction of Genzyme and Dr. Barry Byrne while encouraging me to be my own advocate! I know that without the information the Crowley’s had for me I probably wouldn’t have started my infusions as soon as I did. So I am forever grateful to then for sharing their story and knowledge with me.

The entire family, Matt, Donna, Emma, Carter, and Maddie were visiting Gainesville to meet with Dr. Byrne. It was great timing that their appointments were the same week as my infusion – which only happened because my schedule changed due to the “special first” infusion two weeks ago. But honestly, I would have driven back to Gainesville to meet up with them anyway.

Dinner was great – we talked for hours and it was like we had know each other for years. We have so much in common, beyond Pompe. Emma, Maddie, and I took turns quizzing each other about our symptoms. Can you do this? Or do you have trouble doing this? I bet we looked and sounded a little strange to passersby’s. I can imagine the staff and other guests trying to guess what sort of strange game we were playing! We have some symptoms in common and others we don’t. Pompe is a strange disease that hits each person differently. It was great to be able to sit face to face with another family who has been there and done that with the doctors, diagnosis, treatment, and worst of all, the not knowing. They are a wonderful family and very supportive of one another and the Pompe community as a whole.

I hope they are able to visit again. I think I just about have them sold on the idea of a Disney family vacation.

The Crowley's plus one: Donna, Emma, Me, Maddie, Carter, and Matt