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!

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