Month: June 2010

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

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

The Wizarding World of Harry Potter

I know what you’re thinking – what does a new theme park area have to do with Pompe? Everything, I say. If you read an earlier post of mine, Pompe Everyday, you know that for those of us with Pompe Disease everything we do every single day is touched by Pompe. My philosophy is that I like to focus on what I can do (and eat) rather than what I can’t. And there is a lot in the new Harry Potter themed land at Universal’s Islands of Adventure that I can do!
The area itself, Hogsmeade Village and Hogwarts Castle, is of course completely assessable to those of us in wheelchairs. The shops, however are small and of course crowded making it difficult to maneuver around the other Harry Potter fans. If you can, you might want to park your wheelchair outside the shops and explore inside on foot. But people tend to get out of the way, especially when they see a chair coming and fear for the safety of their often flip flop exposed toes.

Try before you fly! Located at the entrance to the new Harry Potter ride is a 'tester' seat. Give it a try before you wait in line and ask to be directed to the non-moving loading platform so you're not rushed while loading and unloading. Enjoy - it is a great ride!

The main attraction is a brand new ride with cutting edge technology: Harry Potter and Forbidden Journey. It is housed in Hogwarts Castle that towers over Hogsmeade Village. The queue is part of the attraction and is completely wheelchair friendly. It is pretty dark in there, so your wheelchair driver will have to maneuver around turns and through doorways. Electric wheelchairs and scooters are not permitted in the ride, but they have transfer wheelchairs available – if you’re lucky. Universal is not as wheelchair friendly as Disney and therefore often only supply one transfer wheelchair per attraction. Outside the queue entrance is a “test” attraction vehicle. You can practice transferring to the ride vehicle using this and decide if you’re able to take on the Forbidden Journey.

Be sure to request the stationary loading platform if you have any mobility challenges, otherwise you'll head to the moving platform where timing and balance are key to getting on and off the ride. This way is just so much easier - and pretty private too!

Basically, if you can transfer from a wheelchair by yourself or with the help of your party, you should be good to go. They also have a separate loading area for those needing extra time and help getting on and off the ride vehicles. This is a great design, they use a similar technique at Disney’s Toy Story Mania. There is a separate loading area that is on a side track so the slower loaders don’t slow down the regular line. Just tell the team members that you’ll need the stationary loading platform. The alternative is a moving platform, an Omni mover, like the one at the Magic Kingdom’s Haunted Mansion. Like Disney, you don’t bypass any part of the line by using this alternative loading platform which means you don’t miss any of the fascinating queue line – which you really don’t want to miss as it is part of the overall experience of the attraction.


The area also features two other attractions, both of which are re-dressed roller coasters: Flight of the Hippogriff and Dragon Challenge. The Dragon Challenge has test vehicles at the queue entrance also. Flight is pretty tame, but you’ll have to climb in and out of the vehicles with low seats. I didn’t see test vehicles for this attraction.
There is one restaurant in the area, The Three Broomsticks. It is a quick service restaurant that serves breakfast, lunch, and dinner. Being a British themed pub type restaurant many of the entrees are severed with potatoes. Having lived in Britain for a few years, I pretty much knew this going in. I explained my condition to the team member who took my order and she was able to substitute the potatoes and corn on the cob (a grain) with mixed veggies which included broccoli, red peppers, and carrots. They did charge a small fee for this of course – after all it is Universal and not Disney, but it was better than just tossing food out I can’t eat.
They also serve two drinks that Harry Potter fans have been dying to try ever since it was announced they would be available: Butterbeer and Pumpkin Juice. Butterbeer can be ordered “regular” or “slushie” style (they have other names for this but I can’t remember). Butterbeer tastes a lot like cream soda, so I’m sure it is loaded with refined sugar. That being said, if you have Pompe Disease and are like me avoiding sugar, then maybe just have someone in your party order it for you and just have a taste. That is what I did. As for the Pumpkin Juice, that is far less “toxic” for us. The ingredients are listed on the label and it is mostly apple juice. There is sugar in it, but it is the 4th ingredient on the label and the drink is 81% juice which means a lot of the sweetness comes from fructose which is not a problem with Pompe. I just wouldn’t recommend throwing back 6 or 7 of the bottles in one day. The bottles are 16 ounces so they can be enjoyed over a couple days even. Mine is sitting the refrigerator right now, I take a swig now and then, but I’m sure it will last me a few more days and won’t contribute to too much more glycogen build up in my muscles.
My final verdict is that the Wizarding World of Harry Potter is yet another place that I CAN enjoy. A place where I CAN experience the attractions, food, and drinks!
See you there!

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.