Last Monday I went to the University of Florida for my first clinic visit. We had to go over every page of the paperwork to make sure I understood all my rights and responsibilities, as well as the risks. Basically, I have to show up every other Monday on time for the infusions of Myozyme and keep the staff informed of my meds and keep a ventilator diary. I am not on a ventilator at this time, but I still have to keep one. If at anytime I wish to withdraw from the study they ask that I do give them some notice and not just stop showing up. They went over all the risks, most of which involve some sort of allergic reaction including anaphylactic shock including needing CPR, but those cases are really rare. Even with allergic reactions, minor or major, patients have been allowed to continue with the treatment. After the first infusion they will monitor me for at least two hours after the completion of the infusion. So the first infusion day will be the longest, they said to plan and be there between 5 and 7 hours and bring lots of books, a DVD player, computer, snacks, whatever. I am hoping I can just sleep through most of it. We also went over my medical history and my diagnostic history as well as my current care. The nurse told me that some Pompe patients have had some success with a high-protein, low-carb diet, which is something that has been hinted at online, but this is the first time I’ve received actual confirmation from a healthcare professional that knows what Pompe is, so I’m giving it a try.
I also completed all the paperwork to enroll in the Pompe Registry. This will allow my study doctor to view and enter my medical history into a database along with other Pompe patients. All the information in the database is protected and will be used by doctors and researchers to learn more about Pompe and hopefully will help them develop more treatment options. Anyone with a confirmed diagnosis of Pompe can be entered in the registry and the more data in the registry the better for all of us. All the information is strictly protected and all patient identifications are confidential. If you have been diagnosed with Pompe Disease and would like to be part of the registry, ask your doctor to contact Genzyme. You can learn more by visiting their website.
They also took a sample of blood to use as a baseline because they will look for antibodies in a few weeks. The blood draw did not go well. I have small veins, which does not bode well for having to get IV infusions every two weeks. They first tried to get it from my arm, but after they rooted around in there for a few minutes I passed out. They revived me with a cool rag and some Gatorade – hey they invented it at the U of Florida so that is what they give you when you pass out there! After I recovered from that, they were able to draw blood from my hand and they patched me up with a 101 Dalmatians band-aid – hey that is what you get when they draw your blood in the peds ward!
I return on March 15 for my first infusion.