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
Wow! That is some serious progress! So, how are you feeling after your seventh infusion? Are you feeling some changes? This is really great news that the Doctor’s are taking you seriously and not just blowing you off.
I’m a little tired today, but yesterday was a really long day. The car picked me up at 7:30am and I didn’t return home until almost 8pm. But I still feel like I’m making progress – so yeah!
Pingback: More “Magic Meds” Media « M.E.G.'s Confessional
Hi Megan! I am looking back at old blogs….I don’t even know if you will get this…..I also have Pompe, and have been receiving Lumizyme infusions every 2 weeks since March 2011. I also feel that I am making progress, in that the disease seems to be “slowing” its progression. You have been having treatments longer….I am wondering, do you see any improvement?….or are you just seeing a “slowing” or even a halting of the progression? I hope all is well with you! I don’t personally know anyone else with this disease, but I am convinced that my Dad had it. I am hoping & praying that no other of my family members end up with it!
I have experienced a lot of improvement! I have been working with a physical therapist since before my diagnosis and I stick to a strict low carb diet. My breathing has dramatically improved and I have been able to regain strength in some areas while others have remained the same….but have not gotten worse. It is a lot of work, but it is better than the alternative. Keep Fighting!
I’m a bit late in replying to this Karen, but I’ve experienced a lot of improvement too. I’ve been on ERT for 18 months today. I was completely dependent on a bipap at night, or anytime that I laid down. I’m off it for the most part now. Very excited about that! I’ve got general muscle strength improvement so I’m much more functional. I hope you see a turnaround in your symptoms. This stuff does work!
Thanks so much for replying! I am so glad to hear that you are experiencing improvement! I am also dependent on a bipap at night, as well as 2 liters of oxygen bled into the bipap. So far, I havn’t seen any real improvment, but in the same respect, according to my Mayo Dr., earlier this month, I haven’t worsened, so that’s a plus!!! Iwill continue to push forward for improvement in strength. I appreciate your encouragement! We are afterall, all in God’s hands, and if He brings us to it, He will bring us through it! May God bless you, and your family! Sincerely, Karen
One of the things that I’ve learned (I think many of us have) is that we have to be our own advocate. I always openly question what I’m told. Not all doctors like to be questioned, but if that’s a problem for them, I don’t want them on my team. Since Pompe is so rare, most doctors have never seen it. Those that have, haven’t seen much of it.
I mention this because I see in your comment Karen that you’re on supplemental O2 at night. Please be careful. There is concern, which makes sense to me, that those if us with impaired breathing due to muscle insufficiency should not be given supplemental O2, but rather be on high-span bipap.
There are two problems that our decreased muscle strength causes. The first is obvious, which is not enough O2. The second isn’t so obvious, which is too much CO2. By solving the O2 problem with supplemental O2, we might not be addressing the extra CO2, which is just as bad.
Your doctor might have already addressed this, which would be great. If not, it may be a good idea to discuss it with them. Here are a couple links for reference. The first is Dr Bach’s website. He spoke at the AMDA/IPA conference in Texas in Oct, 2011. He was excellent. It’s not a great website, but there’s good info there. Especially take a look at the Emerg Room Precautions. That’s interesting. The second link is for a study that was done with patients with similar problems to ours. This was a review of records for 118 patients so it’s good info.
Brad
http://www.doctorbach.com/
http://www.ncbi.nlm.nih.gov/pubmed/7898136?dopt=Abstract