Another Day, Another Infusion

Me every two weeks - forever!

I had another Myozyme infusion yesterday, and as par for the course it went well again. I am very grateful for that. We are out of the “danger zone” as far as looking for an adverse reaction with the initiation of the infusions. That doesn’t mean I couldn’t still develop something, but the chances of that now are greatly reduced. Or at least in theory as technically speaking Myozyme is a clinical trial drug for adults. I had my own private room this time, which was nice. I could turn off the lights and snooze in the bed or watch TV. Which is no big deal since daytime television leaves something to be desired.

 I am scheduled to start physical therapy next week. I’ll meet with a doctor at the facility and from there we’ll develop a regular schedule. Now comes the really hard part – the physical part. Being hooked up to an IV every two weeks is easy because the nurse and the IV pump do all the work. Physical therapy will probably wear me out – but in a good, healthy, productive way. Maybe I’ll even start to show small signs of improvement.

That being said, a lot of people have asked me if I’m feeling better after my infusions. Honestly, I can only say that I’m not feeling worse, but after a year of going downhill rapidly, not feeling worse for a few months is a

Good stuff in to take bad stuff out.

tremendous improvement. I have only had four infusions and it is still way too early to tell. The Myozyme, while it often referred to as the Magic Medicine, takes time to work. It will not “fix” me after just a few sessions. It could take months or even years before I see/feel an improvement and that is IF there is any improvement. This form of enzyme replacement therapy (ERT) is very new and as I mentioned is still technically in the clinical trial form for adults. The drug was only recently approved by the FDA for commercial use in children. Patients have not been on the drug long enough to really allow doctors to make any real predictions about how the drug will help and each case is very different. In essence all of us adults on ERT are lab rats and the results are pending. But every step now, is a step in the right direction – the long, long road of fighting Pompe. At least now with ERT I finally have a proper tool to fight with. Before it was like trying to fight a monster with a bubble wand – now I have a big club, so look out Pompe monster.

The Myozyme has a lot of work to do and it can’t do it alone. I have to help it through diet and exercise. My lack of the GAA enzyme has allowed glycogen to build up in my muscles for years, so the Myozyme has a lot of glycogen to pull out while keeping new glycogen from being stored at the same time. This is where the diet comes in. The less sugar and carbs I consume, the less glycogen needs to be stored and then fought by the Myozyme.

I think of my Pompe Disease as a runaway train. Until my diagnosis a few months ago, we had no idea how to stop it – or even what track it was on. The Myozyme helps slow the train down but it will never stop it completely. And the train has been running away for so long undetected that it will take time to slow down. During the train’s runaway days it caused some damage, some irreparable, along the way and we are now riding an ADA accessible transportation vehicle. Once the train has slowed to a reasonable speed the Myozyme can go back and try to repair some of the damage left behind. In the meantime, I can assist the Myozyme in its heroic efforts to stop the life threatening train by sticking to my diet and, soon to be implemented, exercise program. The train will continue to run away as no one knows where this Pompe Express will take us, but maybe just maybe it will slow down enough to let us relax a little enjoy the scenery. All aboard!

4 comments

  1. My dear cousin,

    I love to read your posts. You write so eloquently. Although I wish this was something you never had to go through, the way you explain things to us laypeople gives me a chuckle each time I board the train.

    I am so glad to hear your updates. Stay safe, keep fighting!!

    Love you always!!

    Lisa

  2. Hi, I know this was posted many years ago. I’m still going to give it a go with hope of a response. I recently had genetic testing (im a male) because my wife and I are working with a fertility clinic. I received my results back and I am a carrier of “Pompe Disease”

    I’m 37 years old and haven’t felt well for a boy a year and a half now. How do I go about of getting the correct tests to make sure I don’t actually have pompe?

    1. Hi Mike – sorry for the delay. I hope you have been able to get tested, if not please contact your local Muscular Dystrophy Association and ask about testing for Pompe Disease. If they cannot help you please contact Genzyme at 800-745-4447.

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