Month: February 2010

I Will Get Treatment!

My trip this week to Mayo went very well. I met my new doctor and he has scheduled me for more tests and meetings with a physical therapist and the pulmonary specialist. He is also weaning me off of one of my headache medicines.

The real good news is that I was accepted into an ATAP study – basically a clinical trial for Pompe Disease where I will receive enzyme replacement therapy (ERT). This is great news! This will stop the disease from progressing and could possibly return some of my strength. I am scheduled for my first IV infusion on March 15, after that I will receive the treatment every 2 weeks forever or until another treatment can be developed. I will meet with the doctor who is heading up the study on March 1 and he will conduct some preliminary blood work at that time and I’ll sign my life away to medical science and officially become a lab rat.

It is such a relief to be scheduled for treatment for a disease that was once a mystery. Just think, it was only a two months ago that my aunt and I braved a blizzard in Minnesota in search for answers at the Mayo Clinic in Rochester and now on March 15 I will get my first treatment for Pompe Disease. I only found out about the ATAP study because a father of a young Pompe patient passed a ton of information on to me an encouraged me to “be my own advocate” and luckily I took his advice to heart and researched what was available for me. (Thank you Matt!) Openings in clinical trials are few and far between, had I waited who knows when another opening would have come up – if ever. I am lucky and thankful to the online Pompe community. There are only an estimated couple hundred people living in the US with Pompe Disease so we are small yet supportive community.

The Headaches

I think it might actually be safe to say that the new headache meds are working. The bad headaches have all but disappeared (I hope this doesn’t jinx it) and the not so bad ones are, well, not as bad. I still get headaches but aside from one or two really debilitating ones since starting this new medication I haven’t been sentenced to staying in bed because of them like I have in the past. I think the lingering headaches can be traced back to the problems I am having with my breathing, which the meds wouldn’t really be able to help anyway.

At least now I can somewhat function. Don’t get me wrong, if my head hurts bad enough I don’t want to go into a noisy situation, I just don’t find myself lying in bed with ice packs for days on end. So, a notable improvement which is something that has been a long time coming.

I’m off to Mayo in couple of days to meet with the muscle disease expert, maybe he’ll be able to offer a plan that will lead to improvement in other areas.