Lumizyme “on the go”

In October I took a 3 week vacation, one my friend Leanna and I dubbed our Epic Disney Vacation. We spent a week in Anaheim, California exploring the Disneyland Resort, and then took a two week Disney cruise to Hawaii. My Lumizyme infusions are scheduled for every two weeks, so obviously some arrangements would need to be made. I become terribly fatigued and my muscles start to ache if I miss a treatment. It is a huge set back in my crusade against Pompe when my treatment schedule is interrupted.

I started working with my Case Manager at Genzyme months in advance to arrange a Lumizyme infusion while I was away from home. My infusion needed to be scheduled for the first week of my vacation because that was the only time I would be “on land” long enough for it to take place. Dr. Byrne asked where I was staying in California and found a colleague who worked close to Disneyland. Dr. Kimonis at the University of California Irvine agreed to take me on as a patient and supervise my infusion.

My Case Manager worked with the Case Manager for the Irvine area and lined up all the approvals with the hospital and my insurance company. I filled out my paperwork a few weeks before we left on our trip and confirmed my appointment. My first “on the road” infusion couldn’t have gone smoother. Everyone at UC Irvine was so helpful and their infusion chairs are the best I’ve sat in. Everything is push button, to recline, or put your feet up, watch TV, or call your nurse, you just push a button on a single remote. The chair even had heat and massage features.

I do not think this is something that could have been pulled off on short notice. It took a lot of people working together to make it happen. For that, I am very grateful. Had this California infusion not been arranged I would have gone about 4 weeks without a treatment. That would have left me feeling pretty cruddy during the cruise.

With careful planning it is possible to make this sort of arrangement for your infusion. Of course it depends on your insurance, where you are going to be, and probably a few other factors, but I believe it is worth trying if you want to travel and not miss an infusion. Be sure to give your Case Manager plenty of notice to help make arrangements for an infusion “on the go.”

Disneyland, October 2012 with my friends Robyn, Elysse, and Leanna. I’m full of energy because of my Lumizyme on the go!

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

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

Seeking FDA Approval – Again

Genzyme hopes the FDA will approve their drug alglucosidase alfa (which is my ERT drug) on June 17,2010. The odds are mixed to whether or not this will finally happen as they have been seeking FDA approval for commercial use of this drug for years. They have experienced set-backs in the production of this drug at their manufacturing plant in Massachusetts.

Anticipating growing global demand, the company was moving production of Myozyme from Allston and a smaller facility in Framingham, Mass to a larger 4000 liter bioreactor scale in Geel, Belgium. However, upping production from 160 liter bioreactors to 2000L and 4000L scale-vats required that Genzyme submit supplemental Biologics License Application (BLA) to both FDA and European regulators, as the agencies insist that similar biologics produced in dissimilar bioreactors cannot be considered identical products, due to differences in the carbohydrate structures of the molecules in the so-called brews. Confused? That’s OK: the bigger tubs of alglucosidase alfa will continue to be sold under the Myozyme brand in Europe and under the Lumizyme title stateside. — BNET.Com, November 19, 2009, “FDA Delays Genzyme’s Lumizyme, Manufacturing Problems Blamed” *

What this means for Pompe patients is that, if it is approved those not currently receiving the drug through an ATAP study should be able to get it. And for those of us in an ATAP study, the study will end and we’ll join everyone else in the commercial use of the drug – and having to pay for it. Let the insurance battles begin!

To view the full story click here.

The First Infusion

My first Myozyme infusion went really, really well. I didn’t even get a bruise from the IV. It was just an extremely long day.I had to arrive early in order to take a pregnancy test as they won’t administer the drug to anyone who is pregnant because they don’t know what the risks are to a fetus. So after we finally got the test results the pharmacy could then prepare the Myozyme. It takes an hour to mix and because of the expense they have to shut down the entire pharmacy during this time. The IV bag of Myozyme arrived to the infusion center around noon where they had already inserted my IV and had kept my vein open with saline while we waited for it to arrive. They hooked me up to the Myozyme and the actual infusion was complete in 4 hours. They took my vitals every 30 minutes and my blood pressure and temperature remained consistent throughout. I didn’t feel a thing. The Myozyme was not cool or hot coming through the IV, it didn’t feel any different than the saline. It looked light blue coming through the tubing, they could have been infusing me with blue Gatorade for all I knew. After the infusion was complete they flushed the tubing with more saline to ensure I received all of the Myozyme and then I was monitored for two hours to make sure I didn’t have any adverse reactions.

Next time it shouldn’t be such a long day as they won’t have do a pregnancy test and they won’t have to monitor me for two hours after the infusion. My next infusion is scheduled for March 29 (and theoretically every other Monday after that).

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.