As the curtain closes on another year, it is time to quickly look back before moving forward. I know, how cliché right?
2011 was a productive and exciting year for me. It was filled with a fair bit of travel, a lot of which centered around Pompe patient advocacy. The year concluded with me receiving my 42nd Lumizyme infusion and a few new stamps in my passport.
I was invited to Boston, Massachusetts to speak at Genzyme’s annual marketing meeting… in between snow storms. While there, I was asked to serve on their Patient Advisory Board.
I met up with Pompe peep Karen who was in town visiting friends. Karen is a Pompe trail blazer in her own right. While I may have been the first Lumizyme patient, Karen was one of the first adult patients to receive enzyme replacement therapy through clinical trials years before Lumizyme received FDA approval.
I returned to Boston for a Patient Advisory Board meeting at Genzyme. After the meeting my friend Vanessa flew in to join me, and we spent the weekend exploring Boston together. Later that month I ventured to Europe with my friend Lonnie and her sister. While in London, I had the privilege of meeting up with 3 Pompe patients from the area.
I spoke at patient meeting in Atlanta, Georgia for Genzyme. The trip to Atlanta also gave me a chance to visit with my friend Lonnie at her home in Athens….during a tornado warning.
Genzyme flew me to Washington DC to speak to members of Congress about the importance of biotech research and development. After all this “hard” work, it was time to relax for a bit, so I took a two week transatlantic Disney cruise from Florida to Spain.
I spoke at a patient meeting in Tampa, Florida for Genzyme.
I spoke at patient meetings in Los Angles and San Bernardino, California for the United Pompe Foundation. While in California, I met up with some friends at Disneyland.
I headed back up to Gainesville, Florida and Shands at the University of Florida. I am participating in a long term study for Dr. Bryne. I also enrolled in a respiratory study that allows me to try and improve my breathing by using a respiratory trainer. I’m always willing to try something new, so Dr. Byrne got me up on a treadmill while in a harness. It was sort of an experiment to see of there was any possible research or therapeutic value in this type of approach to exercise.
I was asked to appear on the Muscular Dystrophy Association’s annual telethon again. Over the summer I visited with two of the hosts at their radio station and pre-taped a segment for the telethon. They aired the segment and also interviewed me live the day of the telethon.
About 20 of my friends from the transatlantic decided they wanted to do the return trip, so I joined them. We all met up in Spain and took another two week Disney cruise all the way back to Florida.
The Lysosomal Disorder New Zealand patient group flew me to Wellington, New Zealand to help with their campaign to secure treatment for patients there. I spoke with members of Parliament, the media, and the head of PHARMAC. The battle continues in New Zealand as we head into 2012, the Pompe patients there desperately need enzyme replacement therapy and soon.
When I returned from New Zealand my own infusion was delayed due to paperwork. Why don’t pencil pushers realize how critical this treatment is to our survival?
I also spoke at a patient meeting here in Orlando along with several specialists from the University of Florida, including Dr. Byrne. The meeting was hosted by the Muscular Dystrophy Association through an educational grant from Genzyme.
It was uncharacteristically quiet which turned out to be a good thing as my health really started to decline as I waited for my next infusion. I ended up going 4.5 weeks without Lumizyme and I really felt horrible. The pain in my muscles as well as the headaches returned. My respiratory function even declined, which was a huge step back for me. When I finally received my infusion, I could immediately feel the difference. I’m back on track with regular infusions, but missing just that one really took a toll on me. I still don’t think my respiratory function has returned to where it was before my missed treatment.
I met up with Dr. Byrne at Downtown Disney and I invited to join Brad, Allyson, and me at the Magic Kingdom the next day. Dr. Byrne was in town for a conference but was able to sneak away long enough to spend a few hours playing with 3 of his lab rats….er, Pompe patients.
Allyson came down to Walt Disney World and we attended Mickey’s Very Merry Christmas Party.
A couple of days after the party I was on a plane to California. It was a spectacular Christmastime celebration at Disneyland with friends from elementary school, high school, and college.
Allyson’s family from New Zealand arrived at the end of the month. We passed the time waiting for their flight to arrive at Downtown Disney where we ran into Pompe celebrity/hero John Crowley!
When I was actually in town, I had several visitors, many of whom I had met on my Disney cruises. Friends from all all over the United States, Canada, Australia, New Zealand, and England visited the “the House of Mouse” and me this year.
Perhaps 2012 will be filled with even more opportunities to advocate for patients. I mean, how many people really get the chance to make a difference in the lives of others?
It was my hope to return to work in 2012, but missing just one Lumizyme infusion set my recovery back more than I had expected. Time will only tell what the future holds for me.
What I do know, is there’s a lot of hope on the horizon for Pompe patients. The next generation of enzyme replacement therapy is currently in human clinical trials and a chaperone drug is about to enter human trials. Additionally, there is the amazing work Dr. Byrne is doing in gene replacement therapy which is also in human trials and is showing great promise for our younger Pompe warriors.
2012, the Year of the Dragon….how appropriate. Keep fighting!