travel

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!

Status Quo

 

I’m dusting off the blog. I have neglected it. Does that mean there has been nothing to report, or that I have been too busy to sit down and write about it? Well, a little bit of both.

 

I’ve been busy with speaking engagements, but that has more or less become a regular event in my life. In fact, I’m heading to New York this week for another one. I always look forward to meeting new people in the patient community.

 

So what else have I been up to and where have I been? I spoke at a United Pompe Foundation  (UPF) meeting. This time the meeting was held near Duke University, which is one of the few places that has experts who not only know about Pompe Disease, but who are researching new and better ways to fight it. The meeting coincided with clinic hours – meaning patients could be seen by Dr. Kishnani and other specialists at Duke who really understand Pompe. This was especially beneficial to patients who don’t have access to knowledgeable doctors at home. The meeting and clinic appointments were very successful, even the “veteran” patients admitted to learning new things. The dates for next year’s meeting have been scheduled for April 18, 2013. Keep checking the UPF site for more information, or visit this Facebook  page.

 

Genzyme sent me to Nashville, Tennessee to speak to their travel agency about booking travel for patient speakers. I repeated the presentation via video conference about a month later. There really is an “art” that goes into planning and booking travel for patients. I also did a few presentations here in the Orlando area for both Genzyme and the Muscular Dystrophy Association.

 

Sprinkled between my commitment to Pompe education and awareness I of course had to include some personal travel. I’ve been on a few more Disney cruises and am boarding the Disney Dream again in about a week. I went up to Atlanta to visit with my friend Lonnie – who I’m cruising with next week. In October, my friends and I embarked on what we deemed our Epic Disney Vacation. We spent a week at Disneyland in California. I even arranged to have one of my infusions at UC Irvine under the watchful eye of Dr. Kimonis. We went up to Hollywood, visited my friend Matt at the Walt Disney Studios in Burbank, and played tourists at Universal Studios. After a week of California fun we boarded the Disney Wonder for a two week cruise to Hawaii and back.  The trip took a LOT of planning, but it was well worth it because the trip couldn’t have been better.

 

So, as you can see…it has really been fairly routine….for me.

 

Leanna and I with my favorite puppy at Disney California Adventure.

2011: A Look Back

And…..scene.

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.

January

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.

February

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.

March

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.

April

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.

May

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.

June

I spoke at a patient meeting in Tampa, Florida for Genzyme.

July

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.

August

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.

September

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.

October

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.

November

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.

December

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!

I’m going to Disney World!

EpcotEpcotEpcotI leave in a few hours for a week long trip to Walt Disney World in Orlando, Florida. I’m very excited to leave a huge chunk of reality behind.

 

Too bad I can’t leave the MD behind too – right? Disney is pretty good with making everything ADA compliant, but still the walking and the getting in and out of ride vehicles are challenging for me.

 

The MD is the only thing I can’t leave behind. So I’ve packed my supplements, my EMS machine and my disabled parking pass – see you when I get back.