Why do I do this?

I had a patient meeting yesterday in Knoxville, Tennessee. It should have been a a fairly easy journey – famous last words. They loaded about 10 of us on the plane and the Captain makes the following announcement: “Well folks, I don’t have good news. (At least we were still on the ground – geez!). The mechanics have inspected the plane and have found a problem with our right engine. That is all I know, but it was fine all the way here. We have stopped boarding and if you feel like you want to get off the plane you are welcome to do so. I will know more in about 10 minutes, but please expect at least an hour delay.” 


“Folks, it is not looking good. This plane is grounded until at least 3pm.” (Which is about 6 hours after the scheduled departure.) I found out later that the engine had to be totally overhauled and that plane was expected to be grounded for 24-48 hours. Delta did live up to their name “Don’t Ever Leave The Airport.” Seriously, they did a good job in a stressful situation. 

I was supposed to arrive in Knoxville at 1:30pm for a 6pm meeting. Delta tried to reschedule me for a 6pm arrival. When I told them why that didn’t work for me they found room for me on a flight that arrived at 4pm. The meeting was not close to the airport so the driver took me from the airport, to hotel to pick up the folks from Genzyme, and we went directly to the meeting. I changed clothes at the conference center.

The flight home was much less eventful. Except for the guy next to me who kept dropping his phone on my foot. Ouch! And the lady behind me who kept digging around in the seat pocket behind me. Yes, lady, that is my butt. I was already groped by TSA, so I’m all set.

And oh yes, I had to change planes in Atlanta – which I also hate. Not so much changing planes, but changing planes in Atlanta. Ugh! 

All that travel drama turned out to be worth the trouble. There was a patient who was diagnosed in the 60’s with some sort of “glycogen storage disease.” This patient now has a Pompe blood spot test kit and is making an appointment with their doctor. There were other key moments of this meeting, but this was the highlight. I would not wish this disease on anyone, but if it is between Pompe and another cruel disease for which there is no treatment, I think Pompe is the lesser evil. 

I would have been gutted if the plane delays had caused me to miss this meeting. This could change the course of a person’s life. This is why I put up with air travel for one night away from home in 30 degree weather. 

I am now going to curl up in my own bed and sleep until I have to get up for my next presentation. Tomorrow. Gainesville. 

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.

Did You Know…

Pompe Disease does not occur in adults. What?!?! That is what a neurologist recently told a patient. Again….what?!?!

A few weeks ago I was contacted by one of my cruise buddies. She has a friend whose husband is suffering from a mystery disease and has been trying to get properly diagnosed for a couple of years. My cruise buddy listened to the symptoms and asked if the woman’s husband had been tested for Pompe Disease as some of the symptoms sounded like mine. My cruise buddy directed her friend to my blog. After the woman had sifted through my ramblings about everything from headaches to accessible travel she decided it was worth considering Pompe as a possible culprit.

Armed with her new knowledge of Pompe Disease, the woman and her husband asked his neurologist if he would test for Pompe. The doctor, a neurologist, told them that Pompe does not occur in adults, nor does any other form of Muscular Dystrophy.

And this is where we pause so you can take a moment and really let that last sentence sink in.

Pause over. WHAT?!?!

The woman and her husband immediately decided they needed a new doctor. Good call. Even if this patient does not have Pompe, a new doctor who is up to date on current medical information is in order. Or at the very least a doctor who knows how to use Google.

The woman asked my cruise buddy to get in touch with me. Through a series of phone calls and emails I was able to help the woman connect with some experts in her area. I also suggested she contact the Mayo Clinic in case their diagnostic journey does not end with Pompe. The woman, armed with new information and contacts took to the phones with all guns blazing. Within a couple of days she had secured her husband an appointment with a new neurologist (one who has diagnosed and treated Pompe patients), sent his medical records off to the Mayo Clinic, and contacted Genzyme. Whatever the outcome is for this family, I have a feeling they are in good hands now. I hope their diagnostic journey comes to an end soon, so their next chapter can begin: Fighting Back!

In order to help this woman, I had to relay the situation to my contacts at Genzyme. The responses I received back ranged from “Wow” to “I gasped out loud when I read that.” There is still so much work to do regarding Pompe Disease awareness and education. I have come across several doctors, either through my own experience or through stories relayed to me by other patients, who have little information about Pompe Disease. This is the first time I have heard of a doctor giving patients really, really wrong information about Pompe Disease. Scary.

Lessons to be learned here? We can never assume our medical professionals are up to date about everything, especially something as rare as Pompe Disease. It is imperative to do your research, be your own advocate, and get a second opinion.

Bonjour Genzyme!

Last week I flew to Boston to speak to members of the French media about Sanofi’s acquisition of Genzyme. The French journalists were in town to cover the story from a “one year later” sort of perspective. They regularly cover Sanofi related news items, but Sanofi is new to the whole rare disease world and it was felt the best way for them to truly understand the latest edition to the Sanofi family was to visit Genzyme in person. Part of understanding Genzyme is understanding their unique relationship with their patients….enter moi!

Before I gave my presentation, Jamie from Genzyme talked about their patient advocacy department and why they feel it is essential to their success. A big….no, HUGE fear in the patient community was whether or not Sanofi would allow Genzyme to continue their business model in regards to patient relations. The Internet was ablaze with concerns about losing our case managers and local reps. Most of us depend on these people to guide us through the tangled world of rare disease treatment. The thought of having to navigate complicated insurance plans alone was frightening. Well, it is one year later and the impact on patient relations is basically a non-issue, in a good way. For most, it has been a seamless transition – which Sanofi was happy to hear. They reassured me that they never had any intention of cutting back on patient relations, that in fact it was one of the elements that drew them to Genzyme in the first place. It is good to know first hand that today, tomorrow, 6 months from now and beyond my case manager and local rep will still be there for me.

It was then my turn to present and I started out in French. I introduced myself then thanked them for coming and allowing me to share my story. Next I told them I was going to continue in English as my French wasn’t all that great. I took them through my “diagnostic oddessey” and explained how much my health has improved because of enzyme replacement therapy, diet, and exercise. They were a very engaged audience and asked loads of questions. I really enjoyed speaking with them, and hope I provided them with newsworthy information.

After lunch I met with members of the Pompe regulatory department. These are the folks who work with the wording on all the Pompe products and deal with the FDA. They have very little contact with patients so it was a treat for both them and me to meet and discuss Pompe.

Although I only spent about 27 hours in Massachusetts, I feel like a lot was accomplished. While there, I also got to catch up with ladies from patient advocacy and corporate communications over a couple of meals. At dinner I even met up with my Boston Marathon running partner. My runner from last year, Angela is not running this year so I was paired up with a new partner named Kai. She is amazing! She is an avid runner and has run the Boston Marathon in the past. She just had a baby a mere three months ago, yet is ready to hit the pavement next month with the rest of the Genzyme team as they all Run for Rare Diseases!

2011: A Look Back


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!

UF: The Pompe Hot Spot

George, Me, Dr. Byrne, Mike and his son, Brad, Allyson - my UF Pompe Peeps!

Last week I spent a couple of days in Gainesville playing lab rat to everyone’s favorite mad scientist Dr. Byrne at the University of Florida. The major focus of the trip was to enroll me in the observational study – it is the same one my friends Maddie and Emma are in. I had a walking test, strength test, pulmonary function test, blood draw and an MRI over the span of two days. These tests will be run every year for 5 years.

While I was taking the pulmonary function tests, I noticed that one of the tests was quite exhausting. I mentioned to Barbara, the respiratory specialist that it would probably make a decent pulmonary workout. She then got all excited because she had just started a study on respiratory muscle strength and function. She asked if I would like to enroll – and be her first patient/subject. Who me? The UF Pompe study addict? Another study to help not only the Pompe community, but that might actually improve my respiratory function? Yes please! Sign this lab rat up for another study at UF! So I now have a respiratory “trainer” that I will use a couple of times a week and I’ll record my “workouts” in a journal. She explained it was kind of like weight lifting for the respiratory muscles, I couldn’t do it everyday, I had to rest between sets, and could slowly increase the resistance over time. I’m excited to see if my respiratory function will improve.

About a year ago, Dr. Byrne had inquired if I would be interested in trying a new contraption out not knowing if it would help me or not….but he had a theory. And like a good little lab rat – who is always looking for ways to improve my condition I told him he could count me in not knowing what I was getting myself into. The “contraption” is a harness on a treadmill, from what I understand, it has been traditionally used to help patients with spinal cord injuries. I was placed in a rock climbing harness, which took some getting used to, and headed up to the treadmill. It was very difficult for me to “trust” the harness because I had absolutely nothing to hold on to and the harness was the only thing to keep me from falling to my death….ok, I was only a few feet off the ground, but in the Pompe world, even for short people, the ground is a long way down. The treadmill training was tough but well worth it, I was able to walk at a faster pace than usual – once I learned to trust the harness. I did stumble a couple of times and the harness was there to catch me. Some of the stumbles were a result of either one of my knees giving out or losing my balance. We’ll have to analyze the video to really understand. One of the goals of this “experiment’ was to retrain my body to walk more automatically rather than to use things to hold on to or analyze each step in my head. So, after they pulled me off the treadmill and took off the harness they had me walk up and down the hall. And you know what? I think I was walking a whole lot better than before the treadmill experience! What’s next for this? I’m not sure anyone knows, but I would do it again and again and push myself farther and farther if given the opportunity. This experiment opens up a whole lot of possibilities.

This trip also gave me the opportunity to visit with some Pompe peeps as right now Gainesville, in my opinion, is the hot spot for Pompe research. My first night in town, was also Allyson Lock’s first night in town – well sort of, her long flight from New Zealand got her to Florida at around midnight the previous night and a two hour drive to Gainesville from the Orlando airport meant she crawled into the bed around 3am. But when we met up, she was all bright eyed and bushy tailed – just like the squirrels she and Brad Gibson  are so fascinated by. I guess they don’t have those in Australia and New Zealand. Brad has been in Florida for about 6 months now. Both he an Allyson are participating in the BioMarin clinical trial for the next generation of ERT, essentially it is a safety study, but it is the only way either of them can receive treatment for Pompe as their governments still refuse to fund the life saving treatment. Brad’s treatments have been going well and he has a nice little exercise routine that he does and will try to get Allyson to do too. Allyson was getting all her preliminary tests done while I was getting my observational tests and such done. The good news is that she meets all the criteria and will get her first infusion on Monday, August 22!

Also hanging out at UF, is Mike Stanzione. You may remember, he has been stuck in the hospital for 4 years! Well, that mad scientist Dr. Byrne got to thinking and decided that Mike would be an excellent candidate for a diaphragm pacemaker. Mike is the first Pompe patient to receive this surgery and the hope is that it will allow him to go home, not home to the NJ hospital, but home home – to his family. The pacemaker surgery was August 15 and it went really well, now he has a lot of training to do over the next few weeks to allow his body to adjust and hopefully free him up from the ventilator from time to time.

I also got to meet Joseph and his family. They were in town from Alabama to see if Joseph qualifies for the gene therapy study Dr. Byrne has going. This is the next step in treatment beyond ERT – it is very promising for everyone. The gene therapy study involves injecting a virus into the diaphragm of young (under 16 years of age) Pompe patients who are ventilator dependent.

So, you see, it is a very exciting time research-wise for Pompe at the University of Florida. Dr. Bryne and his staff are incredible, they immediately put patients at ease and make them feel as if we are more than just “subjects” that we are actual patients they are trying to help. It would be so easy for them to just focus on the science and not patient care. But they understand how difficult it can be for us to get out to an appointment, so their goal for their patients is to develop a clinic setting, not far off from what Mayo does from what I can understand, that would allow patients to have their appointments all in one day and their specialists would communicate together putting together the best possible approach to each patient’s treatment plan. This may not seem like a big deal to those of you who only visit the doctor every so often, for a cold or a routine exam once a year. But with Pompe, it effects so many different systems that you really need a team of specialists looking out for you. In a non-clinic setting you would have to make appointment after appointment, days, weeks and even months apart with different specialists in your area who may or may not communicate well with one another. You would also have to, most likely, be responsible for transporting all your records from place to place. Having a clinic that is kind of a one-stop shop for all things Pompe make fighting this disease a little easier.

Go Gators!

Spring has Sprung


Beautiful weather and busy times are here! Today I am partaking in my pre-infusion Gatorade ritual, while trying to finish up some last minute work, and wait for it…I have to pack another suitcase!

Another suitcase? Yes. Over the past couple of weeks I have packed, unpacked, done laundry and repeated – I’m on my third round of packing now.

With Pompe Peep Kerri in Atlanta.

At the end of April I was invited to speak at a patient meeting in Atlanta, Georgia. It was a “Ladies Luncheon” hosted by Genzyme. Female patients of all ages and with different chronic conditions were in attendance. There were even two other Pompe patients there – which is always a special treat for me. I shared my story, or my “diagnostic odyssey” and related how I find the strength to fight through each day. I answered some questions, and I’m told – gave them hope and inspiration. That in turn, gives me the motivation to keep doing what I’m doing: fighting this blasted disease every single day and taking every opportunity to spread awareness and embrace the role of Patient Advocate!.

Hanging out in the Presidential Suite of our hotel with Genzyme’s Kathleen Coolidge.

After returning from Atlanta, I had two days to repack and head to Washington DC. Genzyme and MassBio invited me to speak to Massachusetts Congressional leaders – ok, their staff members, but still very cool! Me up on Capitol Hill and people listening to what I had to say – I could get used to that! Again, I relayed my story but focused on how my life has greatly improved because of biotechnology. Later that evening we attended a reception and the actual Congressmen attended and spoke about the future of biotechnology in Massachusetts. It was great, I met so many interesting people and had the best time. I was truly in my element!

With the help of some amazing women (thank you Trinity and Hillary), we have organized a fundraiser for our Pompe friends Allyson and Brad. The short version is that Allyson from New Zealand and Brad from Australia are participating in a clinical trial at the University of Florida. This is currently the only way either of them can get treatment for Pompe – you can read the long version HERE. They have to relocate to Florida from halfway around the world for 6 months! This can get pretty expensive, very quickly. My friend Trinity offered to help with a fundraiser because every little bit helps – and because she is awesome! We’ll be launching a Scentsy (lovely smelly-good stuff) fundraiser June 1 and it will run through the end of the month. 20% of the pre-tax funds raised will be donated to Allyson and Brad. I will post all the details about the fundraiser in about two weeks – so please be prepared to open your hearts and your wallets for our brave Pompe peeps from the southern hemisphere! Please DO NOT purchase anything yet because in order to contribute specifically to our fundraiser you have to go through a designated link – which I will post at the end of this month. But do please spread the word that we will be holding a fundraiser – your help and support is greatly appreciated.

And now for the suitcase that sits across the room, taunting me to fill it up again….I will be leaving in a few days for a wonderful two-week adventure! I’m sailing with friends on the Disney Magic to Barcelona, Spain.

Bon Voyage!

Marathon Monday


Monday, April 18th was the day of the 115th Boston Marathon. Over 24,000 runners from all over the world, took to the streets of Boston and pushed their bodies to the limit.

Everyone seems to have their own personal reason or reasons for running. For one runner, I was a reason. Angela DeLucco ran in my honor! You can read more about Angela and her fellow Genzyme runners HERE.

Angela finished the marathon with a time of 5:37:09. Way to go!

I will probably never be able to run a marathon, but on Monday I ran step by step with Angela – in spirit.

Congratulations to all the Genzyme runners! You are amazing!

Angela and I in Boston enjoying lunch at Genzyme. March 2011.

Genzyme’s Patient Advisory Meeting #1


Last week I found myself braving the fierce weather in Boston again – well, ok it was fierce for this Florida girl. Luckily, I still had my limited supply of winter gear handy from my recent trip to Europe (more on that adventure later). I had the pleasure of attending a Patient Advisory Meeting with fellow Pompe patients, parents, and Genzyme employees.


I love meeting up with others in the Pompe community and Genzyme always treats us very well. So while all bundled up and fighting a cold I caught in Europe, I spent the better part of Friday discussing the needs of the patient community and how Genzyme could help us with an amazing group of people, who I look forward to working with.

I would like to thank everyone who submitted information to me to take to this meeting, and rest assured I brought all of your concerns to the table and they are being addressed. This first meeting was really about getting everything “out there” if you will, and formulating a basic strategy on how to deal with the most common concerns – which seemed to center around improving communication and increasing/improving ways for patients to connect to one another.

As we move forward with things I will update you and I welcome your continued input and interest. This meeting was only the first step in a long journey which I believe will improve and strengthen our community.

Here we are enjoying dinner with our Boston tour guide Amy, who was kind enough to take the photo and bring us to this delightful Lebanese restaurant.

On a personal note, I took advantage of the “warmer” ahem, Boston weather and took a few extra days to site see with my best friend Vanessa. I have known Vanessa since we were 4 years old and she is an amazing supporter not only to me, but to the entire Pompe community. Whenever I have called for letter writing she is always the first to submit to the cause – and she is a fierce letter writer!

Coming Soon…


With my “Pompe Peeps” in London, March 2011. From left to right, me, Sam, Ben, Ashley. We had authentic Dim Sum in Chinatown - including chicken feet that Ben ordered and actually ate!

That’s right, this is another quick update and preview of information to come because my schedule is jam packed right now. I just returned from a trip to Europe with my friends Lonnie and Traci so there will be some Accessible Travel postings. While on my European adventure, I had the pleasure of meeting up with fellow Pompe warriors Sam, Ben, and Ashley in London as well as visiting the hospital in Amsterdam where Dr. Johannes Pompe worked. I have my 27th infusion tomorrow and then I will attend a patient meeting in the evening. On Thursday I fly to Boston to meet with Genzyme’s Patient Advisory Board and I will spend a few extra days exploring Boston with my best friend.

Other than being extremely exhausted, I am doing well and still fighting the good fight.