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!

The Kiwi Report

After nearly 30 hours of traveling, finally arriving in Wellington, New Zealand!

I’ve spent the entire week trying to recover from jet lag from my 30 hour journey back from New Zealand. Twice this week I have watched the sunrise. Between the long flights, long layovers, and of course the time difference, I have been struggling to get back on a normal schedule. But it was all worth it because I got to spend in a week in New Zealand playing a small part in the fight for Pompe patients’ right to receive enzyme replacement therapy (ERT).

In New Zealand they have a government run department called PHARMAC. Since New Zealanders are “entitled” to “free” health care it is important to keep the costs down so treatment is available to most of the people. There are 4 million people living in New Zealand and 5 of them are currently dying from Pompe Disease, even though there is an effective treatment available – ERT. PHARMAC feels this treatment is too expensive, so the Pompe Kiwis go without. Applications made by patients and doctors for the approval of ERT have been denied with PHARMAC stating that although patients would probably benefit from the treatment, the price is just too high.

However, I believe the public feedback PHARMAC received from stating the price was too high forced them to retreat and bring the question of efficiency to the table. The ugly public backlash and slew of angry letters has mysteriously gotten PHARMAC to now say they are not sure how effective the treatment really is, that there is not enough evidence proving it does any good. They are now saying that what improvement may be experienced, is just not enough to justify the cost. I feel they know this treatment works, but had to bring cost back into play to justify denying this treatment to the patients, as placing the sole reason for denying treatment on the cost proved to be very detrimental to PHARMAC and the government – in an election year.

With a member of the New Zealand press in front of Parliament's famous Beehive building.

I was asked to join Lysosomal Diseases New Zealand’s (LDNZ) campaign to try to once again get funding for ERT approved. The day after I arrived I met up with some folks from the LDNZ, the Muscular Dystrophy Association, and 3 of the local Pompe patients. We headed up to Parliament where we met up with a journalist from Radio NZ. We passed through security and approached the reception desk. John, from the LDNZ put in a request to meet with Prime Minister John Key. During his last campaign, John Key, had promised to make orphan drugs accessible to New Zealand patients. That hasn’t happened and he is on the eve of another election, so it seemed like a great time to ask him about this seemingly forgotten campaign promise. We knew the Prime Minister was not in the building because he was attending a funeral elsewhere. It was our hope that a member of his staff would meet with us. The receptionist told us that a member of the Prime Minister’s staff would be down to meet with us shortly. We waited in the lobby and the reporter from Radio NZ interviewed us individually. Note: she kept her recorder running the whole time and captured everything, including the receptionist confirming with the Prime Minister’s office that someone would be down to meet with us. After waiting about 20 minutes or so, a security officer came over to speak to us. He informed us that no one from the Prime Minister’s office was coming to meet with us and that we had to leave. What? We were not causing a scene and this was a public building…oh, and we were just told that someone was coming to meet with us. The security officer was adamant that no one was meeting with us, and that we had to leave immediately. It became a sort of stand off between us and the young security guard. We were in a public building and we did have an appointment in a few hours with a member if the opposition party, Grant Robertson. The security officer then made some phone calls and came back to tell us that Grant would see us right away. We were escorted out of the Beehive lobby and into the adjoining building where Grant met with us.

From left to right, Laurie (patient), Grant (MP), Frieda (patient), Jenny (from LDNZ), Marty (from the MDA), Me, Dean (patient).

Grant is the MP for Wellington Central, Spokesperson for Health and Associate Spokesperson for Arts, Culture & Heritage. Grant listened to us as we relayed the mornings events and he apologized for how we were treated by the Prime Minister’s office. He was very interested in hearing how I had benefited from the treatment, how it was administered, and how much trouble I had getting my insurance to cover it. I told him how over 50 other countries have found a way to make this treatment available to patients. Grant encouraged us to continue to try and get in with the PM’s staff, specifically his Health Advisor. If Grant’s party were to win in the election, he would most likely become the new Health Minister, replacing Tony Ryall. He confirmed our theory that Tony Ryall couldn’t really do anything about the matter, that change would have to come from either PHARMAC or the Prime Minister as the Health Minister is bound by legislation that doesn’t give him the power needed to approve this treatment.

Radio NZ aired the piece about us getting turned away at Parliament on their noon broadcast. This immediately got us more media attention. The next day we met with producers from two television stations. They filmed us outside the Parliament building which brought on the attention of several security guards, but no one asked us to leave. They interviewed each of us, and again a special interest was taken in how well the treatment is working for me.

That afternoon LDNZ and the New Zealand patients hit the phones and started talking to their local media contacts about the situation. I called PHARMAC and tried to secure an appointment with their Medical Director. After talking to several people in his office, his assistant called Jenny from LDNZ back and said he would be willing to meet with me – but that they are aware of what we are doing with the media and we are not to allow the media to follow us. We agreed and the meeting was set up for the next morning.

Jenny and I arrived at PHARMAC several minutes before our meeting and waited. I was armed with my own medical data as well as data from two other Pompe patients who are being treated with ERT. The data showed stabilization and improvement of our respiratory functions. I also printed out a copy of the LOTS study.* Despite several warnings from others who had encounters with him, PHARMAC’s Medical Director Peter Moodie was very personable to us. Jenny was very surprised. I detailed how poor my health was and how fast I was dying before treatment and how much my condition has improved with treatment. Even he said my improvement was remarkable. I gave him my test results along with those of the two other patients which he showed a great deal of interest in. I stressed that this treatment needs to be approved for the New Zealand patients as soon as possibly, because they will just continue to decline and ultimately die of Pompe Disease without it. He asked if I had known about any problems in America with getting insurance to approve it, I told him that sometimes the insurance company would just need a little persuading from the prescribing doctor. For the most part, American patients can get access to the treatment. He asked if anyone was monitoring my progress as part of a long term study – yes, Dr. Byrne and the University of Florida will study me for the next 5 years at the very least. I told him that the New Zealand patients cannot afford to wait for these long term studies, that the long term studies in mass don’t exist, “I am the long term study.” He tried to express his understanding, but that he had a responsibility to all the people of New Zealand. Basically, he couldn’t blow PHARMAC’s budget for just a few people. It made it sound like Allyson, Frieda, Dean, and Laurie were just casualties of war. I told him that he better figure out how to fund treatments for rare diseases because more will be coming to market and it is inexcusable for the government to continue sentencing their people to death over a price tag. He thanked me for my time and for sharing my story with him. He invited me to send whatever data I could gather to him to help prove that ERT is effective. When I arrived back home, I sent him another publication sent to me by Dr. Byrne along with a couple of letters supporting the benefits of ERT from two doctors in England. PHARMAC only responds to data, and unfortunately there is not a whole lot out there, but I know that is not the real issue – the real issue is cost.

With all the money they spent on Happy Feet the penguin and not to mention the Rugby World Cup – don’t cry broke with me then go on a shopping spree with tax payer money, only to refuse to spend tax payer money to save the lives of those tax payers. It became very clear during the course of this meeting that PHARMAC’s model is not set up to process high cost treatments for rare diseases. They do an excellent job at keeping the cost of drugs down for the masses, such an excellent job that other countries are looking to copy their model.

What needs to happen is either the Prime Minister needs to overrule PHARMAC’s decision to decline ERT, like he did with Herceptin (the breast cancer drug) or a new department needs to be set up to deal with treatments like this.

So where do we go from here? We will continue to play PHARMAC’s game and supply them with the data as it becomes available. LDNZ will ride the media wave we started and continue their campaign in the media and with Parliament, using the election to put pressure on the Prime Minister‘s office. Angry letters to PHARMAC and the Health Minister will be useless as neither can approve funding under the current model. Plus, PHARMAC is only set up to make decisions using data. I took 26 letters from the patient community supporting ERT and it was like I was offering to put hieroglyphics in front of these people. They don’t understand hieroglyphics, they only understand data. A new department for handling this type of situation needs to be formed, this is also within the Prime Minister’s power – and quite frankly, his responsibility to the people he represents as this was a campaign promise. If the Prime Minister continues to ignore his own campaign promise, then we need to take the long way around – the slow and steady route of getting a new department formed by way of a Member of Parliament, (like Grant, for example) sponsoring a piece of legislation and having the other Members vote on it.

I will gather all the media links from my trip and post it in one spot. I will also write up an entry on the non-business related activities I enjoyed while in New Zealand, you know the fun touristy stuff!

 *From the New England Journal of Medicine, Vol. 362, No. 15, April 15, 2010, A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease, A. T. van der Ploeg and Others.

Summer Rewind

Pompe Peep Brad, my Uncle Gary, me, my Aunt Jan, Pompe Peep Allyson, and my Dad at Epcot

Life is never dull and the last few months have been crazy busy. So crazy busy, that I am ridiculously behind on updating my blog. I have been traveling and entertaining guests here in Florida as well. I will do my best to catch every one up on my comings and goings… but offer no guarantees. Hold on tight because here we go…..

Since I last blogged, I have attended a couple of patient meetings. One in Tampa for Genzyme, which was a nice relaxing dinner meeting. Just me a couple of the cool peeps from Genzyme and two other Pompe families. I also spent a couple of days in California. The United Pompe Foundation  invited me to speak at their meetings in Los Angeles and San Bernardino. This gave me the opportunity to meet with some new Pompe folks as well as get caught up on all the research that is being done by Genzyme, BioMarin, and Amicus Therapeutics. The United Pompe Foundation had a great line-up of presenters, including a representative from Medic Alert. We have been working on coming up with the ideal text to put on a Medic Alert bracelet that can be understood by EMTs and emergency room doctors….all in only 75 characters. There is a lot to tell a medical professional in just 75 character, especially taking in to account that many will have no idea what Pompe is. We are closing in on text that all involved can agree upon and when that is settled I will post the information here.

With my friends Robyn and Matt at Disneyland!

Since I was flying all the way to California, I decided to extend my stay by a couple of days to catch up with some friends and hit up my old stopping grounds – Disneyland. Disneyland was where I spent most of my childhood and teenage years, it was the location of my first job. I worked at the restaurants in Fantasyland when I was in high school. The weather was great, I made new friends at the meetings, met up with old friends, got to enjoy In-N-Out and Disneyland – all in all, a wonderful trip.

Back home in Florida, I have had lots of visitors….well, I kind of had to share them with Mickey. It was like a rotating door of visitors. Family, friends from the transatlantic cruise, friends I used to work with, Pompe friends, and of course my most frequent visitor Lonnie. It never gets old showing people around Walt Disney World. Everyone should visit at least once in their lifetime.

With my cruise buddies playing trivia. Our "Smarticle" hats helped us win!

Speaking of cruise friends…a bunch of us got together and decided the first transatlantic Disney cruise was so much fun that we needed to do it again! So me and 20 or so of my closest and craziest cruise buddies headed to Barcelona, Spain in September for another 2 week adventure at sea onboard the Disney Magic. It was wonderful! Another adventure I highly recommend….take a long cruise once in your life. With all the hustle and bustle of our daily lives, it is nice to get on a cruise ship for two weeks and just let someone else take care of all your needs. And for those of you playing the home game, yes, that means I have spent 35 days on a Disney cruise ship in one year.

And now we transition to my latest adventure. On Saturday I will board a plane for the longest plane flight of my life – yes, longer than when I was flying to China from Las Vegas. I will fly from Orlando, Florida to Wellington, New Zealand. I have been asked to help the Lysosmal Diseases New Zealand (LDNZ) patient group with their campaign to secure funding for enzyme replacement therapy. I don’t know yet, exactly what they have in store for me, but I know it will involve the media and they are trying to secure meetings with political leaders. I will meet up with 4 New Zealand Pompe patients and we will do our best to convince the powers that be that ERT is life saving and it does make a difference. How can they stare ME in the eye and tell me it doesn’t work?

How can you help?

If you or someone you know has benefited from ERT for Pompe Disease, please let me know. Leave a short, but detailed comment about how ERT has saved and improved your life. I will take all these with me and share them with whomever will listen. I will be arriving in New Zealand on Monday and we will be hitting the media circuit on Tuesday, so please try to submit your testimonials over the weekend – while I am enduring the longest flight of my life. But it will be worth it if we can get them to approve ERT for our Kiwi friends.

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!

Fundraiser Success


Thank you to everyone who supported our Scentsy fundraiser for Pompe Peeps Brad and Allyson. A big thank you to these super stars who placed orders during the fundraiser:

Kimberly Yakabi

Amy Atwood

Lonnie Tuttle-Williams

Kari Hickey

Cheryl Tuttle

Bonnie Barkley

Nina Cataldo

Susanna Cataldo

Margie LoDuca

Jenn Bunn

Jill Bouska

And of course another big thank you to our Scentsy Consultant Trinity Lawrence. I hope everyone is enjoying their Scentsy products as much as I am!

We managed to raise enough money to send each of them a Visa gift card. Brad has already received his gift card, and Allyson’s card is waiting for her at the University of Florida – she arrives in just a few days!

A few weeks ago I had the opportunity to meet up with Brad. He is doing really well and has noticed an improvement in his overall health since starting the drug trial.

Here are the latest news articles on Brad and Allyson.

I have a ton more updates to post, but I have been a bit occupied with back to back to back visitors as well as my usual Pompe adventures which include a couple of patient meetings, some media interviews for the MDA, and my 6 month check up at the Mayo Clinic. So please be patient with me as I try to get everyone caught up.

Fundraiser Update


I have an update on the Scentsy fundraiser for our Pompe Peeps Allyson and Brad. Orders can be placed and shipped to the United States and Canada only. I apologize for any inconvenience this has caused anyone in the UK or Germany who have tried to place an order. However, if anyone in the UK or Germany would like to either host their own fundraiser or even become a Scentsy consultant please feel free to contact Trinity through her web site HERE.

Here is the stylish plug in warmer I ordered. Just plug in your warmer and the low watt light bulb (included) warms the wax and fills the air with your favorite scent.

There is just over a week left to place your order for the fundraiser. Click HERE to be taken to the fundraiser web site. Remember a portion of each sale will go to help with Allyson and Brad’s expenses – which will be considerable. They are leaving their homes and families in New Zealand and Australia for 6 months to participate in a clinical trial that will help save their lives. Their participation in these trials will also help other patients – including me!

So please consider purchasing some great Scentsy products before the end of the month to help these two pioneers out. You won’t be disappointed with your order – I love my warmer and scents, and I am going to place another order because I love them so much! They also make great gifts!


Break of a couple of squares from your Scentsy bar or brick and place them in the warmer - it’s that simple. These are the bars I ordered (Sugar Cookie, Beach, and Peach a la Mode) - what will I order next?

If you have any questions about Scentsy products please feel free to contact Trinity through her web site HERE. I can tell you these products make your home smell wonderful and put traditional candles and other plug-in type products to shame. There is a perfect size warmer for every space. I have a smaller place so I opted for the plug-in warmer and it fills my home with yummy goodness (currently warming Sugar Cookie). My friend has a huge two story home and uses a large warmer which all by itself fills her gigantic house. They have warmers you can decorate yourself with a kit and even warmers that support your favorite college.

There a several scents to choose from and you can even mix them up to create your own custom scent! The possibilities are endless!

The fundraiser ends Thursday, June 30 – so hurry!

Thank you for your support!

Fundraiser! Imagine That!


Imagine you have a life threatening illness for which there is no cure – only a treatment. Now imagine that the treatment is only available half a world away and you would have to leave your family behind for 6 months in order to receive this treatment. Imagine the emotional and financial burden this would put on you and your family. For Brad from Australia and Allyson from New Zealand, they don’t have to imagine it – they are living it. Read more about Brad and Allyson’s journey to America HERE. While there is little we can do as a community to ease their emotional burden, we can band together and try to alleviate some of the financial burden.

My dear friend Trinity has graciously volunteered to host a Scentsy fundraiser for Brad and Allyson. 20% of the sales will be donated to Brad and Allyson directly to help them with their day to day needs. Every little bit helps in a situation like this.

The fundraiser will run the entire month of June. Orders can be shipped to addresses in The USA, Canada, The UK, and Germany only. Scentsy offers great products that smell so wonderfully good – and they make great gifts!

Wouldn't this look lovely in your home?Simply visit Trinity’s Scentsy page HERE and click on “My Open Parties” and select “Fundraiser for Pompe Peeps/Brad & Allyson.“ VERY IMPORTANT: You MUST click on the correct “party” link in order for the funds to be earmarked for Brad and Allyson – changes cannot be made once the order is placed.

Alternatively, here is a direct LINK to the fundraising page for Brad and Allyson.

Please forward this fundraising information to everyone you know – because every little bit really does help.

Imagine what we can do when we all stick together. Now go shopping for some lovely smelly good things, and imagine how wonderful your home will smell for a good cause!

Thank you, one and all.

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!