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!

The Lab Rat Chronicles

Over the summer I participated in the Amicus Therapeutics AT2220 Trial. The clinical trial is a safety study of a chaperone drug. The study drug basically does what the name suggests, it works alongside Lumizyme and “chaperones” it, making sure more if it gets delivered to where it needs to go. It is an oral (liquid) medication that is taken about an hour before starting regular enzyme replacement therapy (ERT).

I participated in the study at the University of Florida (UF) – where else? The team up there asked me to participate over a year ago – which should give you an indication about how long it takes to set something like this up and running. Additionally, it is a pretty big commitment on the part of the patient (lab rat) as well as the medical team. I had to commit to 6 separate, carefully timed appointments just to receive a single dose of the trial drug. I underwent several tests, including a couple of punch needled muscle biopsies, hourly blood draws during my infusion, and a couple of overnight stays in the hospital – all in the name of science.

The team at UF is amazing – but that is nothing new to those in the know about Pompe. Of course, I was a little nervous testing a new drug, but I knew I was in expert hands. After all, this is where I first started my ERT, before it received FDA approval and I’ve yet to grow a second head. In all seriousness, I couldn’t ask for a better place to be or with better people to work with. Not only is everyone so knowledgeable about Pompe and all the emerging research, they are simply a great bunch of people – the kind you just want to spend time with socially. It really makes having a sucky disease like Pompe a little less sucky.

The clinical trial is being conducted in 4 cohorts, or groups, each of which will receive a different amount of the trial drug. Patients in cohort 1 received the smallest dose, while those in cohort 4 received the largest. I was in cohort 3 and the trail should be wrapping up very soon. Preliminary data from cohorts 1 and 2 are showing promising results.

It could be a couple of years before the next phase of the trial begins, meaning more patients and more doses. Clinical trials are very closely regulated by the FDA and the smallest little mishap could set the whole study back. Which is why things can seem slow going, but it is really in everyone’s best interest that everything is done exactly right down the tiniest detail. The smallest error could result in a big set back.

Would I participate in a clinical trial like this again? More than likely, yes. I would have to take all the factors into consideration, it really isn’t something to be entered lightly. As I mentioned, it is a pretty big commitment time wise, which can seriously cut into my travel plans. It would also depend on who was running the trial. If it was Dr. Byrne and his crew up at UF and I had time – then, yes, sign me up.

Your Loyal Lab Rat

Easy (well, easier) IVs


Needing an IV infusion every two weeks for life makes the subject of IVs and ports constant chatter in the Pompe world. Like most debates there are those for and against ports. On infusion days many of my Pompe friends brag about a “one stick” day or vent frustration over a “3 or more sticks” day. No one likes getting stuck with a needle, especially over and over again, which is often when the port verses no port debate arises. I come down strongly on the “no port” side as I’ve already had enough slice and dice done on my body for this blasted disease and I really don’t mind the needles – as long as I don’t have to watch. I do everything I can to prepare my body for a “one stick” day. 

If you’re having trouble with getting “stuck,” before succumbing to “port pressure,” why not give Gatorade a try? Cheers!

The best thing anyone can do is to stay hydrated, which includes not only drinking loads of water, but avoiding alcohol and caffeine. Recently I’ve started incorporating Low Calorie Gatorade into my pre-infusion ritual. I use low calorie because it contains less carbohydrates and sugar – which in my head equals less glycogen build up. I drink at least two servings the night before my infusion and two more servings the morning of. It seems to help reduce the amount of sticks because along with the electrolytes for hydration, Gatorade is loaded with sodium which helps plump up the veins.

Visiting Genzyme: WOW!



Genzyme - nice huh?

Last Thursday my alarm went off at 3am – yes 3am. I got myself up and drove to the airport because I had an early morning flight to Boston. I was invited to be a guest patient speaker at Genzyme’s Annual Marketing Meeting. So even though it required a 3am alarm, I was thrilled. I was so excited to be heading to the home of where my life saving enzyme replacement therapy was developed and to meet even more of the wonderful people at Genzyme.

It was a quick two day adventure. They packed a lot of activities in those two days and even managed to get me in and out of Boston between serious snowfalls.

My fabulous tour guides in Genzyme’s lobby.

After being picked up at the airport I was whisked away to Genzyme Headquarters for a tour. I was met by Kathleen Coolidge from Patient Advocacy who spent the entire day with me. An employee volunteer gave me the grand tour of the building – which is beautiful and amazing in addition to being green. Lots of natural light, water features, live plants – after working in a windowless basement under florescent lights for years, I’m not ashamed to say I would love to work in that building.

It was then off to the Allston plant where they manufacture two enzyme therapies and where Myozyme was created. I had lunch with several Genzyme employees who are currently training for the Boston Marathon. Each of the runners is paired with a patient who they will “run” for to help raise awareness for rare diseases. Angela DeLucco from Employment is running for me. I think is so amazing that these employees are out there on their own time, pushing their bodies to limit, running for those of us who can’t. If you’re in Boston on April 11, 2011 be sure to cheer them on!

After lunch I was treated to a tour of the facility, where they actually make the drugs. It really is a complex and fascinating system and it takes a long time from start to finish. It is pretty unbelievable to stand next the huge containers used to make the drugs and imagine when all is said and done, I’m hooked up to a little IV bag at the end. It really makes you appreciate the long journey the meds make before reaching the patient.

After my tour it was time to give a speech to the Allston workers. I was scheduled to speak and share my story during a town hall event. There was an incredible turn out, I must say, I was a little worried I would be addressing an empty room – but it ended up being standing room only! I took them through, what my local rep Steve has deemed, my diagnostic odyssey. From my medical history, to my first symptoms, to my misdiagnosis, to how bad things got for me physically, to starting Lumizyme and how it has saved and improved my life. Everyone was so engaged and asked such great questions. I am very grateful to everyone for the opportunity to meet with these folks, but the most touching moment was when a man from the audience took the mic to make a comment, something to the effect of, “I just work in research, I’m not out there saving lives, but I’m just so grateful that you would come and speak to us, that I had the opportunity to hear how well you’re doing.” I made sure to not only thank him for his kind words, but to remind him that he is part of a team and people depend on him to do his job, therefore it is important.

View from my hotel room. Yes, it was cold outside but not as bad as I thought it would be.

After the Q&A session was complete it was time to go check in at the hotel. I unpacked and took a quick power nap because it was then time to meet some more Genzyme folks in the lobby before heading to dinner. I had a nice quiet dinner with Kathleen, Angela, and Maureen Stellwag from US Marketing. Maureen had reached out to me last month and invited me to

Dinner with the girls! Kathleen, Maureen, and Angela - and that’s me in front.

the meeting, so it was nice to have some time to get to know her. She is a Disney fan on top of working for Genzyme, so clearly she is an awesome person! After dinner, it started lightly snowing, not enough to be a problem or even make it really cold, it was just pretty. It had been a long day so I pretty much collapsed when we got back to the hotel, luckily I didn’t have to be downstairs to give my presentation at the meeting until 10am – thank you Maureen, I needed the sleep.

Lunch with my Genzyme peeps before heading to the airport and ditching the snow.

Maureen introduced me and played the video clip from Ivanhoe broadcasting and then I shared my story with another roomful of Genzyme employees. Again, I was greeted with earnest attention and genuine interest followed by a Q&A session. Everyone was so kind and complimentary, but honestly – it was my pleasure. After all, without them I wouldn’t have been able to literally stand there and speak for that long. My legs and respiratory system would have been too weak to complete that task without my Lumizyme treatments.

One of the questions I was asked I could use some input on answering. I was asked what could Genzyme do better for their patients? The only thing I could come up with is having them develop a better way for the whole patient community to interact and support one another as there are a bunch of fragmented groups out there. But if Genzyme created a place, because let’s face it, no matter where you are in the world, if your life has been touched by Pompe, you’re hopefully in contact with Genzyme.

I had a difficult time coming up with anything else because my immediate team, as well as anyone I’ve ever been in contact with has been beyond amazing. However, I have heard that not everyone is as lucky as I am, so I’d like to know what you think.

What can Genzyme do to improve patient relations? You can leave me a comment and I will email you back privately, and if you’d like me to keep your suggestions confidential I will. Any organization really does want feedback, especially about areas where they can improve. So if something has been on your mind, please let me know and I’ll deliver this information to Genzyme.

Everything Changes


The leaves changing colors during a recent trip to Washington DC - see change can be beautiful!

The weather changes with the seasons (in most places), children grow up, Bath and Body Works discontinues your favorite line, and the word Pompe Disease enters your vernacular essentially changing your life forever. When Pompe enters your world, whether you are the patient or a friend or family member who has agreed to brave the journey with one of us – everything changes.

Suddenly, (for many who have this option available) every other week finds you hooked up to an IV for most of the day receiving a live saving drug – Myozyme or Lumizyme. For some it means having a port surgically inserting into your chest. And for other is means relying on a machine to help you breathe. For me, it means a adhering to a strict high protein diet and physical therapy regime. It also means sharing my story here and in the media and to whoever will listen – even if it means beating down doors, holding people down and forcing them to listen.

Change can be scary – in any situation. Fortunately, I usually adjust well to change as it is all I’ve ever really known. I’ve learned to roll with the punches and pick myself up (literally and figuratively), dust myself off, and try again. I’m not as strong and as fearless and I may sound. I have moments where I do want to give up, where it just seems too hard and incredibly unfair, but luckily they are just moments and they pass. These moments are important because they help me realize that this battle is hard, and it is ok to become frustrated. Just as long as I don’t stall out in a moment of despair, but instead regroup and focus on what is really important. Often these moments of frustration come when I’ve lost focus of the goal – with Pompe, I’ve found that you can never take your eye off the ball.

They say what doesn’t kill us only makes us stronger. Well Pompe is trying to kill me, so does the fact that I’m not going to let it and that I choose to fight back make me stronger? So, is this a battle worth fighting? Is it a battle that any of us can win? I think so and believe it is worth fighting. Fighting to regain as much strength and independence as I can. Fighting to raise awareness. Fighting to develop new treatments and even a cure.

Did I mention that I’m incredibly stubborn? That helps A LOT!

Some people go through life not knowing where to focus their efforts or what is really important – it is a no-brainer for me. I fight against Pompe, for myself and for others. No matter how hard it gets or how the battle changes, there will always be warriors and heroes out there fighting the good fight. Whether it is a parent working a second job to help pay the medical expenses, or the sleep deprived scientist working in the lab developing a better treatment, or the Pompe patient working through the pain and weakness in physical therapy – there will always be resistance to this horrible disease that seeks to destroy us. The fight may at times seem lonesome, but there are people all over the world fighting their own personal battle against Pompe and from one another we can draw strength, especially during those moments of doubt that we all have.

Like I said, change can be hard. It can be frustrating. But we need to adjust to new things otherwise we’ll lose the battle. For example, I have to change insurance plans in a matter of days. This is more than just a hassle with paperwork, it is going to cost more – a lot more. My premiums will be almost double, my co-payments will be double, and my deductible is increasing considerably. Technically my insurance company should allow me to stay on their plan for 11 more months, but due to a nightmare of paperwork bureaucracy and misinformation they have decided to drop me. Now we all know they could do the “right thing” and allow me to stay on their plan for another 11 months, but insurance companies hardly ever do the right thing for patients, they do the right thing for the bottom line. And having someone with Pompe disease on the plan is terrible for the bottom line. Did I want to tell them to have a Merry Christmas and a Happy Go To Hell? Of course! But that wouldn’t have solved my problem. Luckily I have a wonderful Genzyme Case Manager who is helping work through all the nightmarish paperwork that comes along with signing up for a new plan with a pre-existing condition. She assured me I had nothing to worry about. So, while this change – in a word: sucks, there is hope out there for me. Somehow it will all work out and I’ll continue to receive Lumizyme which will allow me to fight the good fight.

Everything changes, and with Pompe as part of the equation things can change quickly and dramatically. Life with Pompe is never dull, and no matter how it may feel at times – you’re never alone. There is a wonderful support community out there between the other patients and families, the folks at Genzyme, and the dedicated doctors and nurses – there is always someone you can reach out to, you just have to be willing to reach out. And please remember to pay it forward to another lost soul when the opportunity presents itself, and it will present itself.

We can’t always control the things that change in our lives and there is no sense it stressing out about the things we can’t. Instead focus that energy and passion towards the things you can do something about.

And in the spirit of change… I decided it was time for a change – a change in my hair style! Hey, I said we need to focus on what we can change and didn’t say it couldn’t be (at least every once and awhile) superficial! Wink! Wink!

Last December


It was early December 2009, and my Aunt Jan and I were on one of my many medical adventures. We were in Rochester, Minnesota (during a blizzard) at the Mayo Clinic searching for answers. I have to give a shout out to my “Awesome Aunt” because she really came through for me. Not only did she battle a blizzard in our quest for answers, but she and my Uncle Gary battled horrible LA traffic and even a brush fire while ushering me back and forth to my UCLA appointments.
2009 was a really rough year, filled with pain, uncertainty, fear, and frustration. But as 2009 drew to a close the uncertainty eased up and led way to hope. The hope of a diagnosis and the hope of treatment. We left Minnesota hoping they could confirm the diagnosis of Pompe. I know that sounds strange to hope for a life-threatening neuromuscular condition, but at that point I was in so much pain and was going downhill so fast I needed something to hang on to, something to fight and Pompe was something I could fight.
As I look back on the past year, I can’t believe how different 2010 was from 2009 for me. In 2009, I was pretty much house bound because of the unbelievable pain and weakness I was experiencing. I only left the house for endless doctors appointments which always seemed to bring more questions than answers. I had to go on medical leave from my job. My deadbeat landlord stopped paying the rent on my condo, so I was forced to move in the middle of my ongoing medical mystery nightmare. Luckily, my dear friends helped me pack up, because there was no way I could do it myself in my weakened condition. Oh, and did I mention the air conditioning went out in the condo while we were trying to pack up my stuff – in the Las Vegas heat! Really? Yes, really. It is almost funny now – almost.
Early in 2010 my diagnosis was officially confirmed – the same week the movie Extraordinary Measures was released in theaters! I finally had the information I needed to fight back – to start rebuilding what Pompe had destroyed: my health, my independence, my optimism, my life.
Flash forward to present day and I’ve received 19 life saving infusions of Lumizyme. I have an amazing medical team who actually listen to me and work together to help me achieve each goal we set. I’ve met a wonderful online community of other Pompe warriors all over the world. I’ve been going to physical therapy and sticking to a high protein diet which combined with my infusion have resulted in regained strength and mobility. I’ve worked with both the MDA and Genzyme to help spread awareness about Pompe Disease. I’ve begun to travel again, making up for lost time.
As 2010 winds down, I have to wonder what 2011 will bring. There are new opportunities on the horizon for me to “educate” the community, which I will share with you in time. There are new drug trials and new therapies being developed. More attention is being paid to rare/orphan diseases which will result in more funding for research leading to new ideas and treatments…. And hopefully one day… a cure.


More “me” Progress



Yeah for Lumizyme! The stuff works!

I had another physical therapy evaluation this week and the news was once again promising. I have continued to improve and showed increased strength in every muscle group – some more than others which is totally understandable since some are weaker than others to start with.

This week we’re going to start “test driving” manual wheelchairs, I hope to be able to use one full time before my next overseas adventure. It’s a goal, but if it is realistic or not – only time will tell. It is somewhat difficult to set goals with Pompe because everything is so new and undocumented with the availability of Lumizyme. In the past, someone with Muscular Dystrophy could expect to grow weaker and weaker as the disease progressed. But now, with a treatment available and a fierce diet and exercise routine to follow – no one really knows what the future holds for me. I can promise you this – I will keep fighting!

I’m also sleeping better, I can actually sleep lying flat now and don’t have to worry about waking up with a headache. That has not been something I’ve been able to do for several years. The pain is almost entirely gone. I still get flare ups every so often, but they are only in my legs and are much less severe than they were a year ago. The only pain killer I take is Aleve, and I’ve only had to take it a couple of times since starting my Lumizyme infusions.

Thanks to Lumizyme, diet, and exercise I’m slowing taking my life back from Pompe. Some days are harder than others, but for the most part my new lifestyle works for me and is helping me fight Pompe.

Update on Brad


Back in August, I introduced you to my fellow Pompe warrior, Brad Crittenden. Recently, Brad shared some very exciting and encouraging news with me and has agreed to let me publish an update about the progress he has made since starting enzyme replacement therapy (ERT).

Because Pompe can attack the diaphragm and other muscles needed for breathing, patients undergo pretty regular pulmonary function tests so the doctors can monitor just how low our pulmonary function is getting and to let us know when we’ll need to go on a ventilator or other assisted breathing device. Or at least that is how the story went in the past, before ERT was available to us. Now, Pompe patients are tearing up the old progression path of Muscular Dystrophy and paving a new path. Some of us are getting better and stronger! Brad is one of those people who is showing improvement after only a few treatments!

Here, in his own words, is Brad’s update:

A funny thing happened the other day. I had a pulmonary function test that was actually better than the previous one! I honestly can’t remember the last time that happened. In the world of Pompe, we get used to the disease chipping away at us. This time, that didn’t happen. What changed, you might ask? Three months of enzyme replacement therapy!

I had been eagerly waiting for this test. Each time I went in for my infusion I was feeling a little bit better. The last couple times I was able to recline in the chair and still breathe, which I couldn’t do before. Even my nurse has noticed that my oxygen is better than when I first started ERT.

I arrived early for the test. Okay, I was a lot early but I was feeling pretty good about this! First was my volume. I knew as soon as I saw the first number that it was going to be a good day. I was up 7% and I’m thinking, “Holy Smokes, that’s even better than I was hoping!” It’s not as good as I was last fall, but sure better than 3 months ago. Then we did my inhaling and exhaling pressures. I was blown away (pun intended!). One was the same as 18 months ago and the other was even better.

We had one more test, my volume lying down. This is the one that I really don’t like because I just can’t breathe enough. Last time it was only 27%. Since I use a bi-pap when I sleep, I had no idea what to expect. So, I’m flat on my back and I do the first blow. The tech asks me if I’d like to take a break between the three reps and my inside voice said, “Heck no, you’re not getting me down here again!” My outside voice said, “I’m okay, I can do it”. So I do it two more times and sit up with anticipation. I got 39%! Now if I were in college, 39% would not look so good. To me though, it was like a home run! That means that my lung volume when lying down is almost half again what it was three months ago. That seems like pretty good news.

Brad's PFT test results = ERT works!

So now I’m confused. I thought the idea of these tests was for us to be depressed after doing them. I mean, I’ve been practicing that each time and now this happens. I’m going to have to change my whole outlook, but, I think I’m willing to do that. Love that the graph looks kinda like a hockey stick!

Thank you so much for sharing this inspiring news with us! I hope Brad’s progress gives you that extra bit of hope you’re looking for to keep fighting! The stuff (ERT) works! It really does!

Still Busy, so Enjoy Some Quick Links


Wow – I knew it was going to be a busy September, but I‘m loving it! I’ve just returned from DC – more on that later including accessible travel and meeting up with another Pompe patient. I had a hassle free infusion yesterday, so I’m all powered up for my next overseas adventure – again, more on that later.

For now, here is a LINK to the latest Pompe awareness article that has been published by the Dana Foundation.

Also, just for fun, here is a LINK to a foreign article about Pompe. Can anyone translate?

Will blog with you soon!

Labor Day Weekend 2010


When I was a kid, Labor Day weekend used to mark the end of summer vacation. A few years ago it meant a much needed long weekend away from work. This year, it takes on a whole new personal meaning to me – it is the largest fundraising weekend for the Muscular Dystrophy Association.

I remember one of those end of summer weekends back in elementary school. I was on vacation with my parents. We were in the hotel room and the Jerry Lewis MDA telethon came on – this is the first time I ever remember watching it. Even as a child, I was amazed that all these people would dedicate so many hours in a row to help all those suffering from Muscular Dystrophy. Several years later, we were visiting my aunt in Florida and her son was working at one of the local telethon broadcasts. I remember being so excited to be on the set of a live television production. Never did I imagine that one day I would be one of Jerry’s Kids – as an adult!

Fast forward to 2010. In January I was diagnosed with a rare form of Muscular Dystrophy called Pompe Disease. Fortunately for me, there is a treatment for this condition – enzyme replacement therapy (ERT). The Muscular Dystrophy Association contributed research which led to the development of my ERT drug, Lumizyme. This Monday I will head down to my local MDA telethon broadcast to be part of it. As a volunteer, a fan, and as someone who has directly benefited from this amazing organization. They helped save my life!

Please take some time this weekend and tune in to your local telethon and please consider donating (no amount is too small) to this great cause.

Happy Labor Day!