M.E.G.'s Confessional

My Mystery Disease is Pompe

Down for the Count

It’s been over a year since I conducted a most epic gravity check. Just over a year ago I fell and broke my leg. I have still not fully recovered. After the surgeon put me back together again, he warned me it would take a least a year to completely heal. I didn’t believe him. I have trust issues with doctors (and television executives – but that is another story. Hint: Firefly). The doctor was right. Here it is, over a year later and I am still not back to the condition I was before my accident. 

So what about this epic gravity check you ask? It was late at night, I was tired from being a little late on my infusion, and I fell backwards off a step stool into a confined space and landed on my hip. In the world of Pompe, falling is not uncommon, minor bumps and bruises, minor (and major) humiliation, and sometimes serious injuries happen in our little awkward community. My previous falls had resulted in a concussion, mild whiplash, and a twisted knee. Those were nothing compared to this fall. I had no idea what I was in for as I sat there on the floor waiting for the aching to subside. I thought I could simply scoot my way to a nearby chair and get up. Nope. I struggled for hours and couldn’t move more than inch without excruciating pain. I had no choice but to call for the paramedics. Even then I thought maybe they could just help me up off the floor and into my bed. I wasn’t in pain, unless I tried to move. When the paramedics got there and examined me, they thought I might have just dislocated my leg. They felt that I would be in much more pain if something had broken. Ok, I thought. They’ll just put my leg back, it will be painful, and I’ll recover in a few weeks. I had dislocated my knee in dance years ago and it healed fairly quickly. My dad is the master of dislocating his shoulders and he always heals up fine. No problem, I can handle this I thought. 

When the paramedics moved me from the floor to their gurney I experienced the worst pain I had ever felt in my life. I would have to endure that same pain of being transferred from place to place over and over again over the course of the night. From the paramedic’s gurney to the ER bed. From the ER bed to the X-ray table – and then they had to move my leg all around to get good images of it. They did give me a mild pain reliever before they sent me to the X-ray lab. After the had me do what felt like yoga on the X-ray table, they transferred me back to the ER bed. And then I waited for them to tell me I had severely dislocated my leg. That was not the verdict. I had in fact broken my femur bone and it would require surgery. Not awesome.

A million thoughts ran through my head:

Like: I don’t have time for this!

I have a ComicCon to attend this weekend. Yes, that was my first concern. The entire cast of Torchwood was going to be there! I am still ticked about this. To add insult to injury, literally, just about all of my doctors attended the event. Making them cool doctors, but cruel people to not have taken me. With a little make up I could have been a zombie apocalypse victim. They could have just rolled me into convention the hall in my hospital bed. HMOs cover that right? 

Worst of all, I had never really had surgery before. For one of my muscle biopsies they put me completely under and I was sick for days afterwards. And now, with my official Pompe diagnosis, I knew how dangerous general anesthesia was to me. 

Luckily, I have one the world’s leading experts in Pompe Disease on speed dial. I got in touch with Dr. Byrne right away and expressed my concerns to my medical team at the hospital. Thankfully my medical team was more than happy to consult with Dr. Byrne about the special precautions they needed to take. Honestly, I couldn’t have asked for better care. They brought a respiratory specialist in to join my team to make sure they were extra careful not to put more stress on my diaphragm than absolutely necessary. 

Their plan was to do the surgery as quickly and as safely as possible. Then to get the tube out of mouth and sit me up as soon as possible. The surgery involved two lovely incisions, to place a rod and some screws into my leg to patch up the break. They stapled me back up and sent me to recovery. I woke up in my hospital room sitting up and without a tube down my throat. Good job docs! Apparently there was a recovery room I was in, but I don’t remember that part nor do I remember acting all goofy while coming off the drugs as a certain father of mine claims to have witnessed. There is no documented or photographic proof of this alleged behavior. I only remember waking up in my hospital room feeling a bit groggy with my leg bandaged up. 

The rods and screws that will reside in my leg forever.

The rods and screws that will reside in my leg forever. Which is why I am still experiencing pain. 

I spent two weeks in the hospital recovering. They brought in a physical therapist to work with me, I was able to stand on my leg the day after surgery. I couldn’t (and still can’t) pull all my weight on it, but I could stand on it. Nice going doc! 

The reason I stayed in the hospital so long was partially due to needing an infusion. The doctor on my case was reluctant send me to inpatient rehab, my next stop, before I had my infusion because they were not equipped to give it to me. Well, neither was the hospital really. They had not been trained on how to mix or administer Lumizyme, but they stepped up to the plate. Once again, my personal care team at Genzyme helped save the day too. They worked with my insurance company and got the staff at the hospital trained so I could receive my infusion. 

Two weeks in the hospital wasn’t too bad. The food was ok , I had a room to myself, free WiFi, a decent amount of TV and movie channels, and I had visitors just about every day. 

After my infusion it was time for me to be moved to an inpatient rehab center. This would allow me to work on recovering enough to be self sufficient. I needed to go from completely reliant on nurses to being able to move myself from place to place on my own. I had a lot of work to do, but the facility provided the perfect motivation in the form of sleep deprivation and inedible food. 

The physical therapists and nurses on this facility were top notch. My care was amazing. However, the living conditions just didn’t work for me. I was basically in a nursing home for lack of a better term. I was the youngest patient by decades. Decades. I shared a room with a patient who had to sleep with a bed alarm because she kept trying to get out of bed and she would fall or try to make a break for it. The alarm went off all night. Night after night after night. The food was almost comical. No, it was bad. I would take photos of it and send it to my friends and ask them guess what it was. A couple of friends would smuggle food in to me when they could. I would have killed for something from Del Taco. Killed. 

Guess the mystery meat - is it even meat?

Guess the mystery meat – is it even meat?

How many times has then been recycled?

How many times has then been recycled?

I think this was chicken, carrots, and some sort of mystery side dish made from 3 days worth of leftovers.

I think this was chicken, carrots, and some sort of mystery side dish made from 3 days worth of leftovers.

I worked hard to get an early release. To reach all my goals as quickly and as safely as possible. In the meantime I was still plotting my escape in case my captors were not prepared to let me go. I had friends at the ready with an unmarked van waiting to snatch me under the cover of nightfall. Luckily it never came to that. It might have led to prison time – where the food might have been better. I was released after one week. The director came to talk to me before she would sign the release papers. She had never had a patient make that quick of a recovery. I wasn’t looking to set any records, I just needed my own bed, and some food that I could identify by sight.  

I made it home and then went for outpatient physical therapy. This helped a lot, but I am still not back to where I was. It is frustrating to say the least. I am glad my surgery and recovery have gone as well as they have, but I am ready to be able to fully walk on my leg again. I am ready to take back the small bit of independence I still don’t have. It is just too painful to walk on that leg to this day. 

Where it really holds me back is with driving. Not with the actual driving, but the loading and unloading of my scooter. Since my leg still causes me so much pain, I cannot walk the length of my car to load and unload my scooter from the lift. Someone has to do that for me. Sometimes it is a friend, sometimes it is a valet. Yes, it has slowed me down. I can’t just get in my car and drive someplace without having someone either with me or people at both ends of my journey to help me. However, it has not slowed me down entirely. With help, I can still enjoy the theme parks and travel and cruising. I am still able to get out there and give presentations about Pompe Disease to the patient and medical community. 

My battle with gravity will never end, but hopefully soon my battle with my new metal infused leg will end and I will emerge victorious! I will Keep Fighting! 


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. 


Extreme Makeover: Stateroom Edition


Leanna and I in the Bahamas with a classic (Magic) and new (Dream) ship. May 2012.

Leanna and I in the Bahamas with a classic (Magic) and new (Dream) ship. May 2012.

Sailing on the Disney cruise ships in non-accessible rooms used to be a cause of concern for me. Used to. Being the clever person you have come to know and love, I of course figured out a way to make (most) non-accessible staterooms on both the classic and new ships work for me. Of course, a true accessible room is always best, but they are not always available. Disney used to do a really good job of  holding accessible rooms back for passengers who really need them, but now it seems anyone can easily book one. Whether they need one or not. I’ve seen people who claimed to need a walk/roll in shower because they can’t climb in and out of a bathtub, but seem to have no trouble climbing in and out of the hot tubs on the pool deck. I know people request the rooms simply because they are larger, so I had to get creative with non-accessible rooms when none are available.


Roll in shower in an accessible cabin. There is a fold down bench, grab bars, a hand held shower head, and best of all nothing to climb over.

Roll in shower in an accessible cabin. There is a fold down bench, grab bars, a hand held shower head, and best of all nothing to climb over.

The Classic Ships: The Magic and The Wonder

I spent two weeks on the Disney Wonder in a non-accessible room, so I figure I can make just about anything work – one way or another. There is always the option of using the facilities in the Fitness Center should I not be able to create an environment suitable to my needs. The Fitness Centers on all the ships have  very nice walk/roll in showers.


On the Magic and Wonder, the main bed splits into two twin beds upon request. Brilliant.  This offers more flexibility for anyone, special needs or not. We had our stateroom host remove one of the twin beds and slide the remaining bed against the wall – lengthwise. This gave me plenty of room to bring my mobility scooter in, turn it around, and of course charge it at night. I brought along my own portable grab bar. These can be found in just about any mobility shop. I’ve also seen them in Target. I used the grab bar in the shower, and not only did I use it, but everyone in my travel party used it. We felt it offered more stability than the permanent grab bars. Crossing the Pacific Ocean was a bit bouncy and the grab bar worked great for all of us. Disney Cruise Line provided a raised toilet seat to complete our transformation into an accessible stateroom.


The New Ships: The Dream and The Fantasy

The first time I sailed on one of the newer ships was last year on the Fantasy. We  managed to obtain an accessible verandah room. On the classic ships, the accessible verandah rooms are all located at the back of the boat and have a white wall verandah. This doesn’t bother me, but some people prefer the plexi-glass verandah walls so they can see the water without having to stand up and peer over the verandah wall. On the newer ships, accessible verandah rooms are located all over the ship, the front, middle, and back. Our room was located midship and had a plexi-glass verandah. I’ll admit the plexi-glass is nice, but not having is certainly not a deal breaker for me. In my opinion, the biggest advantage the accessible cabins on the new ships are the automatic doors. To enter your cabin you simply tap your card against the RFID reader and your door opens, stays open long enough for a wheelchair user to enter and get out of the way, and then closes. There is a button on the inside of the cabin that you press when you are ready to leave. Non-wheelchair users have complained about the “nuisance” of having to wait for the slow moving to door to completely close before they can leave.


This is what I used to create "steps" to use in the non-accessible cabin.

This is what I used to create “steps” to use in the non-accessible cabin.

Recently, I stayed in a non-accessible verandah room on the Dream. There were only two of us in the room, so again, we made it work. Since the beds on the new ships do not split apart it was a bit more challenging than when I was on the Wonder. Our room was a “Family” stateroom, meaning it had a round bathtub instead of a rectangle one. This geometric difference made it possible for me to bring my mobility scooter into the cabin. The round shape of the tub, which was reflected in the wall next to the bed offered just enough room for me to squeeze in. This would not be possible in the rooms without a round tub. Speaking of the round tub, while it offered an advantage regarding bringing my scooter into the room, it simultaneously presented a new challenge. The round tub was higher and much more difficult to climb in and out of than the rectangle tubs. We solved this problem by utilizing my portable grab bar again, and bringing my own “adjustable steps.” Not knowing exactly how high I would need my “steps” to be, I needed something that could be adjusted and wouldn’t become a slipping hazard. I scanned the aisles of the hardware store for something and what I ended up with was floor mats designed for children. They are ABC/123 interlocking floor mats and they worked really well. I ended up stacking 7 of them together and secured them with a luggage strap. They are light and easy to transport, but they can take up a bit of luggage space. Disney provided a raised toilet seat again and the transformation into a semi-accessible cabin was complete. The biggest obstacle in this room was getting out. Since the beds on new ships don’t split apart, I didn’t have enough room to turn my scooter around. I had to CAREFULLY back up – there was little room for error in the narrow hallway leading from the bed to the door (the regular stateroom doorways are 25.5 inches wide). My friend had to open the door and then help me navigate backing out, with practice we got better and faster at exiting the room. I could not leave the room unless my friend was with me, thankfully she was always there to help me. I’m sure in a pinch I could call Guest Services and they would deploy someone, probably my room steward, to open the door and help guide me out.


Location, location, location.

Some people believe the best location is mid-ship, the cruise lines fuel these fairy tales by charging more for what they deem more desirable locations. The “theory” they peddle is the midship rooms will experience less movement. I’ve been on different decks and different locations and have not noticed any difference in the rocking. I believe it is merely a ploy to extort more money. For wheelchair users, the best location is going to be near an elevator. The hallways are narrow, filled with housekeeping carts, and other guests going to and from their rooms. Additionally, if your scooter is too large to fit through your stateroom door, you’ll probably need to park it in the elevator lobby. There are electrical outlets in the lobbies, so you can charge your scooter.


Accessible rooms are indeed best for me, but if none are available I’m not going to let that keep me from cruising with Mickey and Captain Jack.


My friend Lonnie and I on Pirate Night. December 2012 on the Disney Dream. Oh, and that's our friend Donald Duck in the center.

My friend Lonnie and I on Pirate Night. December 2012 on the Disney Dream. Oh, and that’s our friend Donald Duck in the center.


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!

Leave a comment »

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.

Leave a comment »

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


Accessible Travel: DCL The Fantasy

After spending hours and hours planning a trip to London and Paris, I ended up taking two Disney cruises instead. Why? It was much easier and cheaper. The more planning I did the more the price tag increased, that coupled with the fact that London is hosting the Olympics this year made the decision to change plans very easy. I have been in cities before and during the Olympics and they are a mess! Everything is ridiculously crowded and over priced, I’m not sure what I was thinking. And now, as I sit here watching the Queen’s Diamond Jubilee and the mobs of people, I’m even more convinced it was a great decision to avoid the chaos of London during a major event. Now, visiting a city after the Olympics is a whole other story….a story I hope to be able to tell you about in the next year or so.

Back to accessible cruising….I wrote about how accessible Disney cruises are HERE. However, after cruising on their newest ship, the Fantasy, I felt the need to share some updates.

One of the issues I had on both the Wonder and Magic were some of the public thresholds. A couple of them were too steep and my scooter would get stuck. I didn’t encounter any problem thresholds on the Fantasy. However, there was a small lip in the threshold leading into my accessible stateroom. I didn’t get stuck, but had to take the door with a little bit more speed and at just the right angle. My stateroom had enough room to maneuver my scooter, a roll in shower, plenty of grab rails, and even an accessible verandah. A fantastic improvement on the accessible staterooms is their self-opening doors. You just swipe your room key card and the door opens…..like magic!

The lifts are also bigger, as the ship is bigger and holds more people it doesn’t really make catching one during busy times any easier. However some are big enough so if I was in one alone I could actually turn my scooter around.

The two main theaters have additional wheelchair viewing areas, opening up the option of sitting somewhere other than the back row – or the front row of the Walt Disney Theatre if you are willing to transfer into a theater seat. In the Fantasy’s Buena Vista Theatre (where they show Disney films) there are wheelchair spaces in the back row and in the middle of the theater. In the Fantasy’s Walt Disney Theatre (where they show live stage productions), you can sit in the back of the balcony or in the back row of the main floor or in the front or middle rows. I do not recommend sitting in the back row of the main floor for a couple of reasons: your view is obstructed by the overhanging balcony, you are right by the main entrance so you are constantly disturbed by people coming and going, and people think this is a good area to bring their crying babies to watch the show – at least they did on this cruise. If you want to sit closer to the stage, which I do recommend, you have to be escorted there by a Cast Member because it involves going into the crew areas of the ship and riding on a small backstage lift.

Cabanas, the buffet, is much more accessible than Topsiders (Magic) and Beach Blanket (Wonder). The restaurant is much more open, instead of one long, narrow serving line, there are several smaller serving stations.

The public restrooms on the Fantasy are kind of a fail in the accessible improvements category. On the Magic and Wonder the accessible public restrooms are basically family/companion stalls located next to the men’s and women’s restrooms. On the Fantasy, there are no such facilities. Instead, there is a wheelchair accessible stall inside the pubic restrooms. This means a guest in a wheelchair has to maneuver through tight turns while dodging other guests using the facilities. Fail.

Both the classic ships and the newer ships offer great accessible cruising. However, the classic ships have a better “traffic flow” design, making them much easier to navigate for guests in wheelchairs and on foot. The new ships also have a cool interactive game called The Midship Detective Agency which sends would-be detectives all over the ship. This game, coupled with the “traffic flow” problems has younger cruisers literally running around the ship making it a less tranquil experience than onboard the classic ships where the children are more “contained.”

Whether you choose to cruise on the newer Disney ships or the classic ones, you’ll find your adventure pretty much barrier free. Happy cruising!


Leave a comment »

How do you do it?

I’m often asked how I deal with Pompe so well, where I draw the strength to go on fighting day after day. Well, first off, the alternative is to just sit at home complaining, feeling sorry for myself, and waiting for Pompe to kill me, but that is just not how I roll. The simple answer is that I’m stubborn and I’m a fighter. I refuse to let some stupid mutated genes ruin my life. It does make for an albeit difficult, but interesting life.

Some people just deal with adversity better than others, it is a personality trait. I also draw inspiration from those around me, even those who are no longer here.

When I was in elementary school one of my best friends was diagnosed with a brain tumor. She went through surgeries, chemotherapy, and radiation treatments. The treatments made her very sick and she lost all of her hair. I watched as other kids shied away from her or stared at her, but through it all she remained positive and outgoing. She appreciated the days when she felt good and would want to go out and seize the day. Even if she was checked into the hospital for a multi-day treatment session she would ask her doctor for a “day pass” so we could go to the movies or Disneyland or shopping. It was like she understood without equivocation at 9 years old how important it was to embrace life and enjoy yourself when you could.

I learned how to be a Pompe Warrior from Jaimie. The example she set as a young child continues to inspire me to never give up fighting and never give up hope, to enjoy life and live it to the fullest. She may have been thankful that I remained her friend, that I wasn’t one of the ones scared off by her cancer, but honestly I think I am the one who benefited the most from our friendship.

So how do I do it? I get by with a little help from my friends…..and family too of course!

Today is her birthday. Happy Birthday Jaimie. You are greatly missed and continue to inspire the lives you touched.

“Wouldn’t it be great to be able to fly, over the rainbow and beyond the sky?” -from one of Jaimie’s many poems


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!



Get every new post delivered to your Inbox.

Join 300 other followers