M.E.G.'s Confessional

My Mystery Disease is Pompe

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.

3 Comments »

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.

Sincerely,
Your Loyal Lab Rat

2 Comments »

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!

20120603-122654.jpg

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

10 Comments »

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.

4 Comments »

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!

2 Comments »

2011: A Look Back

And…..scene.

As the curtain closes on another year, it is time to quickly look back before moving forward. I know, how cliché right?

2011 was a productive and exciting year for me. It was filled with a fair bit of travel, a lot of which centered around Pompe patient advocacy. The year concluded with me receiving my 42nd Lumizyme infusion and a few new stamps in my passport.

January

I was invited to Boston, Massachusetts to speak at Genzyme’s annual marketing meeting… in between snow storms. While there, I was asked to serve on their Patient Advisory Board.

February

I met up with Pompe peep Karen who was in town visiting friends. Karen is a Pompe trail blazer in her own right. While I may have been the first Lumizyme patient, Karen was one of the first adult patients to receive enzyme replacement therapy through clinical trials years before Lumizyme received FDA approval.

March

I returned to Boston for a Patient Advisory Board meeting at Genzyme. After the meeting my friend Vanessa flew in to join me, and we spent the weekend exploring Boston together. Later that month I ventured to Europe with my friend Lonnie and her sister. While in London, I had the privilege of meeting up with 3 Pompe patients from the area.

April

I spoke at patient meeting in Atlanta, Georgia for Genzyme. The trip to Atlanta also gave me a chance to visit with my friend Lonnie at her home in Athens….during a tornado warning.

May

Genzyme flew me to Washington DC to speak to members of Congress about the importance of biotech research and development. After all this “hard” work, it was time to relax for a bit, so I took a two week transatlantic Disney cruise from Florida to Spain.

June

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

July

I spoke at patient meetings in Los Angles and San Bernardino, California for the United Pompe Foundation. While in California, I met up with some friends at Disneyland.

August

I headed back up to Gainesville, Florida and Shands at the University of Florida. I am participating in a long term study for Dr. Bryne. I also enrolled in a respiratory study that allows me to try and improve my breathing by using a respiratory trainer. I’m always willing to try something new, so Dr. Byrne got me up on a treadmill while in a harness. It was sort of an experiment to see of there was any possible research or therapeutic value in this type of approach to exercise.

September

I was asked to appear on the Muscular Dystrophy Association’s annual telethon again. Over the summer I visited with two of the hosts at their radio station and pre-taped a segment for the telethon. They aired the segment and also interviewed me live the day of the telethon.

About 20 of my friends from the transatlantic decided they wanted to do the return trip, so I joined them. We all met up in Spain and took another two week Disney cruise all the way back to Florida.

October

The Lysosomal Disorder New Zealand patient group flew me to Wellington, New Zealand to help with their campaign to secure treatment for patients there. I spoke with members of Parliament, the media, and the head of PHARMAC. The battle continues in New Zealand as we head into 2012, the Pompe patients there desperately need enzyme replacement therapy and soon.

When I returned from New Zealand my own infusion was delayed due to paperwork. Why don’t pencil pushers realize how critical this treatment is to our survival?

I also spoke at a patient meeting here in Orlando along with several specialists from the University of Florida, including Dr. Byrne. The meeting was hosted by the Muscular Dystrophy Association through an educational grant from Genzyme.

November

It was uncharacteristically quiet which turned out to be a good thing as my health really started to decline as I waited for my next infusion. I ended up going 4.5 weeks without Lumizyme and I really felt horrible. The pain in my muscles as well as the headaches returned. My respiratory function even declined, which was a huge step back for me. When I finally received my infusion, I could immediately feel the difference. I’m back on track with regular infusions, but missing just that one really took a toll on me. I still don’t think my respiratory function has returned to where it was before my missed treatment.

I met up with Dr. Byrne at Downtown Disney and I invited to join Brad, Allyson, and me at the Magic Kingdom the next day. Dr. Byrne was in town for a conference but was able to sneak away long enough to spend a few hours playing with 3 of his lab rats….er, Pompe patients.

December

Allyson came down to Walt Disney World and we attended Mickey’s Very Merry Christmas Party.

A couple of days after the party I was on a plane to California. It was a spectacular Christmastime celebration at Disneyland with friends from elementary school, high school, and college.

Allyson’s family from New Zealand arrived at the end of the month. We passed the time waiting for their flight to arrive at Downtown Disney where we ran into Pompe celebrity/hero John Crowley!

When I was actually in town, I had several visitors, many of whom I had met on my Disney cruises. Friends from all all over the United States, Canada, Australia, New Zealand, and England visited the “the House of Mouse” and me this year.

Perhaps 2012 will be filled with even more opportunities to advocate for patients. I mean, how many people really get the chance to make a difference in the lives of others?

It was my hope to return to work in 2012, but missing just one Lumizyme infusion set my recovery back more than I had expected. Time will only tell what the future holds for me.

What I do know, is there’s a lot of hope on the horizon for Pompe patients. The next generation of enzyme replacement therapy is currently in human clinical trials and a chaperone drug is about to enter human trials. Additionally, there is the amazing work Dr. Byrne is doing in gene replacement therapy which is also in human trials and is showing great promise for our younger Pompe warriors.

2012, the Year of the Dragon….how appropriate. Keep fighting!

Leave a comment »

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.

3 Comments »

Follow

Get every new post delivered to your Inbox.

Join 78 other followers