muscular dystrophy association

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.” 

Waiting.

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

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

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

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

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

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

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

Status Quo

 

I’m dusting off the blog. I have neglected it. Does that mean there has been nothing to report, or that I have been too busy to sit down and write about it? Well, a little bit of both.

 

I’ve been busy with speaking engagements, but that has more or less become a regular event in my life. In fact, I’m heading to New York this week for another one. I always look forward to meeting new people in the patient community.

 

So what else have I been up to and where have I been? I spoke at a United Pompe Foundation  (UPF) meeting. This time the meeting was held near Duke University, which is one of the few places that has experts who not only know about Pompe Disease, but who are researching new and better ways to fight it. The meeting coincided with clinic hours – meaning patients could be seen by Dr. Kishnani and other specialists at Duke who really understand Pompe. This was especially beneficial to patients who don’t have access to knowledgeable doctors at home. The meeting and clinic appointments were very successful, even the “veteran” patients admitted to learning new things. The dates for next year’s meeting have been scheduled for April 18, 2013. Keep checking the UPF site for more information, or visit this Facebook  page.

 

Genzyme sent me to Nashville, Tennessee to speak to their travel agency about booking travel for patient speakers. I repeated the presentation via video conference about a month later. There really is an “art” that goes into planning and booking travel for patients. I also did a few presentations here in the Orlando area for both Genzyme and the Muscular Dystrophy Association.

 

Sprinkled between my commitment to Pompe education and awareness I of course had to include some personal travel. I’ve been on a few more Disney cruises and am boarding the Disney Dream again in about a week. I went up to Atlanta to visit with my friend Lonnie – who I’m cruising with next week. In October, my friends and I embarked on what we deemed our Epic Disney Vacation. We spent a week at Disneyland in California. I even arranged to have one of my infusions at UC Irvine under the watchful eye of Dr. Kimonis. We went up to Hollywood, visited my friend Matt at the Walt Disney Studios in Burbank, and played tourists at Universal Studios. After a week of California fun we boarded the Disney Wonder for a two week cruise to Hawaii and back.  The trip took a LOT of planning, but it was well worth it because the trip couldn’t have been better.

 

So, as you can see…it has really been fairly routine….for me.

 

Leanna and I with my favorite puppy at Disney California Adventure.

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!

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.

MDA Telethon Success!

 
This year’s MDA telethon raised $58,919,838! That is money that will, among other things, go toward research. Remember $0.76 out of every dollar donated directly benefits people like me in one way or another. We already have an amazing treatment for Pompe Disease, now let’s find more treatments for all the other forms of MD and dare I say… a cure!
 
Here are some photos from the Orlando telethon…
 
 
 

Welcome to Chapman Leonard Studios in Orlando - September 6, 2010.

 

 
 

With Orlando hosts Leslie Gail and Todd Jensen.

 

The crew working hard behind the scenes.

No set would be complete without Craft Service.

With Sarah from the MDA.

MDA phone bank filled with happy and dedicated volunteers!

Local members of the National Honor Society volunteered their time to help take pledges. Brains and big hearts!

 Thank you everyone – see you next year!

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!

Meet n Greet

 

Today I met with the guys of Marion County ‘s Fire Rescue Spruce Street Station. These guys are truly heroes, not only do they run in to burning buildings and respond to medical emergencies, but they also raise funds for the Muscular Dystrophy Association (MDA). You may have seen firefighters in your area participating in their “Fill the Boot” campaign – and hopefully you helped them fill the boot because every dollar, every dime really does help.

It was such an honor meeting and talking with these heroes today. Having personally benefited from MDA research, I really appreciate their fundraising efforts.

We met with the press and took some photos and then they took me on a tour of the fire house. They are a great bunch of guys who really love what they do and are truly passionate about helping others. I really enjoyed my time there and learned a lot about how the fire house works, they even sounded a test alarm so I could hear and see what they do when a call comes in. I learned a lot, and appreciate even more what our emergency response professionals do for us each and every day!

I was even hooked up with a ‘swag bag’ filled with Marion County Fire Rescue goodies to remember my visit!

Thank you guys for a great day – I loved it!

Limb-Girdle or Pompe? Which monster is really behind the mask?

Behind the general mask of Muscular Dystrophy any number of diseases can be hiding. Diagnosing any form of Muscular Dystrophy can be a challenge because so many of the conditions mimic one another. But as medical science advances new diagnostic tests are developed and Pompe Disease can now be identified with a simple blood test.
 
Pompe Disease likes to pretend to be other conditions, in my case it was masquerading as Inflammatory Myopathy. Others have been told they have Lupus or Fibromyalgia, but one of the biggest pretenders is Limb-Girdle Muscular Dystrophy (LGMD).
 
LGMD presents in a lot of the same ways as Pompe does, but since Limb-Girdle is slightly more common it often wins the diagnosis costume contest. Because LGMD makes sense, doctors and patients often accept this diagnosis without really looking beyond the mask.
 
   

It is estimated that as many as 15% of adult LGMD patients have been misdiagnosed and actually have Pompe Disease!*

Genzyme is encouraging doctors to re-examine their Limb-Girdle patients and test for Pompe. The treatment plan for Pompe is much different than that of Limb-Girdle. I have experienced first hand how beneficial it is to actually have the correct diagnosis. When I was misdiagnosed with Inflammatory Myopathy I was prescribed steroids (Prednisone). These did nothing to help my condition. They did however have wicked bad side effects including (we theorize) permanently shrinking my veins which makes it difficult to draw blood, and of course insert my IV every two weeks. Now, with my correct diagnosis of Pompe, I’m doing really well on my treatment plan.
 
You’ve got to know what kind of monster it is in order to really fight it!
 
If you or someone you know has been diagnosed with Limb-Girdle Muscular Dystrophy, I encourage you to seek out a second opinion. Talk to your neurologist or GP or contact your local Muscular Dystrophy Association office and ask them about testing for Pompe Disease.
 
The monster behind the mask may not be the one you think it is.
 
 
 *Goldstein JL et al. Screening for Pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory. Muscle & Nerve 2009; 40:32-36.

More “Magic Meds” Media

The University of Florida has posted a video about the first Lumizyme infusion. CLICK HERE to view it.

The Muscular Dystrophy Association wrote a really nice article and has posted to their online version of Quest Magazine. CLICK HERE to read the article.