Month: August 2010

September already?

 

“Where did August go?” I ask myself as I sit here and stare at my schedule for September which makes me want to schedule naps that I won’t be able to take until October. I’m super excited about everything that is planned for September, but I honestly don’t know how I’m going to survive it.

Oh my dear sweet Lumizyme, I'm counting on you to keep me energized during all of this.

I have three infusions in September along with trying to squeeze in as many physical therapy sessions as possible. I also have a couple of Pompe awareness events scheduled.

One of my sorority sisters is visiting Walt Disney World for a week. The day she leaves I fly to Washington DC to visit my best friend. Together we will cheer on another friend who is participating in the DC Short Film Festival. A few days after I return from DC I will head to the airport again for my annual father daughter trip. So I’ll have lots to update you on – when I get a chance.

I was so bogged down with pain for so long, while at the same time visiting multiple doctors trying to find out what the heck was wrong with me, this will be the first time I have really had the opportunity to travel in a very long time. I’ve had to schedule my infusions carefully around departures because my Lumizyme treatment is not something I care to miss. I will have to stick to my diet which could be a challenge away from home, but I’ll pack protein bars to help keep me on track. My physical therapist has been designing an exercise program I can take with me so I don’t fall behind. As difficult as it will be, the most important part is that my medical needs will be taken care of because they always take top priority.

With all of this going on, I will do my best to keep you posted on everything!

September 3 Deadline!

 

Enzyme Replacement Therapy - The stuff works!

There are only a few more days left to help Allyson Lock and other New Zealand patients out. September 3 is the deadline to submit an email to PHARMAC’s Review of Exceptional Circumstances praising the effectiveness of enzyme replacement therapy (ERT) for Pompe patients.

You have read on my blog about the progress I’ve made along with the progress of my friends Maddie and Emma. There are lots of patients out there who are taking back their lives because of ERT – the stuff works!

Please take 10 minutes to send an email urging the NZ government to approve this life saving treatment for their citizens. We have already received a lot of positive feedback, but we need more people to add their voice to the cause.

All submissions must be made by September 3 to be considered during the review process.

Thank you to everyone who has already written and to those of you who will! Your email can make a difference.

Instant Replay

 
In case you missed it, here are the links to the podcasts of the live radio interview Dr. Barry Byrne and I did on August 8, 2010 for Health Radio.

Dr. Byrne – What is Pompe Disease?

Monique Griffin – New Treatment for a Rare Genetic Disorder Called Pompe Disease

I think we’re ready to take our show on the road! What do you think?

Progress Report

 

I’m so excited to share this news with you. I had a physical therapy assessment this week and it showed that I had slightly increased strength in both my legs and arms!

That is still a little crazy for me to really wrap my head around. I mean, I know I’ve been working hard by sticking to my Lumizyme infusion schedule, along with my diet and physical therapy program – but to finally have tangible data that I’m really improving is… in a word: Thrilling!

Pompe is a progressive degenerative muscle disease. The course it is supposed to take is to make me weaker and weaker until… well, there’s obviously no reason to go down that dark alley now. I am stubborn, I always have been and I chose to fight back – so take that Pompe! I couldn’t have done it without the help of my entire medical team including my friends at Genzyme, Dr. Byrne, and my physical therapist Tina. You guys rock!

Again, take that Pompe!

Pompe Patient Profile: Brad Crittenden

 
I feel it is important to “put a face” on Pompe Disease. I have been fortunate enough to connect with other Pompe patients and hear their stories. And now, I would like to start sharing their journeys with you. While you may be saddened by their circumstances at first, you will soon become inspired by their spirit as you discover we really can FIGHT POMPE!
 
First up in this series is Brad, who I met through Facebook when he was fighting for government approval to receive enzyme replacement therapy. I asked him to be my “guinea pig,” because he has an amazing story to tell and an even more amazing outlook. Brad is always up for helping to spread awareness of this extremely rare disease, so I figured the chance of him turning down my interview request was slim.
 

Name: Brad Crittenden
Age: 48
Location: Penticton, BC, Canada
When were you diagnosed with Pompe: Jan. 2006
 
 

What symptoms did you first experience?
I was told for years that I had asthma but, no, it was Pompe! I’ve always had weak core muscles. Even as a kid, I struggled to do a sit-up, but I just thought I was lazy. I guess that was just a coincidence! Because the changes are so gradual, I had no idea I wasn’t “normal”. I remember the daughter of a friend was sitting on my lap once and we were doing homework. She said to me, “Uncle Brad, why do you walk funny?” Kids are so darn honest!! I didn’t even know I did.

 

How long did it take to get a diagnosis and what conditions did they think it was before Pompe?
It took about four years to get diagnosed. I was never given any diagnosis to that point, other than asthma, but I was tested for many possibilities. We only figured this out because my doctors were diligent. They said they just had a few remaining, very rare, things to test for. I remember them calling and asking me to come in. I had gone for so many appointments, each time being told nothing, that I said to myself, “This had better be something serious, because I’ve had it with all these appointments!” I guess someone was listening!

 
  
That is Brad in the big yellow hat.

How has this diagnosis changed your life, have you adjusted any of your long-term or short-term goals?

I can deal with the muscle weakness I have now. I’m not in a wheelchair and I can get around well enough. I’ve had a lot of trouble with energy because of lack of sleep. That has affected my ability to work, and that’s a drag. The biggest change that I’ve had to get used to is strapping on a respirator so that I can breathe when I lie down. That’s a bigger drag. My diagnosis and fight has been hard on my family and friends, and it has changed their lives as well.

There’s good and bad about everything. I’ve got really good people in my world and I’ve met a lot of them because of Pompe. I’m more informed and aware. The best thing is that I don’t have to move furniture anymore!

It’s funny to think about long and short-term goals. Prior to the time I was diagnosed, I had decided to take more control of my health. I was weary from talking to doctors, that honestly, had very little to say. That’s not their fault, but that’s how it was. The diagnosis didn’t change my goals and I didn’t believe that Pompe would change me. But then the disease progressed. My breathing got so bad that I couldn’t sleep much. I knew it wasn’t good. I’m well-aware of the prognosis and my progression. Hearing a doctor say that I was two years from being ventilated was sobering, and probably optimistic. At that point, I no longer had long-term goals. When much of your day is focused on something as basic as breathing, it makes the things that we usually think about seem pretty distant.

Since being treated and feeling a bit better, my outlook has changed. I’m not feeling worse than I was three months ago, and I haven’t been able to say that for a long time. I don’t think of long and short-term goals separately. They’re just goals for me and I approach them with more optimism since ERT. I have personal goals and bigger goals. Personally, it’s to fill my life with things I enjoy and give the ERT a chance to provide opportunities. More importantly, help as many people as I can have that same chance.

What are some of the things you like to do?
I used to enjoy racket sports and steering a dragon boat. I had to give them up, but I decided to coach dragon boating while I was still in the sport. I still do that. It’s not the same as being in the boat, but exciting to help others enjoy it. I have a great team that tolerates my jokes! I’ve always been techie so was drawn to website design years ago and still do that. I’m Canadian so I love hockey!

Brad's first ERT treatment.

How long have you been receiving enzyme replacement therapy (ERT) and what, if any, improvements have you noticed?

I have been receiving ERT bi-weekly since May 27, 2010. I honestly feel like I have more energy, but that’s subjective. I like to see measurable things. I know my blood oxygen has improved, which makes me think the energy improvement isn’t just in my head. I’m due for a pulmonary function test shortly which I’m very eager for.

What was your approval process like for ERT?
In Canada, we have public healthcare, which is administered provincially. That means there are funding differences between provinces – there are a lot of things that are unfair and make little sense! There is a body (CDR), funded by all provinces, that evaluates effectiveness of drugs. The provinces use those recommendations when processing a request for something like ERT. Back in 2007, the CDR recommended funding of ERT for infants but made no recommendation for adults. Even by people who should know better, that decision has been read to mean they recommended against funding it for adults, which is incorrect.

ERT has been approved in all provinces in Canada for infants, however, when I was applying for approval, it had only been approved in two other provinces for adults. In British Columbia (BC), these requests go through a review process by an Advisory Committee (doctors, pharmacists, economists, ethicists, etc.). That committee makes recommendations to Pharmacare (the government), who then decides if it will be approved. That process took about 7 months in my case, and during that time my pulmonary function (breathing) dropped another 10%. I was the first Pompe adult approved in BC!

Outside of that process, because the patient has no access to it at all, we (a lot of people!) did take the opportunity to do a few things to increase awareness and apply some political pressure. I was interviewed by radio, TV, and newspapers. I was in constant contact with my MLA (Provincial Rep). A Facebook group was set up for me by a friend who also has Pompe. And a letter writing campaign was started which resulted in a lot of letters being sent to the Ministry.

I was contacted three times by the top official in the approval process. That is almost unheard of. These are very busy people. I do honestly believe that they wanted to do the right thing and I hope that other jurisdictions do the same thing.

What advice do you have for other Pompe patients?
Be your own advocate. Be your best friend, but lean on your friends and family. Use the people that are in the same situation as you for help, that’s us! Reach out to the groups who are there specifically to help people like us. There are many groups, like Muscular Dystrophy, Rare Disease organizations, etc. You are not the first person to go through this process so use our experience, and then pay it forward!
  

Don’t believe everything that you’re told. Ask questions! There is more being learned all the time. Don’t let the disease define who you are. You are not a Pompe patient, you are a person that has Pompe. 

What do you want people to know about Pompe Disease?
Pompe disease is one of many rare, but devastating, diseases. It doesn’t just affect patients, it affects families and friends. We are very fortunate though, because there is a treatment! We have a moral responsibility to provide it, and a responsibility to foster research by funding it.
Is there anything else you’d like to share?
Being diagnosed with Pompe is a double-edged sword. It’s certainly not good news, but it’s necessary to be able to move on and tackle its challenges. We are incredibly fortunate that so many people worked tirelessly to develop a treatment for us.

If you would like to be featured in one of my “Patient Profiles” or would like to recommend someone to be featured, please leave a comment.  

 

A Dozen

  

 

No more pole dancing - this is my new IV pump. Pump on the left, Lumizyme on the right. It zips up and I can carry it on my shoulder.

Today I had my 12th infusion, my second at the new infusion center. I took a new route today which made the journey so much easier. I did have to hand over $4 in toll fees each way which irks me. I just really despise toll roads.

Again, everyone was really nice. They even made sure the snack drawer had low-carb snacks in it that I could enjoy. A new addition to the infusion suite was a mini fridge stocked with juice, soda, and water. And I think they finally got the thermostat under control as the temperature was consistently comfortable.

I went prepared with my own “tape” which is really called athletic wrap. It is wonderful for infusions, it sticks to itself and not my skin. My nurse said she would request some for my next visit -she really likes that stuff too.

Magic tape for magic meds day. And it's purple - bonus!

The infusion went well, no reaction and once again I feel great. I’m always so energized on infusion days. That Lumizyme is good stuff! I start feeling run down about four days before I’m due another dose, and I often get pain flare ups in my legs. They are nowhere near as bad as they used to be and don’t last as long. Usually one Aleve will calm the pain, at least enough so that I can sleep. I had to take one last night and one two nights ago. A huge improvement from where I was for, well – most of 2009.
 
I only hit one small snag this time around. For some reason one of the managers wouldn’t let the pharmacist start mixing the Lumizyme until my IV was in. I’ve always been able to call ahead, about an hour before my appointment, to let them know I’m on my way and they would have it ready when I arrived. Hopefully we can get this glitch worked out, otherwise I’m just sitting in the chair for about an hour while they mix my cocktail.
 
Still going well and still fighting!
 

 

I Caved – Tweet Tweet

 
I have been avoiding checking out Twitter ever since it joined the social networking scene. I just didn’t want learn about a whole new site nor did I see the need to. It seemed a little too trendy for me and I was quite happy with the connections I was making on Facebook, and still am. That was then – when it was all about me, just me.
 
This is now – a bigger picture has emerged and it‘s not all about me. I’ve been deemed a patient advocate, but until recently I never really believed I was. If I really am a patient advocate, I want to be the best one I can be. I want to reach as many people as I can to raise awareness about Pompe disease. I want to help and give support to other patients and families. So I caved, and recently set up a Twitter account. I figure the more venues I can use to help our cause, the better.

I’m still learning the ins and outs of the site, but you can now follow me at: MElizabethGr

Still Fighting for ERT in NZ & Still Need Your Help!

 

Allyson needs ERT to help her fight Pompe disease, an email from you could help make that happen.

On July 28, 2010, I posted an entry (“10 Minutes”) asking everyone to write letters to New Zealand’s Minister of Health, Hon Tony Ryall on behalf of Allyson Lock. Several of us received standard letters of response from Ryall’s office. Yesterday, my best friend received a “personal response” from Ryall – I have copied the text of the letter below. (Thank you V!)

In the letter, Ryall encourages us submit information directly to PHARMAC, which is the NZ government agency that decides which medicines used in the community are publicly-funded.

“PHARMAC is currently consulting on potential changes to its EC policy. You, your friend Monique or Ms Lock may like to make a submission on the discussion document. It can be found on PHARMAC’s website (www.pharmac.govt.nz). Select ‘Patients & Consumers’, then ‘Have Your Say’ and “EC Review’.”

CLICK HERE TO SUBMIT NOW

Hurry! The deadline to submit is September 3, 2010! I have already sent my letter, now it is your turn.
 

Ryall’s letter…

Dear Ms. Shannen

Thank you for your email of 29 July 2010 about enzyme replacement therapy (ERT) for the treatment of Pompe Disease.

I am advised that Myozyme (alglucosidase alfa) was registered by Medsafe for use in New Zealand in April 2009. However, this medication is not currently funded by PHARMAC, the government agency that decides which medicines used in the community are publicly-funded. Ms Lock’s GP, if they have not already done so, can make an application to PHARMAC to fund the medication for her under the Community Exceptional Circumstances (CEC). PHARMAC advises that CEC funding is only available in situations where the disease/condition is rare, or the response to treatment is unusual, or there is some other unusual combination of clinical circumstances. PHARMAC defines ’rare’ and ’unusual’ as less than ten cases nationally.

Where one of the above criteria is met, CEC applications are then further examined taking into account the following considerations:

  • the suitability of the pharmaceutical for which funding is sought;
  • the clinical benefit;
  • the cost-effectiveness of the treatment; and
  • The patient’s ability to pay for the treatment.

Where the cost of a treatment being applied for exceeds $15,000 for the total course of treatment, PHARMAC’s 9 Decision Criteria are also considered.

PHARMAC received two applications last year to fund Myozyme under CEC. The Exceptional Circumstances Panel sought further information on these applications and will consider any other applications it receives for new patients applying for ERT for Pompe Disease.

PHARMAC is currently consulting on potential changes to its EC policy. You, your friend Monique or Ms Lock may like to make a submission on the discussion document. It can be found on PHARMAC’s website (www.pharmacy.gov.nz). Select ‘Patients & Consumers’, then ‘Have Your Say’ and “EC Review’.

The Government has provided an extra $40 million in 2009/10 and $20million in 2010/11 for funding medicines used in the community, but it is not possible to subsidise every medicine available in New Zealand.

Yours Sincerely

Hon Tony Ryall

Minister of Health

Saves Lives!

Let your voice be heard! Patents in New Zealand don’t have to be dying from Pompe, they could be receiving enzyme replacement therapy instead and be FIGHTING POMPE!

Please take 10 minutes to make a submission to the discussion document. Thank you!

Accessible Travel: Disney’s Animal Kingdom, Part 1

 

Being the newest park to join the Walt Disney World family, Animal Kingdom is incredibly accessible. This is NOT just a “wild animal park” – a common misconception. It is a beautiful park that mixes attractions, shows, unique dining, conservation, and of course real animals. This park is also the biggest of all of the Disney parks and it has ‘hidden’ hills. Which means a lot of walking, so if you don’t normally use a wheelchair, but do have trouble walking, you might want to consider renting one when you’re ready to tackle this park. 

Pangani Forest Exploration Trail

Animal Kingdom offers several “walk through” areas that showcase exotic plant and animal life and are completely accessible. These include the Oasis Exhibits, Discovery Island Trails, Camp Minnie-Mickey Greeting Trails (I guess those count even though the “animals” are Mickey and pals), Pangani Forest Exploration Trail, Maharajah Jungle Trek, and Cretaceous Trail. You can explore these areas at your own pace, and there are even benches to rest on along the way.

The first attraction you come across in Animal Kingdom is It’s Tough to be a Bug!, located inside the Tree of Life – AK’s icon in the center of Discovery Island. It’s Tough to be a Bug! is a cute and clever (but can be scary for little ones) 3-D show. Like most Disney theater shows it is completely accessible to wheelchairs. If you can transfer to one of the attraction seats, which are like benches, I would highly suggest you do so. A lot of the attraction sensory experience is built into the seating. If you cannot transfer, you will still be able to enjoy most of the presentation from your chair.

Camp Minnie-Mickey, as mentioned earlier, offers you the opportunity to meet and take photos with Mickey and his friends. You’ll also find the “Festival of the Lion King “ here. Another completely accessible show. But like all shows, there is limited wheelchair seating within the theater so get there early especially on crowded days. If you arrive and they have run out of wheelchair seating you can try to use their seating which is made up of benches and risers. Ask to be seated in one of the front rows to avoid having to climb stairs.

Kilimanjaro Safaris

Kilimanjaro Safaris is a must-see for any visitor! On this attraction you board a safari jeep and tour an African reserve. You’ll observe animals like lions, elephants, cheetahs, giraffes, hippos, and others wandering the reserve. It is not uncommon for the jeeps to have to stop while the animals cross the road – you can get up close and personal with these creatures. There is a special loading area for disabled guests. If you can transfer, you’ll leave your wheelchair and board the jeep. You have to be able to step up into the jeep and then rise out of a somewhat low and narrow seat at the end of the tour. If transferring is not an option for you – no problem! The jeeps in this loading area have a specially designed area for wheelchairs to roll right on. You have to transfer to a manual wheelchair, which Cast Members will have on hand for you to borrow. You then just roll right up the ramp, let the CMs secure your wheels, and you’re ready for your safari! Be sure to have your camera ready!

Not far from Kilimanjaro Safaris is the Wildlife Express Train which takes you to Rafiki’s Planet Watch, an area dedicated to the preservation and conservation of animals. Your wheelchair rolls right on the train, no muss, no fuss, no ramps! All areas of Rafikis’ Plant Watch are completely accessible. However, only manual wheelchairs are allowed in the Affection Section (think petting zoo). Probably so no one runs down any of the animals – hey, I’ve seen those of you who are new to scooters drive! Animals and people beware!

 

We’ll explore more Accessible Disney soon! 

 

Just Sing!

 

I don’t sing.

Before getting my Pompe diagnosis, doctors were mystified with my strange array of symptoms. Often the only approach was to try and treat the symptoms individually since no one had any idea what the underlying problem was. Specialists have tried many different theories and therapies to help me over the years.

One of the more interesting pieces of medical advice I received was to sing. Because I was having trouble breathing, and no one could figure out why, I was told the best way to strengthen the muscles around my lungs was to sing and to do singing exercises. I thought this was rather strange, although logically it made sense, it was just hard to grasp as a medical concept. So I dismissed it as another kooky attempt to try and help the patient with the mystery disease.

I’m now starting to reconsider that strange advice. Recently, another Pompe patient told me she too had been advised that singing could help improve her breathing.

Like I said, I don’t sing – but things change. Pompe can turn your world upside down. You have to do everything in your power to fight back, even if it means doing something you’ve never really done before:

La! La! La!