Month: July 2010

Why Pompe Patients Down Under are Down and Out

 
 
 
 

 

Are You Kidding Me?!?! The Federal Government in Australia is crazy if they don’t think ERT works!

From the Herald Sun
July 22, 2010
By Sue Dunlevy

The Federal Government has twice refused to subsidise Myozyme, which treats the deadly and extremely rare Pompe disease, under the Government’s life-saving drugs program.

Drug company Genzyme, which has spent $36 million supplying the drug free of charge to patients for three years, said it could no longer afford to provide it under a charity access program if a third attempt to gain a subsidy fails in November. “I can’t sustain the charitable funding beyond this year,” Genzyme managing director Dan Brown said.

A senior member of the medical profession described the threat to cease the charitable funding as “blackmail” by the drug company.

The Government said the drug company had failed to produce evidence the medicine would save lives.

Patients with Pompe disease are missing an enzyme that breaks down glucose in the body. Fats accumulate in their muscles and they usually die of cardiac or respiratory failure.

Myozyme, delivered by infusion every two weeks, replaces these missing enzymes.

The Government funds the medicine for babies born with the disease because they will die within 12-14 months without the enzyme.

But children and adults who develop the disease later in life experience a less rapid form – the progression can be so slow in some people that they will outlive it.

Some also have limited benefits from the drug and only a few people achieve remission or dramatic benefit.

The Government already funds three high-cost medicines to treat other enzyme diseases under the life-saving drugs program. But in May it ruled such drugs must substantially expand a patient’s life.

Really?

 

10 minutes

 

Enzyme replacement therapy saves and improves the lives of patients fighting Pompe Disease.

Right about now, if you’ve been following my blog, your thinking “duh” to yourself. I felt this was worth stating again, because now I’m going to ask you to help someone out using this “duh” knowledge.

Allyson on Mother's Day with two of her boys.

Meet Allyson Lock. She was very recently diagnosed with Pompe Disease. She lives in Masterton, New Zealand and has been denied enzyme replacement therapy. She was told there simply wasn’t funding for it. Her GP is currently trying to generate the much needed funding.

Allyson is reaching out to the politicians and media in her area for help. I have also written to Minister of Health and Minister of State Services Hon Tony Ryall on her behalf. And now, I’m asking that all of you take 10 minutes to send an email to Tony Ryall. The more times his office is hit with the words “ALLYSON LOCK” and “POMPE DISEASE” and “ENZYME REPLACEMENT THERAPY” the less he can ignore it.

Here is the link to Tony Ryall’s website which includes his email.

Please take 10 minutes to send him an email requesting his assistance in cutting through the red tape of bureaucracy so that Allyson may receive this life saving treatment. 10 minutes of your life can have a huge impact and help change someone’s life.

10 minutes.

Accessible Travel: Magic Kingdom, Main Street USA

 
I have stated a few times that I now try to focus on the things I CAN do rather than what I can’t. In that spirit, I would like to share with you my observations on one of my favorite subjects: travel. I will be dedicating some entries to accessible travel and will start with one of my favorite places: Walt Disney World. I would like to take you through the accessibility of each area of each park.
 
Accessible Disney
Walt Disney World has done a wonderful job with making their parks and resorts extremely accessible to guests with disabilities. The are always making improvements, and as the technology evolves, more and more attractions become accessible or “more” accessible.

Let’s start with the Magic Kingdom. This is written to assist everyone, but I will write it from the point of view of someone who needs to use a wheelchair. Those of you who are still able to walk, but have difficulty with stairs and getting up from a seated position will benefit from this to.

Arrival

If you drive to the Magic Kingdom and have a disabled parking placard, make sure it is displayed when you go through the toll both, as the next Cast Member you see will take notice and direct you to the “Medical Parking” area. Otherwise you’ll go with the masses to standard parking which may not give you a wide enough area to unload a wheelchair.

If you plan on renting a wheelchair, the disabled parking area should have courtesy wheelchairs available to take you from the parking area to Mickey’s Gift Station where you can pay for a rental wheelchair. You cannot take the courtesy wheelchair any further. You can also rent wheelchairs and ECVs (electric courtesy vehicles) in the park (available on a first come first serve basis – so get there early, especially for ECVs). Mickey’s Gift Station is located to the left of the ticket booths past the Kennel as you arrive from the parking area.

When you arrive at the Ticket and Transportation Center, you can choose to take either the Monorail or the Ferry Boat to the Magic Kingdom. Both are wheelchair accessible, but the ramp to the Monorail is a bit steep. So if you’re in a manual wheelchair you might want to choose the Ferry as that entry ramp is pretty level.

 You’ll go through a Security check point with everyone else, so have your bags open to speed up this process. You can then proceed to the turnstile where a Cast Member will help you scan your ticket and then open a gate for you to pass through instead of the turnstile.

If you want to rent a wheelchair or ECV head to your right after you pass through the turnstiles and before you enter the breezeway under the train tracks.

Main Street USA

I would suggest heading to City Hall to obtain Guide Maps for Disabled Guests. This Guide includes information on which attractions you can take your chair on and which ones require you to transfer to a ride vehicle, as well as indicating where the parade viewing areas are for disabled guests. You can get guides for all the parks, not just the Magic Kingdom. Also request a Guest Assistance Card, especially if you are able to walk, but have difficulty climbing stairs or think you’ll need more time to get on and off ride vehicles. These cards ARE NOT a line pass. They simply let disabled guests use alternative loading areas for attractions – wider doorways, a side track, special wheelchair accessible vehicle, etc. Some attractions have stairs in the queue line and this cards allows you to bypass the stairs on rides like Big Thunder Railroad and Dinosaur over at Animal Kingdom. They are good for your entire visit. City Hall is located to the left of Town Square on Main Street.

All the shops and restaurants on Main Street are accessible. However, later in the day, when everyone is shopping the stores can get crowded and become hard to navigate. I would suggest doing your shopping earlier in the day or during one of the parades or popular meal times. Take advantage of Disney’s Package Express so you don’t have to carry your purchases around with you all day. If you are staying at a Disney resort your purchases will be delivered directly to your resort. Otherwise you can pick up your packages on your way out – this service is available throughout all the Disney Parks, not just Main Street.

Main Street Vehicles

With a little help from my friends I can enjoy the Fire Truck on Main Street.

None of the Main Street Vehicles can accommodate wheelchairs, but they do offer curbside loading and unloading and some guests may be able to transfer into a vehicle. The horse drawn carriage and the omnibus are probably the easiest. The omnibus even has room to store up to two manual wheelchairs onboard, if they fold up. Give it a try because you’ll never know unless you do!

The Walt Disney World Railroad: Main Street Train Station

The Walt Disney World Railroad is wheelchair accessible. If you are in an electric wheelchair or scooter you will have to transfer to a manual wheelchair – which they should have on hand for you to borrow for the ride. The train has stations in Frontierland and Toon Town, but if you have transferred to a manual wheelchair you’ll need to go roundtrip, of course, in order to return to your chair or scooter. The ramp is located to the right of the train station.

The end of Main Street brings you to the Hub located in front of Cinderella’s Castle and surrounded by the entrances to Adventureland, Liberty Square, and Tomorrowland.

Cinderella's Castle at the Magic Kingdom

We’ll explore more Accessible Disney soon.

 
 

 

 

The Latest Efforts from “Pompe Hero” John Crowley

 

Those of you fluent in “Pompe 101” are familiar with the efforts of John Crowley. His family is was the inspiration behind the movie Extraordinary Measures. John Crowley’s dedication to getting a treatment for his children with Pompe helped paved the way for all of us to receive the life saving enzyme replacement therapies, Myozyme and Lumizyme. John recently posted the following:

Taking the Pompe Fight to DC!

“RARE DISEASE CAUCUS IN HOUSE….Last week, Congressman Fred Upton (R-MI) and Congressman Joseph Crowley (D-NY) announced the formal formation of the House Rare and Neglected Diseases Caucus. Please see the attached announcement from National Organization for Rare Disorders (NORD).

 

This is a HUGE step forward in laying the groundwork for a series of hearings, initiatives and ultimately laws that will fundamentally advance the development of medicines for the tens of millions of people worldwide who suffer from rare diseases.

Please contact your Congressman and ask that he/she sign on to the Rare and Neglected Disease caucus in the House, per the “Dear Colleague” letter that Reps. Upton and Crowley sent out to all members of the House last week.

As co-chairs of the Caucus, Crowley and Upton will focus on:

  • Bringing Congressional attention to the 6,800 known rare diseases that currently have no approved therapies;
  • Ensuring sufficient funding for research and orphan product development;
  • Exploring ways to incentivize companies to create new drugs, biologics and humanitarian use devices;
  • Providing an opportunity for Members of Congress, families and advocacy groups to exchange ideas and policy concerns.

Both Rep. Crowley and Rep. Upton are looking to you to encourage your Representative to become a member of this important Caucus. Call the U.S. Capitol Switchboard at (202) 224-3121 today and ask to be connected to your Representative’s office.

If you’re not sure who your Representative is, go to http://www.house.gov/ and enter your zip code to find out the name.

Also, FYI, I have been asked to testify this Wednesday before the Senate HELP (Health, Labor, Education and Pensions) Committee on the current state of rare disease research and development. Working late tonight on the testimony draft!!!”

Thank you John for all you do!

UPDATE: To view John’s testimony CLICK HERE, he speaks about 117 minutes into the video.

Fundraiser Alert!

 

A lot of people have asked what they can do to help – well I now have some fundraising news for you!

My friends the Crowley’s up in Pennsylvania recently posted a blog about a fundraiser that is taking place out in California. Their family is participating in the San Diego America’s Finest City Half Marathon and is raising money for the Acid Maltase Deficiency Association. You can read all about the fundraiser, including a very heartfelt letter written by their cousins, at Maddie’s Mission: You Run Like a Girl.

I encourage everyone who can to donate, as every little bit really does help. And if you can get to the San Diego area on Sunday, August 15th please be sure to cheer the runners on!

Thank you!

Bad Hair Day?

 
“You would never know you were sick because you look so fabu! Your hair is gorgeous! Is that inappropriate?”Matt Martinez, Independent Filmmaker & Magic Club Co-Founder
 
No Matt, it is never inappropriate to tell me my hair looks good – especially after I’ve been fighting with it since the start of my infusions.

After I started receiving my enzyme replacement therapy (ERT) infusions I noticed that I was having one mild side effect – my hair and scalp were very dry. My hair was very dry and untamable – it was like straw. I tried all sorts of things to remedy this. I used tea tree oil and hydrocortisone cream on my scalp which only temporality helped and the dryness would come back. I even tried dandruff and dry scalp shampoos which didn’t help – and those things are not cheap and don’t smell all pretty and girly!

Finally, on the advise of my hairdresser I started using a leave-in condition after every shower and a deep conditioning treatment, or “hair mask” once a week. This seems to have done the trick. I still get a dry scalp, but it is not as bad and not constant. And now my hair is shiny and manageable again.

I have heard from a few other Pompe patients who are on ERT and having similar issues, so I thought I’d share with you what I use.

My new hair care weapons! It's a 10, miracle leave-in product and miracle hair mask.

After shampooing and conditioning in the shower I use a leave-in conditioner. I spray it on my towel dried hair and comb it through. Once a week after shampooing I apply a deep conditioning treatment which I leave on for 5-15 minutes and then rinse out. Both these products are “It’s a 10” and can usually be found at your salon or in stores like Ulta. I can now even blow dry my hair, use a styling iron, and/or apply styling product without over drying my hair.

No more bad hair days for me (at least not because of an ERT side effect). And honestly, if this is the worst side effect I’m going to experience because of it – well, then no big deal. It could be worse.
 

 

To Port, or Not to Port

 
Having to get an IV infusion every two weeks for the rest of my life has often brought up the subject of having a portacath put in. A portacath (or port) is a small medical device that connects to a vein via a catheter. Drugs can be injected and blood samples can be drawn through the port’s septum. It is surgically inserted under the skin in the upper chest just under the collar bone.

This is what the device looks like and how it works. It will leave a small rise under the skin, about the size of a quarter, where the port is accessed. All this, and you still get stuck with a needle each time – no thanks, not for me. Image from keepwerking.co.uk.

They are most often used with cancer patients for chemotherapy treatments. The chemo is so strong it can cause tissue damage, so a port is the safest way to go. Lumizyme is basically a synthetic enzyme and will not cause tissue damage so inserting a new IV every two weeks is not a problem and a port is not utterly necessary, but it is an option for Pompe patients who have difficult veins or who just don’t want to be “stuck” every other week.

I don’t mind the IV needles, they don’t hurt, even when more than one attempt has to be made to insert one. I have heard from a fair few cancer and Pompe patients who have ports and they unanimously agree that they love their ports. They enjoy not having to worry about problems with the IV and possibly getting stuck more than once. Again, I don’t mind and until (and IF) it becomes absolutely necessary for me to get one, I will continue to go with the new IV stick each time. Here’s why:

Having a port put in requires surgery and I don’t do well AT ALL under anesthesia. When the did my second muscle biopsy they surgeon decided for some reason to put me out – no one knows why he did this for a fairly simple (albeit, painful) procedure. I had so much trouble recovering from that, my pain and headaches got immediately worse following the surgery. My “theory” is that the surgery “angered” the Pompe. I can’t imagine going through all that again, which could set back the little progress I have made, just to avoid some needle sticks.

It is a personal decision, and everyone is different. Now, down the line I may change my mind as we never know what will happen, or what the future holds for Pompe patients. But for now, I will continue my role as a human pin cushion as the risks don‘t seem to outweigh the benefits for me.

If you have questions about having a port put in, talk to your doctor about the benefits and risks. Like I said, I’ve yet to meet a patient who doesn’t absolutely love having a port.

Pompe Power

 

The wristband says Pompe Power on one side and http://www.amda-pompe.org on the other.

When I visited with the Crowley family last month, they were kind enough to give me my very own Pompe Power wristband. I have worn mine everyday since – even to my sorority’s formal banquet last week! Hey, it was the same color as my dress.

They also told me how to order more wristbands and I just placed an order so I can hand them out to my friends and family. I’m sure some of you are wondering how you can order them too. I spoke with Marsha Zimmerman at the Acid Maltase Deficiency Association (AMDA) who handles the orders and she gave me permission to post the ordering instructions here.

To order online you will need a Pay Pal account. If you don’t already have one, it is easy enough to set up. You can also mail a check if you don’t have a Pay Pal account.

To order online:

Go to the AMDA website at: http://www.amda-pompe.org/index.php/main/

Click on the “Make A Donation” button in the upper right of the screen to make a donation for the amount of Pompe Power wristbands you would like. They are $1 each.

The site does not offer a way to distinguish between a general donation to the AMDA and purchasing wristbands. After you make your payment, email Marsha Zimmerman at zimmermanm@uthscsa.edu to let her know you placed an order for wristbands and let her know how many you ordered.

Once your order has been confirmed by the site Marsha will mail the wristbands to you. It is that easy! Soon you too will have your very own Pompe Power wristband.

To order by check:

Send a check made out to the AMDA for the amount of wristbands you would like ($1 each) to:

AMDA

PO Box 700248

San Antonio, Texas 78270

Be sure to include a note in the memo indicating the donation is for Pompe Power wristbands and then email Marsha to let her know the check is on the way.

Pompe Power!

 

More Independence for Independence Day!

 

I finally had a lift installed on my car for my mobility scooter. This will give me more independence. Until now, I have been dependent on others to get my scooter in and out of my car. I always needed to have someone with me unless I was going somewhere on the bus or to a place that had valet parking. I wish I didn’t have to use a scooter or need a lift, but since I do, I might as well get as much independence out of the situation as possible.

For those of us fighting Pompe, loss of independence is one of the worst things about this condition. The stories of how “I used to be able to do this or that” are seemingly endless. And patients being forced to accept the fact that their body is being attacked and have to give in to the use of a mobility device can be a bitter pill to swallow. Most put off using a cane, walker, or wheelchair for as long as possible. We are a stubborn bunch and often refuse to accept that we need help – from other people or from mobility devices. Pompe patients often look “perfectly normal” so using even a cane brings on uncomfortable stares and whispers. It can be easy for friends and family members to want us to use devices for our own good, but it is a tough decision to make. It feels like failure, like we are letting the disease win. The thinking is, that as long as we can still walk without assistance we are winning the battle.

I finally had to concede the battle and move from a cane to a scooter after a several falls resulted in a few injuries. I suffered a pretty serious concussion, got mild whiplash twice, and twisted my knee twice. At the time of the falls I didn’t have a diagnosis yet and had no idea what course my mystery condition would take. So initially the scooter was more of a safety device than anything.

Today I make the most of it. I can do, see, and enjoy more with my scooter than I can on foot. Plus, I have found a real niche market for it. As most of you know, I live in Florida and love the theme parks – especially Walt Disney World. I’ve had a fair few visitors here over the last few months and have really mastered Disney’s Fast Pass system. I can race ahead from attraction to attraction to obtain Fast Passes for everyone in our party, saving time and their legs. I can also get out of a torrential downpour faster than anyone too!

My hope is that with diet, exercise, and infusions I will be able to transition from the scooter to a wheeled walker, and then from there a cane… and then? Who knows… maybe nothing at all. We have no idea what the future holds for Pompe patients, but I will keep fighting to win back as much of my independence as possible!

Giving in to the need for mobility devices may seem like losing the battle, but with Myozyme and Lumizyme in our arsenal we can win the war!

Diagnosing Pompe

It was a zebra, not a horse, that left the hoof prints.

Pompe Disease can be a challenge to diagnose. It is so rare many doctors do not even think to look for it. It is the zebra, not the horse, that left the hoof prints. After I was finally diagnosed with it my GP said, “Pompe Disease is one of those rare diseases we read about in medical school and then never hear about again – let alone see it in a patient.”

My path to diagnosis started with headaches. Others have experienced different symptoms from hair falling out, difficultly breathing, and of course muscle weakness. One patient I know was even told at one point she did not have Pompe! The disease mirrors other forms of muscular dystrophy and effects each patients differently, so it is no wonder why the average diagnostic timeline spans over years, often including at least one misdiagnosis.

Doctors don’t automatically look for Pompe Disease and often dismiss symptoms as not being related to a bigger condition. My neurologist in Las Vegas knew I had some form of muscular dystrophy and strongly felt the headaches were related. But when I was sent to UCLA for a diagnosis, the “specialist” there wanted nothing to do with my headaches or other symptoms I was experiencing including shortness of breath and coughing. He sent me back to Vegas and told me to deal with these problems individually as he was only going to address my muscle weakness. Everything else was just “something else” and couldn’t possibly be related to a Muscular Dystrophy as he had never seen anything like that before. This is also the guy who told me a muscle biopsy wouldn’t hurt and refused to give me any post-operative pain killers. I have ranted about the crap care I received at UCLA in earlier posts, so I’ll try to keep it to a minimum here while making my point – which is, don’t dismiss symptoms as being unrelated and do not let your doctors do that either. If you suspect you or a loved one may have Pompe Disease or another form of muscular dystrophy, every clue is important.

 

Don’t be afraid to ask for a second opinion. Don’t be afraid to ask your doctor to specifically test for Pompe.

The headaches, we now know were occurring because of the weakening of my diaphragm and other muscles surrounding my lungs. Morning headaches are a very common symptom of Pompe, a symptom that the “specialist” at UCLA so casually dismissed. When I finally got fed up with UCLA, I sought answers at the famed Mayo Clinic in Rochester, Minnesota. The neurologist I saw there, did not dismiss my headaches and actually successfully treated them.

Pompe Disease can wreck havoc on the body in so many different ways. One family was sent on their diagnostic journey when their youngest daughter’s hair started falling out in clumps. They were also told by one doctor that this was not related to Pompe, but they have spoken with other Pompe patients who experienced the same symptom.

Bottom line is this: most medical professionals know very little about Pompe Disease. Unless you are lucky enough to been seen by the Mayo Clinic specialists or the Dr. Barry Byrnes of the world right away, your diagnostic journey could be a long one. You have to do your own research. Read as much as you can, talk to as many experts and other patients as you can. The information shared between patients is invaluable as there actually is very little literature freely available to the public out there on Pompe. Get yourself to an expert who knows and has seen Pompe if you can. Ask for a blood test to confirm diagnosis hopefully before they put you through a painful, expensive, and scar-leaving muscle biopsy. Pompe Disease can be diagnosed through a blood test which is sent to Duke University. The test results can usually be turned around in less than a week and only costs about $250. Most insurance companies will pay for this test. If you feel your are running out of options in your local area and traveling to Mayo or somewhere else is out of the question, then reach out to your local Muscular Dystrophy Association. They are a wonderful resource and can help ease the path to diagnosis.

With Pompe Disease, early diagnosis is key as it is a progressive disease. The sooner a diagnosis is made the sooner you can start the life saving enzyme replacement therapy.

You have to be your own, or your child’s, advocate!

I think we should adopt the zebra as our official mascot!