Month: May 2010

Baby Steps

Last week I noticed I was consistently having an easier time walking short distances than I had just a month ago. I’m still not ready to sign up for a 5k (doubt I ever will), but it is progress. I have only been on ERT since March, but that coupled with my high protein, low carb diet I think has helped. I can’t believe it!
I know it may not sound like much, but it really is huge to me. I was spiraling downhill so fast for so long, that to feel as if the treatments have not only slowed or stopped the progression of the disease, rather it has actually started to improve is, in my book, a miracle. I never expected to feel the benefits of treatment this soon.
There is hope.


Seeking FDA Approval – Again

Genzyme hopes the FDA will approve their drug alglucosidase alfa (which is my ERT drug) on June 17,2010. The odds are mixed to whether or not this will finally happen as they have been seeking FDA approval for commercial use of this drug for years. They have experienced set-backs in the production of this drug at their manufacturing plant in Massachusetts.

Anticipating growing global demand, the company was moving production of Myozyme from Allston and a smaller facility in Framingham, Mass to a larger 4000 liter bioreactor scale in Geel, Belgium. However, upping production from 160 liter bioreactors to 2000L and 4000L scale-vats required that Genzyme submit supplemental Biologics License Application (BLA) to both FDA and European regulators, as the agencies insist that similar biologics produced in dissimilar bioreactors cannot be considered identical products, due to differences in the carbohydrate structures of the molecules in the so-called brews. Confused? That’s OK: the bigger tubs of alglucosidase alfa will continue to be sold under the Myozyme brand in Europe and under the Lumizyme title stateside. — BNET.Com, November 19, 2009, “FDA Delays Genzyme’s Lumizyme, Manufacturing Problems Blamed” *

What this means for Pompe patients is that, if it is approved those not currently receiving the drug through an ATAP study should be able to get it. And for those of us in an ATAP study, the study will end and we’ll join everyone else in the commercial use of the drug – and having to pay for it. Let the insurance battles begin!

To view the full story click here.

Pompe Everyday

Having traveled my entire life, having lived on three continents, and having to add more pages to my last passport means I’m almost always looking for my next vacation get away. Too bad I can’t ever take a vacation from Pompe. Pompe is with me everyday, there is no packing up and leaving it behind like you can do with most problems like work, stress, or those “crazy” family members.
Pompe touches everything I do from the moment I wake up in the morning to the moment I fall asleep – and it doesn’t stop there. Pompe effects how well I sleep too. I thought I’d take some time and highlight how challenging it can be to live moment to moment while fighting Pompe. Notice I say “fighting” and not “suffering from” because that is how I approach everyday life with Pompe. I fight.
Rise and Shine.
When I wake up in the morning, I can’t just pop out of bed like I used to. I have to carefully raise myself out of bed to a standing position. This can be a slight struggle, but it is something I have gotten used to. I then have to gain a sense of balance before I can start to walk and hope that I slept correctly so I can avoid those ever so common Pompe morning headaches.
Stairs and Chairs.
I can struggle and pull myself up a few steps here and there, as long as there is a handrail. I almost never go down stairs because the risk of falling is too great and it would be a huge set back in my treatment plan if I were to injure myself. Chairs present an interesting challenge – like snowflakes, no two ever seem to be alike. While sitting is a nice break from standing, which I can’t do for too terribly long, if there is not a “decent” height chair for me to rest in – I usually just tough it out and stand. I then hope that I have not tired myself out too much when it comes time to walk again. This is one of the reasons I spend a lot of time out in public in my scooter as I never know what the chair situation will be in any given situation. I have however gotten really good at judging the height of chairs and can tell just by looking at them if I’ll be able to get out of them, but sometimes an overly soft chair will fool me. Bad chair.
Time to Dine.
I have to think about everything I eat – I wrote more about this in an earlier blog entry. Because I am on a high protein, low carb, low sugar diet I can’t just grab whatever is convenient. Meals and snacks take some planning. If I am eating in a restaurant, not only do I have to consider the chairs, I have to choose my entrees carefully. When in doubt, I talk to the chef. I try to think of it more of what I can eat, rather than what I can’t eat. And really, there is a lot that I can eat even when dining out and sometimes it gives me an opportunity to try something new.
Beauty Babe.
Because of the weakness in my shoulders and upper arms, I now have trouble washing and styling my hair. I have to bend my head down so my hands can just barely reach my head to shampoo and condition it. I can’t really put my hair up anymore without a struggle, not even in a simple ponytail. If I’m sitting in certain chairs that support my back, but also allow me to lean my head back, I can usually manage a kind of sloppy ponytail, but even that seemingly simple task can take a lot out of me. Luckily I have no problems washing my face and applying make-up, so I’m not likely to leave the house barefaced and scare little kids too much! I’ve taken to using an electric shaver on my legs as trying to balance on one soapy leg while holding a sharp razor next to my skin is not really a good idea given my current strength level. And sitting on the edge of the tub is not really an option as I’d never be able to get back up again.
Fashion Forward.
Shoes and outfits have to be carefully considered and not just for the usual girly fashion diva reasons. No more heels for me as balance is an issue and I don’t need to up my level of difficulty just yet. Also, heels tend to be slick on the bottom, even with those non-slip pads. No matter how much of the that stuff I put on the bottom, just the tiniest bit of heel can slip and down I go. Many of the cute flats present this same problem so I have to go with shoes that have great grips – Converse Chucks and decent flip flops are my shoes of choice right now. I’ve also been avoiding skirts and dresses simply because of my fear of falling and, well, flashing people. Luckily an 80s trend has come to my rescue – leggings. With leggings I can now sport fun and flirty skirts and dresses with my Converse and flip flops no doubt! Please don’t call the fashion police on me just yet – I’m working on it.
These are just the highlights and new situations will bring new challenges. But as you can see, Pompe really does touch everything I do, every moment of every day. I start physical therapy this week, which will help me improve my movement and strength, but I’ll almost always have to use creativity and tenacity to accomplish day to day tasks that I used to take for granted. And physical therapy, like Myozyme will not “fix” me overnight – it will take a great deal of time and effort to see improvement. Whatever happens, somehow, I’ll manage. Pompe may have won the battles, but I will win the freaking war!
What are your day to day struggles, and how do you tackle them?

Myozyme: One of the most expensive drugs on the planet

My friend Matt, who has been a constant source of information through his blog about his family’s journey with Pompe, has uncovered an interesting article from Forbes about Myozyme.

When people talk about expensive drugs, they usually are referring to drugs like Lipitor for high cholesterol ($1,500 a year), Zyprexa for schizophrenia ($7,000 a year) or Avastin for cancer ($50,000 a year). But none of these medications come close to making Forbes’ exclusive survey of the most expensive medicines on the planet.

The nine drugs on our list cost more than $200,000 a year for the average patient who takes them. Most of them treat rare genetic diseases that afflict fewer than 10,000 patients. For these diseases, there are few if any treatments. So biotech companies can charge pretty much whatever they want.

Myozyme, manufactured by Genzyme, makes Forbes’ list. Every two weeks I journey to the University of Florida to receive my infusion of Myozyme. Genzyme sends the tiny bottles of Myozyme to the pharmacy in powder form. The pharmacy will not start mixing the Myozyme for the IV bag until I contact them to tell them I am on my way. Mixing the Myozyme takes an hour and once the powder is mixed with the solution it is only stable for a number of hours. If the patient doesn’t show up, the very expensive drug has to be disposed of.

Myozyme, which inspired the Harrison Ford movie Extraordinary Measures*, costs up $100,000 for a child. But according to Genzyme, the average cost of adult treatment is $300,000 a year.

That is $300,000 a year for the rest of my life! Currently, my treatments are free as Genzyme has made the drug available to some adults through clinical trials as they await final FDA approval. Genzyme is optimistic the FDA will approve the drug for commercial use this summer which means I will have to start paying for my treatments, but it also means the drug will be available to adults with Pompe who don’t qualify for the clinical trial and therefore are not able to receive treatment at this time. FDA is scheduled to inspect Genzyme’s manufacturing plant in June, so we’ll soon know more about the fate of Myozyme and when it is going to start costing me $300,000 a year. Because of this price tag I will most likely live in poverty the rest of my life, but at least I will be able to live a life thanks to the magic medicine.

The price could come down as other pharmaceutical players join the game, but that is many years off and the price is not likely to plummet to Wal-Mart prices. Both Biomarin and Zystor are working on developing their own enzyme replacement therapy (ERT) drugs for Pompe, but they are both in the initial testing phases. I contacted Biomarin back in March 2010 to inquire about their progress and they responded with:

BioMarin Pharmaceutical Inc. has begun a program to develop an enzyme replacement therapy for Pompe Disease. Please note that this candidate molecule (BMN-103) is still in preclinical or animal testing. Further details of the product development timeline have not been announced and no further information is available at this time.

According to ZyStor’s website:

Despite the strong sales of these drugs [ERT], they are generally characterized by varying degrees of suboptimal ability to target the lysosome, need for the infusion of high doses and difficulty in manufacturing.

ZyStor’s lead product candidate, ZC-701, is an enzyme replacement therapy for Pompe disease that, based on pre-clinical evidence and manufacturing experience to date, overcomes these limitations.

In the future, more versions of ERT may be available and, according to what ZyStor seems to be working on, the newer versions of ERT may work even better than the current drug. If Genzyme, ZyStor, and Biomarin all have Pompe drugs on the market then I suspect they will continue to try and out-do one another by improving their respective drugs. Although all these possibilities are a long way off, they really do offer hope to the Pompe community.

You can read the entire Forbes’ article here: The World’s Most Expensive Drugs

*Extraordinary Measures will be available on DVD on May 18.

Another Day, Another Infusion

Me every two weeks - forever!

I had another Myozyme infusion yesterday, and as par for the course it went well again. I am very grateful for that. We are out of the “danger zone” as far as looking for an adverse reaction with the initiation of the infusions. That doesn’t mean I couldn’t still develop something, but the chances of that now are greatly reduced. Or at least in theory as technically speaking Myozyme is a clinical trial drug for adults. I had my own private room this time, which was nice. I could turn off the lights and snooze in the bed or watch TV. Which is no big deal since daytime television leaves something to be desired.

 I am scheduled to start physical therapy next week. I’ll meet with a doctor at the facility and from there we’ll develop a regular schedule. Now comes the really hard part – the physical part. Being hooked up to an IV every two weeks is easy because the nurse and the IV pump do all the work. Physical therapy will probably wear me out – but in a good, healthy, productive way. Maybe I’ll even start to show small signs of improvement.

That being said, a lot of people have asked me if I’m feeling better after my infusions. Honestly, I can only say that I’m not feeling worse, but after a year of going downhill rapidly, not feeling worse for a few months is a

Good stuff in to take bad stuff out.

tremendous improvement. I have only had four infusions and it is still way too early to tell. The Myozyme, while it often referred to as the Magic Medicine, takes time to work. It will not “fix” me after just a few sessions. It could take months or even years before I see/feel an improvement and that is IF there is any improvement. This form of enzyme replacement therapy (ERT) is very new and as I mentioned is still technically in the clinical trial form for adults. The drug was only recently approved by the FDA for commercial use in children. Patients have not been on the drug long enough to really allow doctors to make any real predictions about how the drug will help and each case is very different. In essence all of us adults on ERT are lab rats and the results are pending. But every step now, is a step in the right direction – the long, long road of fighting Pompe. At least now with ERT I finally have a proper tool to fight with. Before it was like trying to fight a monster with a bubble wand – now I have a big club, so look out Pompe monster.

The Myozyme has a lot of work to do and it can’t do it alone. I have to help it through diet and exercise. My lack of the GAA enzyme has allowed glycogen to build up in my muscles for years, so the Myozyme has a lot of glycogen to pull out while keeping new glycogen from being stored at the same time. This is where the diet comes in. The less sugar and carbs I consume, the less glycogen needs to be stored and then fought by the Myozyme.

I think of my Pompe Disease as a runaway train. Until my diagnosis a few months ago, we had no idea how to stop it – or even what track it was on. The Myozyme helps slow the train down but it will never stop it completely. And the train has been running away for so long undetected that it will take time to slow down. During the train’s runaway days it caused some damage, some irreparable, along the way and we are now riding an ADA accessible transportation vehicle. Once the train has slowed to a reasonable speed the Myozyme can go back and try to repair some of the damage left behind. In the meantime, I can assist the Myozyme in its heroic efforts to stop the life threatening train by sticking to my diet and, soon to be implemented, exercise program. The train will continue to run away as no one knows where this Pompe Express will take us, but maybe just maybe it will slow down enough to let us relax a little enjoy the scenery. All aboard!

The “D” Word

It seems like everyone has had a doctor at one time or another who has told them to go on a diet. Either to loose weight, control cholesterol, help their anemia, there are even diets that allegedly help with conditions like Autism. Does what we put in our bodies really have that big of an impact on our overall health let alone individual health concerns or diseases? With Pompe Disease I would have to say emphatically yes it does have an impact. Because Pompe Disease patients lack the enzyme to break down glycogen, it just makes sense to consume less food that your body will store as glycogen. 

Bye-bye bread. But what will I put my peanut butter on?

That means a high protein low carb diet for me. Proteins are not stored as glycogen and carbohydrates and sugars are. So it is hello bacon and eggs for breakfast (maybe even green eggs and ham) and good-bye yummy nummy pastries and even cereal. Eating at home is fairly easy as I can control everything and look at the carb counts. Steaks or burgers (no buns) from the grill, cheese, salad with full fat dressing. When something is low fat they add sugar to improve the taste, so when it comes to salad dressing and dairy products I can’t consume low fat options. This is where it gets tricky when eating out – there are so many hidden sugars in sauces and dressings. For example – Not that I can eat pasta anymore, but there is usually a lot of sugar in marinara sauce.
Luckily, however, I live in a “tourist” area where guest service is practically an art form. If I know I’m going to eat out and I’m not sure about the ingredients in the menu offerings I can contact the Chef who is usually more than happy to accommodate me. Often it is almost like a challenge they are excited to take on. I guess preparing entrees with a low carb and sugar count for a Pompe patient could break up the monotony of a regular day. A Pastry Chef at the Ritz Carlton seemed rather eager to “experiment” with a crème brulee using a sugar substitute for the glaze. And of course the wonderful team at Walt Disney World is more that willing to take on the challenge – with mouse ears on! I was lucky enough to get in contact with an Executive Chef who was familiar with Pompe so he was immensely helpful and supportive.

When 5 star chefs are not available I can usually play it safe by ordering a burger without the bun or some other protein based entrée without the “starchy” side like potatoes or rice. Often they will let me substitute a small salad in place of fries or rice. Salads are also pretty safe as long as the dressing is not diet.

Where this new diet falls short is in the dessert area. Sad. What is life without

Add some cream and I'm all set! Yum!

 desserts? That is where I get creative. Sugar free desserts are not enough as those are usually still high in carbs. Breyers does make a low carb vanilla ice cream which has helped fight off those ice cream cravings. But berries or peaches with cream makes an even better low carb alternative to ice cream. And I love it!

Packing snacks or a lunch that is low carb can be somewhat of a challenge too. A cheeseburger without a bun is not only difficult to pack, but it usually doesn’t keep warm too well. When I go for my infusions I usually take some of the following along with me:

  • Cottage cheese
  • Tuna or chicken salad
  • String cheese
  • Almonds
  • Ham rolled with cream cheese
  • Atkins bars
  • Carrots and dip
  • Grapes
  • Olives
It is not exactly a “meal” but it is enough to get me through a day spent in the infusion chair. There is a Subway in the hospital lobby where I can order a salad, but really it is not that different, as far as variety, than what I can pack and take with me from home.

I never drink soda or coffee drinks anyway, so beverages are not really an issue. Most of the time, even before my diagnosis and corresponding diet, you can find me drinking water. Occasionally I’ll “get crazy” and drink tea.

A lot of people have asked if it was hard giving up things like bread and potatoes and the answer is: no. I mean, sometimes I’ll see something that is on the “bad’ list that looks good, but that is only momentary. I know that putting these things in my body is bad for me. I have taken it a step further and actually reprogrammed myself into thinking that carb and sugar loaded items will kill me. It is really as simple as that. So when I think of rice or cookies as “poison” then, no, it is not hard to pass them up. It is all mind over matter.

Giving up carbs and sugars is a small price to pay for, well…living.