Month: December 2010

Everything Changes


The leaves changing colors during a recent trip to Washington DC - see change can be beautiful!

The weather changes with the seasons (in most places), children grow up, Bath and Body Works discontinues your favorite line, and the word Pompe Disease enters your vernacular essentially changing your life forever. When Pompe enters your world, whether you are the patient or a friend or family member who has agreed to brave the journey with one of us – everything changes.

Suddenly, (for many who have this option available) every other week finds you hooked up to an IV for most of the day receiving a live saving drug – Myozyme or Lumizyme. For some it means having a port surgically inserting into your chest. And for other is means relying on a machine to help you breathe. For me, it means a adhering to a strict high protein diet and physical therapy regime. It also means sharing my story here and in the media and to whoever will listen – even if it means beating down doors, holding people down and forcing them to listen.

Change can be scary – in any situation. Fortunately, I usually adjust well to change as it is all I’ve ever really known. I’ve learned to roll with the punches and pick myself up (literally and figuratively), dust myself off, and try again. I’m not as strong and as fearless and I may sound. I have moments where I do want to give up, where it just seems too hard and incredibly unfair, but luckily they are just moments and they pass. These moments are important because they help me realize that this battle is hard, and it is ok to become frustrated. Just as long as I don’t stall out in a moment of despair, but instead regroup and focus on what is really important. Often these moments of frustration come when I’ve lost focus of the goal – with Pompe, I’ve found that you can never take your eye off the ball.

They say what doesn’t kill us only makes us stronger. Well Pompe is trying to kill me, so does the fact that I’m not going to let it and that I choose to fight back make me stronger? So, is this a battle worth fighting? Is it a battle that any of us can win? I think so and believe it is worth fighting. Fighting to regain as much strength and independence as I can. Fighting to raise awareness. Fighting to develop new treatments and even a cure.

Did I mention that I’m incredibly stubborn? That helps A LOT!

Some people go through life not knowing where to focus their efforts or what is really important – it is a no-brainer for me. I fight against Pompe, for myself and for others. No matter how hard it gets or how the battle changes, there will always be warriors and heroes out there fighting the good fight. Whether it is a parent working a second job to help pay the medical expenses, or the sleep deprived scientist working in the lab developing a better treatment, or the Pompe patient working through the pain and weakness in physical therapy – there will always be resistance to this horrible disease that seeks to destroy us. The fight may at times seem lonesome, but there are people all over the world fighting their own personal battle against Pompe and from one another we can draw strength, especially during those moments of doubt that we all have.

Like I said, change can be hard. It can be frustrating. But we need to adjust to new things otherwise we’ll lose the battle. For example, I have to change insurance plans in a matter of days. This is more than just a hassle with paperwork, it is going to cost more – a lot more. My premiums will be almost double, my co-payments will be double, and my deductible is increasing considerably. Technically my insurance company should allow me to stay on their plan for 11 more months, but due to a nightmare of paperwork bureaucracy and misinformation they have decided to drop me. Now we all know they could do the “right thing” and allow me to stay on their plan for another 11 months, but insurance companies hardly ever do the right thing for patients, they do the right thing for the bottom line. And having someone with Pompe disease on the plan is terrible for the bottom line. Did I want to tell them to have a Merry Christmas and a Happy Go To Hell? Of course! But that wouldn’t have solved my problem. Luckily I have a wonderful Genzyme Case Manager who is helping work through all the nightmarish paperwork that comes along with signing up for a new plan with a pre-existing condition. She assured me I had nothing to worry about. So, while this change – in a word: sucks, there is hope out there for me. Somehow it will all work out and I’ll continue to receive Lumizyme which will allow me to fight the good fight.

Everything changes, and with Pompe as part of the equation things can change quickly and dramatically. Life with Pompe is never dull, and no matter how it may feel at times – you’re never alone. There is a wonderful support community out there between the other patients and families, the folks at Genzyme, and the dedicated doctors and nurses – there is always someone you can reach out to, you just have to be willing to reach out. And please remember to pay it forward to another lost soul when the opportunity presents itself, and it will present itself.

We can’t always control the things that change in our lives and there is no sense it stressing out about the things we can’t. Instead focus that energy and passion towards the things you can do something about.

And in the spirit of change… I decided it was time for a change – a change in my hair style! Hey, I said we need to focus on what we can change and didn’t say it couldn’t be (at least every once and awhile) superficial! Wink! Wink!

New Year, New Resolutions?


NOT a New Year's resolution list.

I don’t make New Year’s resolutions. I think they are a waste of time because I believe that if you want to do something, make a change in your life, that you just do it. You do it when you’re ready to commit to it, not when it is time to hang a new calendar on the wall. I feel New Year’s resolutions are just an excuse for people to put off that diet or promise to start a new hobby or become a better housekeeper until after the first of the year. This is why so many New Year’s resolutions fail. They are not lifestyle changes which is what you really have to do in order to make a long lasting changes in your life.When I was diagnosed with Pompe I made it a priority to change my diet and start and physical therapy program. The high protein diet started in March and PT started in June and I’m proud to say that I’ve been committed to both ever since. I don’t need to wait until January 1 to make changes in my life, I make changes when they need to made.

So when you’re making out your New Year’s resolution list, ask yourself if these are things that you’re just doing because it is the thing to do this time of year, or if they really are lifestyle changes you’re prepared to make. And if they are the later… why not start right now?

Happy New Year! I hope whatever you hope to accomplish in 2011, you find the strength and willpower to commit to it!

Last December


It was early December 2009, and my Aunt Jan and I were on one of my many medical adventures. We were in Rochester, Minnesota (during a blizzard) at the Mayo Clinic searching for answers. I have to give a shout out to my “Awesome Aunt” because she really came through for me. Not only did she battle a blizzard in our quest for answers, but she and my Uncle Gary battled horrible LA traffic and even a brush fire while ushering me back and forth to my UCLA appointments.
2009 was a really rough year, filled with pain, uncertainty, fear, and frustration. But as 2009 drew to a close the uncertainty eased up and led way to hope. The hope of a diagnosis and the hope of treatment. We left Minnesota hoping they could confirm the diagnosis of Pompe. I know that sounds strange to hope for a life-threatening neuromuscular condition, but at that point I was in so much pain and was going downhill so fast I needed something to hang on to, something to fight and Pompe was something I could fight.
As I look back on the past year, I can’t believe how different 2010 was from 2009 for me. In 2009, I was pretty much house bound because of the unbelievable pain and weakness I was experiencing. I only left the house for endless doctors appointments which always seemed to bring more questions than answers. I had to go on medical leave from my job. My deadbeat landlord stopped paying the rent on my condo, so I was forced to move in the middle of my ongoing medical mystery nightmare. Luckily, my dear friends helped me pack up, because there was no way I could do it myself in my weakened condition. Oh, and did I mention the air conditioning went out in the condo while we were trying to pack up my stuff – in the Las Vegas heat! Really? Yes, really. It is almost funny now – almost.
Early in 2010 my diagnosis was officially confirmed – the same week the movie Extraordinary Measures was released in theaters! I finally had the information I needed to fight back – to start rebuilding what Pompe had destroyed: my health, my independence, my optimism, my life.
Flash forward to present day and I’ve received 19 life saving infusions of Lumizyme. I have an amazing medical team who actually listen to me and work together to help me achieve each goal we set. I’ve met a wonderful online community of other Pompe warriors all over the world. I’ve been going to physical therapy and sticking to a high protein diet which combined with my infusion have resulted in regained strength and mobility. I’ve worked with both the MDA and Genzyme to help spread awareness about Pompe Disease. I’ve begun to travel again, making up for lost time.
As 2010 winds down, I have to wonder what 2011 will bring. There are new opportunities on the horizon for me to “educate” the community, which I will share with you in time. There are new drug trials and new therapies being developed. More attention is being paid to rare/orphan diseases which will result in more funding for research leading to new ideas and treatments…. And hopefully one day… a cure.