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.