My Life with Pompe and Enzyme Replacement Therapy - Monique Griffin
I was diagnosed with Pompe Disease in January 2010, after having been misdiagnosed with Inflammatory Myopathy 10 years earlier. A terrible fall that resulted in a serious concussion sent me back to a neurologist who upon looking at my medical history, didn't believe I had Inflammatory Myopathy. His hunch was correct and a muscle biopsy concluded that I didn't have Inflammatory Myopathy - he didn't know what I had. I was referred to a specialist hospital where I spent another 9 months being tested, when they were unsuccessful in helping me I was finally seen at the world renowned Mayo Clinic where I was finally properly diagnosed.
My initial symptoms started with mysterious headaches and my muscles began to weaken, making it difficult to walk, climb stairs, and rise from chairs. These symptoms progressed slowly throughout the 10 years, but when I suffered the concussion they sped up dramatically. While the team of doctors, all over the country searched for answers my health was rapidly declining. I started having serious trouble breathing, I was coughing constantly and could never seem to take a deep enough breath. I had constant headaches and was in unbelievable pain for most of 2009 and all the doctors could do was put me on pain killers which I had to take every two hours. My muscles ached so bad in my arms, legs, and back I couldn't function and was forced to stop working. During this time, I became so weak I was confined to a wheelchair. Between the massive amounts of pain killers and my lack of mobility, I was basically house-bound. I was in constant pain, I was losing more and more mobility and therefore independence and they still didn't know what was wrong with me. I was on the verge of going into the early stages of respiratory failure which would have put me on some sort of machine.
Finally after years of testing and guessing and researching I was diagnosed with acid maltase deficiency, or Pompe Disease. I quickly got myself enrolled in the clinical trials for the yet to be approved Enzyme Replacement Therapy (Myozyme). Since I was close to needing a machine to help me breathe I asked if we could hold off and let the medicine try and do its job. The Enzyme Replacement Therapy worked! After only a few sessions I was no longer in danger of needing a machine and the pain and headaches are almost completely gone now. I'm slowly regaining strength and taking my life back, I'm even looking at being able to return to work. I still need the wheelchair for long distances but I'm starting to make a lot of progress in physical therapy, so much so I'm able to walk on the treadmill more and more. This is all thanks to Enzyme Replacement Therapy. In the past, Pompe Disease has been a progressive life threatening disease where the end result is death due to respiratory failure. But today, the rules have changed and Enzyme Replacement Therapy allows Pompe patients to LIVE.
Had I not been put on Enzyme Replacement Therapy I have no doubt I would be totally confined to a wheelchair, in constant pain, and hooked up to machine to help me breath all the while slowly waiting for Pompe to take my life. The life saving drugs have not only saved my life, but because of them I'm starting to take back the independence that Pompe stole from me. Thanks to Enzyme Replacement Therapy I have a future to look forward to again, instead of staring death in the face. Pompe is treatable. Enzyme Replacement Therapy saves lives. To deny this treatment to a person with Pompe is sentencing them death. I am so incredibly thankful for my Enzyme Replacement Therapy and wish it was available to my fellow Pompe sufferers worldwide.