Maddie's Mission

Gotta make a move to a town that's right for me, Town to keep me movin', keep me groovin' with some energy... Before Lipps, Inc. busted onto the music scene with the catchy lyrics and electronic pulse of Funky Town, I wonder if they were inspired by a late evening visit to CHOP's MRI Department. OK, you are saying..he's finally lost it...why am I reading this...and...I thought this was supposed to be about Maddie. So here's the story: Last night Maddie had her 7 PM MRI appointment at Children's Hospital of Philadelphia. Now, if you've been to a city hospital at night you expect to see some interesting things and we did. However, we did not expect Mr. Funky Town. More later... The doctors require a brain MRI prior to initiating the Myozyme treatments. According to our doctor at CHOP and neurology.org, strokes related to intracranial aneurysm have been reported in three late-onset Pompe patients so, while very rare, they run a baseline test to determine

To me, few things motivate like a football coach's pregame speech. It's the call of men into battle and the reminder that as a team we can achieve anything. This past summer, I was very fortunate to join my son's football team coaching staff. After several practices and games the boys would chant the following pulled from a Georgia Tech football speech: We're Gonna Fight, til we can't fight no more. Then we'll lie down and bleed a while. We're gonna get back up, And fight some more! Last summer I found that speech motivational, but mainly focused on 12 and 13 year old boys headed out to the Marsh Creek football field. One benefit of the movie "Extraordinary Measures" is the added awareness of Pompe Disease through the stories of patients from around the country. While some of the stories may be a tough read and do not represent Maddie's experience, each of them show an individual or family's faith and commitment to fight, get bac

I want to live, I want to give I've been a miner For a heart of gold It's these expressions I never give That keep me searching for a heart of gold This week Maddie and Mom had another visit to CHOP. This time is was for an electrocardiogram and echocardiogram. According to my friends at WebMD, and electrocardiogram (EKG) checks for problems with the electrical activity of your heart by translating electrical activity into line tracings on a paper. An echocardiogram uses a hand-held device which transmits high frequency sound waves (ultrasound). These bounce off the heart structures, producing images and sounds that can be used to detect heart damage and disease. It was good news all around. The heart is regular size, pumping normally, and shows no signs of thickening of the walls or gylcogen buildup (related to Pompe). I'm not sure how you feel reading this, but the news made this Grinch's small heart grow three sizes that day! Keep it up Maddie! Thanks for the contin

We have heard a couple things in the past few days. We have heard from some wondering what they should tell their kids about Maddie and Pompe disease and from others that some misinformation may be circulating. Regarding the first, I'll summarize what we have learned from the speacialists and what we are communicating in our house. Maddie has a rare, genetic, progressive neuromuscular disease named "late onset" Pompe. She will start treatment in the coming months and remains a normal, healthy girl. Since we have caught this early and medicine is available, the long term prognosis is good. The treatments will prevent future muscle damage and medical advancements will bring therapies in the coming years. In response to the misinformation, Maddie will grow old and grey just like you and me. Before the creation of the medicine, children with Infantile Pompe faced a dire situation while the adult onset patients were faced with years of challenge. Today, out of the ten patients

Oh I get by with a little help from my friends. Oh I'm gonna try with a little help from my friends. With a little help from my friends… Our long awaited appointment at Children’s Hospital of Philadelphia (CHOP) on January 6, 2010 has finally passed and was well worth the wait. I’ll apologize ahead of time for the length of this post as I summarize a five hour appointment. Yes, five hours. First off, we finally met with all our new friends on Maddie’s Team. I will name them here because we will use the names often in the future posts. Get ready…the list is a bit long. The CHOP team includes Dr. Bonnemann and Dr. Finkel in the Neurology Department, Dr. Mayer in the Pulmonary Department, Livija the Genetic Counselor, Allan the Physical Therapist, Donna the Dietician, Joan the liaison to Genzyme and Alan, Social Worker/Coordinator. The extended team includes Dr. Barry Byrne at the University of Florida; the folks at Genzyme including Dr. Edward Kaye the Vice President for Clini