Maddie's Mission

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...

Hello everyone, Please mark your calendars. On January 22nd, the movie Extraordinary Measures will be in theaters. This is the story of John F. Crowley's search for a drug to save his children's lives who were diagnosed with Infantile Pompe Disease. The movie website is http://extraordinarymeasuresthemovie.com/. Be sure to check the site for the trailer or on YouTube. http://www.youtube.com/watch?v=Q3WCVWHJzaI While we are not related to John F. Crowley (as far as we know today) the story and timing of the movie release are nothing less than serendipity. We hope the attention and success of this movie will continue to raise awareness of Pompe disease and lead to improved therapies and patient support. We were in New York City this week and everywhere we turned Maddie spotted a sign promoting the movie. Here's a photo we thought you'd enjoy. We wish you and yours a Happy New Year! Matt and Donna

The long and winding road That leads to your door Will never disappear I've seen that road before It always leads me hereLead me to your door. Hello all. Thank you so much to everyone who has visited Maddie’s blog to date. We are humbled by the response and empowered by all the positive comments. I thought it might be helpful to briefly explain how we got here, so here we go… In May 2009 Donna noticed Maddie was losing some hair so took her to the pediatrician who ran blood tests to see if she had a thyroid problem, mono, or other issue that might be linked to hair loss. The results came back showing elevated liver enzymes which caused the doctor (thankfully!) to forward the information to the top liver specialist at CHOP. We met with Dr. Rand who was wonderful and assured us that they would determine what was going on. Maddie then had a liver ultrasound and additional blood tests to rule out a number of possible culprits. The results showed an increase in the CK enz...

Madeline Jane Crowley is an 11 year old girl living in suburban Philadelphia who was diagnosed with Juvenile Pompe Disease on November 18, 2009. Maddie is a vibrant child filled with humor, energy, and wonder. She believes in her family, friends, doctors, and the magic that can happen when people dare to believe. Her care is being lead by Dr. Bonnemann MD, Asst. Professor of Neurology and Pediatrics, at Children's Hospital of Philadelphia (CHOP), and includes a team consisting of a Genetic Counselor, Physical Therapist, Clinical Trial Specialist, Nutritionist and many others. Maddie will begin treatment with Genzyme's Myozyme drug in January 2010. What this means, we don't know. But we do know that our family and loved ones will support her every step of the way. Whatever happens we will fight for our daughter and will succeed in helping her and many others battling this disease. All for one, and one for all! Sincerely, Matthew and Donna Crowley