Maddie's Mission

Sisters, Sisters There were never such devoted sisters Never had to have a chaperone "No, sir" I'm there to keep my eye on her Caring, Sharing Every little thing that we are wearing All kinds of weather We stick together The same in the rain or sun Two diff'rent faces But in tight places We think and we act as one Those who've Seen us Know that not a thing could come between us On Wednesday, February 10th I received a call from the genetic counselor at CHOP with the sibling test results. She started by saying, "Well, Carter's CK enzyme levels are within the normal range at 80. However, Emma's are..." I stopped her there before she could say it and told her, "That's not the way you're supposed to say it. You're supposed to say... good news, everything is normal." But that was not the message. Emma's CK enzyme levels were at 796, very similar to Maddie's. Emma has Pompe also. Friday morning we were...

You've got a friend in me, You got a friend in me. When the road looks rough ahead, And you're miles and you're miles from your nice warm bed. You just remember what your old pal said, Hon, you've got a friend in me! Yeah, you've got a friend in me! Who do you think of when I say the word "friendship"? - Abbott and Costello, Batman and Robin, Bert and Ernie, Cheech and Chong, Gumby and Pokey, Barbie and Ken, Lenny and Squiggy, Oscar and Felix, Spongebob and Patrick, or Starsky and Hutch?   Perhaps it's her easy going attitude, fun loving spirit, or ease in connecting with others.  Whichever it is, Maddie is one of those kids who seems to make friends easily.  She is also one of the fortunate few to have friends she can confide in and share the strong friendships at her age when life is still innocent and filled with wonder. This week she was blessed to add a new friend to the list.  A friend who she wasn't expecting and one with whom...

The road is long With many a winding turn He ain't heavy, he ain't my brother CHOP called today with our genetic test results. I felt like a first time mother waiting for the doctor to call with the big news. After all, we have The Crowley Pompe Connection going. We share the very rare "null gene" that produces no enzyme and according to Genzyme we belong to a very elite club. What a story to tell the grandkids! But, then the genetic counselor said those words, "Well, you are not related to the other Crowleys!". What? How can this be? All my life I've considered myself a bit of a mutant. But, NO, Donna has to take center stage again and have the "null gene". All I am left with is an intronic splice at the sixth position. I mean come on! So, I picked up my pride and listened on. The tests confirmed Maddie did receive one defective gene from each of us as expected. What's next? Now Carter and Emma will be examined and tested to s...

Last Thursday, Donna and I had lunch with more of our extended Genzyme family.  Sarah is in their Personalized Genetic Health team working with the area doctors.  Constance is an RN and Patient Care Liason who works as an trainer and advisor to doctors and home care companies when they set up IV therapy.  She will be at our house when Maddie begins her home infusion - - in 2011. Before the waitress took our drink orders we learned that we know more about Pompe than we expected.  However, there is much to learn.  For example, the US has only a few hundred Pompe patients so when they say rare, they mean rare!  Several times Constance reminded us that we are in a very elite club because Maddie has one gene producing no enzyme and one producing only a little.  I wanted to reply with my favorite Groucho Marx quote, "I don't want to belong to any club that will accept me as a member", but I contained myself and just smiled. ...

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...