Friday, January 22, 2010

The MRI in Funky Town

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, 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 if there are any issues. Maddie was very brave through the whole process. From getting an IV line in her hand so they could add contrast media, to lying in the MRI machine for an hour, to trying to imagine a symphony made from the annoying banging sounds the machine makes, she was a trooper. She was a bit scared and tired after the ordeal, but left the hospital in her usual positive self saying, "Well at least that's behind me."

Back to Mr. Funky Town. So here we are in the waiting room at 7 PM with four adults all looking much more tired than I felt and doing what they could - in silence - to keep calm while their kids where having MRIs. That was until the silence was broken by a cell tone playing the tune we all know and love, Funky Town. Then came the guessing, who's was it? The young couple playing the Connect Four game in the corner? The lady fast at sleep in the chair next to us? Or, the well kept Grandfather who was carefully reading his paper?

Of course it was Grandpa who casually reached into his coat and answered the phone like it was nothing, not once, but twice. That's right, Grandpa's got soul!

As expected Maddie turned to us with eyes raised and a little smile that made the night OK. When we drove onto the highway, I told Maddie that it will be those moments that keep us sane on our Pompe Adventure. Sometimes, laughter is the best medicine.

Gotta move on, Gotta move on...

Have a great weekend,

Credit to: Lipps, Inc., "Funky Town"

Wednesday, January 20, 2010


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 back up and fight some more.

I have thought a lot about sources of inspiration the past weeks. I've decided that those who quietly battle for their families, their friends, and, in this case, themselves inspire me. If you have time, please review the "Pompe In The News" section of this blog for some of these stories. Hopefully you too will be inspired.

All for one and one for all!
Matt Crowley

Wednesday, January 13, 2010

The Heart of Gold and the Grinch

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 continued support,
Matt Crowley

Credit to: Neil Young, "Heart of Gold"

Sunday, January 10, 2010

Just the facts...

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 treated locally, some are over 60 years old.

We are not surprised there is confusion because of the commercials for the "Extraordinary Measures" movie and what you may find with a Google search. There is no doubt the road ahead will be filled with struggles and tears. However, it will also be filled with small victories, laughs, and medical advancements.

In the end, please be considerate of the information communicated about Maddie and if you hear misinformation, please correct it. It is best for your kids and for ours. Thanks.

Matt Crowley

Thursday, January 7, 2010

With a Little Help From My Friends

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 Clinical Research, Lynda Phillips our Case Manager, and David the local rep. Beyond that is a small group of patients and parents including two teenagers in Southern New Jersey who receive their enzyme replacement therapy (ERT) at CHOP. Yes, Donna already has the mom’s home and cell phone numbers!

Whew! Now that we’ve covered the team, here’s the latest on Maddie’s diagnosis and the path forward.

In the opinion of the doctors, Maddie has the late-onset form of Pompe. They said if it weren’t for Maddie’s hair loss and resulting blood panels she probably would not have been diagnosed until she was between 19 – 25 years old. Fortunately for us, our pediatricians were aggressive and we found it early. That’s good news!!

Livija then gave us a crash course in genetics and explained that Maddie has one gene producing no enzymes (null gene) and one gene producing abnormal enzymes. The second is still working, but at a limited scale. So how did she get this? Well there are three options. Option one is I gave her the null gene and Donna gave her the gene producing abnormal enzyme. Option two is the opposite. Option three is one of us gave her the null gene and she had her own genetic mutation occur causing the abnormal enzyme production. However, option three is very unlikely. If Maddie (or anyone) has a null gene, but a normal gene producing enzymes it is fine as you only need a percentage of the enzyme on a daily basis. Confused yet? Imagine sitting there and talking about exxons, introns, and frameshifts without an afternoon coffee.

So, Donna and I gave blood and will have our own genetic tests run to see who gave Maddie which genes. We will have the results in 3-4 weeks. An interesting side note is the potential family connection with John F. Crowley portrayed in the Extraordinary Measures movie coming out on January 22nd. His two children have the Infantile version of Pompe which is much more severe as their genes produce no enzymes. If I am related to him, my test results will need to show a null enzyme, meaning that one is producing nothing while one is perfectly normal. If not, we are not related.

There are three treatment options. The first is Myozyme from Genzyme which is an Enzyme Replacement Therapy (ERT) and the only FDA approved therapy for Pompe. The second is the clinical trial being run by Dr. Byrne at University of Florida using a mix of Myozyme and “chaperones” from Amicus Therapeutics (John F. Crowley’s company). The third is gene therapy, also at UofF. Dr. Bonnemann said ERT is the “gold standard” today and his recommendation. The other two are in early phases. In addition to these there are companies such as Zystor who are working on new therapies of Pompe while Genzyme looks to optimize the existing one.

Maddie will begin Myozyme treatments in a couple months once the planning and insurance processes are complete. Dr. Bonnemann said she could start as late as Summer, but we prefer to get the process moving. The ERT treatment will be given at CHOP’s outpatient center one day every other week for one year. For approximately the first 6 – 9 months the treatments will take 8 hours with 1 hour to prep, 5 hours of infusion, and 2 hours of monitoring. In the future, the infusion and monitoring times will be shortened so the process will take 4 hours. After, the first year, Maddie will be able to transition to a home care setting where Myozyme will be administered at the same frequency FOREVER (yes, I did say forever), or until a better therapy is developed.

The side effects of Myozyme appear limited and are mostly infusion related such as chills and fever, but Dr. Finkel has only seen this in about 25% of the patients. The effectiveness of the treatment will be measured by pulmonary (breathing) and muscle (strength) tests at a 3 month then 6 month interval. We also had a long discussion about administration processes, antibody development, etc., but I’ll leave this out to save space. If you want more information, let me know.

The dietician will be investigating a high protein / low carb diet for Maddie and we will also receive information on recommended exercises. In short, a well balanced diet and simple exercises that do not break or damage muscle are acceptable. So, walking, an easy bike ride, and something like dance are great options. The World Weightlifting Championships are not in her future, but then again not in mine either.

The next steps include insurance verification for Myozyme treatments, and a series of tests to develop a baseline. These include an echocardiogram, brain MRI, and pulmonary function test (lying down).

Through the whole appointment Maddie was her usual self, inquisitive, funny and hard working. In the middle, she was discussing the value of her iTouch against the doctor’s iPhone and sharing stories of playing violin.

In the end, we are exhausted, but very pleased with the support and knowledge of our new friends. In the coming years our new friends will become part of our extended family that reaches from California to Pennsylvania. Maddie has a challenging road ahead, but we are confident she can make it with a little help from her friends.

Matt Crowley

Credit to: The Beatles, "With a Little Help From My Friends"