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"


  1. No birth certificate is issued when a friendship is born. There is nothing tangible. There is just a feeling that your life is different and that your capacity to love and care has miraculously been enlarged without any effort on your part. It’s like having a tiny apartment and somebody moves in with you, but instead of becoming cramped and crowded, the space expands, and you discover rooms you never knew you had until your friend moved in with you. --Steve Tesich

  2. Wow,what a day! Looking forward to seeing you soon Maddie :). Karen Simpson

  3. Thanks for such a detailed update, Matt and Donna! The only people on her team you forgot to mention are yourselves! I know that Maddie has the parents she needs to support her through this and together with everyone else, Maddie will handle what comes her way! Go Team Maddie!

  4. Wow. Big day. XOX

  5. Thanks for the update Matt and Donna. Your positive attitude will help get you and your family thru this.

  6. Henri Nouwen:
    When we honestly ask ourselves which person in our lives means the most us, we often find that it is those who, instead of giving much advice, solutions, or cures, have chosen rather to share our pain and touch our wounds with a gentle and tender hand. The friend who can be silent with us in a moment of despair or confusion, who can stay with us in an hour of grief and bereavement, who can tolerate not knowing, not curing, not healing and face with us the reality of our powerlessness, that is a friend who cares.

    We are thinking about you today.

  7. I can just see Maddie talking with the Doc's and all around.... She will teach us all something that is for sure. Get ready world.... Very happy to hear (no doubt) on great support coupled with knowledge, things move in a possitive direction ....never worry on this now. I will leave with this...... No matter what in life we are given it is up to us to make the best of any situation for if you believe in God he will always show us the way..... Love to all cyndee weaver

  8. CHOP is an unbelievable place with unbelievable teams of doctors, nurses, etc. There is no better hospital... trust me... I know first hand! Sounds like there's a plan in place, so hold on tight as your ride begins:) I am here to help you through the ride no matter how smooth or bumpy it may be.
    Linda Farren

  9. Wow, what a day! Are prayers and thoughts will be with you the whole way. Thanks for the update and educating us all on this disease! We know first hand how a team of Doctors can become instant family forever!

  10. Howard Schultz, CEO Starbucks Coffee, Pour Your Heart Into It
    Care more than others think wise.
    Risk more than others think safe.
    Dream more than others think practical.
    Expect more than others think possible.

  11. Maddie,
    Wow, you have a long road ahead, but we know you will do fine. You have the strength,humor and the support of great family and friends to help you.
    Hang in.
    Love, The Barr Family

  12. We are with you guys -- praying and hoping always. We would be happy to help drive to/from treatments or hold down the home front while you are at CHOP. Just say the word. Love to all. The Williams

  13. Three Rules of Work: 1. Out of clutter, find simplicity. 2. From discord, find harmony.
    3. In the middle of difficulty lies opportunity.
    -Albert Einstein

    Now get to work !

  14. Thanks Matt and Donna for this update. I can't imagine how hard it is for your family to absorb all of this information about your daughter. From all of the comments, it sounds like you -- and Maddie -- will manage with grace and aplomb, and my prayers are with you. I look forward to following your journey.
    (your cousin)

  15. Thank you for creating this blog. I was just diagnosed with adult onset Pompe and it has been difficult, if not impossible to find informaiton about the infusion treatments online. Your blog has provided me with a lot of information I have not been able to find anywhere else. Thank you and best of luck to you and your family as you continue with your Pompe journey.