Saturday, December 26, 2009

The Long and Winding Road to Diagnosis

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 enzyme (creatine kinase) which is secreted from the muscles, not the liver. This led us to a visit with a muscular neurologist and physical therapist at CHOP where they ran a number of tests, completed a muscle ultrasound, and asked a bevy of questions. In the end we were presented with two options. 1) Have Maddie undergo a muscle and liver biopsy to see what was happening or 2) wait and see. We chose the biopsy and in October 2009 Maddie had a series of firsts, first overnight at CHOP, first time under anesthetic, and first time having McDonald’s “room service”. Yes, they have a 24 hour McDonalds that delivers to the room! 

A few weeks later we learned the liver results came back clean (what a relief), but the CK enzyme issue was still there. So we loaded up and headed for another visit to CHOP, this time to be greeted by the muscular neurologist, a genetic counselor, and a physical therapist. After several questions about Maddie’s birth, early months, our families and heritage, Dr. Bonnemann informed us that Maddie had either something called Pompe Disease or Nonaka Disease. We were told that both were in a family of Inclusion Body Myopathy diseases. The main difference between the two was Pompe had a therapy and Nonaka did not.

So, Maddie underwent another muscle ultrasound and additional blood tests. This time the blood would be sent to Duke University for enzyme level and genetic mutation tests. In November, the enzyme results confirmed the Juvenile Pompe Disease diagnosis. Last week the genetic mutation tests returned and just like Maddie, they are a bit unique. Of the two genes, one is not producing any enzymes and the other is producing only a limited amount.

In January we will be meeting the same group as above plus the top Pompe researcher at CHOP and will be introduced to Maddie's team of specialists. I will share the details on this appointment once completed. In the meantime, there will be no Bowl Games for our “team of specialists”, but I will still be rooting for them. Go TEAM! 

All the best,
Matt Crowley

Credit to: The Beatles, "The Long and Winding Road"


  1. The Milano family will also be rooting for your team! Sending positive thoughts and energy your way.
    Gail and family

  2. Thank you for the explanation! Maddie, you are a wonderful brave girl!

  3. And when the night is cloudy,
    There is still a light that shines on me,
    Shine on until tomorrow, let it be.
    I wake up to the sound of music
    Mother Mary comes to me
    Speaking words of wisdom, let it be.

  4. As you travel this long and winding road, know that family, friends and the love of God are all by your side. We'll be praying for you.

  5. Hey Maddie - I hope you had a wonderful Christmas. Know that we are all out there cheering and praying for you!
    Sandy Lammey (Your old PE teacher!!)

  6. Maddie Jane is in my ears and in my eyes.
    There beneath the blue suburban skies.

    I am thinking of you today.

  7. Hi Maddie,
    You are one strong girl here for a very special purpose. I love this quote. It is one that Mrs. Miramontes uses on her site. I think it sums up our Maddie pretty well!!

    Just think, you’re here not by chance, but by God’s choosing. His hand formed you and made you the person you are. He compares you to no one else – you are one of a kind. You lack for nothing that His Grace can’t give you. He has allowed you to be here at this time in history to fulfill His special purpose for this generation.
    By Roy Lessin

    Go Maddie!
    I love you very much!!
    Mrs. Pollock

  8. Oh Maddie and you dear Crowleys! Now, maybe it will be a chance for all of us to give back to you some of the many gifts you have always bestowed on all of us! You are in my thoughts and prayers as you begin your new journey. I know many, many good things are going to come out of this!
    Love you all very much!
    Bobbi Filiaggi

  9. “The block of granite which is an obstacle in the pathway of the weak, becomes a stepping-stone in the pathway of the strong.” — Thomas Carlyle

  10. Dear Crowleys,
    We will be praying for Maddie and all of your family as you begin this new journey. May you find strength in being surrounded by so much love and support.
    The Dovey family

  11. We are all rooting for you! You are all in our prayers & we are here for you whatever you all need! Love always, The Frosty Family

  12. "We turn to God for help when our foundations are shaking only to learn that it is God shaking them."

  13. Maddie and Family... Our thoughts and prayers are with you as we root you on from the sidelines!

    God Bless!

    The Jewett Family

  14. Dear Maddie,
    You are in my thoughts today and always.:) You be brave and know that you are so loved. Kisses and big hugs..Aunt Tree