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"