Friday, July 9, 2010

Help from The Gators

Help, I need somebody,
Help, not just anybody,
Help, you know I need someone,
Help!

When I was younger, so much younger than today,
I never needed anybody's help in any way.
But now these days are gone, I'm not so self assured,
Now I find I've changed my mind and opened up the doors.

Help me if you can, I'm feeling down
And I do appreciate you being round.
Help me, get my feet back on the ground,
Won't you please, please help me?


I've held this song in the background waiting for the right post because it carries a special message. It speaks of the realization of vulnerability and the willingness to open oneself for help. When you realize "my life has changed in oh so many ways", it's OK to "know that I just need you like, I've never done before." Thankfully for our family, many angels are here to help. This is the story of one great group of people.

Last week we met with Dr. Barry Byrne and his research team at University of Florida in Gainesville. We began our relationship with Dr. Byrne soon after Maddie's diagnosis due to his leading position in the Pompe "world" and research into new therapies. After a series of discussions we agreed to sign Emma and Maddie up for research programs which will determine their enzyme activity, levels of glycogen in their muscles, immune response to treatments, and follow the success of treatments.

We arrived into Gainesville the day before our appointments with Dr. Byrne to get settled and to meet up with a fellow Pompe traveler. Monique lives in the Orlando area and is also fighting adult onset Pompe with the help of Dr. Byrne. We were lucky enough to be introduced via this blog and Facebook and have been planning a meeting for some time. We spent three hours with Monique and her father at Bonefish talking about life, Pompe, and Disney World. She is an inspiration. More details and photos can be found at her blog http://purplelv93.wordpress.com/2010/06/.

Day one at U of F started with introductions to Kate the Geneticist, Lindsey the RN, Lee Ann the Nurse Practioner, and Dr. Byrne. This was followed by a series of questions about the girls' medical history, challenges, understanding of Pompe, and of the existing treatment. We then spoke about new therapies in development at different companies and Dr. Byrne's research into gene therapy. Today Myozyme / Lumizyme remains the gold standard of treatment and will be followed until something new and improved is developed. Next came a lunch with everyone in Dr. Byrne's lab. It was inspiring to see that nearly twenty people from high school interns to long time Ph.D.'s were focusing their professional efforts on Pompe. We enjoyed a few questions from both sides and had an enjoyable lunch with a few laughs tied into the serious business of the day. I thanked them for their "Help!", but do not know if they will ever truly understand what their efforts mean to all the patients and families.

We then moved downstairs to Donovan's physical therapy lab for strength tests, walk tests, stability tests, etc., etc. While this may sound incredibly boring, fortunately Donovan has Jim Carrey's sense of humor and energy. Sometimes laughter is the best medicine. Finally the girls got to do their favorite thing - pulmonary testing. Test after test were performed challenging their breathing capacity standing, sitting, and lying down. This was to note any concerns and to determine a baseline for the future. To give you a flavor of the fun, the doctor described one test as "sucking on a cement milk shake". Yummy!

At the end of day one we were exhausted and all we could think of was crashing back at the hotel. However, Dr. Byrne had another idea. He suggested we eat dinner and then meet him back at the school for a tour of The Swamp - the field where the Florida Gators football team play - followed by dessert. Deal! True to his word, Dr. Byrne met us in the rain, umbrellas in hand and lead us on a tour of the stadium which culminated with stepping over a wall here, through a gate there, and a tour ON the field. What a thrill! Suddenly, Maddie decided it was time for a touchdown and off she went. The girl who had trouble gaining the energy to complete tests earlier that day ran like a running back 100 yards and back. The touchdown dance was impressive! We then shared dessert and talked about Pompe, life, family and future opportunities.

Day two started a bit earlier in the MRI lab where each girl received a MRI of the heart and another to determine the level of glycogen in their muscles tissue. The latter is part of new research which the doctor hopes will one day limit the need for invasive biopsies. Each girl spent a couple hours in the MRI machine. It was great to share the time with Sean (aka Mr. MRI or Magnet Man) and Kate who kept us informed of their progress and chatted it up. Sean and Carter had quite the discussion regarding the video game Call of Duty. We closed out the day with blood samples and a skin biopsy for Emma followed by heartfelt thanks and hugs. We will now return each year for five years until the completion of the research studies.

The trip was a success. It was great to meet everyone in Florida, add more members to our Pompe family, and take part in research that will help the girls and many others in the future. Unfortunately, there continues to be more patients diagnosed with Pompe each year. I am glad that there are the Dr. Byrnes of the world to answer the phone when someone realizes...

And now my life has changed in oh so many ways,
My independence seems to vanish in the haze.
But every now and then I feel so insecure,
I know that I just need you like, I've never done before.


Thanks for the Help!
The Crowleys

Credit to: The Beatles, "Help"

Here are some photos from our visit.

Emma, Monique, and Maddie

Carter, Maddie, and Emma in The Swamp

Doing the "Gator Chomp"

Touchdown!

Maddie, Dr. Byrne, and Emma