Sunday, July 4, 2010

July's Forecast...Reduced Snowflakes

The night before we moved from our Northern California home a friend who learned we were moving to the Northeast asked me a question.  "Do you know it snows there, even when you don't want it to?"  I laughed it off speaking instead about the beauty of the Northeast, my new job opportunity, and of course the cheesesteaks. 

While I thought it was a humorous question at the time, I must admit I repeat it each winter as I gear up to clear the snow from the driveway.  Seven years after living on the east coast I've realized I have two favorite parts of a winter storm.  The first is watching a heavy snowfall where the snowflakes are so large and distinct you can reach out and touch the magic of winter.  The second is when that last bit of snow is washed away by a gentle spring storm clearing the way for warm, sunny days.  Sure there's all that other "stuff" in winter that's cool too, but when it comes to cold weather that's where I stand.

So why are we talking about snow in July? 

A few days ago the girls had their six month checkup at CHOP.  This is after five Myozyme treatments and several months of wondering what's next.  As usual Maddie and Emma completed the usual series of physical therapy tests.  Test your strength in this arm, see what your resistance is with your leg, the usual.  But for the first time the results were different.  They were improved!  Yes, test by test, both girls were a bit stronger than last time.  Now, they are not ready to enter any body building competitions, but any improvements in this game is a big deal.

Next, the doctor set up the ultrasound machine to complete muscle ultrasounds of their legs and arms.  Before he began he shared the previous ultrasound photos and explained that when glycogen builds up in muscle fiber, it is similar to snowflakes within the muscle.  A strong dusting of snowflakes equals more glycogen while a black screen shows solid muscle.  The goal was to see no additional buildup.  Surprisingly, there was not only no additional buildup, the treatment was actually removing some of the glycogen!

A rush of excitement encompassed the room!  This was not what any of us expected and was great news!  When Dr. Bonnemann explained that our three phased approach of Myozyme, diet, and exercise seems to be working, Donna and I watched as the concern on the girls' faces was overcome with joy.  All their hard work is paying off.

So what does this mean for the future?  Will we see improvements each six months?  Will each of them see equal results long into the future?  Unfortunately it's not that simple.  No one knows what the future will bring as each Pompe case is unique.  Regardless of the future, reduced snowflakes in July is a cause for celebration.

So while it's true that sometimes in life it snows even when you don't want it to, it's also true that sometimes a gentle spring storm clears the way for warm, sunny days.  

Thanks for keeping us in your thoughts,


  1. Super duper fantastic news! I'm so excited for you guys - way to go Emma and Maddie! Keep up the good fight and keep bringing hope to the Pompe community.

  2. Lee Oulds and FamilyJuly 5, 2010 at 2:38 AM

    Great news guys. We are so happy for you all.

  3. The dictionary defines an ‘ultrasound’ as the energy generated by sound waves of 20,000 or more vibrations per second. Ultrasound utilizes sound waves that are far above the frequency, which the human ear can decipher. Its operation is based on the technology of the transducer emitting sound waves, which penetrate the human body without any risk.
    On entering the body, these waves encounter bones and various internal organs. These high frequency waves are then reflected back from the organs and tissues forming images of internal body parts on a screen of the source. The nature of the reflection enables the physicians to identify the type of tissue.

    I hope that black screens and solid muscle await your next visit.

  4. That is fantastic news! I have been reciving ERT for 6 months now and am starting to notice slight strenght improvments!

  5. This is wonderful news!! Congratulations Maddie and Emma! Keep working hard and getting stronger and stronger! You already have strength of character and support from family and friends! Now, work on those muscles and get rid of that snow! Much love to you all! Miss D.

  6. hello i have a daughter who is fighting pompe she is 20 months old! She is deffenitly a fighter!! Shes getting ert every two weeks and is getting stronger by the day!! I weish you and your family the best of luck...stay strong!

  7. Cynthia ZimmermanJuly 5, 2010 at 2:11 PM

    I am so glad to hear that the girls are doing well. Your family is always in my thoughts.

  8. What fantastic news!!! Stay strong Maddie and Emma!! I can't wait to help celebrate with you and enjoy Wacky Wednesday together! YEAH!!

    Love you both so much! Meg

  9. Such wonderful news...keep up the good fight. We are always thinking of you.
    The Rudolph Family

  10. Awesome! That just fills the future with hope, doesn't it?!

  11. Always in our thoughts and prayers! xo The Scoons

  12. Janette BasingerJuly 6, 2010 at 8:12 PM

    Wow, Matt. You are such a gifted writer...I feel like I am right there witnessing each experience you pen! I am so happy for the great news. You are a blessed family. And we are blessed for knowing each of you. Our love to you all!---the Basinger's of Vacaville

  13. Not exactly "Twas the night before Christmas", but I love the ending so far.

  14. Maddie and Emma are surely as unique as each individual snowflake.
    I want to thank them for their hard work. I am selfish in that I want to see future softball and FBLA exploits.

  15. Winter, Spring, Summer, Fall.

    All you have to do is call.