Sunday, July 18, 2010

You Run Like a Girl

Hello all,
I haven't spoken about fundraising in the blog before because I felt it was more important to focus on our life experiences since the girls' diagnosis. However, a unique opportunity has presented itself from some very special people and I wanted to share it with you.

My nephews and nieces in San Diego are training to run a half marathon on August 15th. All funds will go directly to the AMDA, which is a great organization supporting the Pompe community. Please see my niece Meghan's letter below. If you are able to donate, please consider employer matching funds as a way to boost the impact of your donation. Either way, please keep them in your thoughts and continue to check the blog for updates on their success. Thank you.

All for two and two for all!

Dear Family and Friends,

As most of you know, our two cousins have been diagnosed with Pompe Disease. Maddie and Emma are truly amazing individuals who live each day with joy, laughter, and dreams of what the future holds. Their vivacious character and continual strength through this process has inspired many.

In our search of understanding Pompe and the unexpected in life, we have decided to run forward and help raise money for research and improved therapies. We hope to bring awareness to Pompe Disease and to make a small difference in the lives of those who are diagnosed each year with Pompe. To help our cause, we will be running the San Diego America’s Finest City Half Marathon on August 15th, 2010. Training is in full swing and shirts are being printed for the big day!

Our goal is to raise $5,000 to improve the lives of those affected by this disease. To donate, please follow the link below. This will bring you directly to the AMDA website where the donations link is on the home page. Click on Make a Donation and follow the directions through the Paypal account. In order for the donations to go directly to Pompe Disease and to know how much is being raised, please note on the donation page that your donation is being made in regard to the Half Marathon in San Diego. You can do this by clicking the link named "Add special instructions to merchant". If you are unable to donate and in the San Diego area, please come out and help support our cause at the half marathon! Thank you so much for your constant support, prayers, and love you have shown towards the PA Crowley’s!

All for two and two for all!!
Meghan Crowley
Brendan Crowley
Joey Anderson

AMDA - Acid Maltase Deficiency Association
It is difficult to say what is impossible for the dreams of yesterday are the hopes of today and the reality of tomorrow. - Robert H. Goddard

Friday, July 16, 2010

When I'm Sixty Four

When I get older losing my hair,
Many years from now,
Will you still be sending me a valentine
Birthday greetings bottle of wine?

If I'd been out till quarter to three,
Would you lock the door,
Will you still need me, will you still feed me,
When I'm sixty-four?

Their names were B, Z, D, and E.  I don't recall their real names or if they were my great aunts, third cousin's sisters, or mother's brother's cousin's sisters.  Nor do I remember if they were widows or "old maids" like they used to say.  To a little guy, these details did not matter.  What I do remember is that they were kind and always had stories to tell.

On occassion, my mom would take my brothers and I on the 30 minute drive down Rosecrans and over to Long Beach Blvd. for the type of visit that doesn't happen so much anymore.  You see, these were the days before iPhones, video games, email, Facebook, and - gasp - blogs!  This was when cartoons were only on Saturday mornings, a long distance phone call meant anywhere beyond your local church, and when you knew the mailman by name because you took the time to care.

Most of the time my brothers and I sat with one eye out the front door and one foot in the house hoping for home baked cookies and a bit of milk before we were allowed to escape outside to play.  However, once in a while I would listen to my mother and the sisters talk.  They discussed the latest family updates some of the time, but mostly focused on the past - old friends, family members and experiences. Their gray hair matched the clarity of their stories, partially in focus and partially lost like old photographs fading away in the attic.

B, Z, D, and E have left us now finding their way to a greater peace, a peace which good people deserve.

I haven't thought about them or those days for a long while.  That was until I sat in Day Medicine at CHOP and watched my girls sit and talk with their mother about the day's news, what's happening in their lives, and in the lives of family and friends.  As I listened to the girls in my life chat away, I had to smile.  They were discussing stories and living experiences that these two beautiful girls, who are eternally connected through Pompe, will one day be sharing. 

In no time at all, these two girls will become ladies and will be sitting side by side just like B, Z, D, and E sharing the stories of their own grandmothers, mothers, and maybe even dear old dad.  Their niece will be by their sides chatting up just like my mom once did.  And perhaps their grandson will look on, half waiting for the opportunity to step outside to play (if they still do that then) or eat cookies (they'll always do that).  And one day, that boy will share the stories of two girls who received treatment twice a month and went on to be the best of friends...when he's sixty four.

Live on!

Credit to: The Beatles, "When I'm Sixty Four"

Friday, July 9, 2010

Help from The Gators

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

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

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"


Maddie, Dr. Byrne, and Emma

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,