Friday, April 30, 2010

Good Day Sunshine

Good day sunshine
Good day sunshine
Good day sunshine

I need to laugh, and when the sun is out
I've got something I can laugh about
I feel good, in a special way
I'm in love and it's a sunny day

Good day sunshine
Good day sunshine
Good day sunshine

Waking up to a sunny day should have been the first indication that the girls' treatment was going to be ok.  You see we have had a cool spring this year with only the occassional warm, sunny day and this day looked to be a good one.  We woke the kids up early with the goal to reach CHOP by 10.  I worried the girls might be a bit hesitant, but I quickly realized this would not be a concern when Maddie screamed out a "Yeah!" when I told her it was the day for the first treatment.  I don't think Genzyme needs to make commercials for Myozyme, but if they do I have a spokesperson in mind.

On the way down the PA Turnpike we received a call from the Day Medicine nurse making sure the "Crowley girls were on their way".  Apparently they had to make sure we were coming before mixing up the medicine.  Someone in their pharmacy (and accounting department) feels it is best to do this before mixing up $15,000 worth of medicine.  We had to laugh because at some point it all sounds like Monopoly money. 

We arrived a bit early at the hospital and were met with a warm hello from the Day Medicine staff.  We were immediately whisked off to a corner room and the royal treatment began.  Kate, the Child Life Specialist, took time to talk with them about their concerns about treatment, take funny photos for their CHOP scrapbook, and began a relationship that is sure to last for many years.  We then met the nurses who quickly started the I.V. lines after taking several blood samples.  Within 30 minutes Emma and Maddie were hooked up to their I.V. poles with the magical Myozyme drug and the drip began.  What seemed to be so normal for the nurses was a sudden indication for us that the girls had taken the fork in the road toward a better future.

Over the next several hours we were visited by several people that kept the time passing quickly.  First there was David O'Connor who is Genzyme's specialist supporting CHOP, an ordained Deacon, and a peaceful man who we now consider a friend.  He fully embraced Wacky Wednesday by showing up wearing a tux with a questionable tie and cumberbom matched with worn tennis shoes.  Second there was Irene who will be our main contact for all things at CHOP.  Third there were the various nurses including Jackie with her reindeer antlers. And finally Dr. Bonnemann and Livija, the masterminds that got us to where we are today.  These two will have my never ending respect and appreciation. 

The girls passed the time in the craft room, playing games, reading and napping all the time wearing their princess tiarras.  When Maddie was first diagnosed Donna told her she was a Pompe Princess and the name stuck.  Donna visited, texted several people, and was able to connect to Facebook in order to send some updates and see what was happening in the world.  I checked some emails, did some food runs with Carter, checked with the girls over and over, and watched the medicine drip by drip.

Six hours later we were packing up and heading out the door with a pleasant "see you next time" departure.  So strange, yet so perfect.  When I look back I am left with an overwhelming feeling of pride at two girls who took on the day with joy, strength, and courage.  While they had every reason to be afraid and concerned, they chose a different path.  A path which made the day easier for their brother, mother and father and by which they've clearly explained that they will not take this diagnosis lying down.  These two are fighters with a strength which continues to inspire me.

Keep fighting my darlings.  Despite some tough roads ahead I know you will be victorious against Pompe.  Bring on the good days and bring on the sunshine!

All for two and two for all!
Matt

Good day sunshine
Good day sunshine
Good day sunshine

Credit to: The Beatles, "Good Day Sunshine"

Here are a few pictures of our Wacky Wednesday.  Enjoy.


Maddie ready to go!


Emma hooked up to the magic meds.


David O'Connor and Irene.  Love the wacky bow tie!


Dr. Bonnemann and Livija Medne.  Thank you!


Nurse Jackie and the girls.


One day down....

Monday, April 26, 2010

Wacky Wednesdays

WACKY: absurdly or amusingly eccentric or irrational.

Here we are two nights away from the girls' first Myozyme treatment on Wednesday, April 28th.  From now on they will receive treatments every other week...forever.  Yes, that's forever with a capital F or as my Latin speaking friends would say "ad infinitum". 

While we are tentative to take this next step; we are looking forward to what awaits us.  You see CHOP has developed creative ways to make their Day Medicine clinic (where the treatments will be held) a positive and fun environment.  There is Musical Monday, Tiara Thursday, and for us Wacky Wednesday.  So starting this Wednesday we plan to have the girls wear, share, act, sing, watch or just generally do something wacky during their treatment day to maintain a fun, upbeat spirit.

Now I know a thing or two about being wacky.  In fact, I have been both complimented for being wacky and punished for being wacky.  The latter mostly occurred back at St. Dominic Savio where Sister Superior just didn't seem to care for kids being wacky.  Who knew?  For the record, my bride is not new to wackiness either so our joint experience has provided us with a few ideas.  And fortunately we have our fair share of friends and family who also fall into the wacky category, but for their sake I won't name names.  Those who are smiling now, you know who you are.

So nearly a year after we took Maddie to that first doctor's appointment, five months after her diagnosis, and three months after Emma's diagnosis we are taking that next step in our New Adventure.   While I know we are blessed that there is a treatment which will stabilize the girls' situation, I sit here with butterflies in my stomach and a prayer that somehow I could still take it all away before they feel that first needle prick and the rush of the medicine entering their blood stream. 

I am not sure what our family will feel at that very moment, but am sure there will be a few smiles and a few tears.  I am also sure that somehow we will remember that it is Wednesday and as such, we will find a way to be Wacky.

All the best and many thanks,
Matt

Sunday, April 11, 2010

California Girls

Well East coast girls are hip
I really dig those styles they wear
And the Southern girls with the way they talk
They knock me out when I'm down there

I wish they all could be California
I wish they all could be California
I wish they all could be California girls

They were born in the Golden State.  One in sunny SoCal and the other in foggy NorCal.  Both heard The Beach Boys belting out this classic tune on the way to the beach or to "The City" (aka San Francisco).  They didn't need to wish they could be California girls, it came with the territory.  No one could predict that one day they would be one of those hip East coast girls with the syles they wear or Southern girls with the way they talk, but serendipity placed them on that path.

Dad's work brought them to the East coast, but Pompe unexpectedly connected them to the area like no other.  First to the Children's Hospital of Philadelphia (CHOP) and their wonderful team, to Genzyme and their amazing Myozyme drug, and then to those friends who have stepped up in their moment of need and as such built a lifelong connection.  To those, I am most grateful for their impact is more significant than they know.  The Pompe connection has also brought some surprises that have carried them from the East coast to the South and back to the Golden State.

The East coast...
When we sat in shock receiving Maddie's initial Pompe diagnosis, we were given a phone number of a New Jersey family who's two children also had Pompe and were told to reach out to them for information and support.  We held onto that number for a couple months before we could muscle up the strength to place the call, somewhat concerned what we may learn and where that road might lead us.  But the call was placed and so began our lifelong connection to the Hackenberrys.  The similarities... They have three kids like us.  The eldest and youngest have Pompe with the one in the middle not affected. 

The connection began over several calls, cell phone texts, and Facebook posts.  Then we finally made the drive over the Ben Franklin Bridge into New Jersey which changed our lives.  Immediately we felt at home.  The kids understood each other and the parents shared thoughts and questions few could understand or felt comfortable to discuss.  During the visit, we laughed, told stories, shared concerns, and spoke about the wonderful future ahead through the help of a Genzyme representative.  We left six hours later feeling like we've known each other for years and that this was the first of many gatherings.  We shared more than Pompe.  Their kids shared the dedication to each other that ours have and the parents a commitment to somehow keep moving forward even though the road ahead is foggy.

The South...
During the same period we'd been corresponding with Dr. Barry Byrne who leads the Molecular Genetics and Gene Therapy of Cardiovascular Disease group at the University of Florida.  He is a leading researcher in muscle disease with a particular interest in Pompe.  Our doctors at CHOP recommended we speak with him about the Pompe studies his team is running.  After several phone calls and fantastic support from my sister, we agreed to participate in two studies.  In the first, his team will monitor our girls' Myozyme treatments to better understand its implications in patients with juvenile Pompe.  You see, most studies have been done with infants and a few with adults, but our girls lie in the middle of this unique community.  In the second, CHOP will send a piece of Maddie's skin tissue retained from her biopsy to University of Florida where it will be cultured in the lab to determine the potential immunological responses to Myozyme.  When will they build antibodies?  What will be the impact?  Etc.  This will help predict Maddie and Emma's response to the treatment while also allowing science to build knowlege and help others in the future.  There are more details for both, but that is the jist of it.  So within a month or so one of our California girls will have a piece of herself in Gainesville, Florida making her an honorary Southern girl and Gator fan.

The Golden State...
So have the girls completely left California?  Not at all.  All of our family is there including a few in San Diego and Orange County getting in shape to run a half marathon to honor our girls and raise money for Pompe.  A few more are actively routing Emma and Maddie on each and every day through phone calls, emails, texts and the occassional face to face call via Skype.  Finally, an even larger group are quietly supporting them through their thoughts and prayers. So while they may not physically be soaking up the sun in Newport Beach or enjoying cracked crab with sourdough in Millbrae, their hearts always will be.

For us?  We will go wherever it is best for the girls and our son.  East, West, South, or North.  It no longer matters.  I was born and raised in SoCal and work has taken me throughout the US plus many wonderful places in Europe and beyond.  Despite all the beautiful places I've seen, now anytime I'm away all I can sing is...

I've been all around this great big world
And I've seen all kinds of girls
Yeah, but I couldn't wait to get back in the states
Back to the cutest girls in the world

I wish they all could be California
I wish they all could be California
I wish they all could be California girls

Happy Spring,
Matt

Credit to: The Beach Boys, "California Girls"