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"