Saturday, February 27, 2010

Welcome to Holland

Thanks to Facebook and some Pompe email lists, we have met many people who are living the same life we are.  Some have passed these steps years ago while others are just beginning.  Anyways, a new friend sent me the following story which I thought you might enjoy.  This isn't about us or Pompe.  It has a message for everyone who's sharing this adventure with us or have landed in an unexpected place in life.

by: Emily Perl Kingsley.
c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Last October, when Maddie was recovering from her muscle and liver biopsies and before we heard the word Pompe, Donna and Maddie worked outside planting bulbs in anticipation of Spring.  Now, those of us on the East Coast will have to wait a bit longer for the snow to melt and the flowers to arrive, but I have a feeling we will watch with extra anticipation for those Holland tulips to grow.  While we may have taken them for granted before, I'm sure they will be even more beautiful this year.

Enjoy the weekend,

Sunday, February 21, 2010

Then You Begin To Make It Better

Hey Jude, don't make it bad
Take a sad song and make it better
Remember to let her under your skin
Then you begin to make it better

According to Webster's Dictionary...
Take (as in take a sad song...): to get into one's hands or into one's possession, power, or control

Better (as in to make it better): improved in health or mental attitude

Then you begin to make it better

This line from The Beatles' song "Hey Jude" was Emma's Facebook post three days after finding out that she, like her sister Maddie, has Pompe disease.  Donna and I were still trying to put one foot in front of the other and Emma was ready to fight .  I shouldn't have been surprised by her strength and conviction, but reading the post still brought tears of joy.

It is now just over one week since the diagnosis and Emma is digging into her new diet and exercise routine while pushing me to get her on a spot on the Patient Advisory Board at Amicus Therapeutics.  She wants to take charge of the situation and be an active member of the Pompe community.  Grandpa Crowley would be proud! 

So what's happend in the last week?  The girls have completed their Pulmonary Function Tests (just relax and breathe!) at CHOP and we've scheduled Emma's cardiology and MRI tests.  I doubt we'll see Mr. Funky Town at the MRI again, but perhaps a new story awaits.  Through our doctor at CHOP, we have also been in contact with Dr. Barry Byrne at the University of Florida regarding a potential clinical trial with Myozyme + pharmacological chaperones from Amicus Therapeutics.  We should know more in a couple weeks and then decide which direction we want treatment to go.  In other words, just another quiet week at the Crowley house. 

While the recent days and weeks have not been easy, Donna and I remain very fortunate to have three lovely kids who are ready to take the reality of today and fight.  Then we'll begin to make it better.

All the best,
Matt and Donna

Credit to: The Beatles, "Hey Jude"

Sunday, February 14, 2010

Sisters, Sisters

Sisters, Sisters
There were never such devoted sisters

Never had to have a chaperone "No, sir"
I'm there to keep my eye on her

Caring, Sharing
Every little thing that we are wearing

All kinds of weather
We stick together
The same in the rain or sun
Two diff'rent faces
But in tight places
We think and we act as one

Those who've Seen us
Know that not a thing could come between us

On Wednesday, February 10th I received a call from the genetic counselor at CHOP with the sibling test results. She started by saying, "Well, Carter's CK enzyme levels are within the normal range at 80. However, Emma's are..." I stopped her there before she could say it and told her, "That's not the way you're supposed to say it. You're supposed to say... good news, everything is normal." But that was not the message. Emma's CK enzyme levels were at 796, very similar to Maddie's. Emma has Pompe also.

Friday morning we were already at CHOP with Emma in a classic "haven't we been here before moment". The doctor, genetic counselor, dietician, physical therapist, muscle ultrasound, running tests, strength tests, blood tests, etc. seemed all to similar. By the end of the four hour appointment, the doctor confirmed that Emma had similar distal muscle weakness as Maddie, but with a little more weakness in her arm and shoulder muscles. The combination of the strength testing, ultrasound results, elevated CK enzymes, and genetic connection to Maddie confirmed the diagnosis of Juvenile Pompe disease. As with Maddie, Emma has not shown any real symptoms of the disease so we believe we have caught it early.

So what's the good news? First off, the sisters will likely get their own hospital room for the Myozyme enzyme replacement IV treatments. More importantly, the doctor and genetic counselor told Emma she should not adjust any of her dreams because of Pompe. She should pursue any area of study she wants and maintain her desires to go away to school and even travel. Our doctor has friends all over the world so as long as she travels to Europe, Australia, and Japan; he can set up treatments whenever and wherever she needs them. Although it may sound insignificant, this message of freedom made Emma happy.

At the end of the appointment I asked them if they ever have a good day. Our genetic counselor said, "Yes, today is a good day. It is a good day because we have a treatment." Pompe is the only muscle disease with a treatment. Our doctor said the other 90% of what they see each day must be managed with close monitoring and a hope that science will one day present a solution. With that positive note we left CHOP, soon to return so Emma could repeat the tests Maddie has gone through.

So while we remain on the Pompe adventure, the road has just expanded to fit two with many more walking behind and supporting each and every step.  While our travels will not be easy, we still believe the wind will always be at our backs and the sun will shine warm upon our faces.

All for two and two for all!

Credit to: Irving Berlin, "Sisters, Sisters"

Saturday, February 6, 2010

You've Got A Friend In Me

You've got a friend in me,
You got a friend in me.
When the road looks rough ahead,
And you're miles and you're miles from your nice warm bed.
You just remember what your old pal said,
Hon, you've got a friend in me!
Yeah, you've got a friend in me!

Who do you think of when I say the word "friendship"?
- Abbott and Costello, Batman and Robin, Bert and Ernie, Cheech and Chong, Gumby and Pokey, Barbie and Ken, Lenny and Squiggy, Oscar and Felix, Spongebob and Patrick, or Starsky and Hutch?
Perhaps it's her easy going attitude, fun loving spirit, or ease in connecting with others.  Whichever it is, Maddie is one of those kids who seems to make friends easily.  She is also one of the fortunate few to have friends she can confide in and share the strong friendships at her age when life is still innocent and filled with wonder.

This week she was blessed to add a new friend to the list.  A friend who she wasn't expecting and one with whom she shares a unique experience.  Thanks to the great folks at CHOP, Maddie was introduced to a girl her age in this area who also has juvenile / adult-onset Pompe.  Her new friend's name is Abby.  Her Pompe is also early stage, but she is three years ahead on the treatment experience.

We were pleased to hear from Abby's Mom that she was thrilled to get in touch with Maddie because she had not met any other girls her age with juvenile Pompe.  We are very excited for Maddie as the adventure with her new friend begins and that we can add Maddie and Abby to the definition of "friendship".  

And as the years go by,
our friendship will never die
You're gonna see
It's our destiny
You've got a friend in me

Here's to friends!

Credit to: Randy Newman, "You've Got A Friend In Me"

Monday, February 1, 2010

He Ain't Heavy, He Ain't My Brother

The road is long
With many a winding turn
He ain't heavy, he ain't my brother

CHOP called today with our genetic test results. I felt like a first time mother waiting for the doctor to call with the big news. After all, we have The Crowley Pompe Connection going. We share the very rare "null gene" that produces no enzyme and according to Genzyme we belong to a very elite club. What a story to tell the grandkids!

But, then the genetic counselor said those words, "Well, you are not related to the other Crowleys!". What? How can this be? All my life I've considered myself a bit of a mutant. But, NO, Donna has to take center stage again and have the "null gene". All I am left with is an intronic splice at the sixth position. I mean come on!

So, I picked up my pride and listened on. The tests confirmed Maddie did receive one defective gene from each of us as expected. What's next? Now Carter and Emma will be examined and tested to see if they are carriers. This will come in the next few weeks.

And the load
Doesn't weigh me down at all
He ain't heavy he ain't my brother

Thanks for checking in with us,

Credit to: The Hollies, "He Ain't Heavy, He's My Brother"

Manicotti with a side of Myozyme

Last Thursday, Donna and I had lunch with more of our extended Genzyme family.  Sarah is in their Personalized Genetic Health team working with the area doctors.  Constance is an RN and Patient Care Liason who works as an trainer and advisor to doctors and home care companies when they set up IV therapy.  She will be at our house when Maddie begins her home infusion - - in 2011.

Before the waitress took our drink orders we learned that we know more about Pompe than we expected.  However, there is much to learn.  For example, the US has only a few hundred Pompe patients so when they say rare, they mean rare!  Several times Constance reminded us that we are in a very elite club because Maddie has one gene producing no enzyme and one producing only a little.  I wanted to reply with my favorite Groucho Marx quote, "I don't want to belong to any club that will accept me as a member", but I contained myself and just smiled.

We were pleased to hear that there are several companies, including Genzyme, that are developing improved therapies for Pompe which we hope Maddie can benefit from.  We also learned CHOP has the only Glycogen Storage Disease Center in the country lead by a number of specialists we have yet to meet.  (Pompe is one of 5 GSDs.)  Also, CHOP is considered the leading hosptial in the US for Pompe.  OK, maybe we can take the cold weather and another season of Donovan McNabb

Bon App├ętit ,