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Showing posts from February, 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. WELCOME TO HOLLAND 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

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

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

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

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 s

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 com