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!
Matt

Credit to: Irving Berlin, "Sisters, Sisters"

21 comments:

  1. Well said, Matt. We are all with you.

    Kath

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  2. You are all amazing in your strength, hope & beliefs. The world awaits you Emma & Maddie. Let nothing slow you down! We love you all.

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  3. You are a master with words, Matt! Together, you and Donna have raised 3 AMAZING kids and they will continue to amaze us all with their strength and "Can do" attitude. They are a reflection of you two so there is NO doubt in my mind that they will all achieve great things in their lives.

    All for two and two for all!!!
    Love you so much,

    Kelley

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  4. You are all so amazing! Matt and Donna, you have taught your kids well and I know Emma and Maddie have the parents they need to show them how to handle this and go far beyond to achieve what they want from their lives. Hang in there, as the genetic counselor said, it's a good day because we have a treatment! Love you all!

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  5. A positive attitude definitely helps achieve a positive outcome. Our hearts go out to you all. You are in our thoughts and prayers. Never underestimate their power.

    Love from the Richard Bennett Bunch

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  6. Dear Miss Maddie and Miss Emma, I don't have a witty phrase or applicable quote. My heart and support is with you both at this time. Dream big always! Let nothing get in your way or stop you.

    Love,
    Miss D.

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  7. Dear Maddie and Emma, you two are such strong girls and have always been an inspiration to me. I think of you often and as always, you remain close to my heart. I am always here for you.

    Love, Mrs. Irrgang

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  8. Dear Maddie, Emma, Carter, Matt and Donna - You are all so special! Know that I am here for you all the way! Love you! Anne Bennett

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  9. Hey Crowleys,
    Just a little, "hello, we love you."
    The Hoffmans
    P.S. You know I love your girls, if I am actually reading and responding to a blog...on a computer!!I am getting the hang of it though...anything for Maddie and Emma!

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  10. We love you Maddie and Emma. In our prayers today and always! The Schoonmakers

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  11. The girl's name Emma \e(m)-

    ma\ is pronounced EM-ah. It is of Old French and Old German origin, and its meaning is "entire, universal". Originally a short form of German names such as Ermintrude. A royal name in medieval England. Emma Peel was a charcter in the 1960s British TV series "The Avengers". Literary: title character of the Jane Austen romance novel "Emma".

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  12. I don't believe an accident of birth makes people sisters or brothers. It makes them siblings, gives them mutuality of parentage. Sisterhood and brotherhood is a condition people have to work at. ~Maya Angelou

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  13. In regards to if today is a good day....

    Write on your heart that every day is the best day of the year.
    -Ralph Waldo Emerson

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  14. Emma:

    When a dog runs at you, whistle for him.
    -Henry David Thoreau

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  15. Matt,
    You are a good man...

    He opened the jar of pickles when no one else could. He was the only one in the house who wasn't afraid to into the basement by himself. He cut himself shaving, but no one kissed it or got excited about it. It was understood when it rained, he got the car and brought it around to the door. When anyone was sick, he went out to get the prescription filled. He took lots of pictures ... but he was never in them.
    -- Erma Bombeck

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  16. Crowleys: You have double our support and prayers. May God give Emma, Maddie and all of you strength to endure and to hope. Love, The Williams

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  17. Sisters annoy, interfere, criticize. Indulge in monumental sulks, in huffs, in snide remarks. Borrow. Break. Monopolize the bathroom. Are always underfoot. But if catastrophe should strike, sisters are there. Defending you against all comers. ~Pam Brown

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  18. Dear Crowleys, Our thoughts and hearts are with you. We love you guys, Jen, Dave, Cody and Cam

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  19. Things turn out best for the people who make the best of the way things turn out.
    - John Wooden

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  20. She is your mirror, shining back at you with a world of possibilities. She is your witness, who sees you at your worst and best, and loves you anyway. She is your partner in crime, your midnight companion, someone who knows when you are smiling, even in the dark. She is your teacher, your defense attorney, your personal press agent, even your shrink. Some days, she's the reason you wish you were an only child.

    Barbara Alpert

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  21. Pompe tries to slow us down , but it can’t stop us. Especially if we stick together , share information and continue to encourage one another. I was just officially diagnosed with Pompe about a month ago and don’t receive my first infusion for another 2 weeks, but I have been experiencing symptoms for years - that didn’t stop me from traveling and living in abroad and Pompe shouldn’t stop Emma either if that is what she wants, especially now that she has her doctor’s blessing. Before I had a name for mystery disease, I spent my junior year of college as an exchange student in England, went to grad school in Wales, and spent a year in China opening a resort for my employer. I traveled so much that I had to go to the Consulate in Hong Kong to have more pages put in my passport - seriously! So with no diagnosis, no treatment, but I was still experiencing symptoms, and I could do all this, just imagine what Emma can do with her team of specialists and her family in her corner!

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