Skip to main content

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,
Matt

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

Comments

  1. Lee OuldsFebruary 2, 2010 at 2:29 PM

    You guys just inspire us. Love you.

    ReplyDelete
  2. AnonymousFebruary 2, 2010 at 6:11 PM

    One of my favorite things about the Crowley family is that you all have this uncanny ability to find the humor in everything! Maddie always approaches things with kindness, fairness and a smile. We can all learn a lot from Miss Maddie. Smile on!

    ReplyDelete
  3. AnonymousFebruary 4, 2010 at 4:40 PM

    I believe intronic splice at the sixth position gives one a good sense of humor

    ReplyDelete
  4. AnonymousFebruary 5, 2010 at 4:21 PM

    Good luck to Carter and Emma. I know they are carriers of good looks.

    ReplyDelete

Post a Comment

Popular posts from this blog

The New Adventure

Madeline Jane Crowley is an 11 year old girl living in suburban Philadelphia who was diagnosed with Juvenile Pompe Disease on November 18, 2009. Maddie is a vibrant child filled with humor, energy, and wonder. She believes in her family, friends, doctors, and the magic that can happen when people dare to believe. Her care is being lead by Dr. Bonnemann MD, Asst. Professor of Neurology and Pediatrics, at Children's Hospital of Philadelphia (CHOP), and includes a team consisting of a Genetic Counselor, Physical Therapist, Clinical Trial Specialist, Nutritionist and many others. Maddie will begin treatment with Genzyme's Myozyme drug in January 2010. What this means, we don't know. But we do know that our family and loved ones will support her every step of the way. Whatever happens we will fight for our daughter and will succeed in helping her and many others battling this disease. All for one, and one for all! Sincerely, Matthew and Donna Crowley
31 comments
Read more

July's Forecast...Reduced Snowflakes

The night before we moved from our Northern California home a friend who learned we were moving to the Northeast asked me a question.  "Do you know it snows there, even when you don't want it to?"  I laughed it off speaking instead about the beauty of the Northeast, my new job opportunity, and of course the cheesesteaks.  While I thought it was a humorous question at the time, I must admit I repeat it each winter as I gear up to clear the snow from the driveway.  Seven years after living on the east coast I've realized I have two favorite parts of a winter storm.  The first is watching a heavy snowfall where the snowflakes are so large and distinct you can reach out and touch the magic of winter.  The second is when that last bit of snow is washed away by a gentle spring storm clearing the way for warm, sunny days.  Sure there's all that other "stuff" in winter that's cool too, but when it comes to co...
15 comments
Read more

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...
21 comments
Read more