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"