SamBeller.org

Tuesday, April 12, 2005

Diagnostic Testing Results Coming

We’ve been waiting since November to hear about all the tests ran on Sam to determine if he has another diagnosis besides Cerebral Palsy.  Because he continues to weaken every year, the doctors feel there must be another underlying muscle disease or disorder.  All testing results came back normal… except one.  The muscle biopsy showed a strong possibility for Spinal Muscle Atrophy (SMA).  We now are scheduled to have another blood test done to test for the genes that may confirm this.  We may not know anything until the end of May or June.

Spinal Muscle Atrophy is like a childhood ALS.  The nerves lose function and so the muscles slowly deteriorate because the nerves are not firing properly.  From everything we read about kids with SMA, Sam sounds just like them.  We feel quite certain that the blood test will confirm this diagnosis.  So what would this mean for Sam’s life?  No change.  There is no treatment for SMA.  There are some clinic drug trials that Sam may be able to participate in ... but, we will cross that road when we come to it.  However, a diagnosis of SMA does confirm that Sam is getting worse and will continue to do so.  Kids with SMA usually do not survive past the teen years.  The threat is pneumonia ... just as we have seen with Sam. 

Please pray for wisdom and discernment as we process all this information.  We want to know what is going on in Sam’s body - but it’s hard to tell good news from bad news sometimes.  Also, please pray for the blood test to accurately confirm or deny SMA.  And, as always for faith to raise Sam, Tevah, Jacob and Simone to trust in the Lord in all things.

We will keep you posted.

Much love,
David & Kelly