Neuromuscular Clinic

This morning we headed for our first follow-up appointment with Andrew's Neurologist since receiving his diagnosis of Duchenne Muscular Dystrophy.  We will continue these appointments every six months to stay informed and keep on top of Andrew's progress.

Andrew did very well with all of the testing and cooperated with everything asked of him.  He was so inquisitive of the instruments used to test his different muscles and measure his strength.  Andrew shows signs of growth and is still getting stronger on his own :)  They call this the "honeymoon" phase of the disease in which Andrew continues to make progress without any intervention.  Unfortunately, this won't last forever and he will eventually start to regress.  Steroids are commonly used to help keep him as strong as possible and prolong him from having to use adaptive equipment to walk and stay mobile. 

Steve and I were preparing ourselves to discuss the start of using steroids for Andrew.  We have done a ton of research and are petrified of the side effects, but know they will help Andrew in the long run.  We are thankful we haven't reached this point just yet.

We were able to talk more to the doctor about Andrew's specific genetic make-up of the disease.  Andrew has a duplicate Exon 11.  Some good news...studies show that there are less neurological issues in the lower range of the exons.  Some boys with Duchenne have cognitive and behavioral problems and that is not a concern for Andrew at this time.  Also a duplicate exon sometimes could mean that there is still some dystrophin present, but the protein is still leaking and cannot be repaired.  But some dystrophin is better than none.  The only way we can definitely know this is for Andrew to undergo a muscle biopsy.  There is no rush or urgency for this procedure, but one we know Andrew will have to have in the near future. 

Steve and I walked out of this appointment in much better condition than in February, but know it's just a matter of time that this horrible disease starts to affect Andrew even more severely.  We take one day at a time and are just enjoying the present.  We continue to pray for a miracle and for our little boy to be mobile as long as possible.