The nurse called me yesterday and explained that our doc and the Alabama doc both suggested that Alex have an MRI of his calves, thighs, and pelvis. They want to see if he's having fatty replacement in the muscle tissue. I asked if they're working toward the same diagnosis as before and after consulting with the doc, she said that they are indeed still thinking that it's congenital muscular dystrophy.
 


They said that I should remember that 40-60% of patients never get a "positive" gene study, so we can't rely on genetic confirmation to make a diagnosis.

After the MRI, we'll decide what step to take next. It'll likely involve more blood work and genetic studies but I'm glad that the neurologist wants to get to the bottom of it.

So we're waiting for the central scheduling folks to call us to get the MRI on the calendar and we'll move forward from there.

Thank you ALL for being so kind and encouraging. It really does help and it certainly helps me continue seeing this glass as half-full.
 

 
My thoughts and prayers are with you. Hopefully you will be able to move forward with a plan soon. Good luck with the next round of tests.

 
Thinking of you and Alex.

Well, while it's not great news at least having a diagnosis means that it will have a treatment. Thats always something to be glad about. ( I sound like Pollyanna). Still sending prayers for you all Deanna.

Many thoughts & prayers from me as well.