Monday, February 23, 2015

The Phone Call...


The neurologist called this week. The minute I heard her voice I took a DEEP BREATH!

I knew once she said the results that she couldn't take them back and I couldn't un-hear them. 

Once the words were said then there would be NO TURNING BACK!

She said "Bryan's SMA genetic test showed that he does NOT have type 1, 2, or 3". 

WOW!

WHAT does this mean?!

Has GOD performed a MIRACLE right before our EYES?!

She went onto say that she still thinks Bryan has Distal SMA. 

(Although when we google Distal SMA Bryan doesn't exactly fit the description - which mentions adult onset - but he does seem to be primarily affected in his limbs.) The doctor isn't sure how distal SMA is diagnosed. She also mentioned polio again. He doesn't quite fit the profile for having had polio as his weakness is basically symmetrical and polio usually isn't. Bryan had the polio vaccines in the orphanage so he tests positive for the polio titers. Apparently there is no way to tell the difference between having had polio and having had the vaccines. She also brought up the EMG again - but says she would only consider doing that if it will give us answers. 

We are CHOOSING to PRAISE GOD for this good news!

We suspect that Bryan does have some form of SMA - based on how he presents and other kids we have observed/read about, and that his doctors haven't raised any other strong possibilities. We also PRAY that if that's the case, the SMA he has is not as serious.

It may be a while before we know anything....the neurologist is researching and seeking advice from colleagues. We are still waiting to get an appointment with genetics to get a full genetics screening done. Bryan may or may not need to have an EMG or muscle biopsy. We are hoping to contact the leading SMA doctor to see what we can learn about distal SMA.


Bryan riding in my backpack on a field trip to the Aquarium today. He loved it!


THANK YOU for continuing to pray for Bryan and our family!

Blessings, Sandy

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