Jan 5, 2011

1st genetics visit

I know I'm doing things a bit out of order but on Monday we took Manny to the Genetics department at University of South Florida.  We saw the head of the Department.  The Neurologists have been scratching their heads so they figured it was time to get a different way of coming at his diagnosis/prognosis. 

The genetics counselor came in and needed biological family history.  Of which I have basically NONE.  And what I do have is third hand information, given to us via a translator.  It's also given by a very young girl who was very scared (of being deported).  So it's sketchy at best.  So family history is truly not helpful. 

In came in some doctors.  It's a teaching hospital (which I love).  So Dr. Emilio, the guy further along in his medical program is doing the physical exam out loud for the lady doctor who is not as far along in her program.  I had to keep several giggles in as I seemed to know a LOT more about a lot of things than she did.  (Guess that's what 6 kids with special needs will do for you.) 

One really cool thing is that Dr. Emilio is from Guatemala (just like Manny's birthparents).  And so he was able to shed some light on his particular "look".  Several doctors have suggested he be tested for Down Syndrome because of the look of his eyes (even though he doesn't have the rest of the facial features).  And Dr. Emilio said that Manny is Mayan.  That they have these distinct eyes and that he could tell when he walked in that Manny was from a particular region of Guatemala. 

The rest of the exam was pretty unremarkable.  They found a few things that were "abnormal".  All things we've noted before.  Except he commented that his left nipple is further from center than the right.  I'd never noticed that before. 

Eventually they left and consulted with Dr. Ranells (Head of the Department).  They poured over the notes I'd given them, the history I told them, the doctor records we'd faxed them.  Eventually Dr. R. came in with the team.  She was very intrigued.  She did her own physical exam. 

She said she'd already been on the phone with a fellow Geneticist.  They were scratching their heads too. 

Why?  Because due to his MRI, his blood tests, everything ... this baby should be regressing.  He's not.  He should be completely mentally deficient.  He's not.  He should be losing skills (like swallowing, breathing, etc.) but he's not (he's stronger now than ever like he hasn't needed oxygen in MONTHS). 

She asked for clarification about his cognitive skills and I told her my background and my mother's background and that we assessed him at LEAST at 100 (average) IQ.  (We suspect higher.)  I got him to do some of his "tricks".  But the one that caught her attention was how Manny was flirting with the young female doctor.  Never the guy.  Never the older lady.  Always her.  Dr. R. pointed that out and the young doc blushed.  (Pretty cute and funny.) 

She said, "What do his neurologists say about him having normal cognitive ability?"  I told her they use the word Miraculous!  They can't explain it. 

She said that this was a particularly intriguing case.  She's never seen it.  She had some thoughts and ran a few blood tests but she was most interested in the repeat MRI (Thursday we're doing that).  And the muscle biopsy (not scheduled yet). 

"So the good news is that he's progressing and is cognitively on level."  she said.  I added, "Even with that strange MRI you saw."  she says, "Not strange MRI, SCARY MRI." 

And there's the bottom line.  From all the tests, this baby should not be surviving.  And yet he is.  He's thriving.  Thank You Jesus! 

We're so anxious to see MRI part 2.  Thursday morning at 9:30 the test is done.  I'm hoping to have results by Friday morning or it will be a long weekend wondering.  I'm so anxious to see if God healed just the symptoms or healed the brain itself.  Either way it should make for an interesting day.


  1. I will be waiting with you for test results! No matter what they reveal, God has been seen in Manny since the beginning.