Big Update: I spoke with John’s Hopkins today



I spoke with someone from the A-T Clinic as John’s Hopkins in Maryland this afternoon.  I learned even more information than I had before. 

Her gut says that based on what I was explaining to her, she would guess that it was not ataxia-telangiectasia.  Basically the reasoning for that is because typically, the symptoms begin at a much earlier age.

Having said that, it could also be that Gavin is just so complex that there are overlapping and unrelated symptoms going on.  This sorta mucks up the water and makes things more difficult to sort out. 

However, we do know the next step and that’s finding out if Gavin has had a AFP (alpha-fetoprotein) test and if so, what his levels were.



image

This is Gavin’s Heart Rate Monitor Watch

I have a call into the Cleveland Clinic and Akron Children’s Hospital to find out if this was ever done..

This is basically an exclusionary symptom. 



If his levels are normal, than its almost certain that he doesn’t have A-T.  If the levels are elevated or even borderline, we will have to proceed with the next step, whatever that may be. 

The nurse explained they believe that there are approximately 600 people in the US with Ataxia-telangiectasia and they have seen over 400 of them come through their clinic.  They have never had a child come through with normal AFP levels and have Ataxia-telangiectasia.

At this point, I have to wait to hear back from Cleveland and Akron.

I hate waiting, especially for things like this.  However, we’ve been waiting a decade and so another day or so wait for information that can alter the course of our current journey with Gavin, doesn’t seem to bad. 

We just really need these levels to be normal……


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About Rob Gorski

Father to 3 with Autism and husband to my best friend. Oh...and creator fo this blog. :-)

  

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Praying for normal levels! I understand hating waiting… I’m the most impatient person ever, especially with things like this. Those folks at John Hopkins are some of the best I hear, so let’s hope they can help Gavin’s journey 🙂