Tuesday, July 21, 2015

Trauma, Angelman's or ARIDIB

Or all 3 dx's???  What is Nate's?  Today we went to Duke Genetics for the end all be all genetic testing results.  The one that studies 56,000 genes.  It was his third genetic test.  Took over six months to read this one.  We were not expecting to find anything really as the other tests didn't really find anything either.  And, we were partially correct today.  Let me explain b/c this will take some time.  Well, easiest thing to say is no disease causing genetic mutation was discovered.  Sort of.  They discovered an abnormality on one gene.  ARIDIB.  The variant is p.Q712K.  Now, this will become known in about a year of whether or not this is an actual gene mutation.  See, right now, it can swing either way.  It is a wait and see type of deal.  Wait for more data to come in and research of the gene.  So, plan is to go back in a year and see.  Great news is nothing that is life shortening so we are golden. 

Now, Duke wanted to run another test today.  We asked if it would make a difference between now and next year.  They said no.  We said no test today, let's see how he progresses and if symptoms still the same in a year when we check again for genetics, we'll run that test on him too.  Duke Genetics feels he may have Angelman's Syndrome.  Again, we don't know.  So hard to tell.  He is a complex case with an unique history to complicate matters.

Abuse.  Was he abused?  It is looking highly likely but honestly, we weren't there.  We know for certain there was normal development for the most part on trip one according to sources.  Still wasn't walking but his development was good.  Trip two, we were told totally different child (by other sources as we were not there remember).  There was a dramatic difference between trip one and two.  Dramatic.  All our therapists in the past had agreed there was some sort of trauma that had to have happened to make him the way he is today and to have that bad of PTSD.  And we also know accidents happen with kids and this could have been a horrible accident.  No idea.  Then, we also have the flat head.  We know for fact now, it is NOT from anything genetic as original medical reports of his suggested.  Our neurology team here thinks it is from laying in a crib for long, long time on his back.  BTW, he never sleeps on his stomach here.  One of the reasons we had done all this genetic testing was in fact to put this whole topic out of our heads.  Now, it appears it is part of his history.   It can not be erased with genetic testing.  It is a part of who he is and why he is the way he is.  Even with an angelman's dx (if he gets one), it will not take away some of the other things that appeared to have happened.  Can we say this is fact.  NO.  We were NOT there.  All this is speculation based on evidence presented & Nate's symptoms.  Do we blame anyone?  NO.  How can we when we don't know exactly what happened.  Nate is who he is and he is ours.  We love him no matter who he is.  Having knowledge though allows us to better understand how his mind works and to prepare for his future. 

I will again reiterate, we do not know exactly the causation of Nate's many symptoms.  We can only speculate based on hard evidence and put the pieces of his puzzle together.  I do not want anything negative said on here as NO ONE truly knows.  Nate doesn't sleep a whole lot compared to most kids his age.  He has very disturbed sleep.  Wakes up crying.  Is terrified of certain things but we have since desensitized him of many of them.  Is beyond terrified of falling.  And many more things.  He does not officially have a dx of PTSD but if we take him to a psych, he would.  All docs agree there has to be previous trauma of some sort to have the reactions he does.  The whole point of this is to say this child is safe, overcoming more than you can ever imagine daily,  and is loved beyond measure.  Those are things you must know.  At this point, we honestly don't care which dx he has.  Nate is great!  He is who he is and we love him for it.  He is capable of learning, capable of doing anything his little heart desires.  That is what counts more than anything else said on this page.  This btw, is the first and last post I'll ever write about this 'stuff.'  I just can't write it out again.  I'd rather show who he is and what fun he has at the lake or playing with sibs.  In other words, his life NOW. 

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