Tuesday, 31 May 2016

Genetic Testing Turns Into Flat Gingerale

Yesterday we saw our geneticist.  When we got the call for the appointment, the secretary had informed us that she was moving to the East Coast next month.  I assumed that our appointment was just a routine consult to follow-up with Gideon prior to him being transferred to a new geneticist.

Nope.

Our genetic testing results came back.

I equate it to a long snare drum roll, thick velvet curtains being slowly pulled back to reveal a tall man dressed in a slick tux.  He then pulls out a whoopee cushion and sits on it.

The Whole Exome Sequence analysis came back practically normal.  There was no gene variants found to account for his phenotype (a fancy word for his unique genetic characteristics).  What they did find was a "Variant of Uncertain Significance" on his PTBP1 gene. Technically speaking: It is the gene that encodes the polypyrimidine tract-binding protein 1.  

What does this mean for us?  Pretty much nothing.  They have never found this variant before in humans and "To date, no pathogenic variants in the PTBP1 gene have been reported in association with a specific human disease to our knowledge".  One of the issues is that the function of this gene has not been "completely defined".  - What we know about it is that a) it plays a roll in pre-mRNA splicing  and b) that it can have an effect on neural stem cells.  -  That is all they know about it.

Because they know so little about it, they can nether confirm nor deny that it could be the cause of his differences.  So maybe we have an answer.... maybe we don't.

So what is our next step?  Wait.  We wait maybe 5 years to check the collected DNA pool for someone else with a variant on the same gene.  We wait and hope that more research is done on the PTBP1 gene to help us understand it's function and what a variant on this gene could mean and we submit his DNA to research studies.  That's it.  We have been discharged from our geneticist and have to wait to be re-referred once enough time has past to check the DNA pool or genetic testing technologies get more expansive.  *Insert whoopee cushion sound-*

Gideon is a pioneer.  What he has is very very rare.  I guess we are the ones laying the path for someone else- if this gene variant is the answer.

I was hoping for some answers.  I was hoping for some insight into what we could expect for Gideon's future.  I was hoping to find out there were other people with children like Gideon that I could talk to.  But now I am left with the unknown.  An unknown that only leads to uncertainty and more questions.  On the plus side, since we have no real diagnosis or prognosis Gideon is not limited yet by expectations that go along with those things.  So I still have hope.

With Gideon there will always be hope, faith and love - no matter the circumstance - and I can live on that foundation.  These things ground me and give a consistency, even when faced with exhaustion, dismay and unknowns.  I know I would be a complete mess and my family would be a complete mess without my reliance on Jesus.  We all need something to lean on, to propel us forward when all we want to do is make it all stop.  I'm curious to know how other's in similar situations get through the thick of it all?

How do you come to terms with the offsetting unknowns in your life? How do you find that inner peace?  What keeps you held together?  How do you keep from falling apart?             






  


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