I woke up this morning feeling like the sky was going to crush me. The anxiety of the day is overwhelming. I nearly passed out in the shower - I tremble as I type.
The weekend was fine, but mostly because I was insanely busy with a family visit out of town. But back home, in my own bed, with my own laundry waiting for me in the washing machine and my job beckoning, I became crippled by my own thoughts.
Two more days.
My genetic counselor called on Friday to tell me that the Baylor lab had finished the exome and was awaiting a sign-off by the medical director there. The report will be released today or tomorrow and we meet to go over the results on Wednesday.
After 96 days of countdown, it is here. It is here. But now I have to face what comes with the “here and now.” Either we find out what killed my boys or we don’t. It is a classic situation of THIS or THAT. CUT and DRY. BLACK and WHITE.
That said, I got the “but” from my genetic counselor.
She warned me, again, that the test could come back without answers. Of course they will have found everything they can find as of now, but what the clinical significance of those findings mean could be unknown.
She also noted that the exome could uncover “other issues,” meaning that our son could have been a carrier for Cystic Fibrosis or another recessive disorder. Lots of little things that could mean a lot or nothing could rise to the surface of our genetic pool.
So I am going to spend the next two days jotting down all my questions for the genetic counselor - what does THIS mean? What does THAT mean? Can we cross-reference or target test to see if the findings in my youngest son match anything in the genetics of my oldest son?
I need strength. I need peace. I need answers.
One question you might ask is "who else can look at these?".
ReplyDeleteMy genetic counselor just told me that when they get an exome back, it kinda lands on their desk without much guidance. Maybe if your own counselors don't glean answers from it, they'll have suggestions for other people who could try to interpret it.
This was my concern, too. Our GC is awesome and very patient with me, but she is very young. Our hospital has requested about 30 exomes since June 2012, and we are our GC's second exome case. So the head of genetics at the hospital will be there tomorrow to present the findings (or non-findings) to us. I'm not certain if this happens for every exome case, or just for us...
DeleteExome is one thing - interpretation of exome is another.