Wednesday, July 3, 2013

DNA test results

Good morning everyone.  I hope you are all doing well and flourishing in this crazy world we live in!

Dave and I went for our follow up appointment with the OB on Monday.  It's been 6 weeks since we lost our baby.  It's hard to believe it has been so long.  In some ways, it still feels like last week.  In others, I can feel the healing that has been going on and we are doing so much better.

The DNA tests results showed that we had a little girl.  I'm so glad to know that.  I can't describe how I felt to find out, or how I feel now, but there is something about knowing the sex of our child that is wonderful.  It is heartwarming.

But there was a serious genetic problem.  She had Edwards Syndrome Trisomy 18.  There was only a 1 in 2000 chance of us conceiving a child with this disorder.  There is so much to say about how I feel about that, but first, what is Edwards Syndrome?

It is similiar to Downs Syndrome in that there is an extra chromosone.  Downs Syndrome has an extra chromosome 21, Edwards Syndrome has an extra chromosone 18.  It is much more serious than Downs with most children dying in utero in the second or third trimester.  Some make it to full term, either being still born or living for only a week at the most.  There are exceptions as always, with a rare few children living till they are older, although with severe handicaps.  It is rare for any child to live past the age of 5.

How do I feel about beating the odds again, but this time in such a tragic way?  Distraught.  At first it was such a relief.  We know what happened.  It wasn't our fault.  It wasn't my age or the quality of my eggs or anything that we did.  It was tragic bad luck.  But why, why, why?  Our slim shot at parenthood ended like this.  Why, why, why?  Why were we that one in the 2000?

We also learnt that it is more common as you get older.  The odds for a younger woman are 1 in 6000.  And that is because as we got older, our bodies lose the ability to know when there is a genetic problem.  A 25 year old woman wouldn't have gotten to the second trimester with a Trisomy 18 baby, because her body would have known and rejected the embryo straight away.  She would have just had a late period.

But the fact is, we had prepared for a Downs child.  We had already made the decision not to have an amnio.  If our child was Downs, it didn't matter.  We didn't care.  It was our child to love and care for and treasure.  But I had never heard of Edwards Syndrome.  It was never mentioned by any doctor (unlike the Downs possibility) because the chances of it were so unlikely.

Yet here we are.  Learning this news has set me back a ways in my healing.  I am so upset by it.  I feel so much for our little girl.  I still love her so much.  And I wish she was here with us, with just the right amount of chromosones to help her live a full and rich life.  But she will always live on in my heart and I now need to deal with the knowledge of her diagnosis.

So where to from here?  Today, I am making an appointment with our fertiltiy OB to begin the process of transferring our frozen embryo.  One good thing from this news, is that I have a little bit of hope back.  I hope that we have already done the "1 in however many" chance of genetic problems.  I have hope that now we will now be the 1999 in 2000 chance of having a healthy child. The problem is that we also beat the odds in getting pregnant in the first place.  I don't have a lot of hope that we can do it again.

Our frozen embryo is called "Nemo".  Dave gave it that name when it first went to be frozen.  It has a nickname already.  That's gotta be a good thing.

Love and Light

1 comment:

  1. I am relieved to hear optimism returning to your voice; not because of Nemo, but because of who you are - gaining your stamina and hope and love of life back.

    Nemo is in the hands of our Creator and so is your darling little girl. May you be blessed with guidance in the upcoming days, weeks, and months.