Tuesday, July 16, 2013

Time To Come Clean – 97 Days Post Exome



It has been 97 days since I learned the word “Glycosylation.” Still today, I say the word out loud, let it roll off my tongue and out into the air, just to be able to say it, just to be able to know it.

We have begun to heal in all the ways people heal. We have plans to bury our second son’s urn, to buy his headstone and hold a small, private service. We go to the cemetery for their birthdays and death days. I cry a lot less.

Perhaps the most significant and terrifying change in our lives has been our big, big secret for the last 16 weeks.

I am pregnant.

Now settle down! I know about one half of people who think we are NUTS to do this again, and they are right. The other half of everyone thinks we are brave and lucky, and they are right, too.

Because of all the things we have learned from our trip through the genetic experience, we have learned hope and we have learned fear. Now one emotion never comes without the other, no matter what the genetic tests say. But I must say, with all my heart and all my being, thank GOD for the genetic tests. Thank God for the definitive answers, for the black and the white with no gray in the middle. Thank God for the yes after so much no.

Our third son is heterozygous – a carrier of his father’s mutation on chromosome 22, gene ALG12.

And he is healthy.

After three ultrasounds to confirm heartbeat and growth, my husband and I high-fived during a normal NT scan with a normal NT reading. Still taking nothing for granted, I underwent a CVS with no complications. Two weeks later we got the news – the baby is genetically healthy.

Last week we went in for an early ultrasound and saw our happy baby boy wiggling and waving. So far all his major organs look good – heart, lungs, brain especially. We go in for the average anatomy scan in four weeks.

I am happy – so happy and so blessed. But I never, ever want to downplay the chance we took in the conception of this baby. We played genetic roulette and we know it. Single gene recessive was our best case scenario and it is still terrifying. A 75 percent chance of success means very little when you have failed twice. This was a life or death decision – a certain doom if genetics went badly again.
As in every turn of this journey, our decision to do this again naturally – and we very nearly went ahead with IVF/PGD – isn’t for everyone. If you are a genetic carrier and you are considering natural conception and genetic roulette, please don’t plant my story in your head as a story of success. Your chances, while statistically the same as mine, must be weighed within your own situation, within your own genetic disease.

If you had asked me last year about another baby, I would have cried my answer into your shoulder – “I don’t know.” To family, we were blunt – no more dead babies.

Though I still grieve my boys every single day, my heart is ready for the child I carry now. This baby will not bring anything lost back to me. He will not replace my lost boys nor diminish their place in my heart. But he is part of the process of healing – he is what genetics gave after so much was taken away.

He is a miracle.

1 comment:

  1. I have been checking back for updates and I am so so happy to see this today. So happy for you and this miracle! I am sure this must have been so scary and hard but how wonderful he is healthy!

    We have had different paths. Mine has been IVF due to MF for my first 2 children, 2 miscarriages, then a third after getting pregnant easily on our own. I am 13 wks with our fourth. All my kids are miracles, but I remember after those 2 losses (I am not comparing my situation to yours AT ALL), I just held my breath until he was born. After all that pain and fear I thought, he is here. He made it. He is a miracle.

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