For months I have heard about trisomy 21, chromosome deletion and translocation, mosaic chromosomes and karyotypes. While these terms usually soar over my head, when they are attached to a baby I like, sometimes I can ground them.Last week I was talking to the wonderful NICU doctor about a baby with klinefelter's syndrome. (47 or XXY syndrome) He pulled out a karyotype (an organized profile of a person's chromosomes - like the picture on the left) to explain it. I began asking more questions. The Jones baby with downs? Trisomy 21. (3 chromosomes instead of 2 in the 21 space) and the baby with Cri du chat? (a deletion of a small portion of chromosome 5). A baby that only lived one hour after birth? (lethal chromosomal abnormality.) I learned that translocation of some chromosomes are one cause of infertility and the cause of some cancers. Some anomalies are "incompatible with life" and the body expels them so early in the process that the parents don't even know they were pregnant. We talked about the process of DNA replication where a baby is being formed and how fragile and specific the whole thing is. 46 chromosomes have to come together in a whole and structured order. He said it is a total miracle that any of us are "normal".
The doctor had some babies to visit. So he handed me a copy of the Handbook of Neurodevelopmental and Genetic Disorders. Terrifying. If you are thinking of getting pregnant, please do not open this book. There are devastating mutations that can occur that I couldn't have imagined if I tried. I had to walk right up stairs to the Well Baby Nursery and peer in the window for some equilibrium.
He also suggested that I meet with a pre-natal genetic counselor. She was a bright and engaging woman who talked about how to prepare parents for the challenges their chromosomally challenged baby might bring. She offers resources and support groups and education. As "the messenger" she sometimes gets "shot" at in the shock of discovery. Mostly she comforts and guides.
Perfect. Normal. Mutated. Incompatible with life. That is quite a spectrum.
Yesterday Josh told me he had had an almost perfect day. (Thanks Angela and Ashton!) I asked what would make it totally perfect. He said if they had also gone to Fun Depot, Sonic and Olive Garden then it would have been perfect.
I thought about all the mutations that challenge a normal day. In my circles this week there were little mutations like allergies and taxes. And big mutations like a fender bender and a dead engine and impossible coworkers. I thought about the days I've had that were "incompatible with life" and how thousands of tiny pieces have to come together for a day to just be normal. - no flat tires, no family crisis, no oversleeping or stressful phone calls.... It's a miracle we survive.
I want to be more aware of the Holy counselor accessible to me for guidance, encouragement, comfort and empowering as I navigate the anomalies of life. In this crazy world, it's really my only hope for equilibrium.
May the God of hope fill you with all joy and peace as you trust in him, so that you may overflow with hope by the power of the Holy Spirit. Romans 15:13
Come on budding geneticists. Is the picture above a genetic code for a male or female?
I think it's code for "non-gendered perfect image of God"
ReplyDeleteIt is a miracle that we even survive, and an even greater miracle that sometimes we thrive.....in His presence is fullness of Joy!!
ReplyDeleteI like what Karen said. :)
ReplyDeleteI often look at my children and wonder how it all happened, without me knowing or doing (well, I did it at least three times). I just made (with some help from Clayton) the most complex machine. A miracle.
Tell Josh that next time we will try and fit all that in because I'm in the business of making perfect days. :) I so love those boys.