I have a story to tell you all. I dont know if you remember but way back when I started this blog I think I did an entry about a special screening test I did when I was 12 weeks pregnant. Its called a maternal serum screening and a Nuchal Fold test. With the MSS they take a blood sample to look for particular things in your blood, I cant remember what they were and with the NT scan, they do an ultrasound to measure the fluid behind the baby's neck. With these results they put them into a computer and they come out with an odd or a risk factor, and these give you an odd of having a child with a genetic disorder, eg Downs Syndrome.
When I had my test, based on age alone, my risk factor was 1:433, but when combined with my blood test results, the risk increased to 1:53, basically I had the same risk as a 41 year old woman of having a child with Downs Syndrome. I was given the option of having an amniocentisis but declined because when I was 9 weeks pregnant I had a bleed and was worried that I would have a miscarriage. It wasnt anything serious, I had what was called a "Subchorionic haematoma", I dont know what the hell that was but at least it wasnt coming from the baby.
Anyway, when I had my 18 week ultrasound, there was a query on the results, stating that my baby's femur bones were measuring about a week behind the rest of her, and this was an indicator or a soft sign of Downs Syndrome. I was beginning to worry that maybe the baby I was carrying did have DS but I was in denial and said that everything was completely normal. But then when I had my 35 week ultrasound, the same thing kept coming up, that my baby's femurs and humerous were short for dates, then with the cardiac anomaly it seemed more likely that my baby did have DS.
I did a lot of reserch on the internet about DS and I had a feeling that maybe she was, but I nobody was 100% sure. When my baby girl was born, and they put her on my tummy, I stared into her beautiful eyes and I knew she had Downs Syndrome. The shape of her eyes gave it away, but I fell in love with her all over again. I knew early on in my pregancy that I wanted to keep this child. God had sent her to us for a reason. She has the common form of DS called Trisomy 21, where chromosome 21 splits into 3 thereby giving her 47 chromosomes not 46. The baby doctors said she has excellent muscle tone and her APGAR scores after birth were excellent too 8 and 10. She has terrific reflexes as well, something that DS children often dont have.
So there you go, my daughter has Downs Syndrome. She may not be perfect to other parents, but to me she is and i wouldnt trade her for all the "perfect" children in the world.
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