The curious case of an Absent Nasal Bone

Its not for the first time that the thought of having another baby struck me. I remember telling my mom soon after Avani that I would want two kids back to back and then get on with career. But what we plan doesn't stand a chance unless its approved by the One above all of us. 

Avani's diagnosis at around two years of age changed our world completely. In the last seven years, I conceived twice before and after much deliberations and heart break decided to terminate both the times in less than six weeks. Its tough on everyone. 

So when you realise that you have a third opportunity, you feel that this could very well be the last! I wanted to grab it before its too late and I really thought that I am indeed destined to have another baby. 

But by the time we hit the 19th week mark, the thought of terminating pregnancy has crossed my mind once again.

Once in car, I break down. The radiologist told us that absent nasal bone is considered a soft marker for Down Syndrome, also known as Trisomy 21. The child born with this condition could suffer with a wide a range of cognitive and physical limitations.

Are we 'strong' enough to have another child with special needs? I have a long list of friends and relatives who in a very well meaning way call me a 'strong' person, a 'brave' mother! God chooses people like me to throw such challenges... So let me just confess once and for all, I am not 'strong'. Please God, now spare me your 'challenges'. 

Before we reach my Gynae for further planning, I google everything about medical issues concerning an absent nasal bone. There were no other anomalies in the scan, and we are advised to see an expert in Apollo's Fetal Medicine Department. 

It was a horrible night. I cry and curse every tissue of my body for being incapable of producing a healthy child. 'Why me'??? Rather 'why me' again!?!

Doctor hears me out patiently. She knows my first child is on Autism Spectrum, she knows am a nervous wreck at that moment and she knows that this is the closest I would ever be to have another shot at maternity. We also meet a Geneticist in the same department. 

We are advised amniocentesis which basically means drawing out amniotic fluid from placenta and testing it to confirm if the baby has any chromosomal issues. The results will either rule out or confirm Trisomy 21, Trisomy 18 and Trisomy 13 abnormalities a hundred percent. The geneticist suggests another test called Microarray using the same sample. Chromosomal Microarray (CMA) will be done for genetic testing in a range of 7,50,000 combinations to look out for any unexplained developmental delay/intellectual disability or any other anomaly in my unborn child.  

Both reports would take approximately three weeks to come and the wait is agonising. By the time reports are out, I would be 22 weeks plus and legally cannot terminate pregnancy. So no matter what, this baby is coming. 

Note: I am not writing this blog in real time. Am currently 32 weeks pregnant and these tests, there follow ups, second/third opinion have been sought. This blog is an attempt to fight my fears/concerns and uncertainties through positive vibrations from friends and family. Its been a tough journey and challenges have been many, will keep you all posted on how it goes. Due date is 11th December - another coincident, as Avani was born on 11th December too :)