Hi there monten. I havnt posted on here for a long time, but had to reply to you. In 2010 my 12 week scan revealed a borderline high nuchal of 2.8 with the cut off being 3mm. We were referred to a consultant who arranged an amnio at 15 weeks. The results ofvthis were normal for dwns, pataus and edwards, but we were told there was a slim but unlikely possibility of it meaning heart problems, but the general concencus was that our baby was fine, especially as the nuchal at that point had returned to normal. We were ecstatic, the waiting was one of the worst times of my life. On the day of our 20 week scan though, the nuchal was once again raised to 6mm, right on the cut off point. Also, the couldnt see my babys heart properly, and it appeared that part of the brain callled the inferior vermis was missing. We were devastated. We went for brain mri scans, and heart scans, all of which seemed normal. It was decided that it was most likely our baby was fine. I asked every question, and did all the research I could, with the genetic condition noonan syndrome being a possibility. However, it was considered unlikely, and we were a given a 95% chance of our baby being perfectly healthy.
My daughter was born 3 weeks early, and newborn examinations showed her to be normal. We skipped home on a high, but within days she had feeding problems and lost weight. She was readmitted, and was discovered to have several problems with her heart, and a genetic condition suspected. We screamed against it, desperate for our fragile girl to make it, and just to have the life we wanted for her.
She is 3 now, and we have had every genetic test available. She has had heart surgery, and it is thought she has a genetic conditiin affecting 200 ish people world wide, called cfc syndrome. She has severe global delay, motor, and feeding issues, heart and skin problems, severe reflux and cannot yet speak. We have been to hell and back and are still always battling to help her. I have given up work tocare for her, and we moved house last year to accomadate her needs. At the time during pregnancy, we had made the decision to terminate if they found something wrong with our baby, as we worried about what the future would hold for her, and all of us as a family - we have a 5 year old too. It was and has been the most difficult time of our lives, with tears, anguish and grief.
But, she is the light of my life. She is beautiful, brave, resilient, determined, strong willed, patient, and funny. I am proud of her every achievement, and feel that I will walk my life beside her, encouraging her on and will never let her down. Our lives now are very different, but right. It is not easy being mum to a special needs child, but we get along, and have a new type of normal.
We are trying for another baby, and are scared it will happen again, although we are told it is not likely to. If it did, I know my warni g sign would be the high nuchal. We would terminate, because for us we dont think we could cope with 2 children with this condition. But do I regret the decision to continue with my pregnancy ? Not at all - its hard but we are blessed, and I hope I am a good mum.
Whatevere news you have, or whatever decision you make, you will make the right one for you and your family. Be calm, strong and follow your instincts. Whichever path you take, there are people who can support, hold hands, and help. All anyone can do is make a decision that is right at the time, and as long as you follow what is in your heart you can move forward.
I hope this helps. Good luck. Xx