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TFMR - Termination for Cri du Chat syndrome and Potoki-Lupsik syndrome

"I made the 'decision' to have a termination for medical reasons at 26 weeks. It was the hardest and most heartbreaking decision I’ve ever made."



I fell pregnant at 33 for the first time, I was about eight to ten weeks along when I found out and we had been trying to get pregnant for four months. There were a lot of issues in the relationship I was in, with my now ex partner, but when he found out I was pregnant, he made a real effort.



I was completely overjoyed to be pregnant and everything felt perfect up until my 20 week scan. Unfortunately my baby’s father couldn’t come to the scan as he was working and he was unable to get the time off.


During the scan the midwife saw that there were things anatomically wrong with my baby. The part at the back of the brain had not developed properly, there were 4 defects detected in the heart and fluid on the lungs. I then made the decision to have an amniocentesis to test for defects. The initial tests for Down syndrome, Edwards syndrome and Trisomy 18 came back negative. I then had to wait six agonising weeks for results of the in-depth testing of genetic problems. I received them and we went to see a genetic specialist with twenty years experience who told us that my child had Cri du Chat syndrome and Potoki-Lupsik syndrome. Both are considered severe genetic illnesses which meant my child would never eat, speak or sit on their own.


So, I made the decision to have a termination for medical reasons at 26 weeks. It was the hardest and most heartbreaking decision I’ve ever made.


My ex partner did not agree with my decision at all, he refused to believe that his child could be ill even with the results of the genetic testing and the opinion of an experienced specialist. He put all the blame on me and when we came home from the appointment with the specialist, he pushed me into a door which resulted in me having a huge bruise on my shoulder for almost three weeks. Unfortunately I was in no way in a place to leave him at that point having just received the worst news I could have ever imagined.



Giving birth to my child who’s heart had been stopped by an anaesthetic administered directly into it two days before was the most excruciating physical pain and emotional pain I have ever felt. My beautiful daughter was born on the 16/09/16 at 10:23am and her birthdate and time were a comfort to me as they all had a connection to the number 3 which has always been my lucky number. I named her Ana Maria.



A little over six years later my heart is still broken, I am still recovering from the trauma of her death and the abuse endured from my ex partner, luckily I managed to be strong enough to leave him four months after my TFMR.


I love my daughter and I miss her more than I could ever explain.


Julie Barnay, TFMR Mama - Ana Maria's Mama @wanderlustwanderer3