One of the most difficult experiences of my life

In 2019 my husband and I were blessed with the safe arrival of our eldest son. I am a carrier of Fragile X Syndrome which resulted in symptoms of FXPOI (premature ovarian insufficiency). We had been advised that the chances of me becoming pregnant were slim, so we were feeling incredibly lucky to have managed to conceive naturally. We had chosen not to have an amniocentesis during the pregnancy due to the risks involved. So, when our son was born, he was tested for Fragile X Syndrome. We found out at a few weeks old that he had Full mutation Fragile X Syndrome and had therefore inherited the condition (there was a 50:50 chance as only one of my X chromosomes is affected).
Fragile X Syndrome is a genetic condition affecting around 1 in 4000 males and 1 in 6000 women. It can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional, and behavioural problems. Some may experience connective tissue difficulties such as difficulty breastfeeding, hypotonia, hyper flexibility, flat feet, recurrent ear infections and mitral valve prolapse. Fragile X Syndrome is the most common inherited cause of learning disability (taken from the Fragile X Society website).

In 2021 we underwent IVF treatment. The plan was to then have PGD treatment to try and have a child who would not have Fragile X Syndrome. Unfortunately, during the IVF treatment no eggs were harvested. As a result, further treatment was not considered to be viable. This was really hard news to digest. We knew that we might not get many eggs due to me having very few follicles, and then that the chances of having healthy embryos after this were very slim. However, to not even get past the first hurdle was heartbreaking.

We were keen for our son to have a sibling so that he would hopefully have the benefits of that relationship. Despite the low odds for conceiving naturally that we had been given by the fertility consultant, we decided to try in the hope that the odds would be in our favour this time and if we did get pregnant the baby would receive my good X chromosome. To our utter surprise and joy in 2022 we found out that we were pregnant and at our 8 weeks scan we found out that I was carrying twins. What a lovely surprise this was!

At our 15 weeks scan we thought we were having a girl and a boy and as girls are less affected by Fragile X, we were planning not to have any further testing. Then at our 18 weeks scan we found out that I was in fact carrying two boys and we decided to have the amniocentesis to find out if they had Fragile X. Having the amniocentesis was tough – knowing the risks to our unborn children.

Initially the results we were given were that twin 1 was fine and that twin 2 had Fragile X. Then at our next appointment a few weeks later we were told that the genetic testing had actually discovered that twin 1 had another rare genetic condition called CNKSR2, and our consultant did not know much about it.
We were given an emergency appointment at clinical genetics and it was during this appointment when we learned the severity of CNKSR2 and just how bleak the prognosis would be for twin 1, our world fell apart. Then we faced the hardest decision we have ever had to make. We had to decide whether to continue with the pregnancy, terminate the pregnancy completely or have a selective feticide/TFMR of twin 1.

My initial reaction at our appointment at clinical genetics was that we would just continue with the pregnancy and do the best we can for our boys. However, we then had to consider what would be best for all our children, the fact that my eldest boy and twin 2 would both need additional support and how much suffering twin 1 might experience. We felt well and truly ‘stuck between a rock and a hard place.’ I had a midwife appointment at some point before the scheduled TFMR and she could not find a heartbeat for twin 1. I then rushed to the hospital for a scan, and all was fine. I had such mixed emotions during and after this experience. Part of me hoped that fate had taken this most agonising decision out of my hands.

At 31 weeks we had the TFMR. Having a large needle placed through my stomach into my womb and into twin 1 to stop his heart and knowing that during this process I had to remain as still as possible was one of the most difficult experiences of my life. I hope that one day I will be able to forgive myself, but for now I carry huge guilt.

At 37 weeks our twin boys were born by c-section. Twin 2 was actually born first followed by our sleeping angel, twin 1. Twin 2 needed support with his breathing and was taken to NICU straight from theatre. Not being able to be with him was incredibly hard. It did mean that we had time with twin 1 though, a chance to say goodbye. I had been anxious about seeing twin 1. We had been forewarned that he may be disfigured. I need not have worried, as soon as I saw him all I felt was love. Yes, he may have been a bit squished in the womb by his brother, but he was my boy and to me he was perfect. There was just an immediate instinct as a mother to love and want to care for him. Staff took twin 1 to NICU to be photographed with his brother and then we went up to the ward. We were in a private side room and staff were so supportive in giving us time to grieve and say goodbye to twin 1 at the same time as providing regular updates on twin 2 and switching our knitted bonding squares.

The grieving process has been extremely difficult, and once home I felt quite alone as a twin mum with a baby to care for and grieving for my twin that had died at the same time. Then I discovered Footprints Baby Loss and I found parents who truly understood my experience and I was able to talk openly without feeling that I might be judged.