Freddie’s Story
We found out we were pregnant on New Year's Eve 2025. We had 2 early losses in March and October of the same year so we were anxious at the beginning. We made it to 8 weeks and went for a private scan. Everything was how it should have been. Our 12 week scan came and again everything was looking as it should be. Our due date was confirmed as September 14th.
16 week appointment with community midwife I heard baby's heartbeat for the first time- heart beat healthy. The best sound in the world.
16 weeks and 4 days pregnant we went to bump to baby for a health and gender scan. We found out baby was a BOY. Everything again looked how it should have.
19 weeks appointment on 20th April- our anatomy scan. This is when things took a turn for us. The girl scanning me explained that baby's cerebellum in his brain hadn't formed the way it should. (The usual is a peanut shape) his was not formed at the bottom half of the 'peanut shape'. She also couldn't get a proper look at baby's heart because of the position he was in- this didn't worry us as much as his brain abnormality as we thought she just couldn't get a good enough view. She explained she would refer us urgently to a fetal medicine consultant which could take a few days- she explained there was no fetal medicine on site to give us a 'second opinion'. She sent us on our way and told us not to 'google' anything. We left the hospital that day with many questions and fear of the unknown. Of course I went straight onto google.
There was a number of conditions coming up but we we tried to stay positive (talking ourselves into things like maybe his hasn't developed fully yet as we are only 19 weeks or maybe he wasn't lying in the correct position for a good enough view).
A whole week later we had our appointment with fetal medicine (20 weeks pregnant). The consultant scanned me for around 10 minutes checking all organs again. Once he was finished he sat me and Elliot down. He explained that what the sonographer had saw at the 19 week anatomy had been confirmed on his scan. Baby had an abnormal cerebellum which had not formed the way it should. (Cerebellar vermis and enlarged cistema magna). He also told us that baby's heartbeat had a VSD.
We went into shock I think. But we tried to ask as much questions as possible. He explained it looked like a condition called 'Dandy walker malformation'. He strongly recommended an amniocentesis to rule out any chromosomal abnormalities. He also referred us to a fetal cardiologist to get a better look at baby's heart and booked us an appointment for a fetal MRI of baby's brain.
What came next broke me- he suggested termination. We explained that we could not make that decision without knowing for sure what was wrong with our baby. We were too much in the 'grey area' of uncertainty. Dandy walker syndrome I said? I had looked it up and it can be mild to severe. It would be difficult I'm not saying it would be easy but it would be something me and Elliot and our families would navigate. We were already thinking of the future and will he be able to walk? Talk? Eat himself? Will I be able to work again? What school would he go to? So much went through our heads after that appointment.
At this point I contacted my community midwife Emma. I was a total mess and I needed to speak to a midwife that could give me support. Emma was so helpful- she rang me out of her working hours and spoke to me on the phone for over an hour. She had a lot of knowledge on dandy walker syndrome and she experience of the condition through family and friends.
As explained I was offered an amniocentesis and I was very nervous about this procedure as I know the risk of miscarriage. The following day however I changed my mind and I went back to the hospital for an amniocentesis. They also took mine and Elliot's blood for it to be tested in the lab.
The following days seem like a blur waiting on results.
3 days after the amniocentesis test I got a phone call from the consultant. He started the call by saying I have some very bad news about your amniocentesis test. Baby has a syndrome called 'Patau syndrome' also known as Trisomy 13. He started explaining the effects trisomy 13 has on baby's and how 90% don't make it to their first birthday and most cases don't make it to full term or result in stillbirth.- Again I went numb and was in an outer body experience on that call. To be told that information over the phone was horrendous.
The following day we spoke with the sister at fetal medicine who talked us through the options. Continuing with the high risk pregnancy or a termination for medical reasons.
After support of family, midwives, bereavement midwives, charities, we made the hardest decision of our lives to have a termination for medical reasons.
During the time of finding out the diagnosis and 'waiting' for the termination for medical reasons I spoke with my community midwife again. This was when she put me in contact with a girl from the charity SOFT who also had a baby boy with Trisomy 13. We spoke over a number of days through voice note and voicing my feeling to someone who knew exactly what you were going through helped me more than they will ever know. I still keep in contact with this girl 9 weeks on from losing Freddie.
We didn't want to see our baby suffer and we knew there was no 'cure'. It was choosing to say goodbye at an earlier stage. It was choosing to take on all the pain for the rest of our lives so that he didn't have to feel one ounce of pain. At this time it didn't feel like a choice because it was inevitable that Freddie was going to die. Regardless if we made that decision he couldn't have survived with this diagnosis of patau syndrome.
Since then we have spoken to different professionals. One being a fetal medicine doctor in the Ulster Hospital. She explained that the blood tests me and Elliot had done were called karotyping and that they were being grown and tested in a lab to explain if this was a 'chance of bad luck' or a genetic inherited problem with one of our chromosomes.
4 weeks later we got the result's back and they call it 'sporatic' meaning a chance of bad luck. It was a relief for us that there was no problem with our chromosomes but we may have had a 'faulty' chromosome that was the wrong shape etc that caused Trisomy 13. This is not the case for us and no further genetic testing was needed.
It doesn't change the outcome for the loss of Freddie and my question is why did he have to endure this. 2 in 10,000 is the UK statistics for Trisomy 13.
I chose to have a surgical procedure when having Freddie. Meaning I was put to sleep. We didn't get to hold him or see him. I chose this option because I didn't want to labour in a labour ward with other mums. We didn't want something so traumatic to be made harder for us. We find it hard that we never held him but I like to think I was with him through the whole procedure even though I was asleep. He felt my warmth and that's all he ever knew.
I am writing this 9 weeks on from losing my son Freddie. It never gets easier bit you learn to live with the pain and the grief. Joy and sadness co exist now in my life. I wish things could have been different but I know there's nothing we could have done to prevent Trisomy 13.
The hardest part that sticks with me is feeling Freddie move inside me hours before we made the trip to the hospital to terminate for medical reasons. It wouldn't be everyone's choice but I knew we had to make peace with the choice that we made. I hope and pray I see him again one day, whole, healthy and free of his condition.