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Costello Syndrome - Diagnosed in Pregnancy - Advice Wanted

3 replies

M0903 · 26/06/2023 18:17

Hello, I am 26 weeks pregnant and have just received a diagnosis of Costello Syndrome for my baby girl. We have been offered a termination as an option and I am a complete mess. I am terrified of making the wrong decision and cannot bear the thought of my daughter suffering. If anyone can offer any advice / experience with this, I would be very grateful. Thank you

OP posts:
QuinnofHearts · 26/06/2023 18:18

Hi OP. I have no experience of this condition, but unfortunately for me I do have experience of TFMR. I'm just about to bath my children, I'm happy to share my experience if you need more information.

I am so sorry that this is happening to you, I still ache in my heart for my daughter. Please let me know if I can help.

QuinnofHearts · 26/06/2023 20:22

Hi Op. I'm going to leave you a message in here, and for anyone else in this awful situation. Because that's what it is, really fucking awful.

I had a really traumatic pregnancy with bleeding, amniocentesis, diaphragmatic hernias and finally after genetic testing, a diagnosis of a depletion in several chromosomes. Our baby would have had painful life, if they survived birth. My husband and I made the painful decision to undertake a termination for medical reasons (TMFR).

I truly believe that as a parent, you never want your baby to suffer and you want the best possible life for them. I believed in my heart that my baby girl wouldn't have the best quality of life, and I knew she would be in pain that she couldn't communicate. Not only did she have a rare chromosome disorder, she would have to undertake surgery to repair the hole in her diaphragm as well. The odds were stacked against her before she even arrived earthside.

I want you to know that I'm a caring and patient person, truly. I'm a nurse and prior to that, I was a support worker for children with learning disabilities. I've seen how hard it is for parents and guardians, and both me and husband felt we couldn't do it. We already have a 4yr old, and I didn't want his life and accomplishments to be overshadowed.

The only time that we considered the other option, continuing with the pregnancy was when we thought that "she could decide". However, this would have been cruel for me and her.

We made the decision on the Friday, and I was admitted on the Monday to have her.

I'll happily speak to you more if you like, just the rest of the situation is incredibly personal and I don't wish for a bunch of people to make judgements on my decisions. The Reddit forum for TFMR is incredibly empathetic and supportive.

We are here for you.

SLB1994 · 26/06/2023 21:40

@M0903 Hi darling - not sure if you’ve seen my private message so messaging on here too x

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