Dreading the worst tomorrow.....

[MRSVICTOR]

So life is great and we're trundling along quite happily, 41 first baby, scans all fabulous and apart from an occasional chunk of brie i've done everything by the book.
Having the amnio was a bit of "oh will we wont we" but as we're older we decided to go for it - never for a minute thinking anything could possibly be wrong.
Fast forward to Friday when our world crashes down to our feet. Our little baby has 'chromosonal abnormalities, very rare, haven't seen anything like it, surprised the baby hasn't miscarried' - WTF?
Turns out our baby has sex chromosomes XXXXX or pentasomy X syndrome as I now know after many hours on the internet. I haven't read anything positive on the net about this condition, apparently there are less than 100 reported cases since 1963, so i'm hoping the consultant tomorrow is going to tell me something magical and its all a big massive mistake.
Does anyone know if its possible that the results from the amnio can be wrong? Could the placenta have these abnormalities and the baby fine? Can anyone give me a little ray of hope from somewhere????????????? Virtual hugs also gratefully accepted.....

Thanks for sharing your story Katie, maybe lovely is the wrong word in such a horrible situation, but you sound positive and strong and that can only be a good thing. Relax and enjoy your time with your mum x

Hi Mrs Victor, cross posted. How are you feeling this afternoon?

I know this is an old thread but desperate to know if anyone else has had a Pentasamy X diagnosis??? Last week we ended our pregnancy after finding out that our daughter had this condition. We're not going to rush into anything straightaway but I'd like to think I will have the courage to try and conceive again. I've contacted the Genetics team today to find out if there is any additional testing they can do to find out if I'm high risk for Pentasamy X but I honestly don't think they'll have an answer for me.

If anyone else has any knowledge of Pentasamy X I would be so grateful if you could share it or your story with me. Especially anyone else who had this in a previous pregnancy and then went on to have a healthy child.

I'm nana to a little Patau baby boy,Oliver who is today being terminated, I would just like some hope for my son and daughter in law that there may be a trouble free pregnancy in the future.They are only 30 years old and their first baby

I've sent you a pm aandjmum

I don't have a healthy child but I do have a child with a rare genetic disorder 30 kids world wide!!!
Lots of cross over of the condition you mentioned. !!!
He is perfect ... In his way!!!! I love him with all my heart! Id never ever change him!!!! He's amazing ,... Just the way he is!!!!!

I'm really sorry that you are going through this.

We lost our dd2 to T18, we opted for a tfmr. I am more than happy to answer any questions if it would help.

Lucky it really depends on what you consider to be a 'healthy' child.

DS 6 has a rare genetic mutation. He is delayed to 18-24 mths. Has seizures, severe autism and sensory issues, can't walk well, little speech, and struggles to regulate his temperature. Although he is harder work than DS8 and Dd4 he is truly amazing and has a wonderful quality of life! Generally anyone who meets him falls in love with him as he has such a lovely nature ( when he's bad he is bad and a challenge)
His life is not limited though.

Have a look on uniques website which will give more info in the condition and will put you in touch with parents of children with this syndrome.

Oliver's family I've been thinking about you all. I hope mum & dad are coping well and getting genetic counselling ASAP to help make future decisions and to ensure they are grieving for their beautiful boy!!! Nana you sound incredibly brave!