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Rare chromosome disorder.

Hi all

I'm new to this site and am pregnant with my 3rd child.
My eldest is called Amber she is 6 years old and suffers from an extremely rare chromosome disorder, so rare that it has no name and as far as we know she is the only child that suffers from it.

It has delayed her development but to the eye Amber looks like any other child!.
It has been hard to get used to having a child that is different but Amber is extremely special to us and makes you realise how presious life really is.

We are members of a brlliant charity called Unique that help with unidentified disorders.

Just wanted to introduce myself and if anyone would like to chat who's going through a similiar thing i'm here.



  • Hi
    My lo has cystic fibrosis which is the one of the most common genetic disorders. Not met anyone on here yet with a lo with cf.
    Cf mainly affects the lungs and pancreas and we have to do a lot of physio and meds but other than that he is completely "normal" whatever that means!!
    It's been tough but he's the love of my life.
    Hope Amber is keeping well and that you are enjoying your pregnancy xx
  • Hi im new to this site but just noticed your post.
    Im 3 months pregnant with my second child and have jus found out baby is poorly, im commpletley in shock. Dont really know anyone who has been in a similar situation.
    I have got my cvs test on thurs to find out what the problem is but am told it is most likely a chromosome disorder.
    Did you find out about your daughters disorder while you were pregnant? Hope you dont mind me asking just trying to get my head round things xx
  • Hi,

    My 13 month old daughter has a chromosome disorder. She has an extra bit of chromosome 17 that has attached itself to chromosome 11 that has a bit missing.

    She is behind developmentally as in she can't sit on her own etc also she is only the size of a 4 month old and only weighs around 10lbs (she's been going up and down in weight recently over winter with colds and viruses.

    Mentally she thinks like a 1 year old so is very frustrated that she can't do what she should be doing.

    This chromosome abnormality also has no name as there are no other cases.

    She has had 2 twisted intestine ops and also a pda closure done on her heart - there is nothing to say these have been caused by the abnormality but there's a strong chance.

    My husband is the carrier of the abnormality and so with future children we have got various options.

    It is stressful and very frustrating but we'll get there. I have fantastic support from the nhs with various departments

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