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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Suspected Triple X syndrome

4 replies

Redcarandthebluecarhadarace · 20/01/2020 21:39

I've posted a couple of times about my daughters development delay and we're now at the stage where she's being referred for genetic testing.

After I started googling (I know, I know) we're fairly sure she'll be diagnosed with Triple X syndrome. She has almost every single physical sign and the development delays are clear.

I guess I feel like we're at the start of a long journey and since Triple X seems to vary so much in severity, I feel like I have very little idea of what might lie ahead.

So I think I'm asking if anyone has any experience of Triple X and can maybe shine a little light on it for me? It's easy to read about the facts but I'm more interested in how you/your sister/daughter/friend etc copes and how it has affected their life.

Thanks for reading and for any help you can offer

Xxx

OP posts:
hummummy · 27/01/2020 10:42

Hi there. My newborn has recently been diagnosed having had a high likelihood on a harmony test early on. I'm member of a Facebook group that is very helpful: Triple X Syndrome/Trisomy X. Lots of people on there who can provide their life experience. It's too early to tell how my newborn will be affected so I can't personally help. Good luck and hope you get some answers soon! X

lovemelovemydogs · 09/05/2020 10:00

My daughter is 12 and diagnosed with triple x. She also has pottery much every other condition that you can have with triple x except the pot belly and the eye shape. She is a gorgeous young lady although she can be challenging. This journey really is tricky because so few professionals know much about the condition and as you say, each individual really is so different.

lovemelovemydogs · 09/05/2020 10:02

Pretty much not pottery - drafted auto correct

Redcarandthebluecarhadarace · 15/05/2020 15:20

Thanks for your replies. We heard from the paediatrician yesterday and it turns out she doesn't have Triple X. Or anything else apparently. So we're in a strange place now where she has a lot of symptoms but no diagnosis. We've been referred to the genetics clinic but that obviously won't be happening for a while.

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