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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

Mosaic Turner syndrome diagnosis

7 replies

Picklypickles · 02/03/2021 10:36

Hi, sorry this is in the wrong section. I have posted in Childrens Health but not had any replies so thought I'd try AIBU.

So, my 9yr old daughter has just been diagnosed as having mosaic Turner syndrome. She was originally referred to our local Child Development Centre because of her behavioural issues brought up by both her pre-school and then school, coupled with the fact her dad has both Aspergers and ADHD. The Doctor she saw was not concerned that she has either of those conditions but did flag up her small size as a possible concern, she was then referred to the hospital and had bloods taken. I wasn't at all concerned about her size, I'm 5ft nothing myself and most of the women in my family are petite. I wasn't expecting anything to come of the blood test tbh and it really came as a shock to hear that actually yes, there is something.

So next thing is she will need to go back into hospital again and again and again for various scans and tests of heart/kidneys/ears etc and will need to see a genetecist. The Paediatrican told me there is a lot of misinformation out there regarding Turner syndrome and that I should only refer to the Turner syndrome Support Society for advice and support. So far I've not been able to get hold of them at all.

Does anybody have any experience of Mosaic Turner syndrome that they could share with me? I feel completely in the dark, I don't know what questions I should be asking when we meet with the Paediatrican again in a months time. She has asked me to have a think about putting my daughter on growth hormones, but I have no information on which to base any kind of decision, I have no idea what it entails in reality.

OP posts:
WanderinWomb · 02/03/2021 11:11

I'm just replying so you don't feel abandoned.

I think waiting to hear from the Society is good advice.

Not to say should ignore any replies here but keep a little pinch of salt at the ready.

This woman may be helpful , she has Turner's herself and is an advocate
mobile.twitter.com/XO83766320/status/1332669718637936643

picklemewalnuts · 02/03/2021 11:35

I just watched Celeste's video on special books for special kids. You might find that helpful, as well.

picklemewalnuts · 02/03/2021 11:35

Here

BlackeyedSusan · 02/03/2021 11:38

My friend had turners syndrome so I know a little about it. I have a different genetic condition, so I do recommend only getting information from reliable sources.

Picklypickles · 02/03/2021 13:53

Thank you for the replies. I have now been in touch with Arlene from the Turner syndrome Support Society, she was very nice and had lots of helpful advice and information. She is going to send me some information sheets and has told me about their YouTube Channel so that should all be helpful.

I think I'm still in a bit of shock regarding the news, trying to understand what it all means and then trying to explain it to my oh and then my parents. I hadn't been worried at all that dd's blood results would show anything unusual, I just thought she might have inherited her dads ADHD or Aspergers and that of course she was little because I'm little! Her little brother has his first assessment for ADHD/Autism next week too, so I feel like I'm looking at a future juggling hundreds of hospital appointments for them both.

OP posts:
vicky54321 · 19/05/2021 16:52

@Picklypickles - so glad to hear you have been able to speak with Arlene :) I'm 38 and have turners syndrome so happy to chat if you want to pm me.

shoeby · 14/07/2021 19:25

Hi @Picklypickles, hope you and your daughter are getting on okay. I have mosaic TS and just stumbled across your thread, very happy to chat if you want to PM me. The TS society are great, but from recollection were quite pro- being open about TS, which might suit some people, however my parents told very few people, which I was very grateful for as a teen and adult.

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