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Children's health

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Original poster

Turner syndrome.

37 replies

lollyheart · 29/10/2010 16:43

Can anyone give me some advice on this please. I have looked it up on the net but was hoping for some real life experience.

I went to see a friend today who i have'nt seen for a while, Her dd has ts and she thought my dd looked like she may also have it.

I am trying not to worry, but it is hard not to, I have a gp app on monday.

Tia.

OP posts:

strawberrycake · 29/10/2010 18:45

I have taught a child with the syndrome. How old is your dd and why does your friend think this?

I ask as it's pretty rare and in many cases picked up at a young age. It seems odd she's worrying you with little facts.

DizzyIzzyLizzy · 29/10/2010 18:53

Hi Lollyheart

My DD has Turner Syndrome.

Ask me anything, I really don't mind!

CarGirl · 29/10/2010 18:55

There is a turners syndrome support group - I'm sure they list the facial/physical features that a girl with TS may have.

CarGirl · 29/10/2010 18:57

Here is a link to the list of possible characteristics (most TS don't have all of them)

www.tss.org.uk/index.php/what-is-ts

DizzyIzzyLizzy · 29/10/2010 19:15

Lollyheart,

Can I just add that although the internet is 'useful' for obtaining information. Not everything you will read about Turner Syndrome is true. There is no 'typical' look to a girl with TS and, as CarGirl said, the features and characteristics are not always present on every girl.

TS is a genetic condition which is diagnosed through Karyotype test and not through general observation.

Is there anything that you think could point to TS in your daughter?

CarGirl · 29/10/2010 19:18

When I've looked at photos with girls' with TS I think most of them look normal/non-identifyable and isn't it common/normal for this to be discovered at the 22 week scan???

DizzyIzzyLizzy · 29/10/2010 19:36

All girls with TS that I have been privileged to meet all look non-identiyable that is true, but the internet does tend to show pictures of worst possible cases.

And no it isn't always detected that early. My daughter was diagnosed whilst still in the womb but it is more common for girls to be diagnosed at the age of around 5, at the age of 13 or when you would expect the onset of puberty or even in later life when experiencing difficulty in conceiving.

CarGirl · 29/10/2010 19:54

The only TS I know has all the characteristics and is clearly very unusual in that respect, only other family I know ended the pregnancy having been told the baby would be deaf and blind - I have never told them contrary tbh.

Presumably those more severely affected are picked up on scanned and those less so at 5 and less again at 13 and presumably some babies don't survive pregnancy due to natural causes.

DizzyIzzyLizzy · 29/10/2010 20:05

The statistics when it comes to TS are that 95% of girls will die before they were born thus making only 5% survival to birth.

My DH and I were told in no uncertain terms at our 20 week scan that the 'best' idea for us would be to terminate the pregnancy because the outcome could not be guaranteed.

The general medical profession do not know an awful lot about TS. There are only, it appears, a handful of people that know about it. My DH and I have been shocked at the number of doctors and nurses that we have had to explain her condition to because they literally have no idea.

I also don't mind sharing with anyone that my DD is perfect (not being biased ). To think what we would have missed out on if we had listened to the midwife!

CarGirl · 29/10/2010 20:11

I am really horrified at the advice dished out routinely if it is picked up on the scan, the only thing certain is that TS means you are "sterile" (is that right), you still have a womb so can go IVF or adoption - other than that it's uncertain but isn't it very rare for a TS sufferer to have all the characteristics that make day to day life difficult ie. severe eyesight and hearing difficulties?

I really don't like this push to get people to terminate on worse case scenarios

Purplefan · 29/10/2010 20:25

I am currently 20 weeks pregnant and was told at 12 weeks scan that our child has a condition that is incompatible with life! [hshock]
We went on to have a CVS and discovered that we are having a daughter with turners syndrome. We have spoken with lots of professionals and been given lots of statistics and although it seemed that everyone was painting a bleak outlook.. we decided to give our little girl a chance.

So far, all scans are showing positive signs and we are continuing with a positive outlook. Don't believe everything you read or see on the internet.

Bit shocked that your friend would suggest this to you, have you noticed anything that would give you cause for concern?

DizzyIzzyLizzy You sound like the person I needed to talk to a good few weeks back when we first started going through this!

DizzyIzzyLizzy · 29/10/2010 20:27

You and me both CarGirl. When we had our scan the sonographer wouldn't even tell me whether it was a boy or a girl because 'she didn't think there was much point'.

It does all depend on the individual as to whether they are able to have children. IVF is not always an option but adoption is definitely an option. Some girls may even have one ovary.

As far as I know hearing difficulties and severe eyesight are not something that goes hand in hand with the syndrome. TS girls are more prone to ENT infections though. The most serious condition linked with TS would be the varying heart and kidney conditions.

CarGirl · 29/10/2010 20:34

The hearing/sight thing is apparantly

?Hearing problems
?Myopia [short sightedness]

not exactly incompatible with life!

Purplefan my friend's dd is an extreme example, one of the TS experts is amazed that she didn't die inutero - she does have SEN but they are not all due to her TS

I hope it goes well with your pregnancy and are encouraged that many/most TS sufferes lead "normal" and full lives rather than the bleak outlook you were given. The statistics are really skewed because termination is the recommended course of action and if you find out at your 22 week scan you don't have much time to think through your decision and do lots of research.

DizzyIzzyLizzy · 29/10/2010 20:44

Sorry CarGirl when you said eyesight and hearing I was thinking in their most extreme forms but as you say neither problems listed are incompatible with life!

Purplefan if I'd have seen your original posts then I would have offered some advice. With our LO the initial scan at 20 weeks was an awful outlook but as we went further the signs were really encouraging.

Have they scheduled any more tests for you? How did it become apparent? Did they see something in your scan?

pooter · 29/10/2010 20:46

I met a girl with TS on holiday once. It was a holiday trekking through Norway Sweden and Finland above the arctic circle. She said she had to be careful of her heart and kidneys but it didn't seem to stop her doing anything at all! You would not have known anything was amiss to look at her. Maybe on the small side, but that's all without doing a karyotype!

I think your friend's comment is a bit odd. Presumably you had no concerns before her comment and now you are really worried. go to your GP and ask for a karyotype to be carried out if you are that worried about it - but very at your friend. Does she have x-ray microscopic vision?

CarGirl · 29/10/2010 20:47

My acquaintenance who terminated were told "deaf & blind" - isn't the same as hearing problems and short sightedness as a possibility

DizzyIzzyLizzy · 29/10/2010 20:55

CarGirl there is a petition you can sign to ask for more education for health professionals for TS due to their lack of knowledge. I bet your friends would be devestated to realise the ignorance of nurses and doctors.

pooter all TS girls are slightly smaller than normal (I hate that word because it can not be defined). TS girls average at 5 foot when in adulthood (hardly small I know). A few of the girls I have met have had heart surgery but as you say, it doesn't stop them doing anything.

CarGirl · 29/10/2010 20:56

Where is the petition could pass it around

DizzyIzzyLizzy · 29/10/2010 20:56

Will try to link you to it [hgrin]

DizzyIzzyLizzy · 29/10/2010 20:59

Just found it but it has already been submitted, sorry

Cazwa · 29/10/2010 20:59

My 8 year old niece has turners syndrome and is doing great. She has pretty much all the characteristics of a TS girl, does look slightly different but I wouldn't change her for anything. She is FAB!

DizzyIzzyLizzy · 29/10/2010 21:02

Glad to hear that Cazwa. It's so lovely for her to have your support

Elibean · 29/10/2010 21:02

Not relevent to OP, but re challenging medical misinformation...one of my close friends has a ds with the male version of TS (I forget the name ) and was told all sorts. She'd been talked into a termination once before, and then had a dd with SEN for different reasons, and this time followed her heart.

Her little boy is gorgeous, 7 years old and bright as a button. It does make me fume to think about the advice she was given. Any petition linked here I will chase up and sign!

Elibean · 29/10/2010 21:02

X-post! Ah well...hopefully it will have an impact then...

DizzyIzzyLizzy · 29/10/2010 21:11

Elibean I too am very angry about the treatment given to expectant parents who's scan do not show what some button pusher deems as normal!

I honestly thought that I was alone in the treatment I had received but it's becoming fast apparent that this is happening to other poor parents too

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