Amnio results reveal Mosaic Turner Syndrome - seeking support from parents of daughters with TS/MTS

[catgirl75]

Hello,
I am completely new to this, but am looking for advice/support/stories from parents who have found themselves in a similar situation to us. Our 19 week unborn daughter has just been diagnosed with Turner Syndrome (the Mosaic form). This showed up following an amnio, which we opted to have after receiving a high risk factor from our combined screening test. We have taken the news pretty badly, but are pretty sure we want to continue with the pregnancy - TS is not considered to be a disability, and whilst there are health risks associated (heart/kidney function), we do not feel as though our daughter cannot have a full and happy life. However, the uncertainty of exactly how severe her condition will be is proving difficult to come to terms with, as is the idea that she possibly will not be able to naturally conceive herself, in later life. I worry about how she will cope with this news, and how we will help her. Any words of advice/comfort/shared experience would be very welcome! Thank you all.

Sorry to hear your news - bump for your thread

I've just sent a text to a good friend whose daughter has TS. She's a MNer. Her dd is just brilliant and wasn't diagnosed until quite old actually.

Have you seen the ARC website (antenatal results and choices I think)?

can anyone refer you to genetics, i am sure they would give great advice

or Contact a Family?

Hello! Am mate of SOH.

My dd is 10 and was diagnosed at 7.5 years.

She is blardy fantastic. I pop with pride everytime i look at her

To look at her there are not really any distingushing factors apart from the fact she is mini. She has slight learning difficulties, wears hearing aids (just in last 5 weeks) she has a horse shoe shaped kidney and is hypermobile. She has wide feet and a high instep.

Apols but we are just searving lunch. Will be back after.

Please don't worry. Our daughter is full Turner's not the mosaic so your dd will in all potential be fine. The fertilty may not even be an issue for her.

Fire away with qustions and will come back later.

SOH has is excellent mate who has stayed with us and seen me through the whole lot. She will be fab at answering any questions too

Oh and PM me if you don't want to say stuff here.

Thank you all for your replies.

ShowofHands - thanks for your words and for contacting your friend. Found out about ARC just yesterday, and am planning to contact them this week.

largeginandtonic - thanks for getting in touch so quickly - I will definitely put some questions together and come back to you.

slartybartfast - we saw a genetic counsellor a few days back, and she was great and was able to offer a lot of reassurance on some aspects, but less so on the emotional side for us, which is partly why I'm trying other routes now. I had not heard of Contact a Family but will def. look into this.

catgirl, you'll be in shock atm but I think finding out the factual side of things is the best thing you can do. Because if you can see it in terms of what could happen, you can reassure yourself that they are things that have their own solutions.

Because Turners is a syndrome, not an illness. By which I mean that any of the resulting spectrum of issues that arise from it such as fertility problems or kidney issues or hearing loss can be treated in the same way that they would be treated for anybody else that has those particular problems. But the syndrome in itself tells you nothing else. Like what your little girl will like, what her laugh will sound like, what terrible music she'll listen to, a possible predilection for pink and sparkly. All of the complex things that go into making you who you are like your personality, your likes and dislikes, your relationships, your sense of humour, they are still up for debate. And that wonderful, complicated and unique mix that each person finds and adopts as their own, you'll just adore in your dd. And no syndrome will ever have anything to do with that.

My lovely friend lg&t's dd was diagnosed with TS on what was probably a day that will never, ever leave her. I would imagine that you feel grief for the child you don't have, worry, sadness, desperation. But it turns out that her wonderful dd is still the same girl she was the day, the week, the month and the years before diagnosis. And the resulting problems that TS causes can be tackled one by one but everything that makes her who she is was already there and nothing to do with any syndrome she might have been diagnosed with. She still sings with gusto that is more wonderful than the tunes she actually comes out with, she's still loud and bright and funny, she still rolls her eyes at her silly brothers and then joins in with them anyway. She is NOT her syndrome and it is not a syndrome that makes her the brilliant child she is.

I suppose what I'm trying to say in a bumbling fashion is that TS is a spectrum. You'll find your footing based on where your dd falls on that spectrum. And each thing that comes up will be one that you can tackle. But once you deal with each of those things, underneath it all you still have the amazing journey of finding out who your dd is. And I bet she'll be just cracking.

Forgive me a quiet sob at SOH' words You are wonderful chick.

Dd1 is brilliant. She has always been a loud gregarious little soul. Dominates the room and loves it. Nothing has changed.

The day we found out was a terrible shock. I just remember the consultant teling me and then kind of zoning out. I knew the basics and for a couple of weeks i refused to look at anything else. I could just see the bad. I thought she would change.

That of course is not what happened. We went through the barrage of tests they do, checking her heart, kidneys, reflexes, blood work, hearing, eyesight. It just went on and on. Each test came back well. I came out of the haze i was in.

DD has glue ear and had grommits before, she now wears hearing aids. That could be any child though. She also wears glasses but so do 4 of my children. She has a horseshoe shaped kidney and has had some pretty nasty kidney infections when she was younger but none for ages. Her heart scans were all clear. She takes Growth Hormone everyday and despite starting it so late in the day is responding well to treatment.

Her learning difficulties are managed well in school. If you met her you would never know. She is bright, witty and slightly terrifying. She is pink and sparkly, incredibly fashion concious and frequently slams her door in annoyance with the rest of us. Nothing out of the ordinary there.

Dd was just the same. We took each day and test as it came. It became the norm to us. We told family and her siblings. They were mostly really good. We refered them to the TSS (Turner's syndrome society)for the book they produce. It was very helpful. It can be exhausting explaining everything to everyone at first. The book did the job well.

There is such a broad range of symptoms that come with Turner's. Dd is incredibly lucky to have so few and be able to manage with what she does have. Mosaic Turner's has a much better prognosis.

I too worried over the fertilty issue. In fact i let it become much bigger than it really is. I have 7 children and was just devastated at the prospect of her not having her own children. I felt horribly guilty. It actually cropped up in converstaion quite easliy with her one day. She just said matter of factly 'I will adopt'. Her best friend is adpoted and she just see's it as fine. I was on the floor. There may come a time when she is more upset but we will cross that bridge when we come to it. A bit like everything else that happens.

Not just with dd but all the children. There is always something. Just because she has Turner's she is still just a kid.

You must be overwhelmed by it all at the moment. It is so much to take in and you have not even met your little girl yet.

Will be here to help as best i can. Hope i have not said anything to worry you. I honestly was a mess after i found out, it took me about 2 weeks before i was able to process anything. You are being fabulous by asking for information already. It really is the best wasy to go about it.

If you PM me i will send you my email if you would like.

Hi OP just popped in tell you that I did my general nurse trining with a girl who had TS. Apart from being quite short in stature she was just like the rest of us.
Good luck wih the rest of your pregnancy

SOH - I have read and re-read the messages from you and lg&t (who I have sent some questions to on the PM) and they have both made me smile and brought me much comfort.

The thing I will take most from your message is the idea that this will be one part of our wonderful daughter and not the whole of her. It has given me something to focus on and work towards - as you say, at the moment, we are still in quite a bit of shock, but once we get past that, there are so many positives to think about.

You have both reassured me further about the symptoms and treatment - I had thought the same, that each one, if and when it is experienced, can be dealt with - I guess I am just going through the fear of the unknown , because we just don't know which she will suffer from, and how severe they will be. I agree, and had also thought, that any of these symptoms could be experienced, perhaps in isolation, by any other woman. I think the fact that in TS/MTS, they could be experienced together, and have a name (!) makes them all the more scary - silly I know!

A big thank to both of you for taking the time to write and offer so much reassurance.

Thanks again to the others who have posted -all replies are very gratefully received!

My daughter is now 21yo, was diagnosed by amnio too. 45xo 46xx (mosaic)
It was good to know, because when issues came up, we knew what it was about. Like learning differences. Kyla was never special ed, but needed some accommodations.

She has a horseshoe shaped kidney that may function normally her whole life.

She has a gorgeous boyfriend I introduced them red hair, green eyes.

She has courage and tenacity -- great traits!!

Most of all, she snowboards. Here's a video she put together.

I never did a cartwheel my whole life!! Don't be surprised if your daughter does things you never did either!

I wasted so much time worrying. Time that I should have been celebrating!
Because my daughter is awesome!!!
Don't worry, worrying won't change anything anyway. You'll deal with things as they come up, just like everybody else.

Congratulations on your baby girl!!!

Kylas mom thank you so much for that She is clearly a fabulous lady. I hope my dd is as happy as Kyla is.

My dd has a horseshoe shaped kidney too. No issues so far! In fact she is unscathed by it all so far! A testatment to their fabulousness i think.

Can your Kyla have children? Please ignore if it is too personal.

It is so lovely to hear of a grown up TS girl doing so well. Will show my dd and she will be thrilled too.

Thankyou again

I have to be careful here as I don't want to out myself, but I know a girl with Turner's and she was diagnosed quite old as well.

There are physical symptoms in terms of appearance, but they are often extremely subtle, and pretty much unnoticeable to the 'untrained eye'. I can usually spot another Turner's child now, but it's often based on tiny things that others would not even notice, or find 'odd' at all! She looks just like any other teenage girl - pretty, happy, lively, and in the normal height range. She has known she is infertile for a very long time, so she is pragmatic about it, and when the time comes for her to want a family she won't have to waste years of 'trying' but can move straight to the other options.

She is pretty much as others have described - she is bright and capable and whilst he doesn't have SENs exactly, she does have quirks that need 'accommodating'. For example she has slight dyspraxic tendencies, can sometimes struggle to read others' body language (much like someone with Asperger's) and a slight inability to organise herself, so she requires a bit more support than most girls with her school work etc, but intellectually she is as capable as the next person.

She is 18, and slightly socially immature for her age, and where her peers may seem like cool confident pussy-cats, she can seem like an over-exhuberant puppy! But she goes from strength to strength every year she gets older. She is just starting to date boys, she loves going out clubbing, and goes to college. All the things you would expect of a girl her age. And she is a sweet sweet girl. She is great with small children and adults all find her charming - she just lacks confidence with her own peer group. Basically because she can be naive and has no guile or malice in her, and teenage girls can have a real bitch heirarchy thing going, and she finds it hard that to understand and deal with. But frankly, that can apply to girls without Turners!

She is very involved with the Turner's support group and she has made great friends there who understand exactly what she has gone through, and do not judge. Her mum has also made some fabulous friends there, and having other mums to talk to who have been in the same boat has helped her enormously.

She has had to have orthodontic work, grommets for hearing, had numerous bladder infections, struggled with bed wetting for years, all very common, but PERFECTLY MANAGEABLE, and not anything that marks her out to the rest of the world as having a disability or a syndrome. Most people just would not have a clue if no-one told them.

Sorry I just need to point out that she did struggle with bed wetting for years, but that stopped years ago, once her diagnosis and treatment were well underway - she's not still doing it!

Fellatio you just described my dd exactly. I mean to a T. It was quite scary but reassuring at the same time.

I am glad to hear that she is a happy girl and doing well It really is heartening to read that.

Oh I'm so glad. After I'd posted I felt abit presumptious as she is not my daughter. It felt as though perhaps I'm not entitled to have an opinion on something so personal, and I was worried I may have caused offence by being so honest.

Bump x

Hi,

I am a turner's syndrome mosaic in my late 30's. I was diagnosed very late at 11.

As SOH says there are a range of possible effects - for me the main one was short stature - I am 4'6" but otherwise I have none of the characteristic visible signs.

In terms of general health problems I get IBS (which is apparently not uncommon) and slight incontinence (not a hinderance) and have some issues with spacial awareness.

I was a bit of a tomboy growing up and very very sporty. I have always found it easier to get on with guys rather than girls.

It takes me slightly longer to 'get things' but once I have got them I have got them. I was lucky to have patient teachers (which helped a lot) but it hasn't held me back academically (I hold multiple degrees and speak several languages). I put that down to the the support of my family who treated me normally and to my determination to prove to myself and others that having TS was not a disability.

The infertility 'issue' wasn't an issue growing up as was informed at an early age with the support of my family.

The medical options have moved on a lot since I was first diagnosed and there are other non medical options too for having a family.

My husband and I have chosen embryo transfer (just in the TWW - fingers crossed) - an option that wasn't there when I was growing up.

Feel free to PM me if you would like any more info.

Hi, I am also new to this having come across this message board via google. I am 19 (+3) weeks pregnant with my first pregnancy and have just (yesterday) received a diagnosis of Mosaic Turners Syndrome for my daughter.

This diagnosis came about as a result of a 1 in 20 downs risk coming back on my downs screening test, this led to me having an amnio. The result says that the majority of babies seen with this pattern have a normal outcome to/at birth (I can't remember the exact wording as this bit was read to me on the phone and I can't read my handwriting now!). I have started the research and although its obviously not what I would want for my daughter, I am relieved that if she has to have something it is this and nothing far worse. Am I being naive in this relief? I have been having some other unrelated issues with this pregnancy but my Consultant was positive that none of the physical symptons of Turners have been seen on my scans so far (I've had 3) and said that the pregnancy was going well.

I am having my 20 week scan on Friday when the Consultant will look more in detail at this, so hopefully nothing concerning will come up. I have other things to worry about right now as I have a large hematoma which is causing me to have a lot of bleeding which is also being monitored and is expected, but is causing me to constantly worry about miscarriage. I am generally feeling ok about this diagnosis and feel that this just makes this little girl even more special.

It has helped me reading your posts so far so thank you for this. It is early days for me in getting my head around this but is there anything I can be doing now other than research to understand this more or prepare myself. I have been looking at the Turner Syndrome Support Society's website but are there any other sites/resources any one can recommend. So far the prognosis seems good but any advice on things to ask about or look out for as I'm going along with this pregnancy would be very much appreciated, as I'm struggling to focus on this with my other concerns about the bleeding at the moment.