Just bee told that our baby has Turner's Syndrome.(20 Posts)
Hi. I had a CVS just over 2 weeks ago after coming back as having a 1:5 risk for Downs and 1:50 risk for Edwards. The first set of results came back negative, and we breathed a great sigh of relief, and naively thought that we were pretty much in the clear.
Today we have been told the devastating news that our baby has Turner's Syndrome. Ring X (with a large ring) apparently.
We are seeing the geneticist tomorrow. I don't know where to start with regards to asking him questions etc. I know a small amount about this condition (but mainly what I have found on the internet), and to be honest from what I have seen, my gut reaction is to potentially terminate.
I have tears streaming down my face as I write this. I never thought I'd have to make a decision like this. Does anyone have any experience of this diagnosis?
Have you looked at the Turners Society?
I think this is the address: www.tss.org.uk/
I nannied for a little girl with this condition for a few weeks, as she didn't cope well with nursery, but that's all the experience I have really.
It's so difficult. Please look after yourself...I can't imagine having to make that decision.
I wondered if it would be useful to add what I knew about the little girl?
She was three, and was around the standard height for a three year old. Her mum mentioned that she'd stopped growing recently, so she was about to start growth hormones. She had diabetes, but was very good with the medications, because she was very used to it. I know that she broke bones quite often, and easily, but she seemed happy. She did all the normal 3 year old things...running around, drawing, tantrumming, getting food everywhere.
Medically, I was told to look out for signs of an ear infection, as she had damaged hearing due to their frequencies. We didn't go swimming for that reason. She was supposed to be careful running, and we had elbow exercises from a physiotherapist because they hurt her a bit.
I was working with her because her mum had recently given birth to another baby girl, but the three year old (I don't want to name her) hadn't liked nursery at all. The mum needed some support with getting everything under control for those first few months, and she struggled a bit with the newborn not having the condition - it highlighted the differences, I think. We had a few long conversations about her future, IVF, infertility, hormones at school, etc.
She is a wonderful little girl, she still sends me pictures in the post. I hope this helps a bit.
I'm so sorry. I have no experience of Turners but couldn't read and run because I did terminate for another condition after amnio so have a tiny amount of experience of what you are going through. I didn't actually have to make a decision though - I knew immediately what I wanted to do. More difficult if you are not sure.
I hope you get some good advice to help you with your decision but whatever you do - it's your decision and you must be free to face every option.
Wishing you strength for the days ahead as you work out what to do.
Gosh I grew up with a girl with Turners syndrome. She was small but fine (and flippin feisty at secondary, you wouldn't mess with her!) . Tracey (changed to protect the innocent) had a few medical problems (IIRC she had a kidney op) but she did fine- the name will tell you the generation!
I know a bit about Turners and in many cases it's a mild condition that doesn't impair ability to live independently or have a very good quality of life.
I would terminate for almost any other chromosome defect, but not Turner's unless it was clear the fetus had a severe heart problem/other severe physical abnormalities . It's about the only chromosome defect that doesn't frighten me at all.
There was a poster on MN whose DD has Turners. Her condition was mild enough that she wasn't diagnosed until she was past toddlerhood. <deliberately vague>
99% of babies with Turner's have the pregnancy end in miscarriage within the first trimester, so to have got to this stage is pretty remarkable, tbh.
a friends dd has turners (is that the right turn of phrase?) she is tiny in size but huge in personality she seems to have passed all the tests with flying colours, some issues but as far as im aware nothing major. said friend is sometimes on mn.
its a difficult decision to make
hi you may also want to contact ARC (Antenatal results and choices) www.arc-uk.org/ or Helpline: 0845 077 2290 or 0207 713 7486 from a mobile phone as they can help.
I've had to TFMR but not Turners- will admit I know nothing about it- but can fully recommend the support ARC offer.
Have you had your meeting with the geneticist? Hoping you've had more information which makes your decision easier.
I remember her Lougle. I am sorry you're facing this, OP. I don't know much about it but didn't want to read and run.
Good luck whatever you decide to do x
Message withdrawn at poster's request.
Thanks to everyone.
We had our appointment with the geneticist today. Apparently we have a very rare variation of turners- ring chromosome x (I think), with a large ring.
From what we can gather, it's very, very rare but likely to present itself as classic (or possibly more severe) turners.
On balance, bearing in mind the increased risk of late miscarriage/stillbirth that we would face, the lifetime of potential problems for the child and the impact that this will have on our 3.5 yr old daughter and us as a family, we have made the heartbreaking decision to terminate.
Thanks for replies.
Patbutchers sorry you've had to make such an awful decision- either option is a terribly hard route to choose I'm sure. Hope all goes as well as it possibly can under the circumstances.
patbutchers, I'm so sorry. As I mentioned, I've been through similar. Feel free to pm me on this if it would help. Either way, best wishes and courage.
I went through a similar situation about a year ago....and I have a happy ending to share. We also got the same diagnosis, thinking our baby may have had Edwards Syndrome, got the all clear, we thought, then 3 week later told she had Turner's Syndrome. We were devestated. She had a serious heart defect too and fluid on her heart which was increasing and decreasing throughout the pregnancy. We had scans every 2 weeks and we were never sure if she would even make it full term. She did make it and she had heart surgery at 5 days old, which was a great success. She is one year old next week and is very petite but has a massive personality. She has some minor other health issues but I anticipate she will have a normal life. Once we knew it was Turners we never considered termination and i am so glad we stuck with it. It was a horrible pregnancy, not knowing how it might all turn out. You need to make the decision that is right for you but please read a bit more and see that there are many girls with Turners Syndrome who lead happy and healthy lives. It seems to me that those little babies who make it into this world are tough little fighters! Good luck to you. I wish you could meet my little bundle of joy, she's just gorgeous. XX
Patbutchers, We sadly ended a pregnancy back in April 2011, after finding out our baby had Turner's Syndrome and other complications. We did a huge amount of research both while we were making our decision but also afterwards. From what we read and were told, we understood that, IF the baby were to survive to term (and this seemed to be statistically very unlikely), the condition would fall within a very wide spectrum of symptoms and health problems. Whereas ours was "classic" Turner's (monoX), we know from our research, our geneticist and from personal experience of a close friend, that the ring chromosome brings a host of additional difficulties.
My heart goes out to you, it's such an incredibly difficult thing to go through. If you would like to talk to me, please send me a private message. We felt very alone and quite isolated when we went through this, despite the excellent professional support we received. I would also second what CajaDeLaMemoria said about ARC. They are incredibly kind and supportive and I still read their forum two years on.
Our thoughts are with you.
Thanks, especially Beryl. I may well pm you in a few days. Thank you so much.
I think one of the big difficulties with this particular diagnosis is the variability..and the lack of thorough longitudinal research.
However, we have also come to the conclusion that the vast majority of babies which survive and then go on to lead relatively normal lives have some degree of mosaicism (so a percentage of normal xx cells). Our baby does not. It has 45X/45X(r)- meaning that the best case is that every cell in the body is affected, and therefore will present as (full on) 'normal' Turners, the worst case is that it will present as 'ring' Turners.
I'm glad for those who are managing to successfully deal with this syndrome. However, after much research and soul searching, continuing with this pregnancy is not a viable long term option for us and our circumstances.
Pat you are incredibly brave. Take care of yourself. You and your partner have to make the best decision for yourselves based on what you know now. You have no crystal ball. Never feel you have to justify this hard and horrible decision.
I am sorry for your loss. I have a girl with turner syndrome. She is beautiful. Looks beautiful does not have any physical problems and is on grow hormone. She has an amazing personality and is terrible at maths but that's all. I have seen many girls with Turner Syndrome and they live normal lives. Special children come to special people. In a group of 100 pregnant women carrying babies with Turner Syndrome only one baby of the 100 survives, that is amazing. There is a lack of information about the condition and the babies are paying the price. Mosaicism does not mean they are more normal (this was said by the specialist). My girl has full Turner. Visit tss.org.uk/index.php/what fro more details.
I realise this is an old thread but wanted to post too in case anyone in a similar situation to op is browsing. Turner's syndrome has a whole spectrum.
A good friend of mine has the condition, and excelled academically and completed university to gain a highly respected degree. She is not mosaic.
She is a wonderful person with lots of friends, and doing very well in life. Sure, she is a bit on the short side, but not abnormally so, and you wouldn't guess meeting her that she had any kind of chromosomal abnormality.
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