So when I was a little girl my parents had a beautiful baby girl who was born with Edwards syndrome. My little sister was beautiful and I will love her for ever however just 9 months after her birth she passed away.
So out of nerves with the chromosome disorder in my family me and my husband paid for a harmony blood test to check on our little one. I've just had the phone call tonight with results.
Our baby had a gender specific chromosome defect. We didn't want to know the gender of our baby. We wanted a surprise. But now we know we are expecting a girl with xxx syndrome. I have no idea what this is and we are both so scared and upset that there is anything wrong with our baby.
We have been referred for further testing at the hospital and counselling.
So tearful tonight. Not sure how to feel.
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ch319
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Oh gosh! I'm so sorry you're going through such a stressful time. I'll be praying that if she does have a defect that it can be treated. Hopefully your testing at the hospital will give you some clearer answers. Sending you both a big hug. xxx
Hi Hun. So I don't know if you've dared google it but I just did and it doesn't look too awful my dear. If it's confirmed, your little one may be a little taller than average and may find learning a little more difficult but not severely. Most importantly, it said girls grow into women as part of normal society which is really positive I think. I hope you don't mind me mentioning this but I wanted to reassure you that even if it is confirmed, your little one can expect to live a normal life. xxx
I had this test too and remember the company telling me in advance about the result you have received. They did also say that most people (if they don't have the harmony test ) would never know they have this chromosome disorder and that it wasn't anywhere near as tough as the other tests they are looking for. I hope your hospital can support you and help you see the best in this circumstance as of course it's upsetting but I'm sure your baby girl will grow up to be perfect, and taller than her friends! X
Hi Ch319,
I'm so sorry to read your post and the turmoil.
I have no knowledge of the condition but I just want to send you my love and give you a massive cuddle.
Hopefully the tests and further information is not anything to fear.
Thank you. I said to my oh when we found out we were pg if it was a girl I would but those frilly knickers to cover a nappy so she's now nicknamed frilly knickers
I'm so sorry you have had scary news, I did have a little look online because it sounds similar to a condition my cousin has. My cousin has Turner Sydrome which is where a girl only has one x chromosome rather than the two a female should have. Triple x means there are 3 rather than the normal 2. When you read about Turner syndrome, it sounds scary but my cousin is amazing and you would never know she has it. Symptoms are being very short, having flat spoon shaped nails, having a thick neck, lazy eye, learning difficulties, the list goes on. She has none of them really and is attractive and intelligent. She's now 35 and had trouble conceiving because of the condition which is why she found out, but does have a gorgeous baby boy now through ivf.
I'm just saying this because I think within conditions like this there are a range of degrees of severity, and I'm sure that the occurrence of a severe case will be pretty unlikely so that would be questions for your counselling.
I hope what I've said isn't unhelpful. And I'm hoping for you your lovely girl is just fine 😊 Which I'm sure she will be!
Thank you for this. It really did help. I gave in to temptation last night and googled. And it could be a case of she has nothing or she has everything. I think with how much we all have to go through just to conceive any little knock or scare is amplified.
My morning sickness made a reappearance today and I am just hoping it's stress related as I was enjoying my time away from the toilet!
What a shock and no doubt given your experiences from your beautiful sister this had been all the more worrying. Nothing can take away the fear and grief you have right now. It will ease with more knowledge and I'm sure the genetic counselling and further tests are likely to help with this. I hope you don't have to wait long for that. Thinking of you x
Thank you. It was more the shock of the phone call and not having any idea what the syndrome was. But I'm much calmer today and I think all will be fine (I hope all will be fine) xx
It is very very tough going through the Harmony test and getting a result that is anything other than 'normal'. We've been through it too, and I won't lie, our pregnancy has been pretty stressful as a result. I'm now 33 weeks and our little girl has Down Syndrome and a congenital heart defect. It is terrifying in many ways, but having had time to come to terms with it, we are very excited to meet her and and know we will find the strength to support her through the heart surgery she will need in her first year of life. I understand your headline completely because that is exactly how we felt. But since then we have had so much support from family, friends and new friends in the Down Syndrome community and from the medical staff in our specialist heart Unit that we know we are not alone and we will be ok in our new family. Sending you positive energy to cope with whatever lies ahead for you and don't worry, there will be love and support for you and your daughter no matter what her chromosomal condition brings xx
Oh bless I am so inspired and energised by what you have written. I know how much we all have had to go through to get to this point. I have always said I don't care what gender I have or how many so long as they are healthy. And by all accounts she will be. I just want her to have the best life possible as I'm sure you do with your little one. Your not many weeks of meeting your little one now you must be excited and I'm sure nervous too. I really hooe you get the best care possible for you both and so pleased you have had lots of love and support xx
Oh Hun, so sorry to hear this! I hope that u get clearer answers. Dry soon and that it is something that can be dealt with and resolved for you and your child! Big hugs xxx
Oh dear . It's d most difficult times. But believe me I know a friend's brother who had this genetic problem while he was born. His initial years were a bit difficult but gradual he went to specific school and he turned out very smart and now working . So it's all going to be fine my dear. Just do t loose hope . Xxxx
Well great news the very efficient healthcare service in Devon has managed to get me an appointment today with the specialist midwife and genetics consultant. Will get my questions answered quicker than expected!
I had a blood test to test me for chromosome disorders that's getting sent off to Bristol tomorrow. Baby girl will have bloods taken at birth. We are waiting for an appointment now with a geneticist at Exeter in the next month and they will do kidney testing at my 20 weeks scan as she could have kidney problems / seizures / learning difficulties. So the only thing they can test for in a scan is the kidney bit. But I have to say everyone has been so caring and quick to sort stuff I really can't complain. Xx
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