Go to AnSWeR home page

AnSWeR logo - click to return to AnSWeR homepage

AnSWeR  > ConditionsTurner's Syndrome > Cases > Abigail > Mum's Interview page1

Interview with Abigail's Mum Jackie 01

Age at interview: 5
Sex: Female
Background:
Abigail is 5 years old and has Turner's syndrome. She was diagnosed with TS when her mum was 20 weeks pregnant as a result of routine scanning and subsequent diagnostic testing. When she was born she had feeding problems and had to have surgery to correct a heart defect at 2 days old. She is having Growth Hormone treatment and attends a mainstream school. She lives at home with her Mum.

The following is a transcript of the entire interview with Abigail's mum Jackie Williams.

image of Abigail sitting on a rock

 
Just tell me how old Abigail is and who else is in your family?
 

She's five and a half and it's just Abigail and me. My husband and I separated, but in the family there's Abi, myself and her father.

 
Go to the top of the page
 

And when did you find out that Abigail had Turner's?
 

Pre-natally. There was a scan, an antenatal scan done at 16 weeks and they found that the femur length was out of proportion with the rest of the body. They sent us for an in depth scan at Guy's, the results of which showed that there was a serious chromosome abnormality. They noticed certain physical things that were not looking quite right. There was a huge growth on the back of her neck. Her hands and feet looked extraordinarily large. Her limbs were shorter than they should have been and there was a heart defect. And they noticed all this from a scan at 20 weeks. From there they did a chromosome test using blood from the umbilical cord and from that they found out she had Turner's Syndrome. So it was a very trying time.

 
Go to the top of the page
 

And what was your reaction?
 

When I first found out that it could be serious, we were given three choices. None of which were Turner's Syndrome. We were told that the baby was either suffering from Edwards or Pato Syndrome which were basically lethal - the children just didn't live beyond birth, or the best we could hope for was Downs . We prayed for Downs Syndrome because that meant we could keep our baby and when the results came back they said well actually she's got Turner's Syndrome. And we said, well what is that? We don't know what that is. And there was only someone on hand who had very limited information about Turner's Syndrome. We found this out on Christmas Eve by the way and all the hospital lab technicians had gone home by then for Christmas holidays, so we were left in the dark really. We just had this very basic information about Turner's. I first found out that the main problems with the girls were that they were of short stature, which could be helped with growth hormone injection, but intelligence was across the board, so mentally they were not really affected. They had their fair share of problems but with help they could live normal lives. So at that point I was jumping up and down in the room, because we'd been given such dire information to start with. But I was worried of course. I was very concerned because she still had heart surgery to come and other problems which may follow, so it was worrying, very worrying. I think the worst I felt was not knowing what was wrong with the baby. To have this scan done and not know what it was and what was happening and having to wait five days for the results to come through. That was the longest five days of my life.

 
Go to the top of the page
 

And how did you feel when she was born?
 

I was elated when she was born, because I was always worried that I would miscarry and I really wanted this baby. I loved this baby, I hadn't seen this baby but I loved her (or him. I didn't know it was a girl initially, but I was elated when she was born. She was a good weight. She was slightly jaundiced but she had a good pair of lungs on her, so she was obviously quite strong, but I could only hold her for ten minutes and then she had to go down to the special baby care unit where she awaited heart surgery which took place two days later, so she couldn't eat or drink. She couldn't drink milk or be fed at all and she had all leads on her and you couldn't really cuddle her properly and that was very hard. And I think she suffered during those two days as well. I think she was hungry and she was lonely and that was very, very traumatic. Very upsetting. A lot of tears shed then.

 
Go to the top of the page
 

So what was it like waiting for heart surgery?
 

I cried a lot. I convinced myself that she wasn't going to come out of it. Even though they had said that there was a 90 % success rate, I thought that oh she'll be the 10 % that don't make it and I was just dead, dead scared of losing her, but she went in and the operation was five hours. It was extremely hard waiting and then I phoned down to say 'any news, any news?' and they said 'yes, she's just coming out, she's coming into intensive care' and like that was it, I just rushed down there to see her. She did look a bit of a sight. Her face was covered with head gear because they needed to strap the breathing apparatus on her head to keep it in place. Her face was all puffy from where it had been strapped and she obviously had the wound where the heart surgery had taken place. Leads and tubes everywhere going in and out of every part of the body which was quite harrowing to look at. But, you know, she made it, she got there. She was in ITU for 9 days but the signs were that she was making progress every day and on the ninth day she went up to the heart ward and that's when they said "if she goes up to the children's heart ward, she's made it." Meaning if she gets there, you know, she's on her way. And, so I think it was four weeks later once we established oral feeding we were able to take her home. And more problems started there.

 
Go to the top of the page
 


     
page 1 | 2 | 3
next button


Last update: 13 October, 2005 11:57 AM


Valid HTML 4.01! Valid CSS!