Value of genetic counselling: a parent's viewBMJ 2001; 322 doi: https://doi.org/10.1136/bmj.322.7293.1071 (Published 28 April 2001) Cite this as: BMJ 2001;322:1071
When my daughter Kylie was born on a sunny June afternoon, I was delighted. She was a beautiful baby girl. Following emergency surgery after an earlier miscarriage, I had not been sure if I would ever have another baby, so this was a special time for the family. I noticed that her hands and feet were puffy and swollen. She was also a grey colour. I was told that this was because of poor circulation in the womb. During the first hours of her life the swelling got worse. Apaediatrician said he wanted to do some tests.
The next day all the tests were complete and my husband and I went to see the consultant, who said Kylie had Turner's syndrome. We were confused; we had never heard of Turner's syndrome. To discover that your child has a chromosomal abnormality is traumatic enough, but when it is something you have never heard of it is even worse. Kylie was transferred to the baby care unit because of feeding difficulties. My husband was at home and I was in a ward without my baby. It still brings tears to my eyes when I remember the total isolation and devastation I felt.
Kylie and I were discharged a week later and we had regular check ups with the paediatrician. When Kylie was six weeks old the doctor gave me the address of a support group. After six weeks of waiting, it was such a relief to find that there was such a group. When I read the booklet that I was sent, a lot of things made more sense. I still had many questions that no one seemed able to answer. Why me? Did I do something wrong? Could I have done something to prevent this happening? If I had other children would they have Turner's syndrome?
During the first few months of Kylie's life I feel I wasted so much time feeling distressed and that I missed out on a lot of the joy of being a new mum. Hospital staff were as helpful as they could be, but they never seemed to have enough time to talk to me.
Because I kept asking questions it was suggested that I see a genetic counsellor. An appointment was made, and when the letter arrived it was friendly and unthreatening, asking us to be prepared to answer questions on our family history if possible and that the appointment would be at least an hour long. So we looked forward to attending the appointment and learning the answers to the many questions that we had.
Hospital staff were helpful, but they never seemed to have enough time to talk
We decided to travel south to attend a conference about Turner's syndrome and although that proved to be a helpful weekend, I felt the turning point was after our genetic counselling. Michael Connor, who was the head of the genetic department and who counselled us, gave a full explanation of how chromosomes work, what is thought to happen in Turner's syndrome, and an explanation of the difference between classic and mosaic Turner's syndrome. He took time to answer all our questions and concerns. Every point he made was clear and he was honest when he did not know.
He explained that we were at no increased risk of having another baby with Turner's syndrome. He followed the appointment with a written report on all that was said during the appointment. We found that particularly useful to refer back to. When I told him that I had attended a support group meeting in Birmingham, and was disappointed that there was no support in Scotland, he suggested that I start something in Scotland and he said that he would help.
I took him at his word and we held the first Scottish meeting when Kylie was eight months old. Thirteen years on the Scottish group continues to meet four times a year. Professor Connor spoke at our 10th anniversary meeting, where Kylie was able to answer questions about her chromosomes. Her understanding of her condition has come from the understanding that we gained from our genetic counselling. Because of my personal experience I feel strongly that if patients are diagnosed as having Turner's syndrome or indeed any genetic condition, they should be referred for genetic counselling. It should make all the difference to them and their families. I also speak from the experience of talking to members of the Turner Syndrome Support Society of which I am the chairwoman. When they phone me and say that they do not understand Turner's syndrome, I always tell them how I benefited from genetic counselling and they might too.
Parents who receive an in utero diagnosis of Turner's syndrome have an even greater need to see a geneticist. This was aptly described in a previous BMJ article (BMJ 2000;322:463). I am concerned that babies with Turner's syndrome are possibly being aborted as a result of inadequate information being given to parents. Are they making an informed choice or are they terminating the pregnancy because they are being given inaccurate, out of date information?
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