Patau's and Edwards' Syndromes
Trisomy 13 was named Patau's Syndrome after the doctor who identified the chromosomes responsible in 1960, and trisomy 18 or Edwards' syndrome was named after Dr John Edwards for the same reason.
Trisomy 13 affects 1 in 4000 births with equal numbers of girls and boys, and trisomy 18 affects 1 in 3000 births with three times as many girls. Trisomy 13 and 18 births are as common as cystic fibrosis and more frequent than muscular dystrophy or neurofibromatosis, but compared to these famous genetic disorders few people have heard of trisomy 13 and 18.
Although trisomy 13 and 18 births are considered to be rare, together they number 1 in 1,800 pregnancies and they are the most common autosomal trisomies after Down's syndrome which affects about one baby in 700. Sex chromosome trisomies XXX/XXY/XYY are quite common, each with an incidence of approximately one in 1000. On average one baby a day, about 400 babies a year, is born with trisomy 13 or 18 in this country and 2000 are born each year in the United States of America.
"Katie survived for 9 days. She was born with two large holes in her heart; so she did not stand much chance of any life. Naturally we were all devastated, but knowing that she had such a poor quality of life made the pain a little easier to bear"
"Laura was rushed to SCBU and put on a ventilator. I was told she weighed 2lbs 10oz by the midwife and was sent a photo of her. She looked like a beautiful and perfect baby".
"Due to my anxiety and the suspicion of a small for dates baby I was admitted at 39 weeks for observation. I was monitored for three days; the baby showed signs of fetal distress due to mild contractions. An emergency caesarean was performed and Joanne was born weighing 3lbs 12oz. The only obvious abnormality was the corneal eye opacities. She also appeared to be very underdeveloped for a full term baby. 3 weeks later blood tests showed that Joanne had trisomy 18".
"Little Susan was delivered by caesarean section 5 weeks early and everyone expected her to survive only hours, possibly days. From the scan we also thought (quite wrongly) she was going to be horrendously disfigured. In hospital the goal posts kept moving. I felt in a bottomless pit, every time I began to pull myself up another piece of information on her condition would put me back down".
"I was happy and laughing right to the end of my labour when I finally gave birth to our son. Then the world stopped all I could see was our baby with a cleft lip. My husband says he will never forget my face. Each day another thing was found to be wrong with Ellis. Then at 5 days old his chromosome tests were complete. He had trisomy 13 and would not live long".
"When Jacqueline was born I thought the world was over. But then it became a real joy, knowing that I had been given a chance to look after this very special person. You always think it will not happen to you; but when it does it is amazing. That's when you realise how wonderful it can be".
"When we first realised Elliott had abnormal chromosomes, the extent of his problems were still unknown. All we knew was that we loved him desperately and would try to move heaven and earth to make his life as comfortable as possible".