Medical Advisers:
Nora Shannon - Consultant Clinical Geneticist
Dr U. MacFadyen - Consultant Paediatrician
S.O.F.T. U.K. was formed on the 22nd June 1990, and welcomes families affected by related disorders, and rare conditions for whom no other organisation exists.
S.O.F.T. U.K. provides support, assistance and information for:
- Families with newly diagnosed babies.
- Families caring for surviving children.
- Families experiencing the loss of a child.
- Families wanting another child.
S.O.F.T. U.K. Aims To:
- Promote good relationships with the medical profession and the media.
- Increase public and professional awareness of these syndromes.
The activities of S.O.F.T. U.K. include:
S.O.F.T. U.K. Information Pack including comprehensive FACTS FOR FAMILIES booklets provided free to parents on request: "Your Baby"; "Your Unborn Child".
S.O.F.T. U.K. Link List, a service linking families who wish to share common problems associated with care, grief, relationships, and bereavement.
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 affected, and Trisomy 18 affects 1 in 3000 births with three times as many girls affected. 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, (Trisomy 21).
On average one baby a day in the U.K., about 400 babies a year, are born with Trisomy 13 or 18.
Many families have been affected by these conditions without realising it. Up to half of all pregnancies miscarry, often before a woman realises she is pregnant, and one in five of confirmed pregnancies end naturally before twelve weeks. A high proportion of these spontaneous losses are caused by abnormal chromosomes.
Babies with the full Trisomy 13 or 18 may not survive pregnancy, or may have short lives and require specialised nursing, but some infants can be cared for at home, and may live longer than first predicted.
Related Disorders
The degree of the medical problems and disability can vary widely in children with a related disorder although they may have the same type of chromosome defect. This is because the genetic material that is extra or missing will be different in every case. Related disorders include translocations, deletions and mosaicism, and also holoprosencephaly. Children may be profoundly handicapped or much lesser affected, and several children with mosaicism or partial trisomy have entered mainstream education.
S.O.F.T. U.K. Trustees
- Jenny Robbins
- Christine Rose
- Nick Lingard
- Rachel Attwell
- Rachel Moon
- Rosemary Davies