 | SOFT: Support Organisation For Trisomy 13 & 18 and Related Disorders |
by Dr I D Young, Consultant Clinical GeneticistPatau's and Edwards' Syndromes Trisomy 13 was named Patau's Syndrome after the doctor who identified the
chromosomes responsible in 1960. Likewise, trisomy 18 was named Edwards'
syndrome after Dr John Edwards. 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, is 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 is 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 main-stream education. SOFT SOFT was formed on 22nd June 1990, and welcomes families affected by
related disorders, and rare conditions for whom no other organisation exists.
SOFT provides support, assistance and information for families: - after a prenatal diagnosis
- with newly diagnosed babies
- caring for surviving children
- experiencing the loss of a child
- wanting another child
SOFT aims to: - promote good relationships with the medical profession and the media
- increase public and professional awareness of these syndromes
Funding is urgently needed to continue to: - print and distribute SOFT booklets and information packs for families
- produce regular SOFT newsletters which reflect the experiences and views of
members affected by these syndromes
- produce specialist SOFT leaflets as requested by members on aspects of
parenting and rare conditions
- distribute SOFT leaflets publicising the support available for parents
- support and link parents who wish to share common experiences through SOFT
Link List and the annual SOFT conference
Local organisations may give grants, and SOFT is happy to advise on ways to
raise money. The officers of SOFT are not paid, and any contributions are
received with grateful thanks and put to good use. Publications and services The organisation provides an information pack including a comprehensive
booklet, Facts For Families, provided free to parents on request. These
booklets fulfil a desperate need, presenting practical and positive information
in a sensitive way. Prior to these books, the only details available about
defects of chromosomes 13 or 18 were clinical papers. "SOFT Cares" are specialist leaflets dealing with heart defects,
the effect of bereavement on brothers and sisters, tube feeding a baby at home,
reflux vomiting, weaning, eye care, and prenatal diagnosis. Additional
pamphlets are produced, as needed, for parents feeling isolated by having a
child with a rare condition for which no support group or caring literature
exists. Parents can use the shared experiences in SOFT publications as a basis for
discussion between themselves and their medical advisers. What is right for one
couple is not necessarily right for another, and families need to be able to
make decisions based on an informed choice. SOFT Link List is a service linking families who wish to share common
problems associated with care, grief, relationships, and bereavement.
SOFT (UK) (Support For Trisomy 13/18 and Related Disorders)
48 Froggatts Ride
Sutton Coldfield
B76 2TQ  0121 351 3122 (Helpline)
 01989 567480
 http://www.soft.org.uk
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