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Your Baby

Every family is unique. What may be right for one child or family may not be right for another and parents can use these shared memories as a basis for discussion between themselves and their medical advisers. 

SOFT does not recommend particular methods of treatment, and new treatments must never be started or existing treatment changed without consulting your doctors. SOFT does not represent any political or religious groups.

You can read a selection of chapters from SOFT UK's Your Baby below or download a copy of the complete booklet. Contact SOFT if there is anything you would like to talk about.

Introduction

SOFT UK, the Support Organisation for trisomy 13/18 and related disorders, was founded in June 1990 by Jenny Robbins and Christine Rose.

Chromosome defects, what are they?

There are 22 pairs of chromosomes, numbered 1-22 in order of size, and a pair of sex chromosomes, XX in females and XY in males, making a total of 46 chromosomes in each normal human cell. 

Trisomy

The tri in the word trisomy means three. In each cell there is one set of three identical chromosomes among the normal pairs.

Patau and Edwards Syndrome

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.

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 chromosome defect. 

Genetic Information

Genetics is the study of human cells and a Clinical Geneticist will interpret the results of chromosome tests taken from blood, skin, bone marrow, or connective tissue.

Letter for Professionals

This letter is for colleagues who have to face the distress of telling parents their longed for baby has a serious condition such as trisomy 13 or 18.

Birth of a Baby

There are various physical signs that may alert the midwives and doctors. Babies with a chromosomal abnormality often have a low birth weight, low set ears, heart and eye defects and unusual palm and fingertip patterns.

Coping with Feeding Difficulties

Many parts of the body do not develop properly when there is a chromosome abnormality and babies suffer from 'failure to thrive' and feeding difficulties causing slow growth and low weight gains.

Apnoea

Apnoea is breath holding and happens more frequently in early infancy, especially when a baby has trisomy 13. The baby stops breathing without warning and becomes limp and blue. Breathing usually starts again after a few moments which will seem like a lifetime. Parents may consider the use of breathing monitors and learning simple resuscitation.