Today I want to talk about a case study of a mother whose daughter has Down’s Syndrome. She adds that in order to protect herself from attempts to persuade her to have an abortion she made sure her medical records clearly stated she did not wish to be screened.
But doctors still persisted and asked if she wanted the test after they found out her daughter Scarlett had Down’s Syndrome. When Emma was 28 and a half weeks pregnant she spoke to a BBC documentary. In her own words, Emma said: ‘The GP told me they will want to screen me nice and early to make sure this baby doesn’t also have it.
‘It is hurtful, I love Scarlett, she’s amazing. Why wouldn’t I want another child exactly like her? Read more……
Down’s syndrome, also known as Down syndrome, is a genetic condition that typically causes some level of learning disability and characteristic physical features.
Around 775 babies are born with the condition each year in England and Wales.
Many babies born with Down’s syndrome are diagnosed with the condition after birth and are likely to have:
- reduced muscle tone leading to floppiness (hypotonia)
- eyes that slant upwards and outwards
- a small mouth with a protruding tongue
- a flat back of the head
- below-average weight and length at birth, although children with Down’s syndrome share some common physical characteristics, they do not all look the same.
A child with Down’s syndrome will look more like their mother, father or other family members than other children with the syndrome.People with Down’s syndrome also vary in personality and ability. Everyone born with Down’s syndrome will have a degree of learning disability, but the level of disability will be different for each individual.Read more about the characteristics of Down’s syndrome.
Screening for Down’s syndrome
In some cases, babies with the condition are identified before birth as a result of screening for Down’s syndrome.
Screening tests can’t tell you for definite if your baby has Down’s syndrome, but they can tell you how likely it is. If screening suggests there is a chance your baby does have Down’s syndrome, further tests can be carried out during pregnancy to confirm it.
If testing indicates your child will be born with Down’s syndrome, you should be offered genetic counseling to allow you and your partner to discuss the impact of the diagnosis.
You may also be offered an appointment to meet a doctor or other health professional who works with children with Down’s syndrome, who can also tell you more about the condition and answer any questions you may have.
Read more about diagnosing Down’s syndrome.
What causes Down’s syndrome?
Down’s syndrome is caused by the presence of an extra copy of chromosome 21 in a baby’s cells.
In the vast majority of cases, this isn’t inherited and is simply the result of a one-off genetic change in the sperm or egg.
There is a small chance of having a child with Down’s syndrome with every pregnancy, but the likelihood increases with the age of the mother. For example, a woman who is 20 has about a 1 in 1,500 chance of having a baby with the condition, while a woman who is 40 has a 1 in 100 chance.
There is no evidence that anything done before or during pregnancy increases or decreases the chance of having a child with Down’s syndrome. Read more about the causes of Down’s syndrome.
Life with Down’s syndrome
Although there is no “cure” for Down’s syndrome, there are ways to help children with the condition develop into healthy and fulfilled individuals who are able to achieve the level of independence right for them. This includes:
- access to good healthcare, including a range of different specialists
- early intervention programmes to provide support for children and parents
- good parenting skills and an ordinary family life
- education and support groups to provide information and help for parents, friends and families improved education and support has led to more opportunities for people with Down’s syndrome. These include being able to leave home, form new relationships, gain employment and lead largely independent lives.However, it is important to remember each child is different and it is not possible to predict how individuals will develop.Read more about living with Down’s syndrome
Care and support
If you have Down’s syndrome or care for someone who has Down’s syndrome, it may be useful to read your guide to care and support. This guide is for people with care and support needs, as well as their carers and relatives.
It includes information and advice on:
- practical support for carers
- parenting children with complex needs
- tips on caring for a disabled child
- children and young people’s services
Associated health conditions
There are a number of disorders that are more common in people with Down’s syndrome.These include hearing and vision problems
heart disorders, such as congenital heart disease</spthyroid problems, such as an underactive thyroid gland (hypothyroidism)recurrent infections, such as pneumonia
Your child may be checked by a paediatrician more often than other children to pick up developing problems as early as possible. If you have any concerns about your child’s health, discuss them with your GP, health visitor or paediatricia
Information about your child
If your child has Down’s syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).
This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.
Down’s Syndrome Association
If you would like more information about Down’s syndrome, you can visit the Down’s Syndrome Association or call their helpline on 0333 121 2300.
How to Help a Child with Down Syndrome
With a network of loved ones, friends, educators, and medical professionals, children with Down syndrome can thrive and lead full lives. Society has come a long way in how children with this condition are treated, although misconceptions still exist. Learn what steps you can take to help a child with Down syndrome.
Teach your child how to make friends.
Children with Down syndrome benefit from practicing social skills. Making friends can be a challenge for any child. Children with this condition sometimes have a harder time dealing with peers.
- Talk about friendly and unfriendly actions and who makes a good friend. Kids who are smiling and use kind words are good new friends. Kids who ignore you, walk away or say mean things are people to avoid.
- Practice how to start a conversation. Once your child learns about who to approach and who to stay away from, practice what to say to a new friend. Work on how to introduce yourself. For example, “Hi! My name is Anna. What’s your name? What’s your favorite game to play?” Take turns rehearsing different conversation starters with your child.
- Teach your child how to deal with mean or hurtful behavior. Talk to your child about what they can do if someone is unkind or mean. For example, tell the person to stop, get help from a teacher, or walk away.
- Schedule play dates. Get to know other parents and help your child interact with their new friends.