World Down's syndrome Day - 21 March 2011

As part of the Government Employees Medical Scheme's (GEMS) ongoing effort to educate our members and future members on a range of healthcare topics, we would like to share real life member stories with you. This article explores the subject of Down's syndrome this World Down's syndrome Day, 21 March 2011.

Ansie van der Merwe* is a 37-year-old mother of one living in Cape Town who recently fell pregnant. Although she hadn't expected to get pregnant, Ansie and her husband Johan were delighted. They believed that another child could only enrich their lives.

Getting screened
Ansie, who is a member of GEMS, went to her doctor to make sure she was indeed pregnant. Her doctor confirmed the pregnancy and suggested that because she was of a relatively advanced age, she be screened for Down's syndrome. Down's syndrome is a genetic abnormality that is fairly common in South Africa affecting around one in every 800 children that are born.

Older women are more likely to produce a Down's syndrome baby than younger women and doctors recommend that all women over the age of 35 be screened for the condition as part of a standard prenatal test. A woman of 40 years of age is 16 times more at risk of developing a Down's syndrome baby than a 25-year-old woman.

Ansie agreed to the screening test for Down's syndrome. Unfortunately for her it was positive and she decided to follow the doctor's advice and have a further diagnostic test to make sure the result was accurate. This too was positive and Ansie and her husband had to make one of the most difficult decisions of their lives: whether or not to terminate the pregnancy.

What are the affects?
Down's syndrome affects no two individuals in exactly the same way. Some children are mildly affected by it while others have heart and other defects that may even be life threatening.

Generally, people with Down's syndrome do not live as long as other people. They also often have developmental disabilities, slower than normal physical development, lower than average cognitive abilities and some have birth defects. Around half of people with Down's syndrome will have heart problems and respiratory illnesses, and some will suffer gastrointestinal problems.

Treatment
Down's syndrome babies may or may not require treatment after they are born. This depends upon the degree to which they have been affected by the condition. Gastrointestinal blockages and heart defects sometimes require surgery soon after birth.

It is recommended that babies with Down's syndrome be screened for certain medical conditions. Tests include:

• X-rays of the spine between the ages of three and five years
• Eye examinations every year in infancy
• Hearing tests every six to 12 months depending on age
• Dental exams every six months
• Pap smears and pelvic exams beginning in puberty or by the age of 21

A difficult decision
As noted previously, some Down's syndrome babies are severely affected by the condition while it does not have such a great impact on the lives of others. Many people with Down's syndrome live long and fulfilling lives while others have to live with impaired mental and physical functioning and require full time care.

There are no tests that can be done before birth to establish just how severely Down's syndrome will affect a baby. This lack of ability to predict the affect of Down's syndrome makes it difficult for many parents to decide whether they should terminate a Down's pregnancy or not.

Improved lives
Some parents believe that their child deserves a chance at life no matter whether it has Down's syndrome or not. There are those who say the experience of having a Down's syndrome child has been very enriching to their lives. Many people with Down's syndrome make valuable contributions to our communities and lives. In addition, the improved medical care that is available today means that increasingly more people with Down's syndrome are living longer lives of improved quality.

Informed choice
While this may be so, many Down's syndrome children do require specialised care and can be quite sickly. This may place a lot of strain on the family from both a financial and psychological point of view. Before making a decision about whether or not to terminate the pregnancy parents need all the information about Down's syndrome and their specific case.

Establish all of the options available
A woman who has a Down's syndrome pregnancy should speak to her doctor about the options that are available to her. She may also wish to receive counselling if she needs assistance to make a decision that is right for her.

Having carefully considered the options available to them, the van der Merwe's decided, as a family, to have the baby. Johan held a senior position in Government and as Ansie was a stay-at-home mom and their 17-year old daughter would be able to help take care of the baby, they felt they could manage the potential difficulties with which they may be faced.

Baby Clara is now two years old and a vital part of the van der Merwe family. Her parents and sister describe her as being a very special little person who has deeply enriched their lives. While every day brings a new challenge, Clara gives great joy to her family and they cannot imagine life without her.

*The member's name has been changed in order to protect her privacy.

For any GEMS member queries, please contact the GEMS call centre on 0860 00 4367 or visit our website at www.gems.gov.za. GEMS will assist you in every way possible to ensure your family's health and wellbeing.

Sources:
Down's syndrome South Africa Website www.downSyndrome.org.za.
MedlinePlus Medical Encyclopedia, ‘Down's syndrome', www.nlm.nih.gov/medlineplus/ency/article/000997.htm.