Genetic Counselling and Down Syndrome by Chantelle Scott

As part of our series on Down Syndrome, I asked a group of professionals to offer our readers a perspective on genetic counselling in the case of Down Syndrome.

Chantelle Scott, Frieda Loubser and Nakita Laing agreed to tackle these professional posts. If you’d like to contact them for more genetic counselling advice, you can find their details at the end of this post.

In this post, Chantelle answers the questions,

  1. What is the role of genetic counselling?,
  2. What is Down Syndrome?
  3. How do clients describe having Down Syndrome children?
  4. What causes Down Syndrome?

What is the role of genetic counselling?

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In modern times being pregnant means that you will be presented with several options with regards to screening and testing for Down syndrome in your unborn baby. Expecting couples are often overwhelmed by all these options and find having to make a choice about prenatal testing quite daunting. The role of a Genetic counsellor is to assist couples with this decision-making process.

The Genetic counsellor helps couples to think through the pros and cons of each testing option and then to make a decision that is in-line with their beliefs and values and that they feel most comfortable with. The counsellor will provide the couples with all the information needed in order for them to make an informed decision. Therefore we think it is important to provide you with detailed information on Down syndrome and the prenatal testing options that are currently available to you. In this post I will be sharing information on Down syndrome based on my experiences of working with these children and their parents. 

Undergoing prenatal testing for Down syndrome is an extremely personal choice. When making this decision it is advised to picture what your life would be like raising a child with this condition. If after reading this post, you can easily see yourself raising a child with Down syndrome, then prenatal testing might not be essential for you. If you feel that there are certain aspects of your personality and daily life that will make it too difficult for you to raise a child with this condition, then testing is an option that should be strongly considered.

What is Down syndrome?

Down syndrome is a condition that causes significant disability which affects each person differently. This condition cannot be cured or outgrown.

Giving birth to a baby with Down syndrome is no different from giving birth to any other baby. Like with any other baby, the baby will need a lot of care and love from his/her parents. Some of the babies are born with serious medical conditions and may need to stay in the hospital for extra medical care. Half of all the babies with Down syndrome are born with a heart problem, which may require an operation. They are also more prone to chest infections, colds and flu, which means there is a need for regular health checks and possible hospital admissions fairly often.

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During early childhood the parents will notice a delay in development, meaning it will take them longer to sit, walk and talk. It is important for parents to enroll their child in early intervention programs in order to promote their child’s development. The more input the child receives from his/her parents and the health care professionals, the more the child will be able to achieve in life. The child is able to interact with others and become an active member of the family.

Children with Down syndrome have an intellectual disability which limits their ability to read and write. As mentioned in the previous post children can be included in mainstream schools. However this is likely to only be up until a specific age, depending on how well they cope. In most cases these children will be put in a remedial class where they will receive individual attention. In South Africa, most of the children with Down syndrome attend a school for children with special needs.   

Although some children with a lot of health problems might not live to adulthood, many do grow up to be adults. An adult with Down syndrome can work in a sheltered environment if the opportunity is available. down syndrome 2.3Even though they are adults, they will still need someone to look after them and will need more involvement and care from parents, family and health professionals, than most people. This ongoing care may have a big impact on day-to-day family life and relationships. For this reason support is offered by local support groups, like the Down Syndrome Association Western Cape (DSAWC).

Experiences of raising a child with Down Syndrome

Throughout my years as a Genetic counsellor and volunteer at the Down Syndrome Association Western Cape (DSAWC), I have had the privilege of meeting many parents who shared their stories with me. I have noticed that most of the parents do come to terms with their child’s diagnosis and experience raising their child positively. They love their child and feel that their child brings them joy and has in some way enriched their lives. However it should be mentioned that many of these parents did not have a choice in the matter and will admit that having a child with Down syndrome is not easy and not something all people will be able to cope with. Having a child with any kind of disability means that the parents will have to make major adjustment to their daily lives. All the extra care and attention that the child needs can be a financial burden and emotionally difficult at times.     

Each child with Down syndrome is different and has their own unique personality. Their abilities differ and cannot be predicted beforehand. Therefore all parents experience their child differently. I recently had a group discussion with mothers from the DSAWC and asked them to share one positive experience and one challenge related to raising as child with Down syndrome. 

Positive experiences

“They love unconditionally. They don’t care who you are and where you live. They don’t care about your achievements or status and things like that. For them acceptance is based on how you treat them and other people. They live life to the fullest and find immense joy in everything.” Tineke

“They get angry, but they don’t stay angry with you. They forgive quickly.” Kathy

“Briantha changed me completely. She helped me to communicate better with people and I made more friends by joining the support group. Being part of the support group helped me a lot. Also when I am feeling sad, just having her around makes me happy again.” Dorris

“Bevan is very friendly and runs up to everyone to greet and hug them. He is maybe a bit too friendly.” Magdalene

Challenges

“One of the biggest concerns I had, was whether people will accept my child? How are they going to be towards him? And that made me sad also, because people do give you funny looks. Luckily my cousins have always been my friends and they accepted Nathan. They said that it was a blessing to have child like that and that is where I found my peace and accepted him.” Kathy 

“My son often had colds and flu and I did not know how to handle it. I did not know what to do, you know? Every second week we had to go to the doctor, because he was very week and sick. That was for the first two years of his life, after that it was fine.” Esther

“My child was born with a hole in her heart and had to go for an operation when she was 5 months old. That was very difficult for me and hurt a lot.” Dorris

“It’s different when you have a child with an intellectual disability. You love your child and you accept your child and you wouldn’t want your child to be any different, but there are moments when you get pulled back and realise that it is different. Parents say it is usually when their other children go to the matric farewell and you realise your child will most likely not go to a matric farewell. Or when your other children go to university and you realise your child will not be studying further. He will always need someone to look after him. If we cannot look after him anymore, he will need someone else to take care of him. When I look at Kevin as he is now, I would not have wanted him to be any different, but it is not something I would wish upon anyone else.” Tineke

down syndrome group discussion

What causes Down syndrome?

A baby is made when an egg cell from the mom comes together with a sperm cell from the dad. The mom and the dad each pass on half of their genetic material to the baby inside the egg or sperm cell. The genetic material is the set of instructions for how the baby will grow and develop and is stored in little packages called the chromosomes. We all have 46 of these chromosomes, 23 from each parent. In order for the baby to develop as expected the baby needs to get exactly half of the chromosomes from mom and half from dad. In the case of Down syndrome an abnormality happened which caused either the egg or sperm cell to pass on an extra chromosome 21. Therefore individuals with Down syndrome have 47 chromosomes in total.

This abnormality is not caused by anything the parents did or didn’t do during the pregnancy. As mentioned in the previous post, this can happen to anyone regardless of race, religion or socioeconomic status. However age does play a role and women who are older than 35 years do have a higher chance of giving birth to a baby with Down syndrome.

Acknowledgements

I would like to acknowledge two of my colleagues who helped to write the section on “What is Down syndrome?” and “What causes Down syndrome?”, Dr Michael Urban and Ms Mardelle Schoeman (Genetics Unit at Tygerberg Hospital).

I would also like to acknowledge the amazing mothers of the DSAWC who shared their experiences.

Fact sheets

http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/FactSheetTrisomy21DownSyndrome

http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/

Support group websites

DSSA: http://www.downsyndrome.org.za/main.aspx?artid=29

DSAWC: http://downwc.co.za/

Contact details

Author (Genetic Counsellor): Chantelle Scott: Tel: 021 938 9788, Email: chantelle.scott@gmail.com

Down Syndrome Association Western Cape: Tel: 021 919 8533,  Email: info@downwc.co.za

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