Anyone with Down syndrome is a survivor

Down syndrome involves the occurrence of an extra 21^st chromosome. The rate at which it occurs is quite frequent. However, only 50% survive through the first trimester and 75% survive through the second trimester (Akhtar and Syed, 2021). The people around us living with Down syndrome have beaten the odds of survival!

Need-to-know keywords

• Chromosomes: structures in living things that carry genes that make up all the characteristics of a person. Human beings have 23 pairs of chromosomes. 
• Autosomes: the 22 pairs of chromosomes of humans, excluding the sex chromosomes. They carry hereditary information that is not sex-linked. 
• Trisomy: Presence of an additional chromosome (tripled set of chromosomes)
• Gametogenesis: Formation of gametes (sperm and ova) through the replication of cells (meiosis).
• Fertilisation: Fusion of gametes to produce a new organism.

The science of Down syndrome made simple

The extra copy of chromosome 21 occurs due to the failure of the chromosome separating during gametogenesis. Following this, fertilisation leaves all cells of the new organism trisomic. The risk of this happening increases with the mother’s age. Though trisomy is more common in other autosomes than the 21^st chromosome, babies born with such trisomic conditions do not make it past two years (Akhtar and Syed, 2021). On the other hand, Down syndrome babies are fighters who persevere and push through life and live up to the age of at least 35!  (Thase, 2008).

Physical features (Antonarakis et al., 2020)

1. Short stature
2. Short fingers
3. Flat nose
4. Small ears
5. Protruding tongue
6. Reduced muscle mass

Clinical features (Akhtar and Syed, 2021)

1. Heart defects
2. Ear, throat, nose problems
3. Visual abnormalities
4. Thyroid problems
5. Reduced brain volume
6. Blood disorders

Less spoken facts about Down syndrome

We had an insightful conversation with the special educator, Melisa Edema about the less popularly known challenges surrounding Down syndrome and the available educational facilities specially designed to bring out the best in these special children. We have summarised a few of what was discussed below. To watch the full conversation, please click the embedded YouTube video at the end of the article.

1People with Down syndrome and their families face intense stigma (Huiracocha et al., 2017) 

• Stigma takes root in health facilities. Surveys conducted reveal that diagnosis is communicated in an insensitive way and with a lack of compassion. This leaves the family members with shock and fear. 
• Many cultural myths and religious beliefs display the birth of a child with Down syndrome as bad omen or punishment for one’s sins causing parents to feel guilt and shame. 
• Stigma is prevalent in the education system: students and teachers alike were often noticed to degrade or isolate students with special needs.

2Raising a child with Down syndrome is psychologically demanding (Roach, 2022).

• The social stigma in place adds an additional burden on members of the family.
• Caring for the child is a full-time job which often requires lifestyle adjustments and sacrifices.
• Parents often show depressive symptoms related to unmet expectations of conceiving and raising a healthy child.

3Families with a Down syndrome child have many economic challenges (Shahat and Greco, 2021)

• The extra costs for childcare and healthcare can impoverish the household.
• Indirect costs are experienced by parents for productivity loss and time lost due to caring for the child.
• Future productivity loss by the children due to lower access to employment.

4

Down syndrome awareness is poor.

• Many studies have assessed the knowledge of pregnant women regarding tests that assess the risk of conceiving a down syndrome child and concluded that the awareness is below average (Daniel Cooper, 2014; Rabiee, Jouhari and Pirasteh, 2019).
• Knowledge to provide adequate healthcare and special education required for the child’s wellbeing is poor, especially among rural communities (Levis et al., 2012).  
• Little awareness of the functions and roles of individual family members has caused the responsibility of caring for the child being constricted to a single parent of the household (Huiracocha et al., 2017).

5

Special education has improved over the years

• Vocational education helps the child to grow up with employability skills.
• Inclusive education prepares the child to interact with ordinary people that they may come across in their day-to-day life.
• Each child’s unique skills in aesthetics are identified and developed so that it may become a sustainable career in their future.

Tests that assess the risk of conceiving a child with Down syndrome

Screening tests

1. First trimester screening
2. Second trimester screening and ultrasound
3. Integrated screening

Diagnostic tests

1. Chromosome analysis
2. Diagnosis by molecular cytogenetics
3. Foetal cells analysis

Factors that influence the quality of life of a person with Down syndrome  (Haddad et al., 2018; Thompson et al., 2020)

1. Family bonds: a close-knit family of parents and siblings who provided emotional encouragement was important.
2. Friendships: young people who had three or more friends had better quality of life than those with no friends. 
3. Burden of medical conditions: behavioural disorders and learning disabilities significantly reduced the quality of life of down syndrome children.
4. Independence and self-advocacy: people who have their own job and are able to communicate their needs to those around them are happier with their lives.

My child is diagnosed with Down syndrome. What should I do next?

Katie Jameson, a mother to a daughter with down syndrome said “I too, never knew how much I wanted a child. I too, never knew how much I would love having Down syndrome in my life. This is not forced; these are not words I say because I have to. This is the truth about the diagnosis – she is incredible.” Raising a down syndrome child is going to be challenging, but rewarding. Though the world has labelled them as less and rejects them, they have much to offer to this world. Most adults and children with Down syndrome are empaths. The self-centred and fierce atmosphere around us could use the help of your child’s empathy and kindness. Many organisations and support groups are in place to assist you in caring for her/him and allowing them to reach their highest limit and thrive. A few such organisations available in Sri Lanka are listed below:

• MJF charitable foundation
• Chitra Lane
• Hands of hope
• Jinendhi resource Centre for Down Syndrome
• Prithipura 
• Friends Lanka child foundation

Author: Esther Swamidason

References

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