Down Syndrome: Genetically Enhanced with the 21st Chromosome with More Special Gifts than Needs
Medical ailments may be genetic, acquired, or a combination of both. Generally when we think about people with learning disability, our first thought is of physical or psychological disability. But in fact the domain of learning disabilities encompasses more than this, it includes hearing and speech impairment, and disorders such as Down syndrome. Such individuals face learning disabilities that vary from patient to patient.
Have you ever given more than a passing thought to this disorder of Down syndrome? If not, here you go. It is a congenital condition i.e. it is present at birth, and has a universal distribution across race and gender. It usually causes varying degrees of intellectual and physical disabilities. Even though the term ‘Down syndrome’ is heard quite commonly, exactly what it entails is still a mystery to those of us who have never had any real contact with somebody diagnosed with the condition.
Normally the nucleus of each human cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has an extra copy of chromosome 21. This supplementary genetic material is responsible for developmental delays and altered physical features characteristic of Down syndrome. These include short stature, wide rounded face, fold of the upper lip, large tongue, stubby fingers, wide gap between the first and second toes, and severe mental retardation in some cases. Its incidence is approximately 1 in 800 live births, although there is considerable variation worldwide.
Down syndrome received its name in 1866 from John Langdon Down, a British physician who distinguished this condition from general mental disability. It has been more recently called ‘trisomy 21’ which better speaks of the extra 21st chromosome. Many people prefer the latter terminology as it has less of a negative implication than using the word ‘Down’ and ‘syndrome’.
For parents who are welcoming a newborn with Down syndrome into a family, adjusting to the reality of this condition may be quite a challenge. A mother raising a child with Down syndrome reflects: ‘If I could go back in time and relive one moment, without a doubt I would choose the moment four years ago when I received a phone call and heard, “Your baby has Down syndrome.” Slumped on the couch, tears overflowing, and feeling like my world had just imploded, I knew nothing would ever be the same. Upon receiving my daughter’s prenatal diagnosis, I remember feeling a sense of soul-crushing hopelessness. I was changed forever by that call.’
On March 21 every year the United Nations officially observes World Down Syndrome Day (WDSD) is to raise global awareness of Down syndrome; what it means to have Down syndrome and how to enable these individuals to live their life to the fullest. Events and campaigns take place throughout the world including Pakistan. In Karachi, KDSP – Karachi Down Syndrome Program – is an initiative that envisions a world in which all people with Down syndrome are accepted, integrated and facilitated in realizing their ambitions and improving their quality of life.
The first step towards change is awareness and the second step is acceptance. Health care professionals can be influential in guiding the family toward appropriate resources. They also stand as important figures in the support system of the patient and of parents when they first learn that their baby has Down syndrome. Parents experience some degree of stress and anxiety in early days following the birth due to frequent medical checks and surgeries, and they too need to be prepared mentally, emotionally and financially.
Researchers suggest that regardless of the demands of living with a child with disability, families can adjust to it with minimal disruptions. Families generally find their way and continue to lead reasonably regular lives. Some interventions include enrolling the baby in Early Intervention (EI) programs. This focuses on facilitating babies and toddlers in learning basic skills that develop during the first three years of life. Moreover, discussing fears and worries with close friends and families known to have children with Down syndrome, can help parents navigate their child’s development better.
In addition, participating in awareness campaigns promotes better understanding to cope with the circumstances. Furthermore, parents need to work out a plan for generating extra income to cover any bills, medical expenses, social, educational, and behavioural challenges ahead. Assisting a child in achieving the developmental milestones requires extra effort, as these children make slower progress in development. Caring for children with Down syndrome is challenging yet ultimately extremely rewarding.
Today, people with Trisomy 21 (T21) enjoy a significantly improved health profile and lifestyle compared to those just a few decades ago. Many among these individuals can be credited with tremendous achievements, challenging conventional notions about their abilities. Here are some examples.
David De Sanctis became the first actor with Trisomy (21) to act in a leading role in a wide-release movie, ‘Where Hope Grows’. It is the audience choice award winner at the Heartland Film Festival in Indianapolis. “I want people to see me for my abilities, not my disabilities,” he says.
Chris Burke, who wrote the foreword of the book entitled ‘Down Syndrome: Living and Learning in the Community’, exemplifies the idea of success and healthy self-esteem. He writes: ‘I live an exciting and happy life, and that is because I am living my dreams. I love entertaining people and being an actor, I like to help my fellow handi-capables’.
Last though not the least let me mention Sujeet Desai, who is a musician, graduate of Berkshire Hills Music Academy. He has the skill to play seven instruments including the violin, piano, trumpet and saxophone. Desai has received multiple awards and was even attributed in the Wall Street Journal and Time Magazine as well as on 20/20 and the Oprah Winfrey Show.
Together with raising public awareness, it is our responsibility to treat every individual with respect and dignity irrespective of diagnosis. As Sevenly truly said, ‘When you judge someone based on a diagnosis you miss out on their abilities, beauty and uniqueness.’
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About the Author: Hunaina Hadi is currently working at Aga Khan University, Hospital Pakistan. She has completed her Bachelors of Science in Nursing from Aga Khan University, Pakistan in 2015. Her areas of interest are research and public health management. She can be reached at [email protected]
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