Riza Reji, 23, is a hugger. She enjoys watching the American sitcom Hannah Montana, which traces the life of an average teenager living a double life, trying to conceal her identity from the world. A story that resonates with Riza with one difference: She wants the world to see her authentic self.
The chirpy Bengalurean with Down Syndrome is on her way to ‘own’ the annual beauty pageant organised by the Global Down Syndrome Foundation in Denver, USA this November.
Riza will be the first Indian to participate in the event – Be Beautiful, Be Yourself – which will be held on November 12 this year and aims to raise funds for research into cognitive disorders such as Down Syndrome.
Her brush with fame has taken a little more than luck, with her condition requiring constant care which included intense physiotherapy, muscle strengthening activities, and medical support. But she is not complaining. Happiest Health gets up close with Down Syndrome through her story.
A chromosomal disorder
Down Syndrome is a condition in which a person has an extra chromosome that affects the development of their brain and body when they are babies. It’s the most common chromosomal abnormality seen in humans.
Individuals with this extra chromosome often exhibit mild to moderate intellectual deficiency, growth retardation, and distinctive facial traits, according to Dr Sowmya M, consultant neurologist at Aster RV Hospital in Bengaluru.
“Those with Down Syndrome nearly always have physical and intellectual disabilities. As adults their mental abilities are typically like those of an 8- or 9-year-old. They also typically have poor immune function and generally reach developmental milestones at a later age” says Dr Sowmya.
Other disabilities associated with the condition include poor skeletal development, dementia, hearing issues, poor vision, hormonal abnormalities specifically thyroid imbalances, and irregular facial and tooth development.
In terms of how common the condition is – one case of Down Syndrome is reported in every 1,000 live births in India, a statistic shared by the government to the Rajya Sabha in 2015.
For Riza, who was diagnosed with the condition at birth, muscle development and weight gain was delayed, requiring regular monitoring of hormone levels and vital signs, according to her mother. Then at the age of seven, she needed to undergo an atlantoaxial surgery to address a misalignment of the top two vertebrae in her spine.
This is a condition seen in some Down Syndrome persons putting them in danger for catastrophic spinal cord damage from neck overextension.
“Keeping a track of her activities and periodical health check-ups has helped in monitoring her overall development.” — Anita Reji, mother of Riza and co-founder of the Beautiful Together Institute that works for the welfare of the differently abled.
She was able to recover from the procedure and become stronger with the support of physiotherapy and life coaching, says Anita. She also received additional attention and mental support that helped make her more rigid and resilient, her mother added.
Acceptance, care and tolerance
For Anita, only acceptance, extra care, and tolerance from their caretakers can people with Down Syndrome deal with life’s everyday challenges. She said that for children with disabilities to fully develop, they need to be exposed to the kinds of experiences every child goes through.
“Since that their immunity is challenged, a little extra care is needed for Riza,” says Anita, adding that when her daughter fell sick, they had to ensure extra care for her to recover quickly.
She adds that it’s Riza’s upbringing that has allowed her to succeed in life – completing formal education throughout her formative years, and then pursuing dance and arts at school. It also helped with Riza’s emotional stability; her mother added.
Support groups are also an incredibly powerful way for parents of children with Down Syndrome to give the right care. “It is helpful to start association with other parents of children with Down syndrome. This way, as the child grows, they (parents) know to work with doctors, therapists, teachers, and other specialists,” says Dr Sowmya.
Catching it early
There’s no known cause for Down Syndrome, either behavioural or environmental. However, it is understood that the risk of conceiving a child with the condition goes up if the woman is older than 35 years.
Today, it is possible to catch Down Syndrome through prenatal tests and foetal imaging. First, the level of proteins PAPP-A (pregnancy associated plasma protein A) and HCG (Human chorionic gonadotropin) are evaluated in the mother’s blood.
If PAPP-A and HCG is found to be out of range, the mother’s blood is then tested for chromosomal abnormalities in addition to inspection of the tissue folds at the back of the foetus’ necks using ultrasound technology, Dr Sowmya says.
“Babies with Down syndrome frequently have excess fluid in the neck tissue. The protein alfa feto and the hormone estriol are among the other components in maternal blood that are measured,” she added.
Next generation genetic tests are also being used for early screening of Down Syndrome. Several fetal and prenatal scans are also being developed for early detection of any chromosomal abnormalities in women getting pregnant after the age of 35.
Improve cognitive abilities
Since there is no known cure to the condition, researchers are instead focusing a lot on improving the quality of life of persons with Down Syndrome, including using chemicals to improve the functioning of brain cells.
Researchers from University College of London published a study analysing the effect of memantine and choline esterase inhibitors on over 300 individuals with Down syndrome and Alzheimer’s disease found that they displayed improved cognitive abilities. They emphasised that the early administration of these medicines would be more beneficial for these individuals.
But until these drugs and techniques are approved and brought to everyone, the best bet for those with Down Syndrome is a healthy mix of diet, physical exercises, and muscle strengthening. Studies have shown that individuals with the condition who regularly engaged in physical activity had enhanced general learning capacity and physical strength.
Riza is proof of this, having undergone constant physiotherapy sessions to enhance her physical and mental abilities. She is highly observant and expressive and has over ten artworks to her credit – the inspiration for which comes from her time growing up in Africa.
“I have Down Syndrome, but that does not stop me. Taking my space means being myself. I love who I am, I do what I like. I shine in my space,” says Riza.
Just like any other young adult.