Whilst much has been done to stimulate awareness of Down Syndrome, surprisingly little is understood about the disorder. Dr. Wessels is a Paediatrician at Busamed Harrismith Private Hospital. He is passionate about the disorder and says more needs to be done to highlight the remarkable achievements people with the condition have made.
‘Downs’ as it is informally called, is an irreversible chromosomal disorder whereby the 21st chromosome in either the sperm or egg fails to separate. This results in a person having an extra chromosome which comes with a few challenges.
Dr. Wessles says Downs is a medical condition, not a mental condition, although the disorder can have an impact on intellectual capacity.
He explains that the disorder and presence of an extra chromosome affects the way a child’s brain and body develops, resulting in different appearances, developmental milestones, disabilities and increased risk of adverse health conditions.
Characteristics of Down Syndrome
Dr. Wessels says low muscle tone, short stature, a flat nasal bridge, a protruding tongue and small hands and feet are commonly found in people with Down syndrome. They might also suffer a higher risk of developing Alzheimer’s disease and epilepsy.
Some common physical characteristics of Down syndrome can include: eyes that slant upward, skin folds on the inner corner of the upper eyelid, white spots on the iris, and single, deep creases across the center of the palms.
Globally, Dr. Wessels says that between 40–60% of all people with Downs will present with congenital heart defects. These patients could also experience hearing loss, seizures and cataracts. “Parents in the 21st century need to understand just how advanced the treatment of these associated conditions are,” says Dr. Wessels. “There is enough support to get both the patient and parent through the diagnosis and treatment phases.”
Famous people with Downs
British Disability rights advocate Heidi Crowter and several American actors including Chris Burke are famous socialites with Downs. Dr. Wessels says Down Syndrome is not a death sentence. “This is why I am so passionate about this condition. There are ways and means of giving the affected patient a good quality of life and that patient has the tremendous ability to impact society in positive ways.”