Clinical geneticist clarifies misconceptions about Down Syndrome

The Baguio City PDAO initiated the celebration of Down Syndrome Consciousness Month with a program on Feb. 21, 2025

BAGUIO CITY (PIA) – A clinical geneticist clarified the common misconceptions about Down Syndrome (DS).

Dr.  Mary Erika Orteza of the Baguio General Hospital and Medical Center emphasized that DS is not an illness but a condition that often comes with different complications and ailments that affect the patient from head to toe.

“We don’t use that term [Mongoloid] anymore,” Orteza said, because of its negative connotations when describing people with DS.

Another term that she mentioned being used to describe a DS patient is “kurang-kurang,” which is a derogatory term about having poor intellect. This  should not be used to describe anyone, especially those with DS. Intellectual disability does not affect all DS patients, she explained.

According to the Down Syndrome Association of Greater St. Louis, there are three types of Down syndrome, namely;  risomy 21 (nondisjunction), translocation, and mosaicism.

Congenital heart problems are a common symptom that people often miss with DS patients.

Orteza said that 50 percent of DS patients receive a diagnosis of congenital heart problems. She is pushing that children with DS should undergo  2D echo test   to ensure that they are clear of heart problems.

Congenital hypothyroidism is another symptom missed. Newborn screening can easily detect this symptom.

DS patients are also prone to anemia or blood disorders. They also suffer from ear infections, as well as  gastrointestinal symptoms such as constipation and hard bowel movements, which parents  often miss to notice.

Orteza also noted that  DS patients are prone to giving less attention to their dental health,  and are prone to weakened vision.

The doctor advised families of DS patients to maximize their potentials, incorporating them into society through proper care and treatment.

The Persons with Disability Affairs Office initiated the observance of Down Syndrome Consciousness Month with a program on Feb. 21, 2025.

Attended by the people with DS and  their families, the event also marked the formation of the Baguio City Down Syndrome Association, with elected officers set to take their oath on March 4, 2025.

Proclamation No. 157 declared February as National Down Syndrome Consciousness Month to raise awareness of the DS condition and educate the public on the great potential that children with DS possess to live normal lives. (JDP/DEG/Janine Laureta- PIA-SLU Intern]

In other News
Skip to content