SINGAPORE – Mother-of-three Tiffany Tan first noticed that her middle child Tabitha, then seven months old, constantly shook her head.
Concerned that this could be a sign of seizure, the housewife and her husband Joshua Lowe consulted a paediatrician, who said the child did not have seizure.
Tan recalled: “Tabitha was also physically smaller when she was born and was not hitting her milestones. For instance, she did not walk until she was two and she does not like milk.
“When I brought this up, relatives told me it was normal for some babies to be slower and that I was too gancheong (Cantonese for anxious),” the 34-year-old said.
“I started to doubt myself, but it was after I posted my concerns on my Instagram account that friends, who are in the healthcare industry, told me usually a mother’s instinct is right, and that I should take her to a child development specialist.”
Tan took her daughter to the specialist, who recommended developmental and genetic tests.
“It was a long journey to get to the diagnosis. Tabitha went through several tests with no answers or signs of anything out of the ordinary until we managed to get a consultation with Dr Nikki Fong,” Tan said.
Fong, a geneticist with KK Women’s and Children’s Hospital (KKH), diagnosed Tabitha with Okur-Chung neurodevelopmental syndrome (OCNDS). The rare genetic condition affects the development of the nervous system because of changes in a gene (CSNK2A1) that creates a protein crucial for development.
Fong said individuals with the condition can have a spectrum of symptoms, including global developmental delay, mild-to-moderate intellectual disability, decreased muscle tone and behavioural issues like aggression and tantrums.
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