SINGAPORE – Ms Jasmine Tang knew nothing of achondroplasia – a genetic disorder whose primary characteristic is dwarfism – when her son Jayson was diagnosed with the condition after his birth in 2011.
“I was clueless, nobody guided me,” said the quality assurance executive, who is now 41.
Ms Tang was able to get advice from an online forum based in the United States, though she noted that some of the information shared was not applicable in the local context.
Now she and other parents of children with achondroplasia can turn to Little Mighty Warriors, a local support group for those with the condition.
Little Mighty Warriors founder Joshua Khoo – who has had achondroplasia since birth – said the idea for the group came when he was on sabbatical last year.
“I realised that parents are seeking a support group to get advice,” said the 30-year-old photographer. He said such advice can range from where to buy suitable shoes for their children to whether special fixtures are needed around the home.
The group now counts among its members 11 children below the age of 12, as well as eight teenagers and young adults.
Achondroplasia, a genetic condition that causes abnormal bone and cartilage growth, affects one in every 30,000 newborns globally, said Dr Koh Ai Ling, a consultant at the genetics service in the paediatrics department at KK Women’s and Children’s Hospital (KKH).
Among those with the condition is American actor Peter Dinklage, best known for the role of Tyrion Lannister in the TV series Game Of Thrones.
A major health concern for babies with achondroplasia is the narrow passage between the base of the skull and the top of the spine which can potentially lead to compression of the brainstem, spinal nerves and major blood vessels.
“This may cause abnormal breathing, and some patients may even stop breathing unexpectedly leading to sudden death. Some of the patients may have fluid build-up in the brain, requiring surgical drainage to relieve brain pressure,” said Dr Koh.
Beyond health issues, those with the condition also face difficulties in getting insured and often face problems such as bullying, said Mr Khoo.