SINGAPORE – Leora Lim was born in 2021, bringing joy and hope to her parents.

But three days after her birth, rashes appeared on her delicate skin, which quickly turned into boils and blisters.

Seeking answers, her parents took baby Leora to a paediatrician, who then referred them to a dermatologist.

“After several visits and tests, we received the diagnosis: incontinentia pigmenti (IP). We were told it’s a rare genetic condition. When we heard those words, it felt like our world had shifted,” mother Hazel Ng said.

The 38-year-old physical education teacher learnt that IP could be hereditary, so she underwent DNA testing together with her daughter.

“While I tested negative, Leora’s results confirmed (what is known as) a deletion on her X chromosome. It was heartbreaking. As her parents, we felt overwhelmed with questions, fears and the weight of the unknown,” she told The Straits Times.

IP is a rare X-chromosome-linked genetic disorder that affects the skin, hair, teeth, nails, eyes, brain and the central nervous system.

Associated problems of IP include delayed development, intellectual disability, seizures and other neurological problems.

“About 10 per cent may have neurological issues like fits, seizures. They may have developmental delays... I would say most of our patients, about 90 per cent, do pretty well neurologically,” said Associate Professor Mark...