A rare disease diagnosis came too late for this boy, who says he’s not ‘the poor thing’
SINGAPORE – At just two weeks old, baby Sage Tan fell into a life-threatening coma and a diagnosis just 14 days after birth was deemed too late for him.
Before the age of four, he already had two liver transplants. Now 16, he has survived several painful, near-fatal experiences.
The Singaporean teenager has a rare genetic condition known as maple syrup urinary disease (MSUD), which is estimated to affect one in 185,000 infants worldwide.
People with the genetic condition cannot break down branched-chain amino acids, which are formed when the body digests protein foods such as milk, the main food for babies.
This rare disease can be fatal if treatment is not given in time. One of the symptoms is distinctive smelling urine, hence its name.
Associate Professor Denise Goh of the National University Hospital (NUH) said that in Singapore, three cases of MSUD were detected during newborn screening between July 2006 and September 2020.
She is Chief of the Division of Pediatric Genetics and Metabolism at Khoo Teck Puat at NUH – National University Children’s Medical Institute.
Sage’s rare disease was not detected at birth. His mother, Ms Cindy Tan, 50, said the late diagnosis – two weeks after he was born – affected parts of his brain.
Elevated leucine – one of the branched-chain amino acids that cannot be broken down in someone with MSUD – can cause brain damage, Prof Assoc Goh said.
Ms Tan, who works as a freelance art teacher, said when Sage was born in 2005, newborn screening tests for rare metabolic disorders such as MSUD were not yet widely available to the public.
Despite his many brushes with death and his health problems, the resilient boy remains fearless and optimistic.
He and his mother spoke to TODAY during a Zoom interview to raise awareness for rare diseases on Rare Disease Day, which was February 28 earlier this week.
Sage is studying at Spectra High School and will be taking her N-Levels this year.
A beneficiary of Club Rainbow (Singapore) since the age of two, Sage has participated in various fundraising activities organized by the non-profit organization. It supports children with chronic illnesses.
The most recent activity was last year. For a charity event called Ride for Rainbows, Sage rode around 75km over several days with her father Thomas Tan, 50, a business development manager.
Cycling long distances is not easy for Sage. It took him an entire year to learn to ride a two-wheeled bike, but he never thought of giving up.
Sage has high muscle tone around his ankles, which makes it harder for him to flex his ankles. The condition is linked to the fact that her brain was affected by untreated MSUD early on, Ms Tan said.
As a baby, he took longer than his peers to sit, crawl and walk.
Sage said: “When I was riding my bike, I thought to myself that we (my dad and I) had to keep going. I wanted to help raise more funds for other kids to join Club Rainbow as well.
Club Rainbow (Singapore) now supports 183 children with rare diseases and their families, who represent 16% of its beneficiaries. It also supports children with neurological disorders and developmental issues.