Yong Xuan: Forging Ahead with Family

When she was one month old, Koh Yong Xuan was diagnosed with Prader-Willi Syndrome (PWS), a rare, complex genetic disorder occurring in approximately 1 in 15,000 births. 

When they first received the news of the diagnosis, Yong Xuan’s family was understandably shocked and overwhelmed. Having never heard of PWS, they did not know how to begin taking care of Yong Xuan, which came with a persistent multitude of challenges. 

Infants with PWS have low muscle tone, struggle with breastfeeding and frequently require tube feeding and careful monitoring. Even the innocuous, everyday action of drinking a glass of milk could result in life-threatening lung infection and high fever. As a 28-week premature baby, Yong Xuan spent her early days in the Intensive Care Unit (ICU) of Kandang Kerbau Women’s and Children’s Hospital (KKH).

Growing up, individuals living with PWS exhibit cognitive challenges, learning disabilities, and other difficulties that vary in severity and occurrence from individual to individual. 

Yong Xuan was diagnosed with Global Development Delay (GDD), which indicates when a child fails to meet expected developmental milestones in several aspects of intellectual functioning. She is also non-verbal, lives with scoliosis, and navigates day-to-day complications that come with her condition. 

Saw Pheng, Yong Xuan’s mother and primary caregiver, also grapples everyday with Yong Xuan’s hyperphagia, which is characterised by an intense, unregulated appetite that leads to easy weight gain if not closely monitored. The family works together to ensure access to food at home is restricted, hidden and locked away to prevent Yong Xuan from overeating. 

Taking care of Yong Xuan and ensuring her safety every second of her life has become second nature to her family. It is a challenging task that requires constant vigilance and sleepless nights. Despite all the challenges, however, Yong Xuan and her family maintain a positive mindset, thanks to the support they receive from the rare disease community, family and friends.

Saw Pheng describes Yong Xuan, now 17 years old, as a cheeky and hardworking girl who continues to learn and grow at her own pace.

---

“Carrying hope with RDSS means that we are not lonely, and our heart is not empty. Because we can keep going, keep caring, and keep believing together.”

—Saw Pheng, Yong Xuan’s Mother

---

The future for Yong Xuan is nebulous and uncertain, but she and her family choose to hold on to hope as they carry on, one step at a time.

To learn more about Yong Xuan’s story, watch her Frontline《前线追踪》 feature here.