Meet Cassie Chow, a vibrant five-year-old girl with an extraordinary story. Even before she took her first breath, ultrasound scans revealed something unusual: an enlarged left leg, a clue that hinted at a rare condition.

Following her birth, Cassie's doctors were puzzled by the significantly disproportionate size of her limbs. Rushed into the neonatal intensive care unit, she was monitored for any complications. While her other vital signs were stable, her body was dotted with large port-wine stains, further complicating her diagnosis.

A Journey of Discovery Begins

Cassie's mother, Lynnette Tay, noted the confusion surrounding her daughter's condition, explaining, The pediatric doctor wasn’t certain what she had; it seemed very rare. Frustrated by the lack of information, the family sought multiple opinions, leading them to an MRI scan when Cassie was just two weeks old.

Eventually, they found hope through Associate Professor Mark Koh, the head of dermatology at KK Women's and Children's Hospital. In 2021, at just one year old, Cassie was diagnosed with PIK3CA-Related Overgrowth Spectrum (Pros), affecting one in about 20,000 live births.

Understanding PIK3CA-Related Overgrowth Spectrum (Pros)!

Dr. Koh described the condition as one leading to "overgrowth or malformations of various tissues, including blood vessels, lymph vessels, soft tissue, muscle, and bone." Such anomalies may lead to a host of challenges, including pain, dysfunction, and even risks of infection and abnormal blood clots.

The genetic mutation that causes Pros occurs post-conception in an isolated area of body cells, making it a mosaic mutation. This means that not all of Cassie's cells are affected, making her condition unique.

Navigating Challenges with Courage

Despite the medical struggles, Lynnette and her husband, Kenneth Chow, have taken a proactive approach, diving into research and connecting with support groups both locally and internationally. We participated in foreign medical conferences via Zoom, often being the only Asian attendees, Lynnette recalled.

Cassie’s medical team provides an array of treatments, including sclerotherapy to manage abnormal blood vessels and regular physical therapy. Dr. Koh believes that with ongoing care, kids like Cassie can lead fulfilling lives, stating, They can achieve excellent results, ultimately leading to normal lifespans and lifestyles.

Bright Spirit Amidst Challenges

Every two months, Cassie visits KKH for blood tests to monitor her health, but her effervescent spirit shines brightly. She delights in simple joys, like eating gummies, and her family takes pride in cherishing every milestone.

To better prepare Cassie's teachers as she enters pre-school, her mother created a quick guide about her condition, ensuring everyone was informed and supportive. With the transition to primary school approaching, Lynnette anticipates it's going to be even more challenging, but she remains hopeful!

"It's all about managing things as they come," she adds. Familiar with the hurdles ahead, her family continues to embrace Cassie's uniqueness, determined to fuel her joyful and adventurous spirit.