A family from Tasmania is sharing their story of resilience and hope after their daughter, Natalie “Natty,” overcame early medical challenges linked to a rare genetic condition and grew into a confident, joyful child.

Natty was born in May 2009 weighing just over two kilograms. Although the pregnancy had progressed without complications, doctors quickly noticed she was struggling to breathe and moved her to intensive care. “They told us she needed some help with her breathing, and suddenly everything changed,” her mother, Sue, recalled. “I remember the fear in that moment more clearly than anything else.”

Her father, Mark, said the first sight of his newborn daughter left him worried. “She was very pale and didn’t look how I expected a newborn to look,” he said. “I knew something wasn’t right, but we had no answers yet.”

Hours later, doctors explained that Natty had Treacher Collins syndrome, a rare genetic condition that affects the development of facial bones. The condition occurs in approximately one in 50,000 births and can vary widely in how it affects each child.

“Most children with this condition can grow up to live full, happy lives,” the medical team reassured the parents at the time. Still, Sue described the moment as overwhelming. “I was relieved she was alive, but at the same time I felt completely unprepared for what lay ahead,” she said.

Within days, Natty was transferred to specialist hospitals, where she received advanced care. She later underwent a tracheotomy to support her breathing and required tube feeding during her early months. After several weeks, her condition stabilized, allowing her to return home with her parents.

The years that followed involved multiple surgeries and ongoing medical care, including procedures on her jaw and palate. Despite these challenges, her parents say Natty’s positive spirit never faded. “She was always smiling,” Mark said. “That smile made the hardest days feel manageable.”

Although Natty learned to walk and run like other children, speech development proved more difficult. Doctors explained that delayed speech is common for children with Treacher Collins. Instead of words, Natty found other ways to express herself, learning gestures, signs, and visual communication tools.

“One day she pointed to her eye, made a heart shape with her hands, and pointed to me,” Sue said. “She was telling me she loved me. I cried happy tears because it was so clear and so sincere.”

Now five years old, Natty has started school and is thriving. She uses picture boards to communicate in the classroom and has quickly formed friendships. “The other children adore her,” Sue said. “She gives hugs freely and loves being around people.”

Natty’s parents say their daughter understands that she is different but does not let it define her. At home, she enjoys music, dancing, and spending time outdoors. “She’s just like any other child her age,” Mark said. “She has her own way of communicating, but her personality shines through.”

Looking back, Sue reflects on how motherhood has reshaped her perspective. “Before Natty, I didn’t know what it meant to raise a child with additional needs,” she said. “Now I see strength and beauty in ways I never imagined.”

Her parents hope that sharing Natty’s story will help increase understanding and acceptance of children born with rare conditions. “Our daughter has taught us that real beauty comes from within,” Sue added. “And when that inner strength shines, it makes everything else secondary.”