Orla McMullan

When Kirsty and Michael welcomed their daughter Orla into the world, she was perfect in every way. Her development appeared typical, and she was meeting her early milestones. However, as time passed, subtle concerns began to emerge.

By 18 months, Orla still wasn’t walking. Since birth, she had a condition called positional talipes, where her feet turned inward. Due to this, she wore splints regularly, and her parents assumed the delay in walking stemmed from that. Orla had never been able to stand on her own without holding onto something for balance, but she eventually learned to walk along furniture, determined to move, even if it meant tripping over her own feet.

Still, something didn’t feel quite right. Kirsty and Michael began to advocate for further evaluations. After much advocacy, they were finally referred to a pediatric neurologist. The neurologist noticed physical traits that Orla’s parents had never connected to any medical issue – wider-set eyes, coarse facial features like thickened eyebrows, and a flattened bridge of her nose. 

He confirmed their instincts; further testing was needed. The idea that Orla’s struggles might be due to something larger was shocking. What began as concerns about her walking spiraled into a plethora of tests – MRIs, bloodwork, evaluations – all made even more difficult by long wait times due to the COVID-19 pandemic. This process stretched on for months, from when Orla was 18 months old to just after her second birthday.

Shortly after turning two, Orla began to deteriorate rapidly. She became lethargic, didn’t want to eat or play, and slept for long periods. Then, just as suddenly, she bounced back, and her abilities returned. However, within weeks, another illness set her back again. This time, she developed tremors and involuntary movements. She tried to play but was shaky and less coordinated than before.

Within days, Orla lost many of the skills she had regained. She couldn’t sit up on her own; she flopped over easily, barely ate, and couldn’t even hold up her head. Alarmed, Kirsty and Michael rushed her to the hospital. She was admitted for three agonizing weeks as the medical team worked desperately to understand what was happening. 

During her stay, as her condition worsened, answers finally came – though not in the way any parent should have to receive them. Her blood test results came back, and a consultant for Inherited Metabolic Disorders from Glasgow diagnosed Orla with Multiple Sulfatase Deficiency (MSD). A condition so rare that not a single other child in Scotland had been diagnosed with it at the time. 

The moment that should have brought clarity instead brought heartbreak. The diagnosis was delivered bluntly. There was no preparation, no plan, and no emotional support. Kirsty and Michael were left overwhelmed, frightened, and with more questions than answers. In that moment, what they needed most was empathy. Instead, they were left with a diagnosis and no guidance. The prognosis described to them was heartbreaking, and yet, Orla’s parents clung to something deeper than fear: hope. 

With so little information available in their own country, Kirsty and Michael turned to the world. They began searching internationally for families with children like Orla, hoping to find guidance and light. They needed to know that joy was still possible. That even in the face of such a devastating diagnosis, there could still be laughter, love, and moments to treasure. 

And in Orla, they found all of that and more. Orla is a radiant light, full of personality and sass. Though nonverbal, she has no trouble communicating exactly how she feels. Orla does big sighs, which can tell you how she is feeling, and are funny! She knows how to command attention and does it with charm, like a true diva.

Orla finds the greatest joy in being surrounded by those she loves. She lights up when she hears Disney music, especially songs she recognizes. Story time is also a favorite activity of hers, along with swimming, massages, and, of course, cuddles. One of her happiest memories was visiting Disneyland and seeing the magic come alive.

Kirsty and Michael have countless moments they treasure. From watching Orla take her first steps along the furniture in her splints to seeing her flip through books, pretending to read, her determination always shone through. Since her diagnosis, they’ve witnessed her incredible resilience. Despite endless appointments, Orla rarely cries. She takes everything in her stride and, in doing so, inspires everyone around her.

A turning point came after she finally received a G-tube, something they fought for two years to get. The improvement in her quality of life was almost immediate. She recovered well and quickly, allowing the family to go on walks together and even take a plane ride, which Orla sat through like a champ.

She now attends school twice a week with five other special children. Watching her be part of something they never imagined possible fills Kirsty and Michael with pride. Every accomplishment, no matter how small, is a big victory.

Orla shares the deepest bond with her parents, who know her every glance and giggle. She also has a gentle, comforting relationship with her pet bunny, Binky, snuggling close whenever they’re together. She also adores her “Nanny”, Michael’s mother, who retired from nursing to help care for Orla. Nanny visits twice a week, and every time Orla hears her voice, she lights up. Orla also loves her “Nonna” and “Auntie Cai” and expresses her love in the most tender way by snuggling into you and smiling, her own way of saying “I love you”. 

If there’s one thing her family wants the world to know, it’s this: Orla is the absolute best. She is strong, brave, full of light, and she makes every moment more meaningful just by being in it. Kirsty and Michael are so proud and feel incredibly fortunate to have Orla as their daughter. She is their angel – their greatest gift – and they treasure every day with her. 

Written by Ashley Lira-Rivera (Student Ambassador)