The first few years of a child’s life are filled with unforgettable moments – from their first word to their first steps. But for children like Maggie, there is no bigger moment than their first meal.  

At just six months old, Maggie was diagnosed with an incredibly rare genetic condition called Ornithine transcarbamylase deficiency, known simply as OTC deficiency. The condition, which affects up to one in every 77,000 people, means that Maggie can’t process protein. This causes high ammonia levels and life-altering symptoms like nausea, fatigue and, at its very worst, brain damage. 

“We found out at about 20 weeks that Maggie had a genetic deletion which would cause ongoing health issues once she was born, but we didn’t know exactly what those issues would be,” explained Jessica, Maggie’s mum.   

While the rest of the pregnancy continued without concern, the expectant parents, Jessica and Jarrod, were understandably overwhelmed with what this mystery diagnosis might mean for their little girl’s future.  

After months of tests, Maggie was officially diagnosed with OTC deficiency. She was immediately placed on a strict diet, which was predominantly made up of formula.  

“Depending on her weight, Maggie was given a total of how much protein she could have per kilogram. She needed to have enough protein to grow and form muscles but couldn’t have too much protein that it turned to ammonia for it to cause brain damage,” Jessica explained.  

“We had to give her medicines, formulas, and calculate all her food every day because it couldn’t be too high in protein. But the whole time, she didn’t want to eat. That was really challenging when trying to balance calories,” she added. 

For the first four years of Maggie’s life, the family managed this delicate balancing act. But devastatingly, Maggie kept getting worse. 

“She was having quite extreme symptoms of OTC and vomiting nearly every day. We were in and out of The Royal Children’s Hospital (RCH) constantly. We would be admitted for a couple days, home for a night and then back in. One year, we had around 40 admissions,” recalled Jessica. 

“We knew quite early on that a liver transplant might be needed. It eventually got to a point where she was always in the hospital, and everyone knew that this was not manageable. So, she was put on the transplant list,” she added.  

A few weeks later, and after what felt like a lifetime, Jessica received the life-changing news – her four-year-old was set to receive a new liver.  

“It was scary, but it was also just such a massive relief. She was suddenly just able to eat, and our whole life wasn’t just swinging around the multiple feeds and medicines – everything just got a lot easier,” Jessica shared.  

Today, one year after her liver transplant, Maggie’s life has changed drastically.  

“Maggie’s now thriving. She’s got a few minor procedures coming up, but she’s doing really well and can eat anything she wants. She can finally just be a normal kid,” Jessica said. 

Maggie and her family – Quinn, her sister; Jarrod, her father and Jessica, her mother

Not only has the toddler been able to enjoy the simple pleasures of protein-based food like chicken and spaghetti bolognese, but she has also only been admitted to the RCH for just two nights the entire year – something Jessica is incredibly grateful for.  

“People were always like ‘oh it’s just a food thing,’ but it was really hard seeing her so sick. Our life has changed,” Jessica explained. 

The RCH has made a huge impact on Maggie and her family. Although the toddler’s hospital journey will continue for a while longer, Jessica is very thankful to donors for helping provide children like Maggie with world-class care. 

“There are so many generous people out there, and it’s life-changing for all the kids that go there. We wouldn’t be here without them,” she said.