Toddler thrives despite rare one in 200,000 condition

Ava Joyce, from Douglas in Cork, diagnosed at birth in August 2013 with rare genetic, diabetes condition

A Cork toddler born with the rare genetic condition of permanent neonatal diabetes has reached all her developmental milestones despite the odds.

Ava Joyce, from Douglas in Cork, was diagnosed at birth in August 2013 with the rare genetic condition, which affects one in 200,000 babies.

A battle fought by herself, her mother and medical staff at Cork University Hospital has resulted in Ava growing and developing as she should for her age.

Consultant paediatric endocrinologist Dr Susan O’Connell said this was multidisciplinary teamwork at its best. “Due to recent improvements in paediatric diabetes services at Cork University Hospital, we successfully treated Ava, despite her having an extremely rare and challenging condition.”

Ava's mother, Maeve Joyce, said her daughter tested positive for diabetes four days after she gave birth. A few days later, she was transferred to the high-dependency unit in the children's ward at CUH to stabilise her condition.

Doctors got Ava’s blood sugar under reasonable control over the first three weeks of life.

Meanwhile, Dr O’Connell had recognised that Ava’s type of diabetes was a rare genetic form called neonatal diabetes.

With Dr Stephen O’Riordan, she made contact with Exeter Genetic Services at the University of Exeter. When the genetic test results came back, they confirmed neonatal diabetes, albeit a particular type which had never been diagnosed before.

Weaned off insulin

“The consultants, specialist nurses, ward nurses and their wider team kept in close contact with Exeter Genetic Services as they trialled a different diabetic medication to try and wean Ava off insulin,” said Dr O’Connell.

By October 2013, the medication was not working so the team put her on an insulin pump, a mini-computerised device that infuses insulin under the skin and optimises the blood glucose control.

This is now frequently used in children at CUH with the most common form of diabetes in childhood, Type 1 diabetes.

Eventually the insulin pump allowed Ava to go home but as she was so small her blood sugar had to be checked every two hours.

Meanwhile, Dr O’Connell and her colleagues were not satisfied with the pump as a long-term solution for Ava so behind the scenes they researched why the medication had failed. They eventually discovered the correct formulation for Ava in May 2014.

She now takes an oral medication three times a day.