A baby born with a rare form of diabetes that only affects one in every 200,000 infants, has been successfully treated at Cork University Hospital (CUH).
Ava Joyce from Douglas in Cork is now 18 months old, but in August 2013, she was diagnosed with the rare genetic condition, permanent neonatal diabetes. While this condition is well recognised and researched worldwide, the specific genetic explanation for Ava's form of the disease had never before been described.
According to Ava's mother, Maeve, she felt there was something wrong during the pregnancy as she was not growing as big as she thought she should be.
"I shared my concerns with the antenatal team at Cork University Maternity Hospital. They listened to me and sent me to the Foetal Assessment Unit and monitored me closely from then on during the rest of the pregnancy. Four days after I gave birth to Ava, she tested positive for diabetes," Mrs Joyce noted.
A few days after that, Ava was transferred to the high dependency unit in the children's ward of CUH so that her condition could be stabilised.
"With huge support from a team of junior doctors, nurses, dietitians, pharmacists, biochemists, and other staff at CUH, we eventually got Ava's blood sugar under reasonable control over the first three weeks of life," explained Dr Susan O'Connell, a consultant paediatric endocrinologist at the hospital.
She describes Ava's care as ‘multidisciplinary teamwork at its best'.
"Due to recent improvements in paediatric diabetes services at CUH, we successfully treated Ava, despite her having an extremely rare and challenging condition. Fortunately we were in a position to provide all her treatment in Cork so she didn't have to travel elsewhere,' Dr O'Connell pointed out.
Because of Ava's age, Dr O'Connell had recognised immediately that this type of diabetes was a rare genetic form. She had previously seen a similar case in Australia.
She and fellow consultant paediatric endocrinologist, Dr Stephen O'Riordan, contacted Exeter Genetic Services in the UK, which is recognised internationally for its expertise, in an attempt to discover the exact nature of Ava's condition.
Genetic tests confirmed neonatal diabetes, however it was a type that had never been diagnosed before. This proved a major challenge as it was unclear how Ava would respond to treatment.
"From the outset, the staff took up the battle to stabilise Ava's condition. The consultants, specialist nurses, ward nurses and their wider team kept in close contact with Exeter Genetic Services as they relentlessly trialled a different diabetic medication to try and wean Ava off insulin", Dr O'Connell explained.
However, by October 2013, the medication was not working and Ava was given an insulin pump, a small medical device that delivers insulin under the skin, helping to maintain blood glucose control. Insulin pumps are often used to treat the most common type of diabetes found in children - type 1 diabetes - but Ava was both the youngest and smallest child to have used one.
Both staff and her mother had to learn how to use the pump safely, but Ava was eventually allowed home.
"Ava came home firstly for afternoons so that I got used to checking the pump and then gradually for a few nights a week. My family and friends provided wonderful back-up support and helped out with Ava's big sister Leah. The HSE's Community Services team also came on board and provided some home nursing care at night, which provided a reprieve from the two-hourly wake up call to check the pump. This was invaluable," Mrs Joyce said.
Dr O'Connell and her team did not want to have to rely on the insulin pump as a long-term solution, so they set about researching why the previous medication had not worked. Working with colleagues in Exeter and the University of Oxford, they came up with a winning formulation in May 2014.
Ava was admitted to hospital for the last time that month and was taken off the insulin pump. Two months later, she was permanently discharged. She now takes oral medication three times a day and her diabetes is under control.
She has not had to be admitted to hospital since.
According to Dr O'Connell, this is a great example of ‘personalised medicine, where knowing the underlying genetic problem can guide the specific treatment'.
"Ava has not been admitted since her final discharge from hospital 11 months after her birth. She is thriving and reaching all her development milestones like any other child of the same age, which shows that rare disease are challenging, but can be managed by supporting research into new treatments, providing proper training and the best nursing, medical and ancillary care. CUH was able to provide all of those for Ava," Dr O'Connell said.
Meanwhile Mrs Joyce has praised staff for their dedication and support.
"I wouldn't have got through it only for them. It was trial and error with the different medication but they discussed everything with me in advance and got my agreement on all her treatment. The entire team treating Ava made huge efforts with her care and other staff, including portering and housekeeping, would ask about her on a daily basis. That all meant so much to me. CUH saved her life," she said.
Ava's case was highlighted by the hospital in advance of International Rare Diseases Day (February 27).