VIDEO: Hope for brave tot with rare genetic diabetes condition

When Ava Joyce was born, she was diagnosed with a rare genetic condition called permanent neonatal diabetes.

VIDEO: Hope for brave tot with rare genetic diabetes condition

This condition affects one in every 200,000 babies, resulting in restricted growth in the womb and a small birth weight once born.

Baby Ava, however, was found to have a certain type of permanent neonatal diabetes that had never been diagnosed before — finding her the right treatment became an even greater battle.

Despite the enormous challenge of dealing with this condition, Ava was successfully treated in Cork University Hospital (CUH) and, after 11 months, was finally able to go home. She’s now on medication for her condition instead of a permanent insulin pump.

Ava’s mother Maeve, from Douglas, Co Cork, said she first noticed that something was wrong during her third trimester.

“By 28 weeks, I didn’t get that big expansion. It was my second pregnancy and probably if it wasn’t my second pregnancy I would have thought, ‘This is great, I’ve a tiny bump’, but on my first pregnancy I went to 15-and-a-half stone and I knew that this wasn’t right,” she said.

Maeve shared her concerns with the antenatal team at CUH. She was sent to the foetal assessment unit and monitored closely for the rest of the pregnancy. Four days after birth, Ava tested positive for the rare form of diabetes.

When Maeve first learned of her daughter’s condition, she didn’t fully realise the implications.

“I had no idea, realistically, what diabetes entailed. I only knew two types and you inject yourself and you don’t eat sweets — that’s what I actually thought.”

For the first few weeks, the most important thing was to get Ava’s blood sugar under control. In the meantime, Dr Susan O’Connell and Dr Stephen O’Riordan, consultant paediatric endocrinologists at CUH, made contact with Exeter Genetic Services, an internationally recognised centre of expertise.

“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 said.

“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,” said Maeve.

“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.”

Now 18 months old, Ava takes oral medication three times a day and her diabetes is completely under control. She has reached all developmental milestones and is growing as normal for her age.

- International Rare Disease Day takes place on Saturday, February 28.

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