22nd March 2017
How many of us can leave work each day knowing we’ve made a difference?
For the over 100,000 people who work together in our health service, that’s just what they do every day. For the Joyce family in County Cork, this teamwork changed their lives, and opened up a brighter future for their daughter Ava.
“Cork University Hospital saved Ava’s life,” her mum says, “the entire team made huge efforts with her care and she’s thriving now thanks to them. That all meant so much to me. I wouldn’t have got through it only for them.”
Born in 2013 with with neonatal diabetes mellitus (NDM), a genetic condition so rare that it occurs in only one in 200,000 births, Ava Joyce spent the first year of her life confined to the children’s high-dependency ward at Cork University Hospital. Suffering from a genetic form of NDM never before diagnosed in Ireland, Ava had to be kept under strict one to one intensive care, while an international team led by Dr Susan O’Connell worked to find an alternative to the insulin pump that kept her confined to hospital. After months of research, in May 2014 the team came up with the winning solution. Ava could now be weaned off the insulin pump that had kept her in hospital and return home for the first time, this time for good.
Now, Ava takes her medication twice a day and hasn’t been back to hospital since, having 6 monthly checkups at the local Paediatric Diabetes clinic instead. This international collaboration on a very rare disease meant that the exact nature of Ava’s condition could be explored and her treatment tailored to her underlying genetics. “This was an example of personalised medicine,” Dr. O’Connell says.
“Ava is going from strength to strength and reaching all her developmental milestones, which we’re delighted to see.”
With the establishment of the
National Rare Diseases Office in June 2015, Dr. O’Connell hopes that there will be more support available for children like Ava, and that the discoveries that her team made while studying Ava’s rare genetic condition will help both doctors and patients who come up against similar issues in the future. #ourhealthservice