Dromara family raises awareness of rare condition

At just 36 hours old, Georgina was diagnosed with Hyperinsulinism, a condition that hadn’t been seen in Northern Ireland for some eighteen years.

“When we found out that our daughter was the only child in Northern Ireland to have Hyperinsulinism it was a very isolating feeling for us,” explained Georgina’s mother Christina.

“We were relieved to be put in touch with the Great Ormond Street’s HI team in London and we continue to attend GOSH each year for review and consult them on any changes to medication.

The condition of Hyperinsulinism starves the brain of blood sugar and can lead to lifelong brain damage or permanent disability and in Georgina’s case resulted in associated epilepsy. This is due to the over-production of insulin from the pancreas causing a hypoglycaemic episode.

Georgina has to have her blood glucose monitored and receives nine doses of medication a day and would, in the past, have taken seizures every six to eight weeks, which usually end up as an ambulance admission to A&E at the Royal Belfast Hospital for Sick Children in Belfast.

Georgina, a P6 pupil at Fair Hill Primary, leads a relatively normal life, and is an enthusiastic member of a number of after school activities. However, she can’t be left on her own and needs constant supervision.

“I am always with her at all her activities like Girls Brigade, Tae Kwan Do and after school activities, unless there is someone else there who is trained to look after her and she has a dedicated Classroom Assistant at school,” continued her mother.

However, the Dromara family have spent the past ten years since Georgina was diagnosed raising awareness of the condition and fundraising to support research into finding a cure.

Also, after the diagnosis of several other children in recent years, the local family decided to set up a support group.

“We have been aiming to raise awareness, and with four more families in Northern Ireland now affected by the condition we have set up a support group www.nihig.com,” explained Christine.

She is also campaigning for a new medical protocol to be introduced, which could help to prevent long term damage caused by the condition.

A new medical paper calling for blood tests to be carried out immediately on newborns could prevent HI causing damage and Christine is keen to see this implemented. “If the blood sugar tests had been done earlier then Georgina’s epilepsy could have been prevented. I want to stop other children being affected that way,” she said.

The family are also very grateful to their local community in Dromara, who have been a great source of comfort and encouragement over the years.

“I’m so thankful to the local community who have practically and prayerfully supported us, not only in the times when Georgina has taken seriously ill, but also on a day-to-day basis,” added Christine.