Parents of sick child plead for help

A NORTHSIDE couple are pleading for help to further the research being carried out into their eight-month-old son’s rare illness.

Mark Fitzpatrick and Wendy Griffin’s world was turned upside down on July 22, 2013, shortly after baby Eric was born in the Rotunda Hospital.

Just 21 hours after he was born, Eric started having seizures. It was soon discovered that he had KCNQ2 Encephalopathy, a rare form of epilepsy.

KCNQ2 is a gene involved in the proper functioning of a potassium channel in the brain. Abnormal changes, or mutations, in the gene are associated with seizures.

According to Eric’s father, his son is one of only 90 cases in the world, and was the youngest person diagnosed with the condition. It is also believed his is the only known case in Ireland.

Mark, from Donaghmede told Northside People:

“It’s a very rare condition. Only five of the 90 people who have it can walk, and only three can talk a little bit.

“When Eric was born, everything seemed fine. Then complications were noticed after 21 hours. He was having seizures on a regular basis. As a result, he was in intensive care for two weeks, and it was six weeks before we were able to get him home for the first time. Since then he has been back and forth to Temple Street.

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Eric’s disabilities include an inability to sit up, lift his head, difficulty with muscle tone and developmental delay.

“His head control is quite bad,

? said Mark.

“He has strong arms and legs but the problem is in the middle of his body.

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Mark said life for himself and his family, which includes their other son, 10-year-old Nathan, has been very difficult since Eric was diagnosed with his condition.

“I cannot begin to explain the massive impact it has had on our lives,

? he stated. Our world was ripped apart when we got the news.

“Wendy had to give up her job to become a full-time carer while I was only able to go back to work when Eric was eight-weeks-old.

“We had to live in the hospital for a while, and we cannot thank Temple Street enough for their support. They have been outstanding, absolutely fantastic.

“The Jack & Jill Foundation are providing us with five hours a week respite and that’s quite a lot to us. They’ve been a great support at this difficult time.

“We are overwhelmed by the support and prayers from family, friends and strangers.

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Eric, whom his father describes as a happy child, has also been referred to the Central Remedial Clinic (CRC) in Clontarf. Currently, he needs physiotherapy and occupational therapy on a regular basis at Temple Street.

In the midst of their heartbreak, Eric’s parents got a breakthrough they so desperately needed when they discovered the Jack Pribaz Foundation in America.

The group – also know as

‘Jack’s Army’ – was founded in January 2012 in the name of Jack Pribaz, a boy who suffers from epilepsy caused by an extremely rare genetic mutation.

“It was a massive boost for us to find out about them,

? said Mark.

“Jack’s Army put us in touch with a support group on Facebook and this has made a huge difference,

? said Mark.

“We are now in touch with around 45 other families and that has been a great source of comfort for us.

“It means we can ask questions and get answers straight away which in turn can help us manage Eric. It also means we can stay one step ahead with Eric’s treatment.

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According to Mark, Dr Edward Cooper, an Associate Professor of Neurology and Neuroscience, based in Houston, Texas, is heavily involved in research into KCNQ2 Encephalopathy.

He also believes there is a possibility that there are more people who have the condition.

“Dr Cooper has recently discovered that many people with Ohtahara Syndrome may also have the KCNQ2 mutation and not be aware of it,

? said Mark.

“People who had seizures from birth to approximately four-years-of-age, developmental delays and maybe autism should speak to their doctor about a simple blood test to determine if they have this.

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Mark added:

“I know this might sound bad, but the more people that are diagnosed with KCNQ2 Encephalopathy the better because it will shine a light on it, and might lead to more research being carried out which would ultimately help Eric’s cause.

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*If anyone would like to get in touch with Mark, they can email him at ericsheroes@gmail .com