Every parent knows the dangers a toddler can face as it unsteadily makes its way in the world.
Few of us can imagine what it is like for our child to remain like a toddler until the age of seven and beyond.
Two Derry children who have been diagnosed with a rare genetic disorder will never be steady on their feet and will require round the clock care for the rest of their lives.
Seven-year-old Grace Irvine and 15-month-old Charlie McCauley have the extremely rare genetic disorder Joubert Syndrome. It is so rare that it affects only five children in Ireland and approximately 700 worldwide.
Grace’s mum Julia told the ‘Journal’ that when her daughter was born she had an extra finger on each hand and an extra toe, which was made up of three toes. Doctors also noticed other physical traits indicating she had a genetic condition.
“When she was a baby the doctors thought Grace had an undiagnosed syndrome, which had the characteristics of two genetic conditions. We thought that it wasn’t going to affect her, that it was just had an extra gene. As time went on the medical team realised there was something underlying and Grace was referred for an MRI scan”.
This showed that Grace’s cerebellum, the part of the brain which controls balance and co-ordination, looked like a molar tooth, and this is one of the main characteristics of Joubert Syndrome.
“We found out the results two days before Grace’s sixth birthday. I was pregnant with my third child at the time and doctors told us there was a one in four chance of any other child we have being diagnosed with JS”.
Julia’s other two children were tested but have not been diagnosed with the condition.
“Someone must be with Grace all the times,” she explained. “During the day because she is a danger to herself and at night because she has rapid breathing and has started to have episodes similar to seizures”.
Grace’s development is very delayed and she doesn’t reach milestones at the same stage as other children. She took her first steps at the age of four, and requires the help of callipers on a daily basis or a wheelchair if a trip involves long distances.
While Julia wouldn’t change anything, she admits life with her daughter can be hard work.
Close family are the only people Julia can rely on for help with her daughter, who is unable to be left alone.
“It is difficult seeing children the same age as Grace because she will never be able to go out and play on her own. She always has to have us with her and that can be frustrating for her.
“JS is a life long condition and she is always going to need support. She is never going to be steady on her feet and Grace will always be a danger to herself because she doesn’t have the reflexes to stop herself from falling. My biggest worry is always who will look after her if anything happens to us. We just have to take each day as it comes”.
15-month old Charlie was diagnosed with Joubert Syndrome when he was just ten days old.
“My pregnancy had been brilliant and I did everything by the book,” explained mum Natasha.
“When Charlie was born he had an extra tag on each hand, which is essentially an extra finger. I panicked when I saw it because it was never picked up on my scan”.
Within hours of his birth, Charlie’s breathing became very rapid and he wouldn’t feed. Initially it was thought he had fluid in his lungs and Charlie was taken to Neo-Natal Intensive Care, a wrench for any mother.
“At that stage he was choking.
“I was in a wile state when he was put on a ventilator - his wee chest was going mad with each rapid breath”.
After numerous tests were carried out, Charlie was diagnosed with JS. Before she was able to take her baby home, Natasha had to be shown how to use a sleep apnoea monitor and learn how to resuscitate her child.
“I immediately thought I won’t be able to do this and I was really scared when I brought him home. Now I am just used to his ways. Nights are the worst and when he first came home I was unable to sleep because of the noise of his breathing. It is just part of everyday life for me now”.
Charlie has to be constantly carried about because he can’t stand or crawl and he’s not big enough yet for a wheelchair.
Both children’s lives are filled with regular hospital appointments across Northern Ireland and it was thanks to their medical teams that Julia and Natasha met. Since then they have provided a great deal of support to each other and comfort from knowing that another mum is going through the same thing.
The families also draw great support from Joubert Syndrome UK. However, at the moment this is a very small organisation which has not got enough funds to become a registered charity. Julia and Natasha are passionate about the organisation that has helped them so much.
“They have an online forum which allows us to find out about the latest research and talk to other parents. It is important to us that it is registered because it will open more doors and opportunities for the charity”.
They have set themselves the aim of raising £5000 to help JSUK become a registered charity and the first event will take place later this month.
A charity football match takes place at Leafair Pitch on August 17 at 12pm. A quiz night will also take place on September 5 at An Grianan. To get involved go to Joubert Syndrome Derry on Facebook.