Ricky

At just four-months-old Ricky received a diagnosis that would change his life forever.

Ricky has CDKL5 deficiency disorder and was born missing a protein essential for brain function. His rare condition is characterised by epileptic seizures, low muscle tone, and developmental challenges.

His mum Caitlin and dad Tristan first noticed the warning signs, when Ricky wasn’t meeting developmental milestones around six weeks old.

“Typical milestones like smiling, making eye contact or starting to have some neck control were things we noticed Ricky wasn’t doing yet,” Caitlin said.

“Paediatricians at the time wanted to give him until the eight-week mark before we began testing for a possible diagnosis,” she said.

But it was shortly after this initial check up, Ricky experienced his first seizure which resulted in a trip to the Queensland Children’s Hospital.

Months of extensive genetic testing, even sending Ricky’s results overseas, confirmed he had a mutation on his CDKL5 gene.

“Ricky's diagnosis was unexpected. We had no indication during pregnancy or in the early stages of Ricky's life that this would be something we would experience,” Caitlin said.

At five-years-old, Ricky uses a wheelchair for support, is fed by a tube and is unable to communicate verbally. His rare condition also causes Ricky to have ongoing, unpredictable epileptic seizures.

The family work closely with the neurology department at Queensland Children’s Hospital, constantly are trying a variety of different treatments that enhance Ricky’s quality of life.

When he was four, Ricky had a Vagus Nerve Stimulation (VNS) device implanted for his epilepsy, which sends regular, mild pulses of electrical energy to his brain. Ricky is also on a regime of medication as well as a closely monitored diet which have resulted in a reduced amount of seizures.

Thanks to his ongoing treatment, Ricky can attend school four days a week, even catching the bus to and from. Ricky also enjoys hanging out with his cousins, family and friends and enjoys swimming in warm water.

Each day is still unpredictable for Ricky and his family though. The 5-year-old’s fully reliant on others for all his daily activities.

“On a bad day he can have up to 20 seizures which exhaust him and cause him to be extremely lethargic,” Caitlin said.

Despite his ongoing challenges, Ricky is a very calm, content 5-year-old and much loved by all, especially his big brother Hayden.

“We have relied heavily on support from our family and friends, and we have also found friendships in families who are on a similar journey to ours,” Caitlin said.

The hopes for Ricky’s future include completing school and continuing the reduction in his seizures and hospital stays.