FOUR years ago, eight-year-old Maia Malone was diagnosed with CDKL5 disorder, a rare neurological condition that affects at least four people in Ireland and more than 800 people worldwide.
On Saturday, June 20, the third annual CDKL5 charity walk will start at People’s Park at 1pm, heading to Arthur’s Quay Park and back. The awareness event will start by planting a shrub in People’s Park to honour those affected by the disorder in Ireland.
Maia’s mother Jonna says that she has been unwell ever since she was born; she was treated for epilepsy since she was just a couple of weeks old. However, the doctors did not find out she was suffering from the uncommon condition until a blood sample was sent to Cardiff, in Wales.
The disorder is caused by the mutation of the CDKL5 gene, which has brought about “very difficult epilepsy” for Maia, amongst other severe symptoms.
According to Jonna, Maia suffers from refractory epilepsy, which means it is “drug resistant”.
“She has several seizures daily, and no matter how many times they give her medication, it doesn’t work. She is on several types of medication to keep the seizures under control. With that, she has a vagus nerve stimulator which she has on her chest, which is a bit like a pacemaker for the heart. It sends electrical impulses into the brain to try and retrain the brain not to have seizures,” she explains.
As well as daily seizures, young Maia suffers from gastrointestinal problems, bruxism, apraxia, sleeping disorder and visual difficulties.
Jonna says when she was first undergoing these symptoms, she and her husband Brendan did not understand why it was happening until the diagnosis, four years ago.
“She has a lot of problems with digesting food and there can be complications with the bowels, so while we are seeing a neurologist for her epilepsy, we are seeing a gastroenterologist for her bowel problem. She has a problem with her vision, where she has a squint in her eye. She has a sleeping disorder.
“She can’t sleep as her brain doesn’t switch off in the way that normal people’s brains switch off. She has bruxism, where she constantly grinds her teeth. And that’s something that you see regularly with the condition. She also has difficulty controlling her movements and that is apraxia. Even though her brain may know that she wants to walk, it’s not able to send the proper signals to her body to move in a coordinated way like we can. They can’t control their bodies fully,” she added.
Maia, who attends St Gabriel’s School, is constantly going to hospitals all the time, seeing different specialists, her mother says. As a result, her father Brendan is her full-time carer because “one couldn’t hold a full-time job” while ensuring Maia sees every appointment.
This week, Maia is undergoing surgery to get a lump removed from behind her ear. However, it has taken a year for her parents to see it happen.
“You need to chase up yourself. There’s nobody coming to check with you. You need to be on top of things yourself. Sometimes you are waiting if you are going through the medical card system, and you are often waiting for months and months.
“We have a system, but it’s a long, slow, cumbersome system. For example, Maia needs a lot of equipment, and even though she has been assessed for a wheelchair, we know it’s going to be an 18-month wait before she gets a wheelchair.”
Maia’s teacher, Niamh Cooke says she has been teaching the eight-year-old for more than three years, and has seen her personality develop through the years.
“She’s a little cheeky sometimes. If she is walking around the classroom and sees a door open, she will start walking towards the door. She’s very curious and she just loves having fun. If she’s over at the mat playing and I am with someone else, she’ll crawl over and climb and ask to play with you, so she is very playful and loves one-to-one interaction. She is a people-person. She doesn’t like being by herself. She loves playing with everyone.”
Head teacher John Murphy says that Maia is an “amazing young learner” who is overcoming her barriers in the school.
“We have people aged four to 19, who I suppose have a variety of barriers to learning. We try to never the use the word at school ‘disability’. Rather we talk about a ‘different ability’. Maia would be prime example of that; a learner with a different ability and various barriers to learning, and our job is to lead learners so that she overcomes those barriers.”
Likewise, Jonna says that her daughter “loves people” and commends St Gabriel’s for helping her engage more with other people.
“She loves people. She’s either going around to her younger sister or one of us. She loves cuddles, she loves hugs, and she will always climb up into our laps and will always want hugs and kisses.
“The school is a lifeline for her and a lifeline for us. When she is in school, she is engaging with other children and she is engaging with other adults, and since she has gone to school she has become more engaging,” she explains.
The annual charity walk will leave People’s Park, with the CBS Pipe Band leading the way, at 1pm. For more information on the event, call Jonna at 085-1751005 or Catherine at 087-9774826. For more information on CDKL5 disorder, visit www.cdkl5.com or visit www.curecdkl5.org.