Paula Connolly’s daughter Alex was born with CDKL5 deficiency disorder, a rare neurodevelopmental condition. She tells us of the difficulty in getting a diagnosis, the lack of supports available to families and her hopes that research being carried out in TCD will improve care for those affected
Alex Connolly loves food, going on drives and being out in the fresh air in her wheelchair. She also enjoys swimming and swinging and is a big fan of sensory lights and music, and when she smiles or allows herself to be kissed, it makes her mother Paula’s day.
“These are the things that make my heart skip a beat,” says her devoted mum, who has dedicated her life to her beautiful 25-year-old daughter, who was born with a rare, untreatable neurodevelopmental condition called CDKL5 deficiency disorder (CDD).
Paula and her husband Alan live in Bray and were delighted when the baby they named Alexandra was born after a trouble-free pregnancy. She cried a lot and also had reflux, and Paula began to suspect something more serious was wrong as her nephew was only a few days older and was reaching milestones far ahead of Alex.
“I brought her to my GP as she wasn’t starting to sit up and was also very floppy,” Paula recalls. “He told me not to worry as all babies develop differently, but there was a question mark at the back of my mind.”
When she was eight months old, Alex had her first seizure, which gave her parents a huge fright. She was admitted to Our Lady’s Hospital in Crumlin, where tests revealed that she had epilepsy and what was termed “global developmental delay”.
“It was like someone kicked me in the stomach,” says Paula. They took Alex home and tried to research what this meant for their little girl, although there wasn’t much information available at that point.
It was a case of figuring it out as they went along, as there was very little help available to them until Alex was two and her doctor enrolled her in Enable Ireland’s physiotherapy and speech therapy services. This led to Alex receiving a place at a playschool for children with additional needs, which, Paula says, was a lifeline.
Alex didn’t sit up until she was two and never talked or walked unaided, and she also cried a lot. She was tested for a lot of conditions, including Rett syndrome and Angelman syndrome. Alex was finally diagnosed aged 12 in 2007 with CDD, or to give the condition its full name — cyclin-dependent kinase-like 5 deficiency disorder. It’s a neurodevelopmental disorder caused by mutations in the CDKL5 gene, which provides instructions for making proteins that are essential for normal brain and neuron development.
The condition causes seizures that begin in infancy, followed by significant delays in many aspects of a child’s development. Most children affected by CDD can’t walk, talk or feed themselves and are dependent on others for everything.
Other common symptoms include visual impairment, sleep disturbances, sensory issues and gastrointestinal difficulties, as well as orthopedic complications from low muscle tone such as scoliosis (curvature of the spine).
The condition primarily affects girls (90pc) because the gene is located on the X chromosome, and females have two X chromosomes while males have one X and one Y. However, boys who have the condition are usually more severely affected. The condition isn’t hereditary, Paula explains, although the odd family exists with more than one child with the condition.
Only seven families with children who have CDD have been identified in Ireland, and all are female. Researchers believe the disorder to be underdiagnosed as it currently requires genetic testing. It is believed there are more children or adults with the condition in the country as it affects one in 40,000 live births.
“Alex is the oldest with the condition in Ireland, but I presume there are a lot of people over that age in residential care who have never been diagnosed,” says Paula, who, with Alan, started CDKL5 Ireland to support other families. “They might also have been clinically misdiagnosed with autism or conditions like Rett syndrome.”
One of the hardest aspects for her parents is that Alex cries a lot, and as she doesn’t speak, Paula and Alan have to try to work out why she’s upset or agitated.
“I’d love to get inside her brain for a few minutes to see if we’re missing something as parents,” says Paula.
While medics have suggested putting Alex on antidepressants and sedatives, her mum doesn’t want her sedated. She remains convinced that there is a reason for her daughter’s distress, which is very hard on her as a loving parent, because all she wants to do is fix the problem.
“Alex doesn’t cry from morning to night, but she could go through days of it,” says Paula. “The seizures don’t happen as often as they did but there could be a cluster every couple of months. She is so upset beforehand and you can see by her face that a seizure is building up, and then she’s happy and relaxed afterwards.”
Alex has been tested to see if something was causing her pain, but nothing was ever found. It was put down to being part of her condition, but Paula says that this wouldn’t be a typical trait. “A lot of the kids are mellow, bright and cheery,” she says. “There is a very small percentage who have the symptom of constant crying.”
When Alex was seven, Paula and Alan had another baby, Abbie, now 18. “I knew within the first hour that there was nothing wrong with Abbie, as she just slept and was fine,” she says. “Alex came into the world screaming in pain and agony.”
Paula has had to strive to ensure that Abbie’s needs are also met, as having a sibling with additional needs can be hard on children.
Abbie is a great help with Alex and can take care of her on occasion if her parents go out. Alan is a wonderful dad and Paula’s parents, Tom and Peggy, also have a great relationship with Alex and have been a brilliant support to the family. As Alex grew up, Paula admits to feeling lonely and isolated at times, watching her friends’ children reaching milestones while she was at home trying to soothe her upset child.
“It took me about eight years to accept that this is the way Alex is and I can’t change her,” she admits with great honesty.
Alex attends daycare at Saint John of God’s Carmona Services, and the family also receives five hours of care weekly. Paula is grateful that Alex is on the petite side, as there is a lot of lifting involved.
Prior to Covid, the family received 30 nights of respite per year, but they haven’t had it since March 2020. This frustrates Paula, she really needs additional help as both she and Alan get older, so she is currently “fighting” with healthcare providers around reinstating respite care.
“I have to think more about residential care, which I shouldn’t have to do,” says Paula. “I’m 52 and I should be able to look after Alex, but they’re not helping me. They’re driving people to put their children into residential care, which is heartbreaking.”
The positive news is that neuroscientists at Trinity College have identified previously unknown target areas for potential new treatments. Researchers are working hard to identify biomarkers and develop new treatments with the ultimate goal of finding a cure for the condition.
Trinity’s team is based at the Bianchi Lab and Ulysses Neuroscience Ltd in the Trinity College Institute of Neuroscience, under Dr Massimiliano Bianchi. The study of mice who lack the CDKL5 gene has been an invaluable tool in gathering insights into the molecular changes underlying CDD.
The team has found biomarkers that are measurable in both animal models and patients, which means that the progression of the disease can now be monitored in a non-invasive way, which is ultimately better for the patient.
Trinity is also planning to establish the world’s first dedicated CDD biobank for researchers around the world. It is anticipated that it will attract interest from industries that could lead to more funding being invested in developing new treatments for CDD and other neurodevelopmental disorders.
Paula’s dream is that the research would ultimately lead to Alex gaining some ability around speech so she could communicate what is wrong when distressed. She’d also love her to have more movement, and a cure found for the seizures.
“I would like doctors and consultants to know more about the rare conditions that are out there, and I feel there is a gap in services,” she says. “Alex only has a doctor for her epilepsy and nothing else, so I have to source help for anything else that affects her. Every day is a new fight and I feel there aren’t adequate services out there for families like us.”
For further information and support around CDD, see cdkl5.ie