Shaun, age three has been diagnosed with a rare genetic condition, ABHD16A.
Hollie Seward, a nurse from Oysterhaven, noticed when her son Shaun wasn’t hitting his six and nine month milestones. Baby Shaun had not begun to roll-over, sit up, or hold his own head up.
Hollie and her husband Kevin, who live in France with their son, flagged these concerns with their paediatrician who dismissed Shaun and said he was lazy. This didn’t sit right with Hollie, her medical knowledge was telling her that these delays were cause for concern. A second paediatrician agreed, and when Shaun was just one year old he began intensive physiotherapy.
By the time Shaun had turned two he was stuck in limbo, he was not regressing, but had made no progress in physiotherapy. Shaun had also begun speech and language therapy because of his difficulties in making sentences. This prompted some genetic testing for the whole family, which turned up empty. This was incredibly distressing for Hollie who was watching her son struggle and receiving no answers.
“Everything came back normal, and that was worse because we were like, this is just never ending.”
“There’s this big ‘Congratulations there’s nothing wrong with him’ but also we’re still in the same spot.”
“I basically just freaked out”
In France children begin school at the age of three, with this fast approaching for Shaun, Hollie pushed for more genetic testing. Hollie needed answers, and she needed to put supports in place for her son. Their paediatrician resubmitted Shaun for a more extensive form of testing, and ordered new MRI scans of his brain. When Shaun turned three in March 2026, Hollie got her first answer in two years.
“I was hoping for someone to say it to me, but I wasn’t ready to hear it.”
Newer scans of Shaun’s brain revealed a structure that was not as developed as a typical three-year-old brain. While this news was tough for Hollie and Kevin, this was the first piece of evidence pointing toward a diagnosis for their son.
Genetic testing was expected to take up to one year before any results were found. Luckily they came back much sooner. The phone call finally came to say they had found a condition. Just three weeks ago Hollie and Kevin were called into their paediatrician’s office to discuss the findings. Hollie described how scared she was when eight doctors and a psychologist were there to break the news.
“I just looked at my partner Kevin, and I said ‘This is going to be crap. If there’s a psychologist here, it’s not good.’”
Shaun was diagnosed with an extremely rare condition ABHD16A deficiency, something both his parents unknowingly carried on their 12th chromosome. Shaun is the 19th person in the world to be diagnosed with this condition. Very little is known about this genetic variation, leaving Hollie searching for answers. Her younger sister Kellie, also a nurse, is doing as much as she can to find any research that might help.
This was disappointing for Hollie and Kevin, despite finally having an answer. They had been waiting for two years only to find out that Shaun’s condition has hardly been researched, meaning there is no established treatment plan moving forward. It has even proved difficult to track down the other families with ABHD16A.
“The hardest thing is that there’s no concrete information about any of the other children who have this diagnosis.”
“It’s not like we’ve been given a diagnosis about an illness that is really well known, and there’s been loads of research about it.”
“One of my very first questions was ‘Is there a cure for this?'”
“The team were as lost as we were, they just really don’t know”
Due to his condition, Shaun has intellectual disabilities along with physical difficulties. When he attends school in September he will use a wheelchair, and require a full-time SNA for learning support. Shaun attends physiotherapy and speech and language therapy in the neighbouring city every week which his medical team is hoping to increase. These extra therapeutic sessions have a heavy travel burden for Hollie and Kevin, who live 45 minutes from the city.
Receiving this news has been incredibly difficult for Hollie and her family. Hollie says she feels like she’s stuck in ‘work-mode’, trying to do as much as she can for Shaun to improve his quality of life and make sure he’s as happy as can be.
“For him to walk, that would be my dream.”
“He’s just sitting down the whole time. He’s not experiencing things like kids his age should be experiencing things.”
Hollie’s hope for Shaun is that he might walk, and get to experience life like all the other children his age. Shaun will soon receive a custom built walker to help him strengthen his hips and legs. This should help him start to walk at home. Most children diagnosed with ABHD16A deficiency do walk, but due to the neurodegenerative nature of the condition they eventually lose their mobility. Hollie and Kevin are trying as hard as possible to prolong Shaun’s mobility and help him live life to the fullest.
“He’s just the best child ever. He’s an angel child.”
Hollie has set up a GoFundMe page to fundraise for the accommodations that need to be made for Shaun. Her main concern is replacing their small family car that will fit Shaun’s wheelchair, this is especially important for getting Shaun to and from school and therapy. As Shaun’s mobility decreases he will need more equipment to help him get around. They will also need to relocate to a wheelchair accessible home in the near future to ensure Shaun is safe. Hollie hopes that she can spread awareness for Shaun’s condition, and advancements in research for ABHD16A.
To donate to Hollie’s GoFundMe click here.
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