DeSanto-Shinawi syndrome: Family of William Lovell call for support to send son to US for research project

William Lovell has a disease so rare there is no over-arching medical study for the neurodevelopmental disorder. A research project in the US is hoping to change this but his family need help to raise the money to get William there to take part. The Perth four-year-old lives with DeSanto-Shinawi syndrome — a mutation of the WAC gene that causes a failure to produce a much-needed protein for cellular and DNA processes in the body. This leaves little William and the fewer than 200 people diagnosed globally with a plethora of symptoms including global developmental delay, low muscle tone, behavioural problems, intellectual disability, feeding difficulty, and seizures. It took his mum Kate Lovell over 10 minutes to list off all of William’s symptoms, which have impacted him since the day he was born. “He’s got very low tone in his mouth, tongue, jaw, and throat, which meant he has struggled to feed since he was a newborn,” she said. “He has a speech delay and is now talking, which I can understand but to anyone else it sounds a bit garbled as he can’t move his tongue and mouth to have clear speech. “His muscles throughout his body have to overwork to do what they’re doing so they tire a lot quicker.” He also deals with seizures, gastrointestinal issues, and he has been diagnosed with autism, which is a common comorbidity of the disorder. The disease has left the family with many questions about how it will impact William’s future, which are currently unanswered due to its rarity. William will be at the forefront of helping to answer these questions when he goes to the DESSH Foundation research clinic in St Louis. “We don’t know yet whether it is a spectrum or how it works because there’s so few people worldwide diagnosed with it,” Mrs Lovell said. “William going doesn’t immediately benefit him but it will benefit children younger than him and the research on older patients will help William. “It will mean there will start to be a clearer picture of what this disease looks like through the different age demographics and different ages of diagnosis.” The research is hoping to find whether an earlier diagnosis and early intervention leads to less high care needs as they get older. The Lovell family are asking for help to get to the US as Mrs Lovell has not been able to work since William was born. “If we at least get international flights covered that would be great but if we receive extra money we will be able to do extra medical things like I would love to be able to take him to the Mayo Clinic over there,” she said. “They’re at the forefront of research on the connection between the brain and the mouth.” While at the moment DESSH is considered extremely rare, that may be because of the lack of genetic testing available to those with symptoms. DESSH Foundation president Caitlin Piccirillo said the organisation only began in 2016 when her son was diagnosed with the disorder. “Genetics is brand new in terms of the medical field - without that testing in place there wasn’t any other way to determine or discover what this was even 10 years ago,” she said. “Now that we have this label we’re hoping for it to become more widely known in the medical field as it’s still an unknown to many doctors.” She said the research for William and other participants would include clinic visits, meetings with specialists, and the option to donate tissue and blood samples for lab research.