Many parents will say how underprepared they were when starting their family, but few have gone through anything like the Cliffords.
When Belinda and Hugh welcomed their daughter, Ashley, doctors said she may never walk – among many other complications.
Within the first two years of her life she saw more than 30 specialists, but it took almost nine years for her diagnosis, Beck-Fahrner Syndrome. Now the Cliffords are seeking help to get Ashley to the United States, where researchers from John Hopkins University in Baltimore are hoping to learn more about the rare genetic disorder discovered in 2020.
“Ashley was always known as the little strong one [around the hospital],” Belinda says. “It was not uncommon to have eight people holding her steady just to get an x-ray or blood test.”
Ashley’s resilience is hardly surprising once you understand the amount of support she has behind her. Hugh left his Navy career so he could be closer to home, and Belinda scaled back her work in the government.
“It was the right choice and a very easy one to prioritise family over work,” Hugh says. “Yet even after all these years, we’re still trying to find that delicate balance between work and supporting the family, especially Belinda.”
On top of up to 14 appointments every fortnight, Belinda spends a great deal of time working through the administrative matters for Ashley’s NDIS support.
“We pull a lot of late nights and early mornings in order to meet all of her needs,” Belinda says.
But they persevere with the help of their youngest daughter Sophie, and Ashley’s “unique, dry sense of humour” and “very affectionate” nature, Hugh says.
For many years they were desperately trying to find the cause of their daughter’s afflictions. The first clue came in 2018 when Ashley had her genetic sequence mapped which found a mutation in her TET-3 gene.
Finding her condition was not inherited, but unlucky, proved bittersweet for Belinda and Hugh. They now knew the root cause and that Ashley would need a great deal of support into the future. Later that year, an American case study found 11 other known cases with the same challenges as Ashley. But even amongst the medical community, little was known.
“It reflected her poor growth, intellectual disability, autism, ADHD, issues with her kidneys, eyes, feeding, and high palate, the list goes on,” Belinda says.
One night just before Christmas last year, Belinda was skimming research papers on the couch. Someone had identified Ashley’s particular genetic mutation, and even established a research foundation.
“In that moment, I just couldn’t stop reading.
“It started to materialise from a rare and misunderstood example of a person, to being part of a group under a particular syndrome that can share experiences of what it means for the individuals later in life or how to best support them through their development.”
Beck-Fahrner Syndrome has a variety of features but can potentially be best understood using the acronym BEFAHRS: Behavioural differences; Epilepsy; Facial features; Autistic features; Hypotonia; Retardation of psychomotor development; and Size differences.
About 50 people in the world have been identified with it, and Ashley is one of two in Australia. While there is no cure, her diagnosis has given the Cliffords a greater ability to monitor and treat her symptoms.
When the syndrome’s foundation was reviewing Ashley’s medical history, it identified a few differences never seen before. As a prime candidate for research, Ashley and her family have been invited to John Hopkins University.
To help them get to the US later this month, Belinda has set up a GoFundMe with a goal of $40,000 (which at the time of writing sits at $13,000).
“The idea for us getting involved in the US research isn’t just that it may help out Ashley,” Belinda says. “Maybe it’s too late to help out Ashley. We’re really there to get her involved in helping other families out there who are struggling.
“Having a child with a disability certainly has its challenges. People often label them as the naughty child, and you are judged like no tomorrow in everything you do. But you really don’t know what those people are going through.
“We don’t see her as this sufferer of this syndrome, because she does joke with us, she does interact with us, and although it’s limited, she’s still just as much part of the family and community as anybody else is.”