Charleigh Hayes has a smile that lights up a room and a personality to match. But it is her delightful little face that is of particular interest to one Newcastle geneticist.
And not just her face, but also the faces of the many children worldwide with rare and undiagnosed diseases.
You see, no one can quite figure out what is wrong with Charleigh, who is six and has an undiagnosed form of intellectual disability. She lives in Raymond Terrace with her parents, Garry and Ainsley Hayes, and her sister Sarah, 8.
Dr Tracy Dudding-Byth, a clinical geneticist at Hunter Genetics, is determined to help children like Charleigh and believes her groundbreaking Face Diagnosis project is the key to unlocking the diagnostic door.
Rare diseases are those that generally affect fewer than one in 2000 people, often begin in childhood, are disabling or life-threatening and can be difficult to diagnose. Dr Dudding-Byth has concentrated her research on children with moderate to severe intellectual disability, 30 to 50 per cent of which have associated craniofacial anomalies.
Finding individuals with similar facial features, though, currently relies on doctors comparing photographs of undiagnosed children at medical meetings or recording written descriptions within databases linked to matchmaker exchange.
The Face Diagnosis project, which is supported by a three-year Clinical Research Fellowship from Hunter New England Health, aims to use advanced computer vision technology to match the facial features of unrelated individuals with the same syndromic form of intellectual disability.
This computer vision technology will allow rapid face matching, with every new image being matched against all images within the database. Comparing the DNA variants of two individuals with similar features can lead to the discovery of new intellectual disability genes.
“In developed countries, intellectual disability is mostly genetic. It may be due to gene changes passing down from one or both parents or a genetic change that has occurred for the first time in a child unexpectedly and by chance,” Dr Dudding-Byth explains.
“Despite rapid and simultaneous genetic testing of all known intellectual disability genes, 70 per cent of children remain undiagnosed.
“When testing of the known genes is negative, the interpretation of the 3.3 billion letters of DNA code is literally like searching for a needle in a haystack.
“Comparing the DNA code from two or a cluster of individuals who look the same can lead to the discovery of new intellectual disability genes. By using computer vision to match the faces of children with undiagnosed intellectual disability, the Face Diagnosis project is locating the pieces of the puzzle needed to crack the genetic code.”
Early diagnosis can inform prognosis and management, reduce the need for expensive and invasive investigations and restore reproductive confidence among parents.
Charleigh’s short life has been a revolving door of specialist appointments. She was born with microcephaly but doctors told her parents that her smaller-than-normal head “would probably grow as she did”. It didn’t.
“Charleigh was nowhere near as active as her sister was in the womb but all of her scans were normal, with no irregularities. She stopped growing in-utero at 37 weeks but they could not find any cause,” Ainsley Hayes tells Weekender.
“She was delayed in her milestones from the very beginning.”
Charleigh was referred to a paediatric neurologist in November 2011 where she presented with severe global developmental delay, microcephaly, dysmorphism and general hypotonia. In March 2012 it was suggested she might have atonic cerebral palsy. She has since been assessed for eosinophilic oesophagitis and hypothyroidism, and had bilateral hip surgeries two years ago.
A paediatric neurologist observed her low muscle tone and suggested cerebral palsy. She saw another doctor for gastroenterology issues, another for thyroid issues involving sleep patterns, a hearing specialist and two vision specialists.
She has suffered some prolonged seizures, which are now controlled by epilepsy medication, and her excessive saliva production is being treated by medicated patches. She is still in nappies and requires constant care and supervision. She is unable to regulate her body temperature, becomes lethargic easily, is susceptible to illness and requires a percutaneous endoscopic gastrostomy tube overnight.
Charleigh attends Hunter River Community School at Metford and is now in her second year of formal school. Prior to that she attended preschool at Medowie Children’s Centre, where her mother still works full-time as a childcare educator.
Garry, a chef, also works full-time. Sarah attends a separate school nearby.
“We like to call Charleigh our little puzzle box. She enjoys popping out clues which are followed and tested by everyone until we come to a dead end and she pops out another clue for everyone to scramble after,” Hayes says.
“I never allow myself to become too hopeful.”
When Charleigh had hip surgery Ainsley was forced to take 15 weeks off work and received no financial aid.
“I considered staying at home and being a full-time carer however even on one wage we were ineligible for assistance due to the salary cap being ridiculously low.
“It is frustrating taking time off work to see specialists and getting very little back in terms of definitive answers. It does become disheartening and it’s difficult to remain positive at times.”
Families and carers of children with a rare disease often experience significant psychological distress due to delayed diagnosis and social isolation. Charleigh’s condition, through no fault of her own, has taken its toll on her family in many ways. The physical, emotional and mental toll is as draining as it is expensive.
“We have never had a family holiday like Sarah’s friends have experienced and she is beginning to ask why,” Hayes explains.
“Sarah is very understanding about Charleigh’s needs yet these differences are becoming more of a consideration in Sarah’s own developing identity. She has had to forgo extra-curricular activities due to time and cost and lack of suitable care for Charleigh.
“Sarah rarely has time with both parents on her own and she is seeking this more and more.
“Things like catching a ball, playing with dolls and playing at the park together. None of this is happening at the moment and seems a long way into the future. This makes us all feel like we are on a timeline as Sarah continues to develop well beyond Charleigh.
“We are always conscious that we have a short window of opportunity for the girls to be girls together.”
Hayes says the number of people “who truly understand” is limited, which tends to further isolate them from friends and family.
“We often have to cancel events or visits at the last minute when we would have loved to attend. This has put a strain on friendships and family bonds,” she explains.
“Charleigh can change easily to being unwell and her complex medical needs means there are only certain people who we feel confident leaving her with for prolonged periods.
“We need to carry certain medications whenever we are away from home which have needed medical training to administer. This has prevented us from pursuing overseas travel, flights and outings further than a couple of hours away from home, her familiar medical team and medical equipment.
“One of the biggest weights to bear is the feeling of lost opportunities. Garry, especially, battles with this daily. He remembers the amount of time spent travelling as a young child with his family and has treasured memories from these trips. Even before the girls were born it was always Garry’s wish to show them the world.”
Then there are the practical difficulties.
“Many of the ongoing issues and costs associated with a new baby that would normally no longer be a factor by 18 months of age, continues for us at six years,” Hayes says.
“House cleanliness and hygiene are a daily concern as even though Charleigh is beginning to walk with assistance, she still crawls – and quickly.
“Her incontinence requires change facilities and she is now too big to fit on many nappy change tables provided in parents’ rooms.”
Dr Dudding-Byth says searching for a genetic diagnosis for intellectual disability is all about hope.
“It is hope that motivates parents of children with intellectual disability to continue searching for a diagnosis,” she says.
“Hope for an answer; hope for a treatment; hope that they are not to blame; hope that they are not alone; hope that they can have another child; hope that their grief will lessen; hope that they can make a difference.”
She is passionate about raising public and political awareness of rare diseases. People with these conditions struggle to have their voice heard above the more common life-threatening diseases in the community.
“At the moment there is funding for childhood diabetes and asthma and cancer but there is no place for rare diseases, which don’t fit into any category because each rare disease is individually rare,” Dr Dudding-Byth says.
“The paradox is that although each condition is individually rare, it is not uncommon to have or know an individual with a rare disease.
“When we go to the doctor with a set of symptoms, we expect that our doctor will make a diagnosis which will guide our management and treatment, however, for most people with a rare disease, to actually have a diagnosis is a major achievement.”
After 20 years in the business she is familiar with the “medical merry-go-round” that a delayed or incorrect diagnosis can cause parents. For that reason she is the co-founder of Rare Voices Australia, which brings individuals with different rare diseases together to provide a strong common voice.
Charleigh remains a work in progress for Dr Dudding-Byth, who first met her in 2011.
“At my last visit with the doctor she asked me if I wanted to keep looking or just to leave it as one of those things that will remain unexplained,” Hayes says.
“I decided that I owed Sarah answers – when they become available – for when she decided to have a family of her own.
“Sarah and Charleigh will need and deserve as much information as they can and so we are still searching but it is no longer pressing. If it comes, it comes. We’ve done our best and we’ll try again when the technology advances and costs reduce.
“Dr Dudding-Byth has provided another avenue of research into syndromes and diseases and we are very grateful for her expertise. Without her insight and expertise, we would be flying blind.”
She has some advice for other parents of children with a rare or undiagnosed disease.
“You need to try to find a balance. This has been tricky but we are always striving for a better balance for the family. We strive to put our family first no matter what,” she says.
“Fortunately, we have both found employers who are aware of our family dynamic and are accommodating. We are slowly trying to find time for ourselves as individuals as well as a couple.”
And knowledge is indeed power.
“Trust in your ability to cope. It may seem overwhelming but it is amazing the strength you find within yourself. If you get a diagnosis, remember it is just a name, a name to help your child get the funding they deserve, or to help them reach their full potential,” Hayes says.
“Your child is not that diagnosis. It is a part of them just like their hair colour. A diagnosis can be a validating moment of clarity but you know your child best and like anything else they can’t be pigeon-holed.
“Remember to look for the positives. Yes, mourn the loss of the child you might have had but open your eyes to the delights of the child in front of you. They don’t need the burden of your insecurities.
“Your knowledge can make it easier to move ahead as a team.
“For your own sanity, gather your close-knit circle of friends, family or loved ones and reach out, don’t try to go it alone – at some stage you will need that shoulder to cry on. Try not to feel guilty about seeking help, it is the strongest and bravest thing you can do for you, your child and your family.
“Also, remember you were a couple first and try to hold onto that. You are both going through this together and need to be able to talk to one another. If you are not conscious and careful, this journey can drive a wedge through a loving relationship.
“There are so many wonderful organisations and agencies out there but parents don’t know what is available. If you don’t keep your ears open, opportunities will never present.”