HAVING suffered a broken collar bone during birth and bad reflux, baby Archie Wooldridge's failure to thrive was, at first, not unexpected. But a mother's intuition often proves right and his mum Rosie always felt his problems went deeper.
"From a young age we knew something wasn't quite right; we just didn't know what," she says.
Archie was the Newtownards couple's second son and Rosie and her partner Chris recognised that he was very different to their eldest child Harvey (10). At birth, Archie weighed a healthy 9lb 4oz. But he struggled with feeding and was admitted back into hospital when he was just 10 days old due to extreme weight loss.
"Archie didn't smile for a long time and had very poor head control. It was nine months before he could sit 'by himself' and even then he needed cushions all around supporting him. He had no interest in anybody or anything, whereas Harvey was very engaged in what was going on around him," Rosie recalls.
Due to his fracture, Archie had been referred to a physiotherapist, who expressed concern over his inability to reach out for toys. When he choked while taking a sip of water during the appointment, a speech therapist was called in to assess his swallow. A multidisciplinary clinic followed, two days before his first birthday.
"They pointed out that he was very behind developmentally in motor skills and speech, as well as his swallow and reflux problems, and we realised we had a long journey ahead," Rosie says.
MRI scans and blood tests followed, the results coming back clear. Archie had ear surgery; medics suspected he had severe hearing loss. "But his dad and knew this wasn't the answer as music was the one thing that really soothed him," Rosie says. Tests confirmed he didn't require a hearing aid; none the less his medical "rollercoaster" continued.
Archie then required surgery on his stomach to tackle his reflux; thankfully the family had health insurance and used it to have the procedure done privately in London, avoiding a two-year waiting list.
There were, of course, golden moments amid the endless medical appointments. Rosie recalls Archie saying his first word: "On Mother's Day when he was three he said "Mama". That is the one word he can consistently say. He calls his daddy Mama too, but he is just as proud as punch that he can say it."
Archie took his first tentative steps at 22 months and was preparing to start special needs nursery at age three – he now attends Clifton Special Needs School in Bangor – when yet more problems arose.
"One night we heard this tapping on the wall. When I checked him I realised he was having a seizure," says Rosie; it was to be the first of many.
Rosie, herself a neonatal nurse, who has had to give up her career to care for Archie, says what she struggled with most was not knowing what was wrong with her son.
Then Archie's consultant at the Ulster Hospital mentioned the family might find an answer through genetic testing, which is how they came to meet Dr Shane McKee at the Belfast Genetics Centre. There they were asked to consider putting themselves forward to take part in a UK-wide study on Deciphering Developmental Disorders (DDD).
The study, coordinated by the Wellcome Trust Sanger Institute near Cambridge, aims to find the genetic causes of rare childhood conditions, by screening genes from more than 4,000 families with an affected child.
Of the 700 Northern Ireland families who have taken part, 100 have so far received results identifying the likely cause of their genetic disorder.
Archie's family were told just over a year ago that he had a neuro-developmental disorder known as GAND, associated with mutation in a gene linked to normal cognitive development called GATAD2B. Mutation in this gene can cause intellectual disability, low muscle tone, speech difficulties, sensory processing disorder, feeding difficulties and developmental delay.
With only 54 known cases worldwide, seven of them in the UK, it's a very rare condition.
"The diagnosis doesn't change anything, but it's a comfort to know other children have this condition and there is potential to go forward," says Rosie, who has benefited immensely from speaking with other families living with the condition.
A US-based charity, Helping Hands for GAND, provides online support and advice.
"It's great because if you have a concern over behaviour, feeding or communication, there are others parents who can relate to you and have dealt with it. Lots of other children are achieving a lot more than Archie at the moment, so it gives us hope for the future. A lot of the American families use communication apps from a young age. One seven-year-old boy can even write his own name and others have cracked toilet training."
Rosie and Chris were also relieved to discover the cause of Archie's condition was a mutation and it was not inherited from either parent.
"If it's an unknown condition, you worry about what their life expectancy will be. To know his condition isn't life-limiting gives us ease."
Archie is now also part of a clinical research trial of 30 children with the condition, led by Dr Tyler Pierson from Cedars-Sinai Medical Center in Los Angeles.
"He phones and emails us about areas of Archie's development and has received copies of all his medical records and scans. When I was pregnant with Archie I had sickness throughout and also a lot of fluid. It turns out all the children who had GAND had too much fluid during pregnancy. It's early days, but these early observations are interesting and you wonder if this information will help future families."
GENETICS TESTING IN NORTH KEY TO DIAGNOSES
THE Northern Ireland Regional Genetics Centre was set up in 1968 and is part of a network of 24 Genetics Centres across the UK. The centre, spearheaded by consultant in genetic medicine Dr Shane McKee, have been involved in the design and operation of the UK-wide Deciphering Developmental Disorders (DDD) Study since 2011.
The DDD Study involves scientists sequencing the genes of thousands of children from across the UK and Ireland with rare, undiagnosed conditions. It represents the largest comparable collection of patients with high level genetic testing anywhere in the world, and has identified several new genes involved in learning disabilities as well as 14 new childhood development disorders.
New technology and falling sequencing costs have transformed the way patients with rare diseases are diagnosed and treated.
"There has been an absolutely astronomical advance in genetic sequences over the past two decades. The first genome sequencing was released in 2000 – and that cost $2 billion. We can now do a genome for less that $1,000," Dr McKee says.
"Initially the scope of the DDD project was to do very limited genetic sequencing but as the research went on, the prices came down and we were able to do so much more."
Finding a diagnosis can be a huge relief for parents, enabling them to link up with other families with the same disorder and offering clues for further research into future treatment.
"The DDD has been phenomenal here, and we are embarking on further enhancements into genetic testing," adds Dr McKee, who says 'rare' diseases are actually quite common.
There are between 5,000 and 8,000 rare diseases, the cause just over 3,000 of which are known. Each one affects less than 0.1 per cent of the UK’s population, but research shows that over all, one in 17 people will suffer from a rare disease at some point in their lives.
