Out of the list of seven classic defects and disorders that make up Vacterl Association, little Ruby Bunce has six of them.
The fact that she has managed to make it to two and a half years old is a testament to medical care, her mother’s fierce determination to do the best for her and her own fighting spirit.
She has spent a good deal of her short life in hospital and has had to undergo 19 operations so far, including major heart surgery.
Yet, despite all this, Ruby’s mum Jolene describes her as ‘the happiest child I’ve ever met – she’s always smiling’.
And it’s true: the day I go to meet her she is sitting in her chair, laughing and waving her hands around while she watches TV and looks at a Peppa Pig book.
Problems with her spine mean that she can’t yet walk but she can shuffle along on her bottom and scoot in a special chair. She is fed through a button feeding tube in her stomach but she is encouraged to keep a soother in her mouth so that she doesn’t lose the ability to swallow.
Jolene also has three sons, Jordan, 15, Joshua, nine and Joseph, six. Their births were relatively straightforward. When she suffered pain and bleeding during the early stages of her pregnancy with Ruby, she thought at first it might be because she was a girl. The reality turned out to be far more serious.
The one Vacterl Association condition Ruby doesn’t have is limb abnormalities: babies with the syndrome may be born with deformed or foreshortened arms and legs but not Ruby and so scans appeared to show nothing wrong with her.
Despite this, Jolene’s symptoms were getting worse and at just over 34 weeks she was admitted to hospital for an emergency caesarean section. Ruby was born on August 13, 2016, weighing 3lb 15oz.
Jolene recalls: ‘She went into the SCUBU and they couldn’t pass the NG (Nastogastric) tube and they had to call the consultant.
‘She was born in the afternoon and at midnight he came to see me and told me he thought she had trachea oesophageal fistula [a condition in which the oesophagus at the top is a blind pouch and the other end leading from the stomach is attached to the trachea]. She was born unable to swallow.
‘She got flown over the next day to Alder Hey and at not even 36 hours old she went for her first, major life saving surgery. The next day when I went to see her after theatre I found out that she had all these other things wrong with her.’
As well as the problems with her trachea and oesophagus, Ruby had four holes in her heart, pulmonary stenosis, a tethered spinal cord and a multicystic dysplastic right kidney.
During the first year of Ruby’s life the nightmare continued: she suffered a collapsed lung at six days old; at five weeks she had another operation to dilate her oesophagus, and a gastrostomy [feeding tube insertion] at 10 weeks old and so it went on, backwards and forwards to hospital, in Liverpool and in the Isle of Man, for emergencies and more procedures and operations.
At five months old she had an operation to replace her oesophagus with a piece of her colon. She is the only person in the island to have had this procedure. A week later, complications saw her back in theatre twice followed by four weeks on a ventilator.
‘She had 28 days out of her first eight and a half months at home,’ says Jolene.
At 11 months she went for open heart surgery. Jolene recalls: ‘We just got her home after that for her first birthday in August 2017. We managed to keep her at home for a little while then in February last year she started having problems with the tube in her stomach which resulted in 10 months of to-ing and fro-ing to get dressings changed and tubes changed. In August last year she had a surgical jejunostomy [the insertion of a feeding tube into her small intestine]. In October she had a new button put in.’
Since then, Ruby has been relatively well. Defying all the odds she is not only alive, she is thriving and happy: ‘When Ruby cries we know there’s something wrong,’ says Jolene.
For the future there is more surgery planned, in March, this time to release her tethered spinal cord. Her mental development has been held up by all the problems but she is just beginning to babble and say ‘mama’. ‘I think eventually it will come and she’ll start talking,’ says Jolene.
The big hope is that she can be persuaded to start eating normally: right now she is refusing to.
Jolene explains: ‘She’s got an oral aversion: she won’t let you put anything to her mouth. She doesn’t even like touching food. They think she might not eat till she’s five or six.’
Throughout it all Jolene has managed to juggle the care Ruby needs with giving her boys enough attention.
‘They’ve suffered through it all as well,’ she says.
Ruby goes to Rebecca House for respite care to give Jolene time with her sons and the boys also go to activities organised by Crossroads Young Carers. ‘Crossroads is great,’ she says.
Jolene has researched every aspect of Ruby’s condition: because it’s so rare both she and the medical team in the island have been on a necessary learning curve. She explains: ‘Even the hospital, because they haven’t had a Ruby born before, she’s unique to them so parts of it they’ve had to learn with Ruby as well.
‘And it’s hard on the Isle of Man where there is no one else with it. There’s no one to go and have a coffee with and talk to about it.’
Jolene adds: ‘With everything that’s wrong with her, Ruby fights her way through it. To be born the way she was and have so many different congenital abnormalities wrong with her and be where she is today is just amazing.
‘She amazes me every day with everything she does. She’s a little warrior.’
â?¢ Ruby has a Facebook page, Ruby’s journey with Vacterl Association.
VACTERL Association is a disorder that affects many body systems.
VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
People diagnosed with VACTERL Association typically have at least three of these characteristic features.
Source: IOM Today