The only certainty the parents of Eden-Rose Gilbert have is that she will never get better.
Three years of constant visits to Leeds General Infirmary, new diagnoses and unending worry have raised dozens of questions for the toddler’s parents Vanessa and Jonathan, but have yielded few answers.
Eden-Rose is one of about 6,000 disabled British children born every year who have no full diagnosis for their condition.
The three-year-old, referred to as a SWAN child (Syndrome Without A Name), has amassed a long list of health problems during her short life but has no prognosis and no proper diagnosis.
Instead, the Leeds tot’s parents spend their days dealing with life-threatening seizures, issuing medication and trying to pre-empt her next health scare while not being able to access specific help for the undiagnosed root cause of her problems.
Perhaps Eden-Rose’s most prevalent condition is Hirschsprung’s disease – a rare disorder that causes a section of the bowel to become permanently narrowed, resulting in a blockage that means she can’t pass stools.
Mum Vanessa, a former hairdresser-turned-carer, first noticed all was not well with her daughter during pregnancy when she reported that her unborn baby was not moving for long periods at around 28weeks. She gave birth eight weeks later.
“We knew straight away everything wasn’t okay, she wasn’t breathing when she was born and had to be resuscitated,” the 25-year-old said. “The most heartbreaking thing is they are taken away and you don’t have the chance to hold them.”
Once resuscitated it soon emerged that Eden-Rose was rejecting her feed before she vomited green bile and a brown substance that was in fact faeces.
Within two weeks she was diagnosed with Hirchsprung’s disease, which affects one in 5,000 children, and that turned out to be the start of a trail of diagnoses.
The condition came to a head in August when Eden-Rose was put in a body cast from her rib cage to her knees for four months to deal with another condition that was causing her hips to dislocate. The cast left her even more constipated and doctors were forced to act as her digestive organs began to shut down.
“It was horrific, we thought she was going to die. She was vomiting, her bowel couldn’t descend. Her organs were being pushed up and her bowel was 10-times the size it should be,” Mrs Gilbert said.
Surgeons ended up giving Eden-Rose ostomy surgery, which means that the youngster now has the end of her large intestine moved to an opening in the abdomen, so she passes waste directly into an external stoma bag.
Reeling off a list of ailments including a chromosome imbalance, seizures that cause her to go into respiratory failure, two holes in her heart, bilateral squints, intermittent blood retention, mild hearing loss, hypermobility that causes dislocations, and hypertonia, Mrs Gilbert is consigned to the fact her defiant daughter will face a lifetime in and out of hospital. She said: “She will never get better, she will always be poorly and that can be quite difficult.”
The family has, however, received support from the likes of Hirschsprung’s charity Champs Appeal and Genetic Alliance UK’s SWAN UK support forum.
Mrs Gilbert said: “She’s so happy and just takes everything in her stride. She’s an inspiration.”
SUPPORT OUT THERE FOR FAMILIES
The SWAN UK initiative offers support to around 1,500 families of disabled children who have children with undiagnosed conditions.
The initiative launched in 2009 to help families to share experiences and become part of a community.
Helen Parr, a spokeswoman for SWAN UK, said: “If you have a diagnosis there is a plan of treatment and different departments for you to go to, without one it leaves a family powerless.”
Visit undiagnosed.org.uk or to follow Eden-Rose’s journey visit www.facebook.com/EdenRoseBornFighting.