The only certainty that 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 6,000 disabled British children born every year who have no overall diagnosis for their condition.
The three-year-old, referred to as a SWAN child (Syndrome Without A Name), has amassed a long and detailed list of health problems during her short life but has no prognosis and no proper diagnosis.
Instead, the Bramley 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 – you don’t get the first hold.
“I was in a big maternity unit with crying babies and I didn’t know that mine was even alive.”
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. No matter what the doctors did, the tot could not fully digest her food.
Within two weeks she was diagnosed with Hirchsprung’s disease, a disease that affects one in 5,000 children, which 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 stop functioning.
“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 they were looking at the X-ray and her bowel was 10-times the size it should be,” Vanessa 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, Vanessa is consigned to the fact that her daughter will face a lifetime in and out of hospital.
“It’s difficult for people to understand,” she said. “She’s quite an anomaly because she’s got so much going on. You tend to find support for each individual problem, it’s hard to find people that understand children with multiple problems.
“You don’t really make plans for the future, we don’t know how long she will be out of hospital.
“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 disease charity Champs Appeal and SWAN UK, a family support forum led by the Genetic Alliance UK charity.
The Gilbert’s support network is also rallying round, with friend Kenny Dove taking part in six long distance runs in aid of Champs Appeal – www.justgiving.com/kenny-dove – inspired by a little girl with a defiant attitude.
“She never stops smiling,” Vanessa added. “She’s walking around with a major organ hanging out of her body but she’s so happy and just takes everything in her stride. She’s an inspiration.”
For more on Eden-Rose’s journey visit www.facebook.com/EdenRoseBornFighting.
SUPPORT OUT THERE FOR SWAN FAMILIES
The SWAN UK initiative offers support to around 1,500 families of disabled children who have undiagnosed genetic 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 for further information.