Two-year-old Eleanor is one of just five in world with rare condition
- Credit: Laura Timm
The mother of a two-year-old child with a rare condition which is the only known diagnosis in the UK has shared her family's struggles.
Laura Timm, who lives near Wymondham, has told of how difficult life is managing her daughter Eleanor's condition after she was diagnosed with Osteo-Oto-Hepato-Enteric Syndrome (O2HE) in November 2019.
The ultra-rare condition is characterised by a variable combination of bone fragility, hearing loss, cholestasis and congenital diarrhea.
It was discovered in Eleanor after she was born with intestinal failure, which resulted in her needing intensive care as she could not tolerate milk feeds.
Eleanor became extremely ill days after her birth and was admitted to the high dependency unit at the Norfolk and Norwich University Hospital for numerous tests.
The tests provided no answers and she was later enrolled into the Next Generation of Children research project, which provides whole-genome sequencing (WGS) for rapid diagnosis of critically-ill children.
Within three weeks, it was discovered that she has O2HE.
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And at just 10 weeks old Eleanor was transferred to Addenbrooke's Hospital for specialist care.
Her condition is now being managed with total parental nutrition (TPN) - an intravenous nutritional solution, which sees nutrition being fed through a line into her chest that runs directly into her blood via a vein above her heart, bypassing Eleanor's intestines altogether.
Mrs Timm said: "From about nine months old, she started to suffer with the cholestasis and liver disease as well.
"Addenbrooke's tried numerous different drugs to help her but nothing has worked at all, so it really is the case of lifelong parental nutrition in terms of managing it.
"The only other option is having an intestinal transplant."
The ultra-rare condition is something that her mother said was only described in literature for the first time in 2018.
Five children have been identified with it worldwide. Eleanor is the only one in the UK.
Mrs Timm, who has a scientific background and works in genomics, said the diagnosis was "a bit of a shock", but it finally gave her and her husband Michael answers after they tried to understand what was wrong by researching similar clinical presentations every night.
The mother-of-two said: "I could then stop researching, and focus on being mum."
Eleanor's condition is managed by having her TPN switched on 17 hours every day. A highly sterile environment also has to be maintained for the two-year-old to avoid bacteria getting into her line.
Mrs Timm added: "If any bacteria got into that line it would quickly spread in the body and she could become septic."
She also shared the impact the condition has on the rest of the family, with Mrs Timm describing how she feels like "a nurse as well as a mother".
She said: "We can't go out first thing in the morning and come back at bedtime or anything like that.
"We're very limited with what we can do.
"Every time she gets a temperature we have to take her to hospital because it could be a line infection, and it's for 48 hours at least which is quite hard, especially as we have a four-year-old as well.
"So, we frequently have to split up as a family, missing events because we're in hospital with Eleanor."
The mother-of-two stressed the importance of WGS and families getting access to services to help diagnose and treat their children.
She said: "That for me is the big thing in terms of awareness, is making sure any children that are critically ill have access to these testing services and get the answers they need quickly to allow suitable management."
Great Yarmouth's Town Hall, Gorleston Pavilion, St George's Theatre, the Tolhouse, the Minster Church of St Nicholas, the Arc Cinema at the Royalty, and the North West Tower were lit up for Rare Disease Day on February 28.
And Mrs Timm and Eleanor met with mayor of Great Yarmouth, Adrian Thompson, ahead of the light up. The family have since expressed their gratitude for the support.
Mrs Timm said: "Life is hard when you're living with a rare disease and a sick child, so it's quite heartwarming that someone is prepared to do that for you and recognise that day."