Eleanor Timm is a brave three-year-old with an ultra-rare genetic condition.
The Norfolk youngster is the only child in the UK with Osteo-oto-hepato-enteric Syndrome. She is just the fifth known child in the world to have it and she also has another rare genetic condition, Mitochondrial Disease.
Just days after birth, Eleanor became very sick and was admitted to the Neonatal Intensive Care Unit (NICU) at the Norfolk and Norwich University Hospital.
“She needed lifesaving treatment but weeks of tests proved inconclusive, as to why she was so ill,” said mum Laura, who is married to Mike and has another daughter, five-year-old sister Evie. The family use the services at EACH’s Norfolk hospice, The Nook, in Framingham Earl.
“Eleanor was getting weaker each day, and, after enrolment into the Next Generation of Children research project, which sequenced her genome, she was diagnosed with Osteo-oto-hepato-enteric Syndrome (O2HE Syndrome).
“She was born with intestinal failure, because of the syndrome, and spent a long six months in hospital. She was then discharged home on Parenteral Nutrition (PN) – a type of feed that bypasses the digestive system by going straight into the blood.
“PN comes with the daily risk of sepsis, and, as parents, we’ve been trained to administer it in a sterile manner. Eleanor’s PN infusions run for 17 hours a day, so our lives revolve around it.”
Eleanor’s liver started to fail but she had a multi visceral organ transplant in October 2022.
“She hasn’t had an easy three years, but she’s fought, and continues to fight, so hard to be here,” added Laura.
“She’s the most special, beautiful, happy little girl and we’re blessed to have her.”
Rocking horse image: Pennycress Photography