Eleanor’s story

Est. read time: 1-2 minutes.

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

Published in January 2023

Families’ stories and experiences are unique to them and we have been kindly granted permission to share this family’s story. If you have been affected by what you’ve read or have a question and would like to talk to someone, please contact your local children’s hospice service or Together for Short Lives, the UK charity that supports families caring for seriously ill children (tel: 0808 8088 100). 


Would you like us to write and share your own family story?

We give all those receiving support from EACH the opportunity to share their family story. All family members are welcome to get involved if they’d like to and we will never share your story until you are completely happy with it. If you have any questions or are interested in finding out more, please contact Matt Plummer, EACH Media and PR Manager at matt.plummer@each.org.uk.

She’s the most special, beautiful, happy little girl and we’re blessed to have her.

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