We are very pleased to update on the story of three-year-old Eleanor, who was born with an ultra-rare genetic condition which meant her intestines didn’t work.
Last year we spoke to Eleanor's mum Laura about how whole genome sequencing led to a diagnosis for Eleanor of an ultra-rare intestinal disease known as Osteo-Oto-Hepatic-Enteric Syndrome.
The condition is so rare that, at the time of diagnosis in early 2020, Eleanor was the only child in the UK, and 5th in the world with this condition, though they all have different genetic variants. You can read more about Eleanor's condition and diagnosis here.
Due to intestinal failure caused by the faulty gene, from the time she was born Eleanor received all nutrition (total parenteral nutrition or TPN) and hydration through an intravenous tube.
She attended regular appointments with experts at the regional intestinal failure centre at Addenbrooke’s Hospital in Cambridge.
After two years of TPN, her liver started to fail, and she became desperately unwell. Whilst the TPN was keeping Eleanor alive, at the same time it was also contributing to her deteriorating health by causing her liver disease. Eleanor was put on the waiting list for a combined liver and bowel transplant.
We are delighted to share the news that, two weeks before her third birthday, Eleanor received her transplant and has been going from strength to strength ever since.
She is such a completely different child. The cheek she has and the faces she pulls. We are so grateful to our donor family, they have given the most precious gift. I have promised myself we will honour that decision and live life to the full.Eleanor's mum, Laura
To mark Organ Donation Week (opens in a new tab) (18 - 23 September 2023) Laura has a message of support and encouragement for any families faced with a potential organ donation decision:
"Have a discussion, because if organ donation were a consideration it can make such a huge difference. Something good can come out of something so terrible. This little girl would not be here if it wasn’t for that family".
Watch 'Eleanor's Story' with mum Laura, in aid of Organ Donation Week 2023
Useful links for patients, families and the public
- Information on Whole Genome Sequencing (WGS)
- Support for people and families affected by rare disease: Cambridge Rare Disease Network (opens in a new tab), Genetic Alliance UK (opens in a new tab), Rare Disease UK (opens in a new tab), SWAN UK (opens in a new tab), Beacon (opens in a new tab).
Useful links for healthcare staff: