Christelle Randall and 18-month-old Elsie. Photograph: Christian Sinibaldi/The Guardian View image in fullscreen Christelle Randall and 18-month-old Elsie. Photograph: Christian Sinibaldi/The Guardian Family The girl with a will to live: the love, hope and pain of raising Elsie – my one in 163 million daughter She was born with an ultra-rare genetic disorder. After my decades working in film PR, I now face the biggest campaign of all: the fight for her life
Prefer the Guardian on Google M y daughter Elsie has beautiful curls – blond like a little Botticelli cherub’s, hair that someone dark like me could only ever dream of. She laughs a lot, has a cheeky sense of humour and soaks in all the sounds around her – rustling leaves, the sea, a dog barking, children playing around a pool, me impersonating the alarm clock every morning, me impersonating monkeys. Indeed, me impersonating any animal.
Sound is important for Elsie because she has a visual impairment and, while we know she has some peripheral vision, is legally classed as blind. As a result, she uses her tongue to check her environment. When she’s excited it sticks out, tasting the air around her, licking anyone close, sensing space. And when she likes the taste of something she keeps her tongue out until you give her more. This is how we know she likes lollies.
She makes new sounds every day. If she suddenly realises she’s on her own, she’ll soon make her signature “Ah, ah!” sound until she’s got company again. But at 18 months she is behind in her development and we don’t yet know if she will be verbal, so for now we are learning to understand her in the ways she chooses to show us.
Elsie was born with a rare neurological condition – so rare that there are fewer than 100 known cases in the world. It is a mutation in the RARB (retinoic acid receptor beta) gene, which, when working properly, helps control vitamin A signalling, vital for the proper embryonic development of the eyes, brain, lungs and spinal cord. It is de novo (meaning it is not hereditary), and the effects are progressive.
She spent most of the first eight months of her life living in hospitals because of one terrifying symptom. She would stop breathing every time she got upset, turning blue, sometimes for two to three minutes at a time. At its worst, this was happening multiple times a day. For each episode she would need emergency “bagging”, with a mask placed on her face so air could be forced into her lungs from a hand-squeezed bag. These apneas, as doctors call them, still happen regularly but now they are shorter and far less frequent. They are usually resolved with oxygen from a cylinder – but without that she would be at constant risk of dying.
View image in fullscreen ‘Elsie’s condition was so rare, I was told: a 1 in 163m chance. You are seven times more likely to win the lottery.’ Photograph: Christian Sinibaldi/The Guardian Born in March 2025, Elsie has been home since February this year and she, my partner Dan and I are making up for lost time. She is loving and likes nothing more than snuggling up with her favourite people, taking her hands and running them down someone’s face, squealing with excitement when she finds a beard. When she’s really happy, she makes a deep sigh and sucks her dummy so hard that she looks like a little rabbit.
Elsie loves music, a positive legacy perhaps from hospital days when musicians would tour the wards every week. Brent Holmes’ Kooky Little Coconut is her favourite…