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Elsie has a de novo RARB gene mutation, a progressive neurological disorder recorded in fewer than 100 people worldwide. Her mother describes the 18-month-old's development, repeated hospitalisations and the long journey to motherhood.
Elsie, born in March 2025, has a de novo mutation in the RARB gene, meaning it was not inherited from either parent. The progressive neurological disorder is so rare that fewer than 100 cases are known worldwide, and her mother was told the condition represented a one in 163 million chance.
That is seven times less likely than winning the lottery. The gene, whose full name is retinoic acid receptor beta, helps control vitamin A signalling. That process is vital to the embryonic development of the eyes, brain, lungs and spinal cord. Elsie has a visual impairment and is legally classed as blind, although doctors know she has some peripheral vision.
She spent most of the first eight months of her life in hospital because she would stop breathing whenever she became upset. Her skin would turn blue, and episodes sometimes lasted two or three minutes. At the worst point, they happened several times a day. Each episode required emergency bagging, with a mask placed over Elsie's face while air was forced into her lungs using a hand-squeezed bag.
The apneas, as doctors call them, still occur regularly, although they are now shorter and much less frequent. They can usually be brought under control with oxygen from a cylinder. Without access to oxygen, however, Elsie would remain at constant risk of dying. She has been home since February, and she, her mother and her mother's partner, Dan, are now trying to make up for the time lost in hospital.
At 18 months, Elsie is behind in her development, and her family does not yet know whether she will become verbal. They are learning to understand her through the ways she chooses to communicate, including the sounds she makes and the physical signals she gives them. Elsie has blond curls, which her mother compares with those of a little Botticelli cherub.
She laughs often, has a cheeky sense of humour and listens closely to rustling leaves, the sea, barking dogs, children playing around a pool and her mother impersonating alarm clocks, monkeys and other animals. Sound is particularly important to her. Because of her limited sight, she uses her tongue to explore her surroundings, tasting the air, licking people nearby and sensing the space around her.
When she likes the taste of something, she keeps her tongue out until she is given more, which is how her family knows she enjoys lollies. She makes new sounds every day. If she realises she has been left alone, she repeats her distinctive Ah, ah sound until somebody comes back to her. She is affectionate and loves to cuddle, taking people's hands and running them down their faces before squealing when she finds a beard.
When she is especially happy, Elsie gives a deep sigh and sucks her dummy so hard that she resembles a little rabbit. She loves music, perhaps because musicians visited the hospital wards every week during her early months. Her favourite song is Brent Holmes' Kooky Little Coconut, about little coconuts moving to an island to live freely with their unconventional family. She prefers French nursery songs to British ones, a choice that delights her French grandmother.
Elsie also shares her mother's love of water. This summer, she felt the ocean on her feet for the first time. Because her head control is weak, she had to be held upright, but her smile continues to brighten her mother's day whenever the family plays a recording of the waves made during the visit. Despite her limited mobility, Elsie somehow manoeuvres herself across the bed each morning until she occupies half of it.
Her mother is often amazed by this small achievement, although some days she is overwhelmed by thoughts of what Elsie may not be able to do in the future. Elsie's mother, now 50, has worked as a film publicist since leaving university. During her 30s, she built a career, bought a flat and travelled, while also enjoying yoga and surf retreats, festivals, cats and a mixture of relationships.
She always knew she wanted a family and believed freezing her eggs might give her more time. In her early 40s, she left London for Lewes in East Sussex, attracted by the countryside and proximity to the sea. During lockdown, she accepted voluntary redundancy and established her own public relations consultancy. The company promotes independent films, particularly documentaries and features with a strong social conscience.
Its work has included Mr Nobody vs Putin, as well as films connected with humanitarian issues such as the wars in Syria, Gaza and Ukraine, corporate corruption and racial prejudice. Her work has involved Oscar nominees and winners. Now, she says, she is working on the biggest campaign of all: the fight for her daughter's life. After the first lockdown ended, she was single again but more determined than ever to become a mother.
Doctors told her she was more likely to conceive using eggs frozen a decade earlier, so she began IVF with those eggs and donor sperm. After three unsuccessful attempts, followed by further attempts using the eggs her body was still producing, she realised she would not be able to have a genetically related child. The realisation was devastating. She felt her journey to motherhood had ended, even as her work and company were flourishing.
Her longing for a child did not go away. At the end of 2024, she decided to try once more, this time using donor eggs. Two friends had started families in this way, and seeing them together persuaded her. She had recently begun her relationship with Dan, who supported her, but because they had not known each other long, she initially continued with her original plan.
Six months later, she was pregnant. At 48, she moved through the pregnancy without difficulty, reaching the key milestones, including the 12-week and 20-week scans, with the same confidence that had marked much of her life. Looking back, she wonders whether she had been too complacent and whether she should have had to fight harder before facing the struggle for Elsie's life.
RARB Gene Mutation Ultra-Rare Genetic Disorder Paediatric Apneas IVF And Donor Eggs
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