The girl with a will to live: raising a daughter with a one-in-163-million genetic condition
A British mother describes raising her 18-month-old daughter Elsie, who has an extremely rare RARB gene mutation affecting her eyes, lungs, heart and brain development. The family shares both the hardship of the diagnosis and moments of joy.
At 18 months old, Elsie has been diagnosed with one of the rarest genetic conditions known, a mutation in the RARB gene, which controls vitamin A signalling essential for the development of the eyes, brain, lungs and spinal cord in the womb. Fewer than 100 cases have ever been recorded worldwide, and doctors told her mother the odds were roughly one in 163 million — seven times less likely than winning the lottery.
The mutation arose spontaneously rather than being inherited, and its effects are progressive. Elsie has a visual impairment and is legally classified as blind, though she retains some peripheral vision. She also has microphthalmia, underdeveloped lungs, two holes in her heart, and low muscle tone that may mean she never walks.
She spent most of her first eight months in hospital because she would stop breathing when upset, sometimes for two to three minutes at a time, requiring emergency manual ventilation. These apnoea episodes still occur but are now shorter and less frequent, usually managed with oxygen from a cylinder.
Elsie was born in March 2025 following a difficult caesarean delivery during which she was not breathing and had to be resuscitated. She has lived at home since February this year. Despite the challenges, she is described as a joyful child who loves music and water, uses her tongue to explore her surroundings, and develops new sounds daily to communicate with her family.
Her mother, a film publicist who conceived Elsie using a donor egg after several unsuccessful attempts, describes the effort to support her daughter as the biggest campaign of her career.
