Christelle Randall's 18-month-old daughter Elsie has a mutation in the RARB (retinoic acid receptor beta) gene, a condition so rare that fewer than 100 cases are known worldwide. Born in March 2025, Elsie spent most of her first eight months in hospitals due to apneas—episodes where she would stop breathing when upset, turning blue for two to three minutes. Now at home in Lewes, East Sussex, Randall is balancing her career as a film publicist with the fight for her daughter's life and access to advanced therapies.
A Rare Diagnosis and a Long Hospital Journey
Elsie's condition is de novo, meaning it is not hereditary, and its effects are progressive. The RARB gene, when working properly, helps control vitamin A signalling, vital for the development of the eyes, brain, lungs, and spinal cord. Elsie has microphthalmia (underdeveloped eyes), is legally blind, has low muscle tone, and had two holes in her heart, which have since closed. The diagnosis came in mid-June, after weeks of tests following her birth, when she was transferred to the Evelina children's hospital in London.
Randall, 50, describes the moment of diagnosis: "Life-limiting, potentially debilitating, variable," she was told. The condition's rarity was underscored: "It was so rare, I was told: a 1 in 163m chance. You are seven times more likely to win the lottery." The family spent months at the Evelina, where Elsie's apneas were managed with emergency 'bagging'—a mask placed on her face to force air into her lungs. By November, they were sent to a hospice to test if Elsie could self-resolve her apneas with just oxygen, which she did, allowing her to come home in February 2025.
The Fight for Care and Flexibility
At home, Elsie receives 70 hours of NHS-funded care per week from an integrated care board (ICB), plus six hours funded through the social care system on weekends. However, Randall faces restrictions: she cannot leave Elsie with a care worker unless accompanied by someone from an approved 'parental responsibility' list. "The only rationale I've been given is: 'We don't provide free childcare,'" she says. This has forced her to find a childminder, Zoe, who had to be added to the list, and to fight for nursery placement that requires a trained care worker present.
Kate Ogden, from Brighton, who set up the support group Start Small Sussex, highlights similar inconsistencies: "When his care is provided through direct payments, his care worker is allowed to collect him from school and drive him home... However, if that same care is commissioned through the ICB, care workers can support him at home but not drive him there." Randall argues for a more streamlined system: "Could there not be a more streamlined and practical way of delivering packages? One set of funded hours, for instance, when the parent could make sensible decisions about leaving the house."
Hope Through Research and Therapy
Randall has become a trustee for Rare People, a research charity set up by Dr. Rob Galloway and his wife, Laura, after their daughter Frankie was born with DeSanto-Shinawi syndrome, another ultra-rare condition. The charity aims to accelerate research into advanced therapies like ASO (antisense oligonucleotide) treatment, which could halt or reverse disease progression. "A personalised ASO treatment, years in the making, is about to be given to one child with Elsie's condition in Austria," Randall notes, adding that Elsie would be a perfect candidate if she were American.
Despite the challenges, Randall sees progress: "This week she took proper gulps off her spoon, which gave me hope she'll go back to oral feeding after a year of being fed through a tube in her stomach. She has started holding one of her toys with real purpose, and she really hoists herself up, which we were told she might not do." She recently had Elsie's advance care plan (ACP) removed, meaning Elsie would now be resuscitated if she stopped breathing. Randall is recording a podcast for Rare People to support other parents, and she remains hopeful: "I am so grateful to be living life again, really soaking in the small joys: swimming, a morning coffee and nature."
