Elsie Randall was born in March 2025 with a rare neurological disorder caused by a mutation in the RARB gene, a condition affecting fewer than 100 known individuals worldwide. This de novo mutation, which impacts vitamin A signalling vital for embryonic development of the eyes, brain, lungs, and spinal cord, has resulted in Elsie being legally blind and experiencing progressive health issues.
Elsie’s early life was marked by a series of medical challenges. For the first eight months, she spent much of her time hospitalized due to frequent apneas—episodes where she stopped breathing for up to two or three minutes. During these events, emergency intervention was necessary, including manual ventilation with a bag-mask. While these episodes persist, they have become shorter and less frequent and are often managed with supplemental oxygen. Without this support, her survival would be at significant risk.
Her mother, Christelle Randall, a public relations consultant specialising in socially conscious independent films, described Elsie as a child who, despite her impairments, interacts with her surroundings through sound and touch. Elsie has some peripheral vision, but to navigate space, she often uses her tongue to explore and express preferences, such as keeping her tongue out to signal enjoyment of sweets. Though developmentally delayed at 18 months, Elsie exhibits a distinctive vocalisation to seek company and responds to music, a sensory interest partly stemming from early exposure to hospital musicians.
The journey to motherhood was prolonged and complex for Randall, who underwent multiple unsuccessful rounds of in vitro fertilisation (IVF), eventually conceiving using donor eggs at age 48. Despite a largely healthy pregnancy, Elsie was born via cesarean section after complications with her positioning. Immediately after birth, Elsie required resuscitation and was later diagnosed with microphthalmia, underdeveloped lungs, two heart defects, and muscle hypotonia—all issues undetected in prenatal scans. Genetic testing eventually confirmed the RARB mutation.
Elsie spent considerable time in neonatal and pediatric intensive care units, including a prolonged stay at Evelina Children’s Hospital in London, where she received specialised neurological care. The family was supported by hospital staff and charities during these periods, often staying away from home and facing numerous challenges related to health, emotional well-being, and financial pressures. Randall highlighted the difficulties of balancing caregiving with maintaining her own mental health and professional work while navigating complex and restrictive NHS care arrangements.
A significant milestone occurred when Elsie was transferred to a hospice to assess her ability to manage apneas with limited medical intervention. Contrary to initial expectations, Elsie began to self-resolve apneic events without the need for “bagging,” allowing a plan for discharge home to proceed. By February 2026, Elsie returned home, where she receives around 70 hours of NHS-funded care per week. Despite the extensive support, Randall described the system’s constraints—such as restrictions on leaving Elsie with care workers unless accompanied by approved individuals with parental responsibility—as burdensome and isolating.
Though Elsie’s condition remains life-limiting and unpredictable, her family continues to focus on her care and quality of life. Randall emphasises the determination and resilience both she and Elsie demonstrate amid ongoing medical and logistical challenges, balancing hope with the realities of a rare and complex diagnosis.