A mother in Sutton-on-the-Hill, Derbyshire, has been left devastated after finding out her one-year-old daughter, Etta, has Rett syndrome, a rare genetic condition affecting brain development. Leigh Grant, 34, and her fiance Elliot Oxley, 29, noticed differences in Etta’s development compared to their older daughter, Florence. They sought medical care when Etta began experiencing seizures and vomiting, leading to a diagnosis of Rett syndrome by a neurologist in July this year.
Leigh and Elliot were shocked by the news that Etta will not be able to speak, may have difficulties walking and using her hands, and could require lifelong care. They are exploring gene therapy in the USA to address the faulty gene causing Etta’s condition. A GoFundMe page has been set up to support the family with the treatment costs. Despite the challenges, Leigh described Etta as “the happiest little girl.”
Etta’s symptoms initially appeared when she was around nine months old, showing delays in developmental milestones. Despite multiple hospital admissions, no cause was initially found for her symptoms. Genetic testing later revealed the mutation on the MECP2 gene, leading to the Rett syndrome diagnosis. The family is awaiting genetic specialist advice on Etta’s future and exploring physiotherapy to aid her development.
Leigh and Elliot are apprehensive about having more children due to the risk of the same condition. The possibility of gene therapy offers hope for managing Etta’s symptoms, although it involves substantial costs and further consultations with specialists. The community’s support through the GoFundMe campaign has been heartwarming for the family, who are navigating the challenges of Etta’s diagnosis and care needs, hoping for a brighter future for their daughter.