The day Olivia was born, twelve years ago, this family’s life took a 360-degree turn, a turn as surprising as it was difficult to digest. Parents who, being first-timers, found themselves with a genetic disease deposited in the innocence of a girl.
“I knew at that very moment – confesses Sonia, her mother – that our lives were going to be filled with risks, frustrations, fears, due to the insecurity that going through something like that means for anyone.” They were still at the gates of a unknown diseaseultra rare and complex that forced them to start their life path and their own from scratch.
We are talking about a rare disease among the rare ones, a mutation in the KAT6B genewhich gives the girl a motor, sensory and intellectual disability of 75 percent. It is so rare that it is estimated that there are only one hundred people affected worldwide.
The alteration represented by the KAT6B gene, originating in embryonic development, was silent to doctors until her birth, becoming visible when Sonia gave birth. “My daughter was unable to gain weight and, in the following days, due to the hypotonia she had at the orofacial level, various swallowing problems and an incompetent cardia developed, which caused regurgitation and gastric ulcers.”
The first year of life was crazy, this woman admits. «A blind path, full of thorns, leaving us time in hospitals and with barely any peace of mind at home. Many hours of doctors, consultations, tests, without finding an accurate diagnosis of all their problems. Over the years, the picture has been completed with different complications: hypothyroidism, febrile seizures, gastric ulcers, fusion defect of C1 and C2 in the cervical spine, abnormal brain bioelectric activity, teething problems, photophobia, bilateral amblyopathy, very bad. ocular mobility, convergence insufficiency and problems in eye-hand coordination, rectal prolapse, ADHDand an alteration in his language, memory and comprehension capacity that greatly complicates his daily life at school.
But life, this mother continues, “has wanted my daughter to continue being a fighter, always giving a lesson of joy and hope.” The same one that they now offer from an entity in the United States called KAT6 Foundationwilling to financially support part of the research carried out since 2023 by José Antonio Sánchez Alcázar, professor of the Department of Physiology, Anatomy and Cellular Biology of the Pablo de Olavide UPO University and director of the research team that has sought to understand the mechanisms that cause the disease and look for potential pharmacological treatments.
Their findings provide these families with a ray of hope: Sánchez Alcaraz and his team have managed to demonstrate with their work that there are two active ingredients (pantothenic acid and L-carnitine) that manage to somewhat correct the alteration in the fibroblasts of the patients. Now They need 25,000 euros of financing to support North Americans so that they evaluate the therapeutic effectiveness of different treatments on neurons. “Part of the cost is provided by the Americans, the rest, we have to get it whatever to be able to improve Olivia’s life and that of the rest of the children who share her condition,” says Sonia.
The important discovery of this UPO scientist is framed under the umbrella of an initiative that started from the Andalusian Center for Developmental Biology (CABD) and the Higher Council of Scientific Research CSIC, after deciding to launch research on patients with the mutation in the KAT6B gene. They were looking for children who wanted to participate in the study and found Olivia’s mother. «The call seemed like a miracle to me»this woman acknowledges.
They found Sonia through the Carlos III Rare Disease Research Institute (ISCIII)where she had enrolled her daughter in the patient registry in the hope of being able to participate in some future research project on the disease. Her wish, this woman explains, like that of any family in this situation, was to meet other families affected by this syndrome and, thanks to the Federation of Rare Diseases (FEDER), she was able to meet three other cases of KAT6B in our country. Together with them, he formed the Association called KAT6B Spain.
«Our objective – he concludes – is to provide visibility, support, care to those affected and obtain financial resources for financing, research and treatments. Ultimately, our mission is to improve the quality of life of children affected by KAT6B syndrome and their families, promoting research and awareness about this condition.
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