Julek has damage in the PLA2G6 gene, linked to neuroaxonal dystrophy, a one-in-a-million disease.
The episode opens with Julek's mother describing his love for balls and the difficulties at home due to his sisters. She explains their rigorous daily routine, including twice-daily training and therapy sessions, highlighting Julek's progress in walking with help from his kindergarten teachers. The parents discuss additional activities like therapeutic pool classes and challenges such as going outside in winter with Julek's plastic orthoses. They visit sports shops for walks to expose him to different surfaces. The conversation shifts to the family's energy and self-sufficiency, noting the strain of caring for Julek while also attending to their two older daughters, Laura and Gaia. Julek's father joins, and they talk about simple games Julek enjoys, like playing with cars and making sounds. They reflect on how they support his physical and cognitive development through play. The parents then reveal the first symptoms of Julek's condition at 18 months, leading to visits to orthopedists and neurologists. At age two, genetic testing identified a damage in the PLA2G6 gene, correlating with neuroaxonal dystrophy, an extremely rare disease occurring in about one child per million births. They explain the autosomal recessive inheritance pattern and how their older daughters were unaffected. The diagnosis process was lengthy, and by the time they received results, Julek was ahead of typical cases for his age. The parents describe the devastating impact of learning about Julek's prognosis in 2024, with a life expectancy of 5-10 years and the disease affecting the entire family. They struggled to tell their daughters, aged 8 and 11 at the time, and relied on a psychologist for support. Initially, they couldn't publicly discuss the diagnosis due to emotional pain, especially when comparing Julek to more severe cases online. Over time, Julek's development plateaued and regressed, aligning with the disease's description. The episode concludes with hope: gene therapy has been developed over 20 years, and an application is submitted to the FDA for clinical trials. The InetQ Foundation, a non-profit, needs funding to produce the drug, with costs estimated at 1.5 million zlotys for 8-10 free trial spots. The parents emphasize that without this therapy, only palliative care is available for Julek.
