The story of Duska
Bor’s diagnosis is so rare in the world that the syndrome has no other name than chromosome 8p disorder, most often it is a deletion/duplication/inversion on chromosome 8p. Our Bor was diagnosed with 8p23.1 deletion. In his case, this manifests as an overall developmental delay with moderate to severe intellectual disability, diagnosed autism spectrum disorder, epilepsy, poor coordination and balance, impaired fine motor skills, behavioral problems, sensory hypersensitivity and much more, which will require his lifelong care and adult support and guidance. Some children born with this genetic defect may also have a congenital heart defect, which occurs when there is no GATA4 gene in the genetic material. There are around 350 known cases of the genetic defect INV/DEL/DUP of chromosome 8p in the world, and in Slovenia, together with our Bor, there are three known cases.
Bor or Borči, as we all affectionately call him, is our source of love. Because of his purity, friendliness and sincerity, his hug, kiss or look is something that immediately warms our heart and brings a smile. Bor will soon be 12 years old and attends a school for children with special needs. He is a very lively boy who loves his older brother very much, because he is one of the few, if not the only, child who knows and understands how to play with him. As a mother, the best thing for me is to watch them sing together and have fun in their own way. Bor has always loved cows and everything related to the farm, so he is especially happy on Sundays when he visits his uncle’s farm. We love him immensely. He is a big fan of cartoons, books and fairy tales. He already knows many of them by heart. Mainly because we have been following the same for years and years. Visiting the library is also one of his favorite activities and the librarians already know him very well. He also likes to visit his grandmother and grandfather very much. Bor does not like severe cold or strong wind. He doesn’t like crowds and noise. In a new environment, he prefers to move around in a stroller. But when the weather is warm, he enjoys riding with bike across town, taking short walks with our dog and splashing in the water.
Since there are so few of us in the world, we too have begun to connect with parents and families who share the same or similar fate. We are spread all over the world. We also connect under the auspices of the Project 8p foundation from the USA, which was founded few years ago by the mother of a girl who also has a genetic defect on the 8p chromosome. The mission of the Project 8p Foundation is to empower a unified community for meaningful lives of 8p heroes today, while accelerating healing for tomorrow. You can read more about the foundation here: www.project8p.org.
On one occasion, as the mother of a child with a rare disease, I stated:
“Being a parent of a child with such a rare disease is sometimes a very lonely journey. Renunciations, adaptations, daily challenges and changes are our constant… Connecting with others and spreading awareness about rare diseases lets us know that we are not alone.”