Aim. A rare disease (in the European Union) is defined as a disease occurring no more often than in 5:10,000 people. In most cases, it affects children, which irreversibly affects the functioning of the entire family. The aim of this article is to show the functioning of a child with a very rare genetic syndrome – Tatton-Brown-Rahman Syndrome. Methods and materials. Through a phenomenological description of the conducted studies on an individual case, the author presents the medical, therapeutic and pedagogical procedures undertaken, as well as the parents’ efforts aimed at the child’s well-being and comprehensive development. Results and conclusion. The research results obtained may contribute to increasing awareness of the occurrence of new rare diseases, and encourage the search for not only medical but also therapeutic solutions that support the development of the child and its parents. Taking into account the development of genetic research and the increase in awareness of rare diseases, the search for medical and therapeutic solutions is becoming an indispensable element. That is why it is so important to expand knowledge about occurring genetic diseases among therapists and educators in order to consciously conduct therapeutic tasks and support parents in making choices tailored to the needs and capabilities of their children.