According to the World Health Organization there are around 10,000 individuals currently living in Poland with genetic mutations of the retina that lead to complete eyesight loss. This is a rough estimate because Poland does not run an official register of its own. We have been running a text messaging system and so far over 500 individuals with those types of retina issues have registered. Due to the slow progression of the disease and lack of statistics and diagnosis, patients are left to their own devices. Our observations suggest that such lack of support negatively affects their mental health and overall well being. Recently, a new method of saving the eyesight of some of the patients has emerged. The first ever gene therapy has been designed and the treatment allows to reverse the consequences of the mutation. Unfortunately, it is still unavailable in Poland. Individuals with the illness are at risk of social exclusion resulting from a limited access to diagnostics and therapy that could prevent the further development of the disease.
We would like to address these problems by organizing nationwide workshops and trainings, during which the participants will develop their knowledge and skills pertaining to asserting their rights. We will collaborate on a report about individuals with rare, genetic retina conditions and recommendations for meeting their needs and postulates. These tools will serve as a basis for the participants to lobby and advocate for themselves and other patients. Additionally, we will create a guidebook for those with the condition that will help educate about the retina genetic mutations, and the patient’s path from a suspicion of the disease, a diagnosis, and ending with healing. The guidebook will include tips on how to – despite the illness – keep active in different spheres of one’s life. We will also produce three animated movies for the patients and their families about the rare retina genetic mutations.