Ring Chromosomes from Patients’ Perspective

Ring chromosomes (RCs) are normally reported in the scientific literature exclusively from the (cyto) genetic and/or clinical point of view. There is also a paucity of reports about RCs compared with other more recently established genetic diagnoses, such as copy number variants (deletions and duplications) and gene sequence variants. There are a number of possible reasons why there is a relative lack of published information, but the fact that more recent genetic testing technologies are not able to identify this chromosome structure is contributory. The limited number of reports in medical journals leaves families, clinicians and all those involved with the care of a child or adult with an RC with insufficient information. Here, thanks to the support of Unique ( https://rarechromo.org/ )—a rare chromosome and gene disorder support group based in the United Kingdom, but with members worldwide—families with children carrying RCs from different chromosomal origins share their experiences. Their testimonies provide insights into what it means to have a child who receives the diagnosis of an RC, how families are affected, how to search for support networks, the impact on daily life and how it can be difficult to find sympathetic and supporting professionals with knowledge of RCs in the healthcare system. Unique also provides “family friendly” guides to RCs, freely available on their website https://rarechromo.org/disorder-guides/ .