Rare diseases, while individually uncommon, collectively may impact up to 10% of the population. This makes rare disease a major global public health issue. Most rare diseases have a genetic etiology. Cutis laxa is one such rare connective tissue disorder; people with the condition often face a high burden of disease but face challenges in finding well-informed and knowledgeable healthcare providers. To better understand the experiences and challenges that people with cutis laxa have while navigating their healthcare systems, six qualitative interviews were conducted amongst English speaking adults who have been diagnosed with cutis laxa. Participants were recruited through the Cutis Laxa Internationale Facebook page; interviews were recorded and conducted through Skype Business. The interviews focused on questions about the process of diagnosis, medical management and care, availability of resources, and sources of support for these participants. The interviews were transcribed and coded for thematic analysis. This study identified several themes, most notably, lack of knowledge amongst providers, concern for provider engagement, anxiety about potential symptoms, desire for coordinated care, and rare disease in the healthcare system. There have been no other qualitative studies that focus on the experiences of people with cutis laxa. This study helps fill this empty niche, provide more information about the experiences and challenges of those that have cutis laxa, offer insight for healthcare providers of patients with cutis laxa and other rare diseases, and contextualize how the needs of the cutis laxa community fit into the greater need for public health interventions with the rare disease population
