Rare diseases such as Tourette’s syndrome and cystic fibrosis can be, among all of the other challenges that come with their diagnosis, extremely isolating.

A recent article on Psychology Today explains the loneliness that can accompany a rare diagnosis as a co-morbidity in and of itself. Rare patients are all familiar with the many other burdens that can present themselves such as-

• Delay in diagnosis
• Difficulty finding the proper specialist
• Difficulty determining the best treatment regime
• Adjusting to a new care routine (self-care, medications, therapies)
• Adjusting to new physical/emotional challenges that accompany diagnosis

The problem is, without interaction with other rare disease patients, it’s so easy to feel alone in your struggles. In reality, even across disease states, many patients experience similar challenges.

Social Isolation

Rare patients often experience chronic symptoms, time-consuming doctors visits, and impaired physical ability to participate in normal activities. This can pose additional mental health challenges from feelings of social isolation.

Social Isolation can be an especially difficult burden for children and teens who are already going through a period of intense transition. In addition to learning how to make friends, adjusting to puberty, experiencing hormone shifts, and handling school, they’re also dealing with a unique diagnosis that no one seems to understand or be able to relate to.

What We Can Do

More people are starting to understand this issue as rare disease awareness spreads. Thankfully, advocacy groups, pharmaceutical companies, and medical professionals are beginning to implement new programs to combat it. Through educational outreach, self-care support models, online resources, sponsored events/activities, and in-person support groups, new resources are becoming available for patients which should help build community. With increased opportunities for connection between patient groups and caregivers, we should be able to help reduce feelings of isolation and improve quality of life for rare families.

Hemophilia: The Musical

BioMarin and Believe Unlimited collaborated in November of 2018 to create an event which would bring together patients in the Hemophilia community. They created a musical featuring 25 high school aged patients who were all diagnosed with a blood disorder. These kids came from 19 different states, and together, using the patients’ own words, the organizations put together a script for a musical. They debuted the production at the New World Stages complex in New York.

A survey following the event indicated that all of the participants and their caregivers felt improved motivation for managing the condition and improved confidence. Additionally, 92% of the patients reported feeling more connected, less stressed, and less isolated having participated in the experience.

Participating in this event was The UnLonely Project whose primary aim is to help reduce the burdens linked to loneliness that patients experience throughout their health journey.

Ultimately, we know that united efforts are the most effective for improving care in this area. We need to work together to improve the rare patient experience. Doing so could significantly change the lives of those living with rare diseases.