Bridging the gap between the medical community and families affected by rare disease

In 2022, Jennifer Sills, our founder and president, participated in the Global Genes RARE Compassion Project--the first international educational program to pair medical students with rare-disease patients to enhance exposure to and comfort with rare diseases.  She was paired with Maahin Manzoor Khan, a medical student at the Shifa College of Medicine in Islamabad, Pakistan.  They meet virtually for over 3 months. 

In their discussions, Jennifer shared her family’s long journey to diagnosis, which was preceded by many misdiagnoses.  She learned that care specific to rare diseases in Pakistan is limited:  the symptoms of the rare disease may be treated, but many may not know that they are suffering from a rare disease without access to genetic testing. He was surprised to learn the parents’ input is often ignored when considering diagnosis, care, and treatment. 

After the program ended, Maahin and Jennifer stayed in touch. Inspired by this project, they wanted to explore ways to continue to bridge the gap between the medical community and families affected by rare disease.  They created the OCNDS Compassion Initiative at the CSNK2A1 Foundation to continue their work. Each member of the Initiative serves as an ambassador and an educator to bridge the gap between the medical community and OCNDS families and to shed light not only on the syndrome but also on the struggles and difficulties OCNDS families have with access to diagnosis, care, and treatment. 

More specifically, this Initiative strives to change the landscape of how rare-disease families are considered throughout care and to raise awareness about rare disease.  Collectively, rare diseases aren't as rare as we think.  Over 300 million people worldwide are living with a rare disease.  Jennifer and Maahin want medical providers to feel more comfortable with patients suffering from a rare disease. 

Jennifer also wants to ensure that patients and their families are equal, valued members of the team.  Doctors often tell patients, “do not mistake your google search for my medical degree.”  And likewise, you will hear patients and their families say to doctors, “don’t mistake your review of one publication describing the condition with our 24/7 observation of how this disease presents in our child or loved one.”  No rare-disease family expects their doctor to know everything about over 7000 rare diseases, some of which are n of 1.  Families do expect that their observations and their firsthand experience will be taken into account in diagnosis, treatment, care, and future research. 

Jennifer and Maahin have a big task ahead.  “Unlike common chronic diseases, however, medical expertise in rare disease is uncommon, and the care offered is limited. While common diseases receive ample focus in undergraduate medical education, there is less focus on rare disorders. The need for education focused on the recognition, understanding, and management of rare patients, particularly during medical school, was highlighted by the Association of American Medical Colleges (AAMC) in 2004.” Rare Disease Education Outside of the Classroom and Clinic: Evaluation of the RARE Compassion Program for Undergraduate Medical Students.