Children living with rare diseases: Building “concentric circle” community, addressing inequity in care

11:25 am - 12:15 pm Session

Children living with rare diseases have a unique experience when engaging with the healthcare system and have historically been underrepresented in medicine. While there are over 7,000 rare diseases with great heterogeneity in their etiology, individuals living with rare diseases face  barriers to receiving treatment and care that are strikingly similar. Patients with rare diseases often wait longer to receive a diagnosis, have fewer options for knowledgeable care providers, and have access to fewer treatments than individuals with more common diseases. Additionally, the diversity of etiologies has historically led to these patient populations being siloed and only relatively recently has the concept of a “rare disease community” begun to emerge.

The Chloe Barnes Rare Disease Advisory Council was established in 2019 with the goal of addressing the diverse rare disease patient populations’ needs collectively and deepening the rare disease community’s profile as a subset of the healthcare population.

Erica Barnes, Administrator, Chloe Barnes Advisory Council on Rare Diseases (she/her)
Bio: Erica began her career as a speech-language pathologist focusing on the stroke and brain injury population. She began her career in advocacy and healthcare policy when her second daughter, Chloe, was diagnosed with a rare disease. Erica and her husband Philip co-founded Chloe’s Fight Rare Disease Foundation in 2014 with the goal of raising awareness of the barriers in the healthcare system faced by individuals with rare diseases as well as funds for research. In 2019 she led a coalition of 42 stakeholders at the Legislature calling on the State of Minnesota to create a rare disease advisory council. She now administers the Council whose goal is to improve care for Minnesotans living with a rare disease. In addition to her role as Council Administrator, Erica chairs the NIH funded Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) Patient Advocacy Committee, and serves on the advisory committee for the CureMLD coalition. She is the recipient of numerous awards such as the National Organization for Rare Disorders (NORD) Rare Impact Award and Global Genes RARE Champion of Hope finalist.

Objectives for the session:

  • Give a brief overview of the evolution of the “rare disease community”.

  • Identify the top barriers to care that rare disease patients may face when engaging with the healthcare system.

  • Identify a number of initiatives that are happening to address the challenges of the rare disease community.