Listening For Rare Disease Answers : Hearing Those Who Often Go Unheard

National Day of Listening is – November 29, 20024

In the United States, many people associate the day after Thanksgiving with Black Friday – a day dedicated to getting the best deals on your upcoming holiday shopping. But the day after Thanksgiving is also set aside as a National Day of Listening (started by StoryCorps in 2008), which encourages people to connect with friends and family, actively listen to each other’s stories, and record these stories for future generations. Attentive listening on National Day of Listening is especially relevant in the context of rare disease

Rare diseases can be notoriously difficult to diagnose – they affect a relatively smaller number of people than common diseases and many of the 10,000 rare conditions have symptoms that overlap with more common conditions which leads to misdiagnosis. It can take an average of five to seven years for a patient with a rare disease to receive an accurate diagnosis. There are many reasons that contribute to this diagnostic delay but listening can play an important role in reducing this time.
[Link to Rare Disease Facts]

The Role of Healthcare Professionals

Each individual rare disease affects a smaller number of patients than more common conditions. Because of this, during the course of their career, healthcare professionals may never see a patient with a rare condition and may often not have enough experience to recognize the disease quickly. This is why the ability to listen deeply to patient experiences (and believe them!) is incredibly powerful in arriving at a diagnosis faster. Often, the clues for diagnosis lie not only in the symptoms, but also in patients’ histories and, most importantly, in their own words. Medical schools and hospitals are increasingly recognizing the importance of listening in patient care. Programs focused on narrative medicine, where the patient’s story is considered to be as important as diagnostic tests, are proving effective in improving diagnosis and treatment.

The Role of Family History

Many people do not know if certain symptoms that they are experiencing have also been experienced by other blood-related members of their family. A large number of rare diseases are genetic and many of them are inherited (that is, passed on from one generation to the next). Open and honest conversations with family members about your family’s health history can be an important step in identifying rare conditions that run in your family and may help doctors in getting to a diagnosis faster. National Day of Listening is a perfect time to gather with family members and start the conversation about your unique family health history.
[Link to Know Your Family History]

Erin Paterson is the editor and author of several rare disease books including “Positively Rare”.
Learning her family history led her to get the genetic test for Huntington’s Disease.
In this clip she discusses the need to know your family health history.

The Role of Caregivers and Families

Listening is not just the responsibility of healthcare professionals and patients. Care partners and family members often play a crucial role in piecing together the puzzle of a rare disease diagnosis. Parents, partners, and close friends may notice changes and patterns that the patient doesn’t see, providing invaluable information to doctors. By actively listening to caregivers and family members, medical professionals can gather additional insights that lead to a faster diagnosis.
[Learn more about how patients and caregivers can effectively communicate with their healthcare team]
[Link to Caregiver Resources]

How to Participate in the National Day of Listening 

While you gather with family and friends during the Thanksgiving holiday, here are some ways to get involved in the National Day of Listening:

• Start Conversations: Initiate conversations with family members and ask them to share their stories, memories, and experiences. Then gently ask about health histories for relatives that are living or have passed away. [Learn more on how to start the conversation]
• Record Information: Record important family health history information so that it can be shared with other family members and future generations.Use audio or video recording devices to capture the conversations and stories. This can be a cherished keepsake but also provide important clues on your family’s unique health challenges.
• Share Your Own Stories: In addition to listening, take the opportunity to share your own rare disease story with others. By sharing your story, you not only reduce your feelings of isolation with your disease, but you also help others who might be going through something similar. [Link to Rare Disease Storytelling]
• Listen to Others: If you know someone living with a rare disease or suspect they may be undiagnosed, take the time today to really listen to their story. Encourage them to share their full experience with their healthcare provider and advocate for themselves in medical settings.

Sources:

Awareness Days

Days of the Year

https://www.aamc.org/news/narrative-medicine-every-patient-has-story