Recognizing Zebras: A Rare Disease Day Discussion

In recognition of Rare Disease Week and Rare Disease Day, the HCLDR tweetchat on Tuesday February 28, 2023 at 8:30pm ET will be dedicated to this topic. We will have special guest hosts: Heather McCullen @H_SalemOaks, Jamie Roger @JamieRoger8, Kevin Freiert @K_SalemOaks, and Erin Moriarty Wade @EMoriartyWade.

Together, our guest hosts wrote the following blog to preview this week’s topic.

The last day in February is Rare Disease Day around the world. It is a day meant to raise awareness of and generate change for people living with a rare disease.

Rare diseases are not rare when you look at them in aggregate. Rare-X published a study in 2022 that identified 10,876 distinct rare diseases and that number is growing. There are over 30 million people in the US and over 400 million in the world who are affected by rare diseases – and those estimates only include the patients not the parents, caregivers, siblings, etc. Only 5% of these disorders have approved treatments. And it takes 6-8 years for many to get an accurate diagnosis. Sadly, half of rare disease patients are children and 30% of them do not live to age 5.

The National Economic Burden of Rare Disease study done by the Everylife Foundation estimates the annual economic impact on the US economy is $966 Billion, and that may be an underestimate. The same study estimates that the per family annual cost ranges between $60,000 and $80,000.

Behind these numbers are patients and families who face major challenges in their lives — from delayed diagnoses and inadequate treatment options to staggering medical bills and stunted careers. The financial and emotional toll of living with a rare disease is hard to fathom unless you personally have experienced it.

And rare diseases can cause huge challenges for physicians and other medical professionals. It is unrealistic for any healthcare provider to recognize all 10,000+ conditions and there are very few experts in some of these disorders. Many times, the published literature only consists of a few case reports. These conditions can require disproportionate time to research, understand, and monitor.

The healthcare systems in the US and elsewhere were not designed for rare disease patients. The general expectation is that when you go to a healthcare provider, they will do the appropriate examination and test, make a diagnosis, develop a treatment plan, write the necessary prescription or orders, and give a prognosis. This path is not guaranteed when someone presents with a rare disease.

Instead, the journey looks more like this:

  • They go on a diagnostic odyssey.
  • Many times, the prognosis is unclear. 
  • Treatments, if any, are symptomatic or palliative.
  • Access and reimbursement are hampered because the vast majority of these disorders do not have ICD-10 codes.  Even if they do, payers often do not pay for off-label treatments. 

So, what would an ideal healthcare system for these rare disease patients, all 400 million of them, look like? What would need to change? How do we help them manage today?

Join the next #hcldr tweetchat on Tuesday February 28th at 8:30pm ET (for your local time click here) when we will discuss the following questions:

  • Q1 For those living with or caring for someone with a rare disease, what advice do you have for people who want to help? What should they say/not say, do/not do?
  • Q2 How can advances in technology help to lessen the burden on rare disease patients and their caregivers?
  • Q3 How might medical professionals balance accurately diagnosing and treating people with rare diseases with the rest of their caseload?
  • Q4 What can we do to raise more awareness for Rare Diseases all year long? What gets forgotten that needs the spotlight?


“RARE-X Releases New Report that Uncovers Large Number of Previously Uncounted Rare Diseases”, Rare X, 7 June 2022,, accessed 26 February 2022

“What is Rare Disease Day?”, Rare Disease Day, 2023,, accessed 26 February 2022

“The National Economic Burden of Rare Disease Study”, EveryLife Foundation, 2023,, accessed 26 February 2022

“COVID-19 makes living with a rare disease even harder”, NIH Medline Plus, 22 March 2022,, accessed 26 February 2022

Image Credit

Rare Disease Day –

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