Rare Disease Day 2026
Recently, I spoke at Rare Disease Day; in 2026, February 28 is the official date for Rare Disease Day. I have been living with myasthenia gravis for 18 years, which is a neuromuscular autoimmune disease that impacts fewer than 1 in 100,000 people. This disease has impacted my ability to walk, talk, breathe, eat food, speak, and keep my eyes open (ptosis) among many involuntary functions most people take for granted. I am fortunate to be alive. The other speaker at Amgen’s event on my panel was Lexi Marta, MSPH. We are both recipients of the #RAREIs Scholarship from Amgen. Because of this scholarship, I was able to finish the Post-Baccalaureate Counseling and Psychology Program at University of California, Berkeley–I graduated in December 2025 (with no student loan debt). One thing Lexi and I both had in common is that we would not be alive today if it were not for the medical professionals in our family who recognized our symptoms and got us the proper testing which led to our accurate diagnoses. In my case, my cousin Erika who was Chief Resident, recognized that I had all of the symptoms of myasthenia gravis and took me to the hospital to get the proper blood tests. For four months I had been doing my due diligence–seeing my primary care physician (PCP) who kept telling me I was “just stressed out.” This is a common experience for people with rare diseases, energy-limiting diseases, and chronic pain diseases…or in our cases, all of the above. Moreover, women and other groups (racial minorities, for example) are more likely to be told our conditions are all in our head. One week after I was accurately diagnosed (which happened mere days after my test results came back), I was hospitalized inpatient for ten days. My cousin had diagnosed me in the nick of time. I am very fortunate to have doctors in my family. However, anyone who is sick should have access to timely, compassionate and effective care.
The Need for Awareness
Sadly, because we live in a world where healthcare is inaccessible for a myriad of reasons and even when people access care that does not mean the care is helpful (in fact, my friend the late Erin Gilmer used to write eloquently about ‘med trauma’ and retraumitization) there is a need for increased awareness of rare diseases. While I am grateful that my cousin saved my life, I also think I would have a better quality of life today if the PCP I was seeing for months had taken me seriously and ordered the appropriate tests in a timely manner. Timely diagnosis can literally be a matter of life and death. But, timely diagnosis is also about preventing symptoms from becoming more severe and having quality of life.
300 Million People Impacted
While an individual disease may be rare, collectively, rare diseases impact over 300 million people worldwide. These are some basic facts about rare diseases that were shared at the Amgen event:
- 10,000+ known rare diseases exist
- Only 5% of rare diseases have an approved treatment
- Average time to get a diagnosis: 5 years
- 300 + million people are impacted worldwide
Pictures from the Rare Disease Event
I had a blast meeting Lexi. She’s brilliant, witty and someone who is making a difference in this world. We have a lot in common. She used her scholarship to get a Master of Science in Public Health from Johns Hopkins; I used mine to help pay for my Master of Public Policy & Administration at Northwestern University. (I won the scholarship for three consecutive years; there are multiple winners each cycle.) You can follow Lexi on Instagram at: https://www.instagram.com/thegeminispoonie/
Apply for #RareIs Scholarship
While the 2026 scholarship cycle is closed, this is an annual scholarship. If you have a rare disease and want to learn more, visit the #RAREis Scholarship Fund website here.
–Jessica Gimeno, MPPA
