By Erin Migdol

Staff
Rare Disease

18 Things People Need to Learn on World Rare Disease Day

just because a disease is rare, doesn’t mean the issues facing it should be ignored — a lesson that is exemplified each year on World Rare Disease Day. This February 28, the people affected by more than 7,000 rare diseases will come together for a day of advocacy and education. Patients and their loved ones are invited to raise awareness of the 350 million people living with rare diseases and how politicians, researchers, communities and society at large can make a difference in their lives.
We partnered with Global Genes to find out what the rare disease community wants others to learn on World Rare Disease Day. These are the lessons that can help people understand why awareness of rare diseases is so crucial. And if you’re interested in getting involved in Rare Disease Day in your city, check out these ideas.
Here’s what the community told us:
1. “Genetic testing needs to be more accessible and less expensive. Sometimes it is the only way to get a diagnosis. Even if the diagnosis is difficult, it’s better than not knowing.”
2. “Research is crucial. Not only can it lead to treatments but it also helps raise awareness about each individual rare condition. This, in turn, can reduce the wait for a diagnosis and reduce the number of misdiagnoses people receive on their diagnostic odyssey. To me this looks like a win/win/win/win scenario.”
3. “The disease is rare but the human needs and dreams are common. Every patient has the right to live no matter how small the number is. The support for rare disease in many countries are little because the number is small, but when each disease comes together, it is not so rare.”

4. “Early diagnosis and early intervention are essential. There have been such incredible advances in genome sequencing, doctors need to think zebras when they are not sure what’s going on with a patient. My daughter was diagnosed and started treatment at 14 months, the average child waits years for diagnosis.”
5. “Invisible does not mean nonexistent, a good day does not mean cured and a long-term fight for a family requires reserves that can sometimes be misunderstood. We do the best we can and at the end of the day, we are are loving our children and trying to live our best lives possible, too.”
6. “I know it’s natural to be curious, to stare, but please smile, say hello. They are people, too. They may not see, hear or know how to respond, but their caregiver, loved one or friend will help spread awareness, knowledge and kindness in return.”
7. “You may not fit the criteria of a rare disease but you can still have it. I had a disease when I was 2 that is rare but is more common in boys and Asian ethnicities. I don’t have any Asian background and I’m female but still had it. Don’t let misdiagnosis settle with you.”
8. “Even if we have a diagnosis, it doesn’t mean we have all the answers. Rare can mean there aren’t many (or there isn’t any) studies, information or treatments.”

9. “The act of listening seems simple enough, but many are never heard when sharing or explaining important information regarding their rare disease. It is a daily struggle to have someone partially understand or relate to how and why a rare disease can be difficult to live with. Especially when on the outward appearances you look normal, or people perceive you to being healthy.”
10. “We need more specialists and doctors to take interest in rare disorders.”
11. “You don’t have to completely understand in order to be supportive. People with rare diseases (like mine, Cushing’s) can often feel alone, isolated, afraid. The tests, procedures and treatment are so hard to go through. I want people to learn to do something. Show up for your friends and family. Seek to understand what they are going through. Offer to do things like drive to doctor appointments, make a meal, clean the kitchen. Isolation is so common with people with rare disease — when you find out someone is going through any part of the process know that they are fighting so hard — harder than you could probably ever imagine.”
12. “Doctors — don’t blow us off or tell us it’s ‘all in your head.’ I have a rare disease and probably know more about it than you learnt in medical school. Listen to us. We can teach you a thing or two.”
13. “If you’re interested in learning about the disease, please ask. Googling only scratches the surface and what you will find is so very pale in comparison to the reality.”
14. “I’m really not that different. I want many of the same things you do. I want to be included in group projects and discussions. I really am more like you than not.”
15. “Some people never get a diagnosis. That doesn’t mean we’re making up our illness;
 it just means we don’t know what is causing it.”
16. “Not every rare disease presents in textbook fashion. My rare disease looks nothing like what even generalized medical practitioners are familiar with seeing or hearing of from textbooks. That doesn’t mean I don’t have it or I’m doing really well with it and those statements completely invalidate the pain my disorder causes.”
17. “We were all — at one point — undiagnosed. Rare conditions are often harder to find and don’t necessarily show up in standard medical tests. Please don’t be so quick to suggest that our symptoms are somatic.”
18. “Being unique medically is hard. Every day there are a thousand adjustments to operate and achieve at the same level as everyone else.”