For many people with rare diseases, the emergency room is a “necessary evil.” You have to go there sometimes, but it’s rarely a smooth, uneventful process. Part of the stress of going to the ER when you have a rare disease is that the staff doesn’t always seem to know how to treat you — in both senses of the word. They may not have heard of your disease or ever treated someone with it before, and may genuinely not know how to help you. And they may also not understand the level of compassion and patience they need to extend to you.
While a rare disease is defined as affecting fewer than one in 200,000 Americans, or fewer than one in 2,000 people in Europe, there are still millions of people out there who have some kind of rare disease. In the EU, as many as 30 million people have a rare disease. Medical professionals should expect to encounter patients with rare diseases throughout their career, and when that happens, they need to know how to make these patients feel supported and cared for.
We asked our Mighty rare disease community to share what they wish ER staff knew about treating and interacting with people who have rare diseases. If you’re reading this because you work at a hospital, hopefully, this list will help inform how you work with rare patients going forward. People with rare diseases just want compassionate care, from someone who respects them and the expertise they have about their own body. These 13 guidelines will help you do just that.
1. Accept that rare patients know more about their illness than you do.
You might have encountered one or two people (if any) with a particular rare disease before … while the person with the disease has to live with it all day every day. It might not be common for a patient to know more about their medical condition than you do, but in the case of rare diseases, it’s just a fact. You can be most helpful by accepting that your patient is more knowledgable than you and trusting what they tell you about their health needs (alongside your own medical judgment).
“I have more than one rare disease and honestly know more than my specialists, which means I probably know more than you, ER doctor. Also don’t be insulted when I ask what you know about my rare disease. I have to advocate for myself because too many of you have almost killed me because you refused to listen to me.” — Honesty L.
“Please don’t assume you know more than me or my specialist. Unfortunately we become experts at knowing when our disease is doing something weird. And we have most likely called our specialist who advised us to go to the ER.” — Nicole L.
“If we come armed with info, we aren’t hypochondriacs. We have to bring the information to keep ourselves safe. We aren’t trying to pretend we know more than you either. We just know we have a rare condition that most people, even physicians, don’t know much about. We are trying to ensure that you and your staff understand the condition and we are protecting ourselves as well!” — Mindy L.
2. A rare patient might not act the way you’d expect at an ER, but that doesn’t mean they don’t need help.
People with rare diseases tend to be quite accustomed to being in the hospital, so they might not act as scared or nervous as a typical patient. They also might have invisible diseases that you can’t even see on the outside. On the flip side, all their years of dealing with doctors and hospitals might leave them with some medical trauma, so they may act even more anxious than you would expect. Don’t mistake these atypical demeanors as proof they are “faking” or “attention-seeking.”
“I’m so used to being at the doctor and ER that I don’t panic. It’s actually calming to know I’m getting help. So if I’m not expressing the reaction you expect, don’t assume I’m not in medical need. I still am. I’m remaining calm to help myself, and because I’ve been through this before.” — Salvatore A.
“Some of us have multiple diagnoses and medical trauma so we might present as super anxious or like we know too many big words about medical stuff but don’t treat us like we are hysterical or hypochondriacs.” — Stephanie E.
“I may not look sick or in pain, and that means I look like I’m attention seeking and wasting your time. Reality is, I’m so used to it, my pain threshold is amazing, and my BP, blood pressure, and O2 levels have decided to stay normal now.” — Franky V.
3. Be open-minded when it comes to diagnosing the issue.
By definition, rare diseases are not commonly found in the general population, so certain symptoms may present differently than you might expect. A patient might experience a symptom in a different way than most other people, so it’s important for doctors and nurses to not make assumptions, and explore all options.
“We might not present with typical symptoms so have an open mind when it comes to diagnostic criteria — for example, patients with primary immune deficiencies might be very ill with a severe infection but will not have a fever.” — Erin Z.
“My child with a rare genetic disorder was having a hypoglycemic episode. I didn’t know that’s what it was, she just seemed off. I talked to the pediatrician two days in a row and they explicitly told me not to take her to the ER, because there weren’t any clear symptoms. The third day a warning bell went off in my mind and I took her to the ER anyhow. She was still walking and babbling when her blood sugar test came back at 40!” — Sabrina S.
4. It’s OK to ask questions.
It’s understandable that you may feel uncomfortable asking a patient questions about their disease and medical care — you are a professional healthcare provider, after all, and you’re accustomed to being the one with the answers. Perhaps you even feel a bit embarrassed when you don’t. But know that rare patients are used to people not understanding their disease, and would much rather you ask questions and provide the correct care than make assumptions and provide the wrong care.
“You can ask me questions. It’s actually better than Google because we are individuals.” — Harmony K.
“If you don’t know much (or anything!) about my disease, have the humility to look it up or ask me more about it.” — Ariana Y.
5. Many people with rare diseases do everything they can to avoid going to the ER. If they’re there, it must be an emergency.
Again, people with rare diseases are very used to having health crises and going to doctors and hospitals. Pssst — it’s not fun! No one really wants to go to the hospital, especially when they are usually met with confusion about their disease. Trust that if a rare patient is at your hospital, they have tried everything they could to manage their health on their own first.
“I deal with complications for months before seeking medical help because there are so few medical professionals in my area that know enough to help me or won’t argue with me about treatment options that I know I can’t do/get/take. Often I am still not helped and have to try to find a new doctor/hospital that I am capable of driving to.” — Jennifer G.
“Just know that we’ve done everything and anything we possibly could to avoid yet another ER visit. By the time we do bring our child in, we’re all exhausted beyond words.” — Yael L.
6. Rare patients don’t expect you to know everything, but they do expect you to be kind and helpful.
Look, as much as a person with a rare disease would love for every physician and nurse they meet to be knowledgable about their disease, they know that’s pretty unlikely. So you don’t need to be afraid to admit that you just don’t know what to do. However, you should still always be kind and do everything you can to help. Compassion and willingness to go the extra mile to do whatever procedures and tests you can do goes a long way.
“We are trusting you to help us. We don’t expect you to know everything but showing interest and reassurance is so important.” — Katy B.
“It’s OK that they don’t have an idea what to do sometimes, ask us, we know [our] child best.” — Miriam F.
“I understand we are all human and can make mistakes and not know everything. As long as you did your best and tried to help, that’s all I can ask!” — Tera S.
7. Call the specialist if you need help.
If you encounter someone with a rare disease, chances are they have a specialist they work with regularly, who is much more informed than you about their condition. Don’t be afraid to call them and ask for their advice. That’s what they’re there for.
“Listen to the patient! We know our condition better than most doctors. And [don’t] hesitate to consult our specialist about our unique circumstances.” — Beth R.
“It isn’t going to offend me if you call my specialist that knows about my rare disease. You don’t have to hide that you’ve never dealt with it. It is a chance to learn about it and help me as a patient.” — Kyra M.
8. Although staff members may gather around out of curiosity when a rare patient is at the ER, be respectful of the patient and their family’s time.
When someone with a disease no one at the hospital has seen before arrives at the ER, sometimes that brings other doctors and nurses out of the woodwork to see this “fascinating” patient. Please, be mindful of the fact that they would probably just like to focus on getting help, not entertain a crowd of onlookers. Give them their space and allow them to get treated.
“Please don’t make us wait for hours, having to recite our child’s symptoms/medical history to countless medical students/residents/social workers who seem to congregate when an unusual case enters the ER doors.” — Yael L.
9. Believe parents when they explain their child’s condition and medical history.
A child’s parents are the ones who administer every at-home treatment and medication, notice every symptom and put a care plan together with every doctor. So they definitely understand their child’s condition! They may not be trained medical professionals, but they spend more time taking care of their child than anyone, and the information they can provide should be invaluable to ER staff.
“Don’t label us ‘The Crazy Parent.’ We do know more than the average medical personnel about our child’s condition. Make sure you document what we really say.” — Kitty O.
“Listen to us parents. We know you have to do certain things but this isn’t our first rodeo. We know what works and doesn’t work for most things when dealing with our kids. Please just listen. Let us explain things to our children before you come in hurriedly and hold our child down. My daughter just needs a minute to freak out and then she will sit calm and still for any test.” — Jessica L.
“We know our child better than you if we tell you something is wrong it is, we are not over-reacting.” — Jennifer J.
10. Even if you have studied the disease in medical school, understand the difference between lived experience and textbook knowledge.
Say you have actually heard of the disease and understand its medical definition and treatment protocols. Hooray! Still, that doesn’t mean you’re as much of an expert on the disease as the person actually living with it. Be open to hearing about their real-world experience and understand that your knowledge only goes so far.
“There’s a big difference between knowing a rare disease through study, and when someone we love has a rare disease we the parents or the person with the condition are the experts — no textbook can correspond to the knowledge we’ve lived through.” — Geraldine R.
11. Avoid passing off a rare patient unnecessarily, but don’t be afraid to admit when you truly don’t know what to do.
When a “difficult” patient comes through, it might be tempting to send them away, back home or to another hospital. This is OK if there’s truly nothing you can do and you believe they can get more help somewhere else. Just try not to turn someone away simply because you are afraid or don’t want to deal with the “hassle.”
“Yes, it seems like a lot and is overwhelming, but we came here because we couldn’t make it to our preferred hospital. Please don’t transfer us for a physical injury that you would be able to otherwise handle. Please do transfer us if it’s outside of your ability to handle. Don’t try to take on something you don’t understand. It is OK to stabilize and admit you are out of your depth!” — Sabrina S.
12. A rare patient or their family isn’t trying to make you look bad if they raise issues with the treatment you’re providing.
Rest assured if a rare patient tries to educate you about their disease, they are not doing this to make you look like you don’t know what you’re doing. They just want care, and in order to get that they may need to get you up to speed on their disease. It’s not personal — sometimes it’s a matter of life and death.
“I’m not trying to make you look bad, I’ll respect you more for asking ‘what is that.” — Marnie B.
13. Ultimately, listening to the person with a rare disease and having a compassionate, patient attitude goes a long way, even if you are unfamiliar with the specific disease.
You’ve probably noticed a consistent theme throughout this list: just listen. People with rare diseases go through life being misunderstood and dismissed. You can make them feel supported and cared for by giving them the chance to share their health history, truly listening to their experiences, and treating them as a partner as you give them the best care you can. You both have the same goal, and respecting their knowledge about their own bodies will help you accomplish it.
“One thing: Listen. You have two ears and one mouth for a reason. How can you treat me if you don’t hear me?” — Mikki I.
“We are a bit different than your average case, you may get frustrated because you don’t know much about it or don’t know how to help but trust me, we are just as frustrated! If you can, please try to be patient in figuring out what’s going on. It’s not fun for us either!” — Tera S.
For advice about what you can do to get the right care at the hospital if you have a rare disease, check out these stories from our Mighty community: