Nisha Trivedi is a patient advocacy leader for the rare disease community, mainly through the EveryLife Foundation for Rare Diseases. She served a six-year term as a Board Director of the Shanti Project (a longstanding health & wellness nonprofit organization in San Francisco), providing input on the organization’s strategy and development efforts. Nisha was born with Epidermolysis Bullosa (EB), a rare genetic disorder in which a key protein that binds the layers of skin together is missing. EB patients have extremely fragile skin and recurrent blister formation that can result from even the most minor friction or trauma. A staunch rare disease advocate, Nisha continues to support various advocacy groups and has shared her story with members of Congress to encourage them to support policies that benefit rare disease patients.
1) Doctors look for “horses” instead of “zebras” because common conditions (horses) occur much more frequently than rare ones (zebras). This is based on the principle, “When you hear hoofbeats, think of horses, not zebras,” which guides physicians first to consider the most likely explanation for a patient’s symptoms. It’s a practical approach designed to efficiently diagnose and treat the majority of patients, but it can potentially overlook those with rare or atypical conditions. What are some considerations when someone finds out they’re a zebra rather than a horse?
I think something for zebras to keep in mind is that, even if they’re not healthcare professionals, they are, at the end of the day, largely experts on their own condition. They’re going to understand their condition better than anyone else, often even beyond what’s comprehensible by their care team. So, when they experience symptoms that are atypical or inconsistent with their condition, or when they feel in their gut that it could be something else, I think it’s definitely worth pushing and advocating for further investigation.
There have been times in the past when I’ve had health issues that were originally attributed to my rare condition by my care team, but that just didn’t make sense to me. For example, I would question, “Why would this symptom wait all this time to show up now?” It turned out the doctors were wrong. This has happened at least twice that I can think of, maybe even more. I felt as though I was put in this box because I have this pre-existing condition, and so the assumption was made that any new symptom was probably part of that. But it wasn’t, and I found that out because I kept searching for answers.
So going back to that example of experiencing symptoms that were initially attributed to my condition but absolutely were not part of it, I would say to my primary care team, “I spoke to my specialist, and they said that this sort of symptom is not typical of the rare condition I have.” Or I would do my own research. For instance, I might find a research paper that explains that a certain part of the body or a particular symptom is not involved with my condition. So, I bring that specialist expertise and my own knowledge of the condition to someone who may not be super familiar with it. I also discuss my lived experience. I can say, “I’ve been living with this for 41 years, and here’s what I’ve observed, which seems to contradict what you’re suggesting.” We have the ability to do that now. When I was a kid, the internet wasn’t available to us, but now it is, and it’s a powerful tool.
2) How do you advise patients to handle the uncertainty and anxiety that can come with having an undiagnosed or rare condition?
I would generally suggest that one thing to remember is that many people are struggling with similar issues. The so-called “diagnostic odyssey” for many rare conditions can last, on average, about seven years. It’s important to understand that many people have been or are in the same situation. There are now excellent support groups for those with either undiagnosed or diagnosed conditions. For instance, I belong to a couple of EB support groups on Facebook, and discussing our shared experiences can be very beneficial.
These groups can help alleviate some of the uncertainty and anxiety. For example, I’ve been in groups where someone has posted a picture of their wound and asked about what type of shoes might be best given their particular situation. Getting responses from people who have been through similar situations can really help reduce anxiety and uncertainty.
Previously, people without access to these resources often felt like they were navigating everything on their own. But now, there are people they can turn to for support. So, I would strongly suggest tapping into patient networks—this is in addition to anyone on your care team you believe would be helpful in providing support while you navigate the uncertainty.
3) What are some ways that zebra patients can form partnerships with their healthcare providers to work together more effectively toward a diagnosis and treatment (even in the face of disagreement or challenges)? What advice do you have for patients facing disbelief or dismissal from medical professionals about their symptoms?
I’d say it’s about two things. One is being as transparent as possible. I’d tell them, “Here’s why I’m concerned that we might be looking at something else. Here are the experiences that are different from my norm.” Just really lay it all out there. Secondly, I’d advise being politely assertive. Doctors can make mistakes. One lesson I’ve learned over the years is that no one cares more about your health than you do. The doctor has other patients, and to be blunt, they’re not your friend or family. At the end of the day, you are the one who cares the most. It’s important to make sure they are doing their part in caring for you. You need to ensure you’re receiving the diagnostic tests and treatments you need, which I think requires persistence.
So what’s the alternative? The alternative is taking them at their word and potentially losing weeks, days, and months. I think it’s worth being open about what you’re thinking and feeling. Explain your logic in identifying what might be going on, and then being persistent and pushing back respectfully when you feel that maybe they’re not guiding you down the right path or they’re being dismissive.
Believe me; I’ve been there. These are lessons I’ve learned the hard way. I once thought, “If I were the doctor, how would I want to be spoken to?” Or, more importantly, “Would my approach encourage them to look for answers, or discourage them?” When I consider the system they’re dealing with, the demands from insurance companies, and the amount of time they waste on unnecessary authorizations, it’s a difficult context.
At the end of the day, I know I need to take care of myself, which means getting certain answers and a certain level of effort from them. It’s important to build a partnership, to take care of number one while considering what they’re dealing with. There might need to be more follow-ups than I thought necessary. But again, thinking about their day, their week, and understanding that if they haven’t come up with the answers, it’s not necessarily from a lack of trying. The case of a zebra can be a mystery that requires much reflection, repeated tests, and the elimination of causes. It’s definitely a process.
4) What are some strategies and/or resources you recommend for patients to become effective self-advocates in their healthcare journey?
Certainly, community groups can be an invaluable resource. An organization like Patients Rising provides self-advocacy tools for people, particularly for those who are grappling with insurance companies or frustrations on their diagnostic journeys.
In terms of self-advocacy strategies, I think it sometimes needs to be approached like a business relationship. Identify where you are now, where you hope to be, and what needs to happen for you to get there. Formulate a plan for yourself and share these insights with your physician. This isn’t about telling doctors how to do their job, but more about sharing your concerns and goals. For example, you might express that in six months, you hope to have eliminated a few possible causes. Or that a year from now, you don’t want to be in the same place. Eliciting empathy and making them a part of your goals is crucial.
For someone like me with an established diagnosis, it’s a bit different. If I were to tell my doctor, “A year from now, I want you to find a cure,” it wouldn’t be realistic. But for someone who’s undiagnosed or still seeking answers, they might hope to return to how things were before their health changed. If you don’t know why your health deteriorated, it’s natural to wonder why your condition happened at all.
Perhaps focusing on practical improvements might help. For example, if your energy level is at 10%, discuss what can be done to get it closer to where it was. Explain to your care team how the condition has impacted your daily life. It’s one thing to say, “I just don’t feel the same way as I did,” and another to say, “I used to hike three miles every weekend, and now getting up and showering is a win.” Make it clear how the condition negatively impacts your life, why it’s so crucial for you to find an answer, and which symptoms are most distressing. This not only elicits empathy, but also helps the care team figure out where to focus their efforts.
5) In your experience as a patient advocate, how have you seen people transform their diagnosis from a source of fear into a tool for empowerment?
In the face of a new diagnosis or unfamiliar symptoms, fear is a natural initial response. But there are a few key ways to transform this fear into empowerment. Firstly, learning more about the condition through reputable research can be invaluable, as opposed to falling down a Google rabbit hole. Secondly, connecting with other patients can reveal shared issues and experiences. The ability to share personal journeys, a possibility greatly expanded by social media, has been a powerful tool for many. Despite its downsides, social media has allowed individuals to share their stories, struggles, and experiences, creating a domino effect that makes others feel less alone and encourages them to share their journeys as well.
This sharing fosters a sense of community, which is incredibly empowering. Many patients have used their stories and those of others to advocate for the greater good, such as through legislative advocacy. The cycle of education, inspiring others, and using collected information for collective action has had a profound effect.
From my perspective as an advocate, I’ve found an inspiring community of people, and I feel like I’m making a difference. Even though legislative advocacy can be slow, and it takes years to see even a fraction of an impact, it feels like we are not alone. Engaging with other people who are advocating for things like research funding and insurance justice is uplifting.
In the past three years, I’ve had the opportunity to participate in a couple of clinical trials. This was not an option when I was growing up, but now there are multiple opportunities. Seeing this change and being part of the process, despite the nonlinear progress and the time it takes, has been empowering. It’s instilled in me a more positive outlook toward living with my condition.