About the Speaker:

Sarah E. Kucharski is a patient advocate, speaker, writer, patient, communications and health care consultant

Sarah’s Story

I got involved in patient advocacy because I am a rare disease patient and as a rare disease patient it is extremely important to be able to be actively engaged in care to take a certain responsibility for directing your care because you’re yourself 24/7, 365 and that’s a lot more time than the doctors will ever really get to spend with you. I was diagnosed with a rare disease when I was 31 and it came about because I had done a lot of investigation into my care. My background is as a journalist and so I’d read all the information that I could get my hands on, do the research, read the medical journals and write an email to a doctor at the Cleveland Clinic and said, I know that sounds kind of crazy, but I think that I have this rare disease. She wrote back and said, I think you’re right.

My medical history had been complicated, for years as a teen preteen, I’d presented with gastrointestinal trouble and nobody ever thought GI problems, vascular cause. It took a very long time for us to even get to the point that anyone started looking down that path. I went through having triple bypass surgery that ultimately failed. I lost my left kidney. I had a stroke, four brain aneurysms, three of which were coiled, and a gastric rupture. After having that in a period of about five to six years, that’s when I said he didn’t. Nobody has just this bad luck like there’s got to be something more here. There’s got to be something overarching and that’s when I got serious about doing my research and reaching the diagnosis.

Isolation & Rare Disease

Living with rare disease, anyone will tell you that it’s isolating because you’re not just going to like bump into somebody on the elevator who shares your same diagnosis and it’s not the kind of thing that there are sports group meetings held in the local church basement either and so is really about social media. That without the Internet, without Twitter and Facebook, or even registries and individual hospital systems, their forum board, etc., it would be so incredibly hard to find a patient community. We can maybe be a little less particular in that maybe a person doesn’t have to share exactly our same diagnosis, but they are a rare disease patient too. So they understand some of the struggles of achieving a diagnosis, of routine care, of having anybody else who says, you know, yes, me too, I know what that’s like.

Health & Patient Empowerment

As far as my health, knock on wood, everything’s pretty good right now. Things have been quiet, from just a pure health standpoint, I’m doing great. Thinking about the patient experience and its role in health care for rare disease patients, there’s a saying of when you hear hoofbeats look for horses, but we need providers who are willing to entertain the notion that sometimes hoofbeats are zebras.

We need people who are willing to think outside the box and be curious. Curiosity, I think is one of the most valuable components of any person is what pursues you to find answers, to explore things, to get new knowledge about anything and so I would encourage that risk-taking, that curiosity and if we can use that in a way that advances care, that is not reckless. I think perhaps sometimes people think of curiosity and in rare disease diagnosis as trying to be house MD and it’s not necessarily about that. It’s about really just asking the questions to explore the possibilities.

Rare Disease & Stigma

Having a rare disease inherently. I think people who hear that and they pause for a moment of it may very well be based on fear of what is this thing? Can it impact me? Is it transferable? Anything like that in rare diseases is so much more common than people realize. The last statistics that I read about rare diseases was that combined, they affect more than aids and cancer combined because there are 7,000 known rare diseases. It just means that we’re a very fragmented population, but chances are, you probably know someone with a rare disease and there are diseases that you may have heard of that get a little bit more name recognition that it’s not necessarily as rare as you may think, in a way. It’s not something to be afraid of because actually research into rare diseases has unlocked information about many more common diseases that when you look at research studies and research arms that pursue the mechanisms of these rare diseases, we can find out so much more about things that are more comments such as Alzheimer’s or diabetes.

Outlook on the Healthcare Environment

My overall outlook on the healthcare environment has changed over the past six years or so. In a way, I feel like I used to be more hopeful because I was also more naive. Seeing how long change takes is maddening and depressing in a way. We’re still trying so hard to push some of the same needles that we were trying to push years ago. I’m not someone who’s been at this for 20, 30 years and I’m frustrated. There have been things that have happened politically that have pushed us backward and I worry that for people like me, we may lose some of the protections that we’ve gained. 

I try very hard to maintain a sense of optimism and one of the guys here at Planetree, his name is Alan Manning and he’s actually, I think VP of Planetree. He gave a wonderful lesson on hope as a speaker here a few years ago that he said; hope can change, hope isn’t a stagnant thing. I had always worried that the people who felt like they hoped for change weren’t maybe doing enough to impact it, but we can hope for different things in that whole change along the pathway that it grows and it becomes something that expands based on what we’ve learned. That’s the first definition of hope that I’ve ever really liked. It makes me feel like it does respond to the changes around us.

Advice to All Navigating Healthcare

I want to encourage people to stay at it, to keep trying to make a difference, to maybe know when they get into it that the needle moves slowly, or at least know that they’re not alone in feeling like the needle is moving so slowly. That may be a different problem that we have to solve. We talk about physician burnout, we talk about patient burnout. How can we address burnout from trying to make things better, from trying to find solutions from getting ourselves to a point that we’re not going to give up?