Having an Autoimmune Condition…Without Having a Clear Diagnosis

This is Episode Eleven of “Autoimmune Disease: Pieces of the Picture.” Dr. Falk interviews a patient who tells her experience of developing autoimmune disease symptoms. This patient describes what it’s like to deal with symptoms that fit the description of an autoimmune disease process but is unable to receive a clear-cut diagnosis for what is happening. She talks about feelings of doubt and uncertainty as well as handling fatigue and flare ups, and provides listeners with her thoughts on how to cope when this happens.

Ron Falk, MD: Hello, and welcome to the Chair’s Corner from the Department of Medicine at the University of North Carolina. This is our series that explores topics related to autoimmune disease, to help patients and their loved ones understand and manage their condition.

Today’s episode is different from that which we’ve done before. Today we have a person, Kristen, who has an unnamed autoimmune disease. The reason why we wanted to have Kristen here today is that so many patients have a constellation of what they feel and what physical findings they may have that don’t permit a clear diagnosis. We’ve had discussions about lupus, about autoimmune hepatitis, about rheumatoid arthritis. Those are clear cut and well-described diseases, but there are so many people who have autoimmune conditions without a label. That’s what we want to talk about today. Welcome, Kristen.

Kristen: Thank you.

An ordinarily healthy person who suddenly develops symptoms

Falk: Tell me a little bit about you, and what you were able to do prior to your illness.

Kristen: I am 35 years old and I’m married, I have three children and I live in Durham, North Carolina. Before I got sick, I led a very healthy, very active lifestyle. I was running half marathons and doing a lot of long distance running and I was competing in local races and doing very well for myself.

Falk: At the same time, you’re a mom, you’re an athlete, you’re employed and have a full time busy job.

Kristen: Yes.

Falk: So before this illness occurred, you were an incredibly productive 35-year-old mom.

Kristen: Yes, and I had zero history of any kind of health problem.

Falk: When you became ill, the illness came out of the blue, you would have had the typical cold or other kind of community-acquired illnesses of otherwise healthy individuals. What we’re about to describe is really a different constellation of things that were bothering you. What were those? How did it start?

Kristen: I think I noticed things starting when I couldn’t run like I normally could. It felt painful to run, which was a really new feeling for me.

Falk: Your joints were bothering you?

Kristen: No, I was getting out of breath and it just felt really hard to do, and so I basically slowly stopped running. It was more than just in my lungs, my body was tired and I was having pains. I started having more pains even when I wasn’t running–I developed pains in my chest.

Falk: So you went to see a physician, and that physician said what?

Kristen: Between when I made the appointment and when I was seen, my chest pains became a lot worse and she ran some tests.

Falk: Over the course of time it became clear that some of this pain might have been due to inflammation of the lining around your heart. But that was not diagnosed right away – people were not clear whether you had inflammation of the lining of the heart or not.

Kristen: In a very short amount of time, I became very sick. I was having chest pains that escalated to extreme pains and found myself in the emergency room, because I did not know what was going on and the doctor didn’t know what was going on.

Falk: And you also saw a heart doctor who also did not know what was going on.

Kristen: Yes. When I visited the emergency room, I think that the doctors saw me as a very healthy looking person without the obvious risk factors. I wasn’t overweight, I didn’t have anything wrong with any of my blood work that they could see right away. I think that I was seen as somebody who was maybe anxious.

An unclear picture & feelings of doubt

Falk: A mom who is coming with unclear chest pain but doesn’t have an obvious diagnosis. In your mind, did you start doubting whether there was anything wrong with you?

Kristen: Definitely. I didn’t know if I was making this up in my own head or if it was a real thing that I needed to take seriously.

Falk: And when you would look down at your hands, and your hands would turn white, if not blue, which really is associated with something called Raynaud’s syndrome, what did you think about that obvious difference in your hands?

Kristen: When I started to have the Raynaud’s, I thought that I was just cold. I think a lot of these things, I just made up an explanation in my mind for what was happening instead of thinking that I had a disease. I definitely didn’t think that it would be a long-term condition that I would have to deal with. I thought, “I’m cold.” Or, “I’m stressed out.” I didn’t really know, and I think that the fact that the doctors couldn’t tell what was wrong right away, made me doubt my own observations of myself.

Falk: If one had found on a blood test for example, that you had a disease like lupus, that the blood tests showed you had lupus, then all of a sudden one would have been able to say, “Oh, this lady has pericarditis, and she has Raynaud’s, this must be part and parcel of lupus.” But without those positive blood tests, and without the certainty that there was pericardial inflammation, physicians had a hard time coming to say to you, “Wait a minute, your inability to run, your cold hands, your chest pain, you’re feeling poorly, doesn’t have a diagnosis.”

Kristen: I was also feeling some pretty terrible joint pain in my ankles. I think that as I noticed more and more of this happening and was able to report that to the doctor, then they were able to run more tests and the ANA test turned out to be a positive ANA. The ANA seemed to be a clue, but it was made clear to me that it wasn’t something that could be used for a diagnosis.

Falk: Because so many healthy individuals have a positive anti-nuclear antibody, so it’s not a diagnostic test.

Dealing with fatigue & unpredictability

Falk: You also were very tired, is that right? So many patients have what I describe as an animal fatigue. When one’s tired, it’s not just, “Oh, I’m tired and I can press through this.” This is fatigue that put you into bed.

Kristen: Yes. When this started happening it felt like I had the flu—that’s the kind of fatigue that I was feeling.

Once the chest pains, the pericarditis resolved, after a few months, I think I noticed the fatigue much more. I was definitely experiencing fatigue in the early months of it, but in the last year, I have had fatigue that comes on suddenly and just knocks me off my feet. Basically I can’t do anything for maybe a day or a weekend, and can’t cook, and sometimes can’t go to some of the school functions. I’m not able to just do the ordinary things that I like to do.

Falk: So what you’re describing, which is typical of an autoimmune disease, is a process that’s coming and going and coming and going, to a certain extent, relapsing and remitting.

Kristen: Yes, I think when all of this started a year ago, there were a lot of symptoms that I experienced all at once, and then I kind of started feeling better after three or four months. Then there was a period of time where it was unclear if that was just a one-time thing or if it was going to come back. So I think that my doctor and I were waiting to see what would happen next.

Falk: So eventually you found a physician who was able to listen and able to figure out with you what was going on. That process didn’t happen immediately, it took a while to figure out who was most aligned with you.

Kristen: I actually didn’t have a regular doctor and trying to find somebody in a short amount of time who I could trust was really challenging. I didn’t necessarily know what I needed. I was so fortunate to find my doctor, who listened to me, and was able to thoughtfully go through this process in a way that was supportive. She didn’t jump to conclusions but she didn’t rule out autoimmune disease or viruses. I felt like she went through the process in a way that I could trust.

Falk: It took you a while to find somebody and that relationship is really essential to patients with an autoimmune process that’s not clearly labeled. You went to a general internist who you just described who was able to have that relationship. I think many times it takes a while for patients to figure out who to go to find someone and not feel dismissed.

Kristen: Right.

Falk: How do you deal with the fact that this process comes and goes and it’s not predictable? How do you deal with that internally, yourself, and how do you have your family understand when these things are happening, and what do you tell your friends?

Kristen: When this started happening, it was really hard because when I started getting better, my family would think, “Oh, I’m so glad you’re feeling better now!”

Falk: Back to normal mom! And hey mom, can you do the laundry?

Kristen: Right, and I knew that I couldn’t count on me being back to normal. Over time my husband and my family could see that I’ve had flare ups of symptoms. Sometimes I have a rough week and sometimes I have a good week, or it could just be a bad day.

Falk: How do you separate out a bad day if it’s just a bad day in contrast to this is a bad day walking in?

Kristen: For me, I can usually tell when I wake up how tired I’m going to be. Then I can tell that I need to take it easy.

Falk: So you’ve learned is how to listen to your body. But that took a while to get to that spot. So one of the take-home lessons is really not doubt yourself and feel comfortable being able to say, I’m not able to produce today and those around me need to take care of me.

Kristen: My husband is really helpful with that. He notices when I’m trying to do too much and points out when it’s more than I can handle realistically.

It is hard to try to explain to people who don’t understand what’s going on, and to feel like what I’m going through is valid. Some of my friends might not get what’s happening. But not being able to say “I have this specific condition,” is hard.

Not being able to name your disease, and information on the web

Falk: It’s hard—if you say “I have lupus” or “I have rheumatoid arthritis,” then one can Google rheumatoid arthritis. What happens if you Google the word autoimmune disease? What comes up?

Kristen: Well, if you Google autoimmune disease, you actually could pull up a lot of information from wellness web sites that are talking about certain diet that you ought to follow if you have an autoimmune disease process. That’s some of the top content that I’ve pulled up online.

Falk: Did you try those diets?

Kristen: Not really, no. In the back of my mind, maybe I think I should. But to go through something like that for a long time without knowing if it would really help, would be miserable for me.

Falk: They’re advertised content. These diets have not been proven effective, but if a patient figures out that there is something that they’re eating that makes them not feel well, that’s probably the best sign that the diet will help. There are antigen elimination diets where there are foods where for that particular individual make that individual feel poorly. Believe it or not my spouse doesn’t like chocolate, chocolate makes her feel terrible. There are real individual foods that make people feel poorly. But to be put on a diet for autoimmunity is not really what you were looking for—you were looking for,”How do I deal with what’s going on with me?”

Kristen: Yes, and truthfully I’ve probably done a lot of searching online of information about autoimmune disease and how to deal with it that really couldn’t be answered by the Internet or even really by a doctor—things I’ve had to learn on my own.

Falk: Such as? Give us some examples.

Kristen: Okay. It’s only been a year since I’ve been dealing with this, and it’s been helpful for me to realize that I shouldn’t put so much thought into, How am I going to be feeling tomorrow? Or What’s my health going to be in a month? What’s my health going to be like a year from now? Trying to predict or trying to plan what my health is going to be like.

Falk: It’s a beautiful, sunny day today, you better enjoy that day.

Kristen: Exactly.

Falk: It really does cause one to enjoy when one feels well and make the most out of that time, because you can’t predict what tomorrow is going to bring.

How do you deal with friends or sometimes even strangers, who know a little bit about you, and they launch into a series of home remedies of one kind or another?

Kristen: I think that some people just want to help and they don’t know how. Some people have an idea of what might be going on with me. Hearing suggestions about diet or lifestyle changes can be hard to hear. So what I’ve learned is for me not to do that myself to other people, and I may have been guilty of that in the past. Someone who’s sick, and I would suggest, “Maybe you should take zinc” just different suggestions, trying to help.

Falk: People want to help but they don’t know how. Sometimes just being there is the best remedy.

Kristen: Yes, and I think that the people who are closest to me are the ones who have been able to understand and be there for me and help me through this.

Positive parting thoughts to others who may be in a similar situation

Falk: And right now you’re doing incredibly well and getting back to health. This concept of restoration of health—you’re trying to get back to where you were, and there are times when your health is restored and there are times when it’s not, just being there through the ups and downs is critical.

What take home messages do you want to leave folks with?

Kristen: Well, I think I would say to be patient and trust yourself. You may not have an answer when you want it. You may want to know what’s going on that day or that week and you may not have an answer for a really long time about what’s going, so just being patient in that process. Find a physician you can trust who is willing to listen to you and take you seriously. And surround yourself with people in your life who care about you and show you love. The last thing I would say is finding meaningful work or doing something meaningful in your day that has nothing to do with yourself, has nothing to do with your disease, some way that you can help someone else that day, can be really helpful.

Falk: Wonderful messages for all of us. Kristen, thanks so much for being here, being so open and spending time here today.

Kristen: Thank you.

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