A Rare Self-Diagnosis: Alec's Life with SAPHO Syndrome

So could you tell us a little bit about your condition, the symptoms, and what it means for you to live with this on a day-to-day basis?
I have SAPHO syndrome, which is a pretty rare disease that affects the bones, joints, and skin. SAPHO stands for Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis. It’s a lot like psoriatic arthritis combined with something else called CRMO (chronic recurrent multifocal osteomyelitis). Essentially, my bones are often inflamed and that’s called osteitis and hyperostosis.

And then I also have a lot of joint inflammation, like you would have with RA.  

There are other symptoms of the condition, such as psoriasis and acne. On the one hand, I’m lucky to not have more of the visible symptoms. On the other hand, some days I would trade those for not being in pain.

One of the most interesting things about my experience of SAPHO syndrome is not looking sick when I really am in trouble.

So you definitely identify with the invisible illness?
Yeah, absolutely.

You mentioned that SAPHO is a rare condition; what was the diagnosis process like for you?

In March or April of senior year, I was sailing a lot and my clavicle started hurting. I went to see a couple different doctors in sports medicine, and they said "We can’t see anything wrong.” After going through MRIs and X-rays, no definite conclusion was determined. One particular doctor even went as far as to say “Sometimes people just get inexplicable pain. Take some advil."

Ultimately their advice was, “You could rest and that would probably help it." And I was like, “I’m not going to do that; I have 2 more months of [sailing]." So I just took a lot of ibuprofen and kept doing my thing until I graduated. And then I let it rest.

It never really got better… Then, there was a day in November of 2015 when I was out playing touch football with my friends and felt a little funny all of the sudden. I went home and 3 hours later, I couldn't walk; both of my knees were like grapefruits. That was pretty scary.

I went back to the doctor that I had been seeing and he said, “I don’t really know what’s happening; everything looks fine." I got a steroid injection which didn’t really do anything, so I started doing research of my own online. My dad is a doctor as well, so I was talking with him a lot. 

Doing my own research was when I first learned about SAPHO. The condition is unique in that one of the telltale signs is bone inflammation in the clavicle and sternum. And that’s where I had a lot of pain. The two sides of my collar bone were sticking out because they were so inflamed.

So I called my dad and I said, “What do you think about SAPHO?”

And he responded, “No way. No one has that." 

It was at that point that I went to see a rheumatologist. They did some blood work to check for rheumatoid arthritis, which was negative. And, around that point was when I started a generic course of treatment for whatever auto-inflammatory condition I may have had.

It began with trying non-steroidal anti-inflammatories, Advil, Aleve, Methotrexate and other drugs, with little success. After that, I started a biologic called Enbrel. The whole process was maybe 6 weeks long, which is very short to get to a biologic. 

And this was before you had a diagnosis?

Yep. We were running with something like psoriatic arthritis because I did have some psoriasis on my hands at that time. I was obviously inflamed in all my joints.

After I started Enbrel, my rheumatologist said, “Let’s do a bone scan to see what’s going on in your clavicle area.”

I did the bone scan and my whole clavicle region was just lit up. That was pretty definitive. I called my dad and I said, “I told you so." And he called all of the doctors he had spoken to and said, “I told you so."

At that point, though, the course of treatment is really the same because SAPHO hasn’t been studied (in depth). There have only been a handful of interventional studies on it.

It’s always a struggle to get treatment because there aren’t FDA-approved medications specifically for SAPHO.

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I called my dad and I said, “I told you so." And he called all of the doctors he had spoken to and said, “I told you so."

Can you tell us a little bit more about what your treatment journey was like after receiving a diagnosis of SAPHO?
It’s mostly involved Enbrel (now Humira), Fosamax, Prednisone, and non-steroidals as needed. Luckily, the drug companies that make biologics have copay assistance programs that offer stipends to patients. Without it, my copay for a month of my most expensive drug would be $250. Without insurance, it would be almost $14,000. That one medicine costs more than most people make in a year, by a long shot.

If I couldn’t afford this medication. . . it’s inconceivable to me what my life would be like. I would probably spend the rest of it in the hospital. And that’s not helpful to anyone.

I’m still not doing great, despite all of the medicines I’m on. I still have pain everyday. I’m still tired all the time, but I can do things to contribute to society. And if that were to go away, I would be in my bed with no quality of life on welfare.

Given your personal experience, what has working at Clara meant to you?

 I am incredibly lucky to be here, working on something that I’m really passionate about. On the days where I struggle to move around even, I really look forward to coming here.

I honestly think that without working here, contributing to this space, or feeling like I was helping, I wouldn’t have been able to do it. There are even days where I’m in too much pain to sit in a chair, or my hands are too swollen to type, but I genuinely want to keep working because I love what I do.

I’m still going through different treatments, I’m still trying new things, I’m still living a fraction of the life I was living -- that I should be living. But without this, it would be a lot easier to run out of things that get me out of bed in the morning.

What advice might you offer to someone who has been recently diagnosed with SAPHO syndrome, or a similarly chronic and debilitating illness?

This might seem a little cynical but. . . It’s going to be hard, and it’s always going to be hard. Your life has changed; you can do with that what you will. For me it was like, “O.K., I don’t like what I’m doing and I only have a limited amount of energy and willpower, so I’m going to use it to do something that I really care about."  

I think it actually does help you figure out what is really important to you, because you don’t have the time or energy to deal with anything else.

And you have to be selfish, that’s really important. You shouldn’t feel bad about it.

There are good days and there are bad days, you know, and maybe there are some things you can do to change that, and maybe there aren’t. But for a job, you’ve got to find something that, even on the bad days, you’re still comfortable.

It’s going to be hard, and it’s always going to be hard. Your life has changed; you can do with that what you will.


Finally, as an ending note, what is one question that no one thinks to ask you about your experience, but that you wish they did?

I’ll say this -- one of the really hard things is that people want to understand what it’s like. Or in helping you, they think they understand. But a lot of times, despite anyone’s best intentions, it still is clear that they don’t. But also there’s two sides to that, because I wouldn’t want anyone else to know what this is like. It’s not exactly pleasant.

I guess a question would be, if it’s someone close to me, having them ask:

“I want to see you. What is something we can do?”

That’s really powerful. It shows they are not trying to say “Oh you can just deal with it and we can do these things I want to do, or I like doing." Instead it’s saying “I want to spend time with you, what is going to work for you?” 

I would also like to end with this -- 

Don’t make assumptions.

And I don’t mean that in a rude sense. But there are days where I’m limping through the grocery store, and people are looking at me like “What is this kid’s deal? He looks fine, what is he doing?”  

And I’m just trying to get through my day. It’s not like I want people asking if I need help or something like that, but sometimes it feels more like a “What’s wrong with you?” question.

It’s really hard for someone with a chronic illness to be comfortable telling any random person “Oh I have all this going on." And it’s not that I think they’re being unkind or intrusive, it’s just something I think about. You never know what’s going on. 

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Kiran is a writer and researcher who specializes in public and mental health. She is currently a student at the Harvard University Graduate School of Education, earning her masters in Mental Health Counseling.