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What It's Like to Be a Patient With a Rare Condition

People often ask me questions like what it’s like living with my health issues, or ask me specifically about them, but most recently I’ve gotten asked what it’s like to be diagnosed with a rare syndrome.

Since I was about 15 years old I’ve lived with epilepsy, a fairly common condition. 11 years later I was diagnosed with nutcracker syndrome and pelvic congestion syndrome, and one year later I was diagnosed with pudendal neuralgia. However, I still don’t have a definitive diagnosis for my chronic pain.

What Is It Like Living With a Rare Syndrome?

Well, when my pain first started, I never thought in a million years it would lead to a diagnosis of a rare syndrome. I was fortunate to get diagnosed pretty quickly (in about a year), as opposed to some other people I’ve talked to online who it took five to 10 years to get diagnosed.

After getting diagnosed I thought things would be easier, but they weren’t. I went to approximately 14 different doctors before I found the right one. Most doctors, including specialists, hadn’t heard of it, and even the ones who had weren’t really all that knowledgeable. I was like a trophy to some of those doctors, a prized possession, because no one had ever seen someone like me. I was rare…like a unicorn (yeah, I know they don’t exist!).


I had doctors lie to me about risk factors to maybe potentially coerce me into choosing that treatment. Luckily I was educating myself and knew better. I had doctors even recommend treatments that were harmful because there’s not as much research out there as for other conditions. Which is why with any illness you need to educate yourself and advocate for yourself, but especially when it comes to a rare condition.

Symptoms for a Rare Syndrome?

When you have a rare syndrome/condition and start experiencing symptoms, you may often start to question if they’re part of your diagnosis, “in your head” or part of another condition entirely. There’s not much of a guideline to go by because there’s not really much research out there, and the doctors themselves unfortunately are not often that much of a help either. The people who help you the most are other people diagnosed with it.

Joining a support group is helpful, but soon you might find the other people have other things wrong that you don’t or vice versa. It’s a confusing thing and you can only keep track of what’s going on. Sometimes you have no idea if your symptoms are a part of your rare syndrome or not – you really just never know. And sometimes you wonder if you’re just being paranoid.

Treatment for a Rare Syndrome?

Now, every rare syndrome is different, but what I was diagnosed with had several different options. The least minimally invasive was a stent; however, stents sometimes migrate and can potentially be dangerous. The next are surgical options. The results are pretty iffy. I mean, there are some successful cases, and there are some not successful cases. That’s kind of how it is. Meanwhile you’re in pain and your rare syndrome is damaging your kidney and you have to do something. Oh, that was a treatment option mentioned to me by one doctor. One doctor recommended I do absolutely nothing and let my kidney fail. What?!

You have to educate yourself the best you can when you have a rare syndrome and don’t just listen to the doctors. Look at research, talk to people (but take it with a grain of salt because everyone is different and every surgeon has different skill levels – if surgery is an option). And don’t make a decision on a whim. Make an educated choice.

Results of Treatment for a Rare Syndrome?

When you don’t have a lot of options (depending on the syndrome) or research, you might not know how it’s going to go. For some people, your option may work gloriously, and for others, it may fail. That’s just how it is. (And yes, I understand that’s how it can be with conditions that aren’t rare as well, but generally there’s more research on better-known conditions.)

For my treatment choice, I chose a surgical option. It relieved a lot of my symptoms; however, it did not relieve my pain. My pain, I believe, is caused by something else. When researching all the surgical options, I had studies of about four or five people, and that was it. Sometimes the studies included fewer. There isn’t a sufficient number of studies, but you work with what you’ve got and you make the best educated “guess” as you can and do what’s best for you.

What’s the ER Like for Someone With a Rare Condition?

As someone with a rare condition, I try to avoid the ER if possible, though it’s not always possible. Sometimes the pain is too much – or whatever else is going on – and I can’t get ahold of my specialist and sometimes I have no choice.

However, the ER’s primary purpose is to get you stable. They may temporarily treat your pain then boot you out the door and tell you to follow up with your doctors. If you don’t know what’s causing your pain (as in my situation currently), they may try to find a solution or rule a few things out, but after a while they may just say you’re OK – even if you’re in pain – and just determine you’re stable and send you on your way nonetheless.

I don’t hate ERs, I really don’t. I’m a nurse myself, and they serve a great purpose and they save many lives, but as a chronic pain patient and a diagnosed epileptic, I have been treated poorly by many ER staff. I’ve been called a “liar” and a “moron” on numerous occasions, been told I was drug-seeking (despite not asking for any pain meds)… It’s a medical profession – where’s the compassion? That’s all I ask.

I never look forward to going to the ER if I have to go, but sometimes it’s unavoidable and I do what’s best for myself. I advocate for myself if I feel mistreated in any way and educate the staff. That’s another thing – the staff often have no clue what your rare condition is – and rightfully so, because it’s rare. So you may need to be prepared to explain it a million times.

Occasionally you’ll find a doctor, nurse practitioner or physician’s assistant who pretends like they know what it is. Not to insult them, but most of the time they don’t really know what it is. I don’t expect or think less of any doctor, nurse or medical professional who doesn’t know everything. That would be impossible. Ask me questions! Tell me upfront you’ve never heard about it and I’ll be happy to explain in detail. It also makes me trust the doctor more when they’re upfront with me. I always tell my patient when I don’t know the answer to a question. Then I go and find out for them. No sense in BS-ing them or lying to them or providing them with false information.

So yes, living with a rare medical condition can be frustrating at times…especially when you don’t know what’s going on with your body and whether or not it’s the cause of x, y, z symptoms, but you learn to deal with it one step at a time.

Educate and advocate for yourself…my best advice.

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