The 2 Types of Doctors You Need to Know About If You Have a Rare Condition


Like many patients with chronic and rare diseases, I am forced to do thorough research to find specialists capable of handling my complex case. I research, make some phone calls, research some more, and depending on how the search goes, I eventually make an appointment with the specialist. I’m often told, “Oh yes, Dr. Smith knows about stiff-person syndrome (or any of my other conditions).” That’s fantastic Dr. Smith is aware of the condition. It’s a huge actually, but has Dr. Smith ever treated a patient with that condition? If so, approximately how many? In this scenario, Dr. Smith may have only seen or heard of one case, perhaps when they were in medical school years ago.

This a critical difference between a doctor being generally aware of a rare condition, but having a doctor that truly knows and understands what they are doing can make all the difference. They are dramatically different. For instance, a doctor might have heard of stiff-person syndrome and know that it causes muscle spasms, but they may not know that such spasms can compromise my throat, vocal cords, and diaphragm. Muscles that are essential for sustain life and respiratory stability. As a result, they aren’t sure about how to treat it.

In the spoonie community, I’ve noticed that many patients get an appointment with a “specialist.” They have been searching desperately for answers and doctors that can help them; many after years of struggling. So they get their hopes up, only to have their time and money wasted. Because a doctor may not have extensive knowledge on the condition or the treatment options, it is important to distinguish between doctors that are aware of the condition and doctors that are not only aware and understanding, but have successfully treated people in the past.

It’s taken me a while, but I’m realizing that detailed inquiries about the subspecialties of the doctors while making an appointment can save valuable time and money. So just remember, doctors seeing or hearing about isolated cases of rare diseases is different than a doctor who has treated several patients with the rare condition. Hopefully this helps to explain doctors and how small questions or information can make or break the experience. Remember, there’s a difference between a doctor that is just aware and a doctor that has seen and treated several people with the rare condition. With that in mind, hopefully we can reduce the number of disappointing appointments and reduce the waste of time, financial, physical, and emotional resources.

We want to hear your story. Become a Mighty contributor here.

Gettyimage by: Wavebreakmedia


Find this story helpful? Share it with someone you care about.


Related to Stiff-person Syndrome

woman receiving an infusion while her nurse stands by her side

What It's Like to Be a Rare Disease Adult With Stiff-Person Syndrome

I almost died at birth and had to wear metal leg braces and shoes for the first two years of my life in attempt to straighten my inward facing rigid legs and feet. Yes, everyone called them my “Forrest Gump legs” though I never could dance, move or run like him! My parents felt shame [...]
The writer laying in a hospital bed.

When a Doctor Turned My Health Into a Joke

 gas·light /ˈɡaslīt/ verb gerund or present participle: gaslighting    1. manipulate (someone) by psychological means into questioning their own sanity. Like most chronic illness fighters, my path to a diagnosis wasn’t an easy one. Actually, it’s more like a never-ending one, as science changes and new “clues” appear. Many us of, especially those with almost [...]
teacher helping a student in the library

To the Professor Determined to See Me Succeed Despite My Health Challenges

To the professor who is determined to help me succeed no matter what it takes: I sent you an email with my paper attached in case I found myself admitted to the hospital the day our big paper was due. You were aware I was struggling with my health and that a surgery was coming up [...]
An illustrated tin man with a wooden ax.

What It's Like Living With the 'Tin Man Syndrome'

As little kids, many of us were both scared and fascinated by the classic film “The Wizard of Oz.” One of the beloved characters from the film is the Tin Man. When we are first introduced to the Tin Man, he isn’t able to move around well. When Dorothy squirts oil on to his joints, [...]