What Life With Rare Disease Really Looks Like

What rare disease really looks like:

An endless array of medical tests, all of which come back “normal” or “inconclusive.”

Carrying armfuls of documentation to every appointment to “prove” you’ve already had the tests done, already had certain conditions ruled out, already tried the standard remedies.

Years’-long searches for a diagnosis, which may or may never come.

Pre-prepared packets of information about your rare illness – assuming you’ve secured a diagnosis – to present to your doctors so they can research what you already know and “get back to you.”

That all-too-familiar fear in your gut as you sit in the waiting area of a new doctor’s office. Will this doctor actually believe you, or will he write you off like the last one? Will this doctor be kind, or will he scoff at you and say “It’s all in your head?” And even if he does believe, will he be able to offer help?

Debts of thousands upon thousands of dollars for drugs and treatments that may or may not help at all.


Seeing dozens of specialists. If you’re lucky, these specialists will try to work together. If not, balancing the different doctors’ orders is entirely up to you.

Sleepless nights from insomnia, pain, panic or some other symptom. But when the morning comes, your situation is no better, because you have to get up and greet a day that could bring any number of terrifying symptoms.

Bottles and bottles of prescription medications, some of them now necessary for survival, some of them just evidence of the rabbit holes you’ve gone down that just lead to dead ends.

Judgment on the faces of strangers (and, more heartbreakingly, sometimes on the faces of family/friends) when you venture from your home. They see your handicap placard, and, unless you’re in a wheelchair or assisted by some other very visible device, they often judge you. Some will even have the audacity to say hurtful things: “You don’t look sick to me.”

Crying, often at what would be considered “inappropriate” times, because you are unable to do what you once could or what others can do with ease.

Seeing a therapist in an attempt to mentally cope with what you are physically experiencing.

Emails or phone calls from well-meaning family and friends, offering diagnoses they saw on television or “cures” they read online. Regardless of the source, your rare disease will definitely be cured if you try this new berry they found in Botswana that only grows in August…

That one guy who insists you “just haven’t been praying hard enough.”

Shying away from pictures that show a time when you felt better.

Avoiding mirrors because you don’t recognize yourself in the reflection they show.

Developing social anxiety because you fear the disappointment of friends and family when you announce you have to cancel. Again.


Rare disease looks like me.

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Thinkstock photo via kotoffei.

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