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When Your Rare Disease Experience Is Finally Recognized and Validated

I’ve spent a lot of my life in medical offices. I’ve seen more doctors than I can count between me, my husband and my children. There seem to be two main types. The first are doctors who can’t see anything wrong on your tests, x-rays or MRIs, so then they conclude there isn’t anything wrong. Or they are baffled and instead of saying they don’t know and sending you off with a referral, they tell you there isn’t anything wrong or minimize your symptoms. I remember one emergency room visit prior to my celiac diagnosis when I was having neurological symptoms. The ER doctor said, “well maybe you just have a touch of the flu,” and sent me home.

It is a mistake to believe we fully understand medical science. We have made enormous strides this last century for sure. But to assume that tests show us everything that could be wrong, and if you have negative testing than you have nothing wrong, is flawed thinking. Just because you can’t put a label on it doesn’t mean it doesn’t exist.

Doctors who understand this are the second type. These are the doctors who sit down and listen to you. The ones who understand that what you are experiencing is real even if they can’t see the why. The ones who advocate for you and try to help you find solutions. The ones who validate your pain with their compassion.

When you are living with rare diseases that doctors haven’t heard of, or if you have experienced rare side effects to medications, it is so important to be validated. Our experience is often made up of people who think we are exaggerating our symptoms or who flat out don’t believe us at all. I remember taking my son to one allergist for his eosinophilic esophagitis. The doctor looked at me after I explained how he would go on long feeding strikes where he would barely eat anything (no solids and only 10-15 ounces of formula a day). His response was, “Yeah, but it isn’t a deadly disease. You shouldn’t make such a big deal about it.” I was floored. Obviously my child has to be in a significant amount of pain or discomfort to not eat for multiple days in a row. No, he isn’t in anaphylactic shock — but what he experiences is real and severe and should be taken seriously.

So many experiences like this one have caused me to think the gastrointestinal issues and pain I’ve struggled with for years is mostly in my head. These experiences have made me question the way I feel and have prevented me from seeking help. The lack of validation has made me feel like the medical community isn’t a safe place for me to seek help for my medical issues.

I recently went to see a new specialist to be evaluated to see if I have Ehlers-Danlos syndrome. I think he could tell I was bracing myself for the typical response I get from doctors, because without any prompting he said, “I want you to know that what you are experiencing is real.” After a lifetime of hearing exactly the opposite from medical professionals, I almost broke down in tears. Instead of leaving the appointment with self doubt and anxiety, I left with a renewed sense of confidence and strength. It has given me the courage to keep on looking for answers when I had all but given up.

Validation is equally important from those friends and families close to us. It is so easy to brush off someone else’s experience. Nothing is more hurtful than a family member who belittles your pain, and nothing is more compassionate than one who decides to take you at your word and offer their support.

Invisible and rare illnesses can be hard to believe — but they are real. Our experiences are real. When you belittle us by not believing our experience, it hurts us. There have been times when I refuse to talk about it because I don’t want to be hurt by friends and family who aren’t willing to accept what I’ve experienced as real, or who question the answers I’ve finally found from the medical community.

When you decide to take us at our word and listen to our struggles with an open mind, it makes all of the difference. It is helpful to know there are people we can talk to on a bad day who will listen and offer support. Our path can be a lonely one, and having a friend who can walk with us for a bit gives us added hope, courage and strength.

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