Back in the 70s and 80s unless something was falling off or broken, kids did not see the doctor. My parents adhered to this philosophy. My body was always different. Cartwheels were an impossibility when your wrists do not bend. But I was alive, breathing, and nothing was falling off. No need to investigate further.

When I reached early adulthood, my hearing deteriorated to the point where it was noticeable. My college roommate put it bluntly. You are deaf. Get your hearing checked. She was right. That was the beginning of my odyssey to find out what was wrong.

For many years, I had a diagnosis of psychosomatic disorder with chronic fatigue syndrome. I cannot tell you how many times I dismissed what my body was telling me simply because it was “all in my head.” Fortunately, my primary care physician took me seriously anyways. He and I have been on this journey together since 1997.

When the tendons in my hands and arms needed surgical interventions over and over in order for me to function at work, other doctors started listening. It took another 8 years with many tears of frustration before I finally was diagnosed in October of 2020.
One statement I heard over and over from various people, medical and non-medical, was “why get a diagnosis. It won’t change the outcome anyways. What does it matter.”

I want to tell you today how my life has changed.

When I go to the doctor now with a complaint, there is no dismissiveness. There is no you are fine. Stop bothering me. The doctors take me seriously. While most of the time no easy answers are forthcoming, I am heard and validated. This is HUGE!

I have a community of people who share similar struggles to mine. I don’t have to explain to you that my body is stiff. That I have struggles with almost every organ system. You know. We can share our experiences together.

Through those shared experiences, we can make a difference. The power of our voices combining can help the doctors determine what is related or not related to Myhre’s. We have a voice!

Because I have a named diagnosis, I can advocate and get involved to make changes. I do not have to passively wait to see what is going to fall apart next. I can fight. Without that one piece of the puzzle, I am fighting an invisible enemy. Now it has a name.

To the naysayers who say why bother with finding a diagnosis, I say my whole life changed. No. I don’t have any new magical cures or treatments. I don’t have many answers. But I have a community behind me, doctors who listen, and a chance to make a difference. That is so much more than I had before starting this odyssey. Together, we are strong!