I am 54 years old. Last week I just got the diagnosis that I was begging, even crying out to find. Ehlers-Danlos syndrome.
Sounds like a complicated name. Of course, telling your family for the first time is like, “You’ve got a problem with your ear? – no dad, E-H-L-E-R-S, not EAR!” What the heck is that? Exactly…
For years I have searched and searched for a diagnosis that would explain my issues from the age of 10 till now. I’ve seen over fifteen specialists, have had fifteen surgeries, and have had two doctors mention the dreaded word…HYPOCHONDRIAC, with a prescription for Prozac.
Now, as a medical professional, I could combat the notion that it was “all in my head” because I knew better. MRI images and scientific knowledge backed up every surgery I had, but I also got the dreaded, “Hmm, we are not sure why after your breast cancer surgery, that your implants are falling and failing.”
“We are not sure why your lungs continue to collapse. Are you sure you don’t smoke?”
“I am not sure why your pelvic organs are collapsing!”
To tell someone of uncertainty or to imply it is all in their head, is damaging. Tell that to the many people suffering that don’t have a medical background! It was only by divine power that I received my diagnosis. A patient had happened in my chair, and we were talking. Now, I have to go back because earlier that morning, I cried out, “I cannot take this anymore!”
I was at the end of my rope, tired of the pain, tired of trying to figure out my own diagnosis, trying to explain to family and co-workers, why depression and anxiety, and fatigue would enter my world one minute and then the next be fine. However as we sat there, my patient started telling me about Mast Cell Activation Syndrome and that she had some autosomal issues and as she started sharing, I said, yes, yes, yes, I have many of the things that you are talking about. She asked if I could bend my thumbs back, and hyperextend my arms. She looked at me and said, “Let me get you to my doctor!”
That day I made the appointment. I went and saw my doctor, a board-certified rheumatologist who spent six hours and came up with a diagnosis. Fifteen vials of blood, Beighton scores and stretching in strange ways, the whole nine yards. Now, not only did she come up with a diagnosis for me but it changed the trajectory for my family. I now see throughout my childhood why my lungs collapsed, why surgeries failed, why tears and bruises and crutches were always a part of my life and why my mother’s side of the family went through the very same thing. I was the weird kid who would pose in certain ways. As a competitive gymnast, I would end my routine with my final pose and points would be taken off simply because of my arms hyperextending.
BUT, I now had an answer! And when I got that answer I cried for days. Tears of joy that I could finally wrap my head around the mysterious pieces of the puzzle that I simply could not put together no matter how much I looked on Web MD. I must have listed my symptoms there 500 times. I could also confidently face the medical community, the one I am a part of, and inform them to please look outside of the box, to storyboard someone’s life, to look at the entire picture, and to hear what your patient is saying.
It has made me a better clinician, it opened my eyes to the pitfalls and loopholes that trap a patient into the unknown. I’m so grateful that I screamed out that day, that I just needed help. I needed an answer. The cool thing about the answer was that a patient had come in and she was complaining about many things that were happening to her. I had researched the heck out of EDS and many of the other rare disorders. As she was explaining some things, I asked her if she had heard of Marfan syndrome. Now, I was not about to diagnose her with this, but everything she said seemed to align itself with EDS.
I passed her information on to my doctor and now have her seeing a specialist for her and her daughter’s condition. Knowledge is the gift that keeps giving, but before we can spread the truth we have to know what it is! I am so grateful that at 54, I was able to be given that diagnosis, though it took 30 years.