Diagnosis

Published September 28, 2015 by dcsteiner

Throughout this entire process I was convinced that there was something else going on. I couldn’t come up with any ideas as to why my spine would be moving, but knew that the initial diagnosis of Idiopathic Scoliosis was incorrect.

A few weeks later one of my family members was visiting from out of state and informed my mother of the fact that autoimmune disorders and Marfan Syndrome run on my fathers side of my family. She made me a list of different things to get tested for, which I completed the next week.

I had told my PA of my concerns and she immediately did what is called an ANA test. ANA stands for Anti-nuclear antibody and tests your blood for multiple autoimmune disorders.

This test came back the same exact day around 10 pm, completely clear. So I checked that off of my list.

I had also told my PA that I had a family history of Marfan Syndrome. She knew enough about Marfans to tell me that I didn’t look like I had it but decided to send me to a cardiologist to make sure.

Two weeks ago I had my very first cardiologist appointment. My EKG came back normal, but my blood pressure was high for the first time in my life. This confused me but I wrote it off as just being nervous for my appointment. When the cardiologist came into the room, he brought a sheet of paper that explained the different things on the scale for diagnosing someone with Marfan Syndrome.

He then told me that you need 7 items on this scale to be diagnosed. After we went over everything on the paper, I had a confirmed diagnosis of Marfan Syndrome.

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