By Kylee S.
This story is about me and my long journey to a diagnosis. Although I might have had mild symptoms as a child, it was nothing noticeable. My symptoms began in my early 20s with some uncontrolled movement that affected my legs and arms. I began seeking treatment with my local ER, general practitioner, and neurologists. This diagnostic journey is the worst part of the whole experience and is the reason I am sharing my story.
My diagnosis took about 21 years.
My first onset of symptoms lasted over seven months and got progressively worse as time passed. I went to a neurologist who concluded my increased trouble with walking was due to depression. He determined that I was depressed because I didn’t have a husband, boyfriend, children, or pet. I’d recently moved to the community and was in my early 20s so, to me, that seemed normal. I wasn’t distraught about my lack of those relationships.
I next made an appointment with a doctor in a neuroscience office, but I didn’t know really who I needed to see. He felt that I had dystonia but wasn’t the right type of doctor to diagnose it and encouraged me to see a different neurologist.
Next, I went to a neurologist in a bigger city. He had a pretty good reputation, so I was excited to get his input. He told me there was nothing wrong with me and suggested that, evidently, I “needed a lot of attention.” At this point I needed a cane to walk.
My General Practitioner asked if I would be willing to go to the Mayo Clinic, which I was. I made arrangements for two weeks of testing. I specifically asked about checking into dystonia. At the end of the testing, they told me there was nothing wrong with me in neurology and invited me back for psychiatric testing.
I went home and made appointments with alternative medicine doctors. I found a chiropractor who diagnosed me with a calcium deficiency and sold me expensive vitamins. I thought they helped, and he must be right because I was feeling better a little at a time.
For the next 20 years, I was almost afraid to go to the doctor unless I was desperate. I would have small episodes of not being able to walk well after being active. I would take some calcium and rest and it would go away. I probably should have been seeking out help from other specialists, but I didn’t need anyone else to tell me I needed psychiatric help.
In April 2022, I began having symptoms again, but this time they were worse and would not relent. I tried calcium supplements, but they didn’t help. I went to an endocrinologist because I had been diagnosed with thyroid issues within those 20 years, so we decided to start there. The endocrinologist spent five minutes with me, ordered a few blood tests, and assured me that whatever was happening couldn’t be explained with endocrinology.
Against my better judgment, I considered seeing a neurologist again. I did research this time and learned about the existence of movement disorder specialists. I made it my mission to get an appointment with one of those doctors as soon as possible. I had to get a referral from neurology, so I found a hospital in another state that had neurologists and movement disorder specialists.
In March of 2023, I had to endure MRI’s, EMGs, and test-out medications but finally, I had a diagnosis: dopa-responsive dystonia with parkinsonism.
Now, as long as I keep up with my medications and be a little careful about overdoing it, I can have a mostly normal life. I have to make sure I set alarms to take my meds on time and carry a chair backpack or portable stool when I am walking long distances for festivals or hiking. I don’t need the cane anymore, or at least not unless I really overdo it.
I decided to share my story because I want others to know there may still be answers for you, even if others have indicated you are making it up. Keep searching for the right specialists. Do your own research. Advocate for yourself! Be brave and bold! Don’t accept ridiculous answers! Most of all, don’t give up.
