I've felt exhausted just sitting down to write this. I’ve opened and closed this post so many times just trying to find the right words.
I know it's been years since I've posted.
Truthfully it's because I had one doctor's appointment that shamed me into internalizing everything and left me trying to move on with my life like none of this had ever happened.
I had a nerve conduction study/EMG done years ago, and this neurologist looked me in my eye and told me that it was normal. That it was dysautonomia acting up and that I needed to figure out what symptoms I could live with because none of this was progressive or would hurt me. And the shame, the embarrassment, was so overwhelming that I finally just shut down and stopped fighting. I stopped going to specialists, and I just told myself to live like this.
It worked in its own way until I had a kid. And then my kid got sick, too.
Long story short, I took us to a renown genetics research clinic, and finally at last we have an answer. And I have so, so many feelings about it.
When the geneticist first told me that they were looking at this variant as one of interest, I went through my old testing records to help them rule it out because I had an NCV/EMG done years ago and was told it was normal.
When I finally got access to my chart and looked at the results, it wasn't. The neurologist had lied to me- my EMG showed evidence of the exact illness this variant causes and he had caught it in 2017, then lied to my face.
The worst part is that it IS a progressive illness. It CAN hurt me. There are serious, life-threatening complications that can stem from this that require close monitoring.
Now that my doctors know what they’re looking for, and can target my testing better, everything is coming back abnormal. I need much closer monitoring and it’s been so overwhelming trying to take care of both myself and my kid.
I want to be angry at all the doctors who misdiagnosed me. Who saw a young woman and tried so hard to shove me in boxes that really didn’t fit. But truthfully this specific variant was first discovered in my family, in a hotspot of similar disease causing variants, and the illness it causes is so rare they don’t have a population occurrence rate for it.
I AM angry at the neurologist who caught this on an EMG and made the decision to lie to me, for whatever reason. He shamed me out of seeking medical care for years. He prevented me from getting proper medical care and that lack of knowledge led to a terrifying two years of seeking answers for my child. I don’t know if I can ever forgive that.
I forgot how lonely it was to walk this road. It feels like everyone has their own things going on and I had always used this blog as a space to scream into the void.
So, after many years, this is my jumbled way of trying to let it out a bit without filtering it for anyone else.
There’s just a lot of grief and anger right now and not a lot of words that do those feelings justice at the moment.
annaxmalina
baratheonpilled
turnnoffyourmind
dededos
ellievsbear
discoholicmusic
jbbartram-illu
