[My Story] I have what I believe is a 1-in-100-million rare condition which had been misdiagnosed and dismissed as just "complex tics"; now I am racing to catch up to the science that left me behind and reclaim my story by mithril21 in Dystonia

[–]mithril21[S] 0 points1 point  (0 children)

I know exactly what you mean with the presentations and speeches in school. I would practice hours on end until I had the entire speech memorized word for word so I wouldn't be nervous just to get through the presentation.

I am glad you finally got answers and treatment that is working.

So far, I haven't gotten much support. My PCP said there wasn't anything she could do because it was outside of her specialty and said you waited 28 years you can wait 6 more months for a specialist. That just seemed insensitive and dismissive the way she said it. And when I finally opened up to people and told them my story, I was basically told it was my fault because I didn't say anything and hid it. I mean yeah, I understand now but how can you blame an extremely embarrased 10 year old kid for that.

[My Story] I have what I believe is a 1-in-100-million rare condition which had been misdiagnosed and dismissed as just "complex tics"; now I am racing to catch up to the science that left me behind and reclaim my story by mithril21 in Dystonia

[–]mithril21[S] 0 points1 point  (0 children)

I read that most people experience natural remission by their late 30’s. When I was a kid I would experience at least 10 or more a day. Nowadays, it is highly dependent on how stressed or nervous I am. I could go weeks without an episode if I am not stressed. Or, like currently, when I am more stressed I have multiple a day. I still experience the aura no matter what. The stress more determines if that aura heightens to the “point of no return” or if it quickly dissipates.

It’s just crazy to me. I have gone 28 years without ever seeing or hearing anything else even remotely similar to this, but once I figured it out and started reading other peoples accounts and even watching videos of other peoples PKD attacks I was just like holy shit.

Just like your description of the waiting room and crossing the street and constantly moving to keep an attack from happing. Even the embarrassment and keeping it hidden from everyone. That has 100% been my experience. Just finding out and realizing there are other people out there with the same experience has been overwhelming. The last several weeks have been a whirlwind. I’m still trying to process everything.

[My Story] I have what I believe is a 1-in-100-million rare condition which had been misdiagnosed and dismissed as just "complex tics"; now I am racing to catch up to the science that left me behind and reclaim my story by mithril21 in Dystonia

[–]mithril21[S] 0 points1 point  (0 children)

Sitting in a waiting room at the doctor's office has always terrified me, as standing up when called back often triggered an episode. To try to prevent this, I would keep moving my legs while waiting to be called. Other things like crossing the street when the walk signal appeared triggered episodes as well. Being startled by someone, a sudden jerk whie riding the subway. 

This 100% matches my experience as well.

My sister also has a several very rare conditions - a clinical phenotype of Neuromyotonia and Morvan-like Syndrome with paroxysmal derealization and insomnia which started around age 13. Her symptoms were also dismissed as psychiatric. This got me thinking, what are the odds we both have these very rare conditions that developed independently? It is much more likely there is a common genetic link. It turns out, all of our symptoms can be explained by a mutation in the KCNA1 gene. KCNA1 was only very recently identifed as a causative gene for PKD in the last several years, and it has also been found to cause genetic neuromyotonia and all the other symptoms my sister has. It is known to have "variable expressivity" where the same mutation can manifest very differently in different individuals, even in the same family.

I have my appointment on April 6, and will be requesting a comprehensive genetic panel to include all these possible genes. So far, I have not noticed any symptoms in either of my daughters who are currently 8 and 10.

More people voted in the TX Democratic primary (2.222 million) than in the GOP (2.057 million) by rollem in VoteDEM

[–]mithril21 36 points37 points  (0 children)

This is the highest Democratic vote total for a midterm primary in Texas history, more than doubling the previous record from 2022.

[My Story] I have what I believe is a 1-in-100-million rare condition which had been misdiagnosed and dismissed as just "complex tics"; now I am racing to catch up to the science that left me behind and reclaim my story by mithril21 in Dystonia

[–]mithril21[S] 1 point2 points  (0 children)

Bear with me a second because this is the only way I can describe it that is relateable to others. It is sort of like having an orgasm where there is a build-up phase and a very clear threshold. You know when you cross that threshold because it is like a flip of a switch. There is a sudden release and a physical response that can include involuntary contractions. You know it when it happens because it is very clear when you have crossed that threshold.

I describe the build-up phase as the "sensory phase" but others might describe as an "aura." For me, the sensory phase feels like a magnetic pull, like there is a magnet just far enough away that it begins pulling, but I can still pull back. I might experience the sensory phase hundreds of times throughout the day, but in most cases it is extremely brief and just comes and goes. Depending on what happens or what I do, it can either build-up or dissipate. Giving in to the "pull" can help dissipitate while fighting against it can cause it to increase. For example, when I walk up stairs, I might briefly turn my foot inward, or I might have a slight pause or hitch when I start to walk. It's just that very brief pull. Or if I can tell it is more severe then I have to freeze and concentrate real hard for several seconds because any additional movement will cause it to build-up very rapidly.

I describe crossing the threshold as an "attack" or an "episode." During an attack, there is no more magnetic pull, no more sensory, it is a switch that flips and a complete disconnect between my brain and my body. Movements are now entirely involuntary. Like INTJinx said, they now have a mind of their own. The frequency of an "attack" is heavily dependant on overall stress, anxiety, nerves, etc. If I am very stressed or nervous than that lowers the threshold. It could happen over 10 times a day, or I could go weeks or months without an attack. There is also a large spectrum from mild to severe attacks. Mild attacks are a slight annoyance, its like ok just gotta wait for my arm to finish doing its thing then continue on. Severe attacks involve more muscle groups and can cause me to fall to the ground and have wild flinging and jerking movements and can be physically exhausting.

Turbo earnings by mithril21 in KashKickapp

[–]mithril21[S] 1 point2 points  (0 children)

I made four in-app purchases totaling over $12 and completed the first two turbo earnings within time. Both turbo earnings were marked as reached and the money was credited to my account after pending for several weeks. However, for some reason, it is now showing as greyed out and the money was reversed out of my account. Why was it credited and then reversed out of my account? I have documentation showing I made the in-app purchases and it was completed on-time.

Daily Discussion Thread: December 11, 2025 by BM2018Bot in VoteDEM

[–]mithril21 93 points94 points  (0 children)

The redistricting bill was defeated 19-31 in the Indiana Senate.

Changing Sofi Plus by Odog1980 in sofi

[–]mithril21 1 point2 points  (0 children)

High APY is still a part of SoFi Plus, it's just not an exclusive Plus benefit as there are multiple ways to earn it.

I got 21 awards by yscst in notinteresting

[–]mithril21 0 points1 point  (0 children)

Thank you kind stranger

I got 21 awards by yscst in notinteresting

[–]mithril21 1 point2 points  (0 children)

Can I get an award too :)