KCNJ12 (Screenshot of a gene mutation in my DNA)

 

One of many variants in my DNA

No one had uploaded research on ClinVar, but I had no problem finding it elsewhere. I've been talking genetics with the Periodic Paralysis support group off and on for many years, so it is a victory to finally see supporting evidence on screen. It's also not the only variant I have in an ion channel. I'll share more later.

In discussing this with the group, it looks like mine may be a rarer form. Mine is definitely familial, as my mom had the symptoms as well (she was fiercely anti-medical, refused care even when crippled, and died in 2014), and there were stories about her father (died in '81) and grandmother (long gone) having some unexplained episodes as well. I do not have the facial and distal extremity abnormalities (low ears, webbed toes) that are associated with Andersen Type 1, but I share a trait with my mom and someone in the support group who pointed out that we (confirmed by Dentists) have abnormally small mouths and troublesome jaws. There may or may not be any significance there.

(Side note: I experienced a dental nightmare this year that traumatized me and I haven't been able to blog about it. Maybe later.)

There are other types of Periodic Paralysis, including an Andersen type, that people in the group have who also do not present the visible abnormalities, so perhaps I'm one of them.

It's Familial Periodic Paralysis, whatever the case. I was diagnosed in 1998 and again in 2011. God knows I prove it daily; my life has been very difficult. And I've been researching and blogging about it (both publicly and privately) since 2001 (MY GOD, I just realized that's 20 years)! I also have other conditions, clinically confirmed, that are now supported by genetic results.

In a public post, I've invited my physicians, present and past, to friend-request me on Facebook to be added to the album where I am uploading more data, as well as dozens of reports generated by the lab. It will require a private message to get my attention, as my timeline settings are very tight, but feel free if this is an interest.

There are many variants in my DNA, and I am sure I've only scratched the surface, but I am pacing myself. Importantly, I am well aware that mutations don't automatically mean a diagnosis (I have a mutation for Epilepsy, for example, but thankfully no manifestation), so I would appreciate it if people would stop trying to mansplain explain this to me. Just leave me to it, thanks.

I meet with Internal Medicine in 2.5 weeks.

A long overdue update 9/2021

After a long and challenging treatment, my bro has recovered from nearly losing his foot. I'm happy and relieved that this didn't end badly. It was a busy, stressful time.

I have been feeling more unwell than usual for several reasons, but I'm thankful COVID hasn't been one of them. Things have gotten out of hand here, with full hospitals and people dying in the waiting rooms. My brother and I know people who've died, in fact, two of his friends died in the same week. We've both lost a lot of loved ones this year.

Our aunt died a couple of months ago. I don't know if I mentioned it. So we lost an aunt and an uncle this year.

I'm not ready to talk about the Bob Ross documentary yet. It's painful. I'll eventually speak on the matter.

Thanks to my amazing friends, I pursued whole genome testing, and I have confirmation of Periodic Paralysis with Long QT, Familial Episodic Pain Syndrome, and a very long list of other conditions. I will eventually share all of that here. It is going to take a long time to comb through that amount of data. I'm already posting info on Facebook, if you happen to be on there and interested. I wish I could tell my former doctors in Jackson about this, but they've moved on, and I must do the same. I will see my primary physician next month. He has no idea the amount of info he'll be bombarded with, poor man.

I've started painting vases and candle holders during times that I am feeling strong enough. The results have exceeded my expectations, and I look forward to selling and gifting a few of them during the holidays. I'll share photos here soon, but the pics are already on most of my social media accounts.

I am having bad episodes. I'm trying to figure out what to do about it, including alter my diet again while somehow maintain my other conditions. This is so hard. I'm tired.

A while back, a car hit mine (the one I drive, I don't own it) and kept right on going. No way to get their info in a sea of other vehicles on a busy boulevard, so their hit and run was a success. I'm fine, and so is the car. It will receive some TLC next month, when I have some money.

I have absolutely no money this month. I had to pay off a bill, so I'm sitting at home on the couch for the next 12 days. Thankfully, I do have groceries. Fuel, not so much.

I'm still involved in all things Pokemon, and don't plan to stop most of it. I won't play the card game in person ever again, I don't think, so I'll eventually find a new home for those cards. But otherwise, I'm still involved with several games and the anime. I'm surprised I haven't blogged about it this year, but Twitter is simply a faster outlet for such things. I reopened my Tumblr and Pinterest as well. All of the above are @ ugottafriend.

Someday, I'll reopen the medical blog. I just don't feel like dealing with it right now, but I know I need to continue bringing awareness, especially now that I have genetics to back me up.

My bro adopted a new Chihuahua, and she is the biggest diva. Ha! We call her the Queen, and refer to her as Your Majesty. Spoiled so rotten, it's not even funny. She's a really sweet dog, and absolutely deserves it. Her real name is Gypsy, given to her by the rescue org she came from. I'm allergic, but I try to be a good auntie. She adores me, and sometimes prefers me, so I do my best when I visit.

I still live in my apartment, alone. Other than the disruptions that occur sometimes, it's acceptable. My next door neighbor almost died from COVID. She was in the hospital over a month, and came home on oxygen and a walker. She's the one whose husband died less than a year ago, so she's really been through hell since she moved in here.

Hopefully, life will improve for us all again someday.

Be safe everyone.

Hurricane Ida Relief

Yes, yes, I know. I'm terrible.

Louisiana is going to need assistance for a long time. Here's how you can help:

Cajun Navy Relief - cajunnavy-forms.nogginoca.com/donate.html

All Hands and Hearts - allhandsandhearts.org 

Project HOPE - projecthope.org

World Central Kitchen - wck.org

Direct Relief - directrelief.org

I know how hard it is to move forward after your life and livelihood have been wrecked. My heart goes out to them. I'm too sick and poor to do anything but share info these days, but I do what I can when I can. We did have the storm here as well, but to a very small degree in comparison. My brother and I lost power for about 5 hours, but were otherwise fine.

Thanks for all you do to help those in need.