Warm Fuzzies and Science

I am still waiting patiently for the results from the 14 dystonia genes and mutations of those mutations.

I never wrote about our 2nd visit to the genetics counsellors (my neuro gave me the referral in case anyone wants to know how to get to them). I saved up $500 for my mom to get tested after our first time there. I figured if she had it, it would prove me too, because at the time I thought ONE gene (DYT5 – Dopa Responsive Dystonia) was $500 through Athena Labs and we couldn’t afford for us both to be tested.
Well…My mom went to her appointment, this was the second visit but this time just her, with the $500 in cash in hand.
Genetics counselling is not like a doctor appointment. Or, at least this place isn’t. It’s 2 hours of many questions and careful listening. It’s very serious and extremely caring. I guess I’m emphasizing “care”, like I said, it’s not like regular Dr. appointments. There is the main Dr. we see and the really crazy smart side-kick who kind of reminded me of a uber-scientist version of Velma from Scooby Doo with short hair.

My mom was sent away from that 2nd appointment. They said I needed to be tested because of some real technical stuff that includes both parents and I won’t try to explain that part. I was scheduled to come back and have my own 2nd appointment and blood draw and I went the end of last month.
Some things had occurred during the time my mom left and I came back, mama with me, too. They, the Counsellors, were so “taken” with the idea I saved up that cash for my mother…they did something really unexpected. They called labs all over the country and explained who we were and that I had this $500…A lab in California said they would test 14 genes for me for $561 instead of $2500-$3000. They wanted to help us.
When the Velma scientist was explaining this to me, she said,
“It was a true moment of grace that what you had saved was what they would offer…” I dont know if that is verbatim anymore, time passed, but I DO know the first 7 words are exactly what she said.
There were a lot of odd feelings discussing genes. Geeky excitement and a spiritual vagueness hovering around the room I can’t describe, only felt.
During our conversation, she could tell I liked hearing about how this whole procedure works. She, in turn, got her little “geek on” herself…She started talking faster, she started talking about genome testing. Thats where the regular DNA and RNA is tested. Whole genome sequencing could reveal many types of mutations, diseases, all kinds of stuff. However, scientists thought that only 3% of what they found was “worth” anything and 97% was sort of….trash. NOW…..they are dumpster diving.
Exome sequencing is the rage. TWENTY THOUSAND genes in the body, sequenced and looked at, the “trash” is where they are now finding the rare diseases, the previously hiding mutants being passed through family trees, randomly dropping bad apples along the way.
She and I both are totally hyper by this point, or at least as hyper as a scientist can get and me knowing about .00005% of what we were talking about. But I got the point.
I have now been looking at articles and different things I can find about “exome sequencing” …and it is fascinating.
As you all know, I think, I listen to podcasts at night to got to sleep and that one of my favorite shows is called Radiolab.
So, the other night I am listening to whatever topic they decide to explore in this weeks episode, and the episode was called Antibodies Part 1: CRISPR.
Yes….something that is mind blowing and has been around for decades! It is and will and could be exactly HOW we CURE these diseases we have. ALL of them. I was riveted. the thing about RadioLab is that they talk like we do. They don’t know what they are talking about, they just get excited and find cool people to explain it to us and in essence of the show, also to the two guys who narrate every time, Robert and Jad…. (These guys are HUGE…this show is huge….I want to be on Radiolab so bad I can’t stand it, but they have gotten too cool for the likes of me now…haha)
So….This episode….it made me think of the conversation I had about exome testing being “the thing”…and THEN, my mind went wild…because THIS is how we could all be saved.
God bless science and all the world.
Please listen when you are able and watch their website for PART 2 when it comes out!



“Pulling My Hair Out!”

The EXCRUCIATING wait for new prescription glasses….


Axon Optics- “Pulling My Hair Out!”

Somehow…. My blog entire post went here, so click on this link!


by Lori Raines, Founder of Neuronauts Dystonia Awareness and Advocacy Nonprofit Organization. To learn more about Dystonia, please visit their website here.

FL-41 glasses help blepharospasm and dystonia

I KNEW I needed prescription glasses…. Again! The “amazing” Lasik surgery I had in 2007, almost three years before I developed blepharospasm and the sudden onset of a neuromuscular disorder called dystonia, went completely down the drain.

I need to back up this story a bit though, I am about to get ahead of myself. As the symptoms of dystonia progressed, like the horrors of bright store lights on my nervous system, migraines from intense muscle spasms from my back to my neck to behind my eyeballs, and worse for me, computer glare, I needed some relief! I had started a support group on Facebook for all movement disorders called Neuronauts and quickly knew I couldn’t be on the computer as much as I was because my eyes were screaming at me for help! Red, puffy, scratchy, twitching, watering eyes and administering a growing group was awful…And then I saw Axon Optics on Facebook too.. My eyes were begging me to find out everything I could about this therapeutic “super tint” in the FL-41 Glasses.

Axon Optics review FL-41 Transition lenses

When the magical Axon Optics FL-41 Transition lenses with Anti-Glare Anti-Smudge coating glasses arrived, they never left my face. I wore them the second I opened my eyes until I had to close them. I loved them and everything I had read and had been answered was true! I told everyone who suffered from the same issues as I did and more. Then it happened. It seemed I went back to being blind as a bat overnight. As much as I loved my glasses, they didn’t help me see five feet away or farther. I couldn’t believe it.

I found way too strong prescription glasses from a thrift shop just to drive and see signs and not be a danger to society! They are awful and make my brain hurt. And my HAIR! I had to get to my eye doc quickly! My optometrist is three hours away from where I live now. I finally had my appointment last week. It was a long drive but found out it was true, I needed new glasses.

I saw THE frames there. I tried them on and they fit great, but they were $240! I can always find them at least half price online being savvy with Google and I did! Because I KNEW I only wanted Axon transition lenses and I knew about the “Send in Your Frame” option already, (I was going to use the ones I already have but these have more coverage for a prescription and are classic cat eye style and just…cool!) I am starting to feel super excited and smart. I sent in my script to Axon, I ordered the new frames off the internet, I’m making this thing happen and the thrift store glasses will be history! My eyes won’t HURT anymore! Feel the momentum?

Then….The email….Virginia at Axon Optics writes: “What’s your PD?” (Pupillary Distance)

FL-41 glasses can reduce blepharospasm symptoms

I said,”I don’t know. I’ll call my eye Dr. now!” Well, they don’t measure that UNLESS the frames are bought AT THEIR OFFICE. (The distance between both pupils is kind of important info for me since I had lazy eye as a baby and I am now almost banned from interstate driving, as my eyes close and cross and I’m never in an actual lane at times…I am happy Axon requires all measurements to proceed, they want them perfect and so do I.)

So THEN, I need a REFERRAL, to a NEW Dr. here, wait for a new patient appointment, JUST so I can have the “PD” measured and THEN I could get new glasses…

This whole process just went from 3 weeks to 2-3 months. I cried.

I thought why can’t I just hold a ruler on my face and take a picture and count.!..but it doesn’t work that way. I asked this question in the support group and one of the members sent me this picture of a ruler and said “Here!”.

Then…in my total disappointment, I had a smart moment! I called my eye office and asked, “What was my PD with my last pair of reading glasses I got a couple of years ago? (The PD doesn’t really change! ) She put me on hold and came back with the measurement I needed! In a split moment, the 3 weeks to 3 months went to 3 weeks again! I am waiting right now for the internet frames to arrive so I can send them in. It’s excruciating. I want to pull my hair out, but with bad glasses on top of my head half the time, it’s already happening.

I am SO CLOSE to HAPPY and having exactly what I need, want, match “my style” AND have the

Axon Optics FL-41 MAGIC back!