“WHAT?!?” – A Series of Surreal, Funny and Real Moments when Dystonia Awareness Would Have Been NICE.

The main point of my blog here is to highlight the weirdness of my own life. I find it to be a never ending day with me scratching my own head, thinking, “WHAT?!?” I am using my blog this month to highlight what other people can’t wrap their minds around.

When it comes to dystonia, it turns out that I am not the only one left, almost daily, with an ultimately dumbfounded realization that dystonia awareness just doesn’t exist like it should. Not “my SHOULD”, the real world “SHOULD”. This is the second year that the dystonia community and our supporters have petitioned the United States government for an official declaration to Make September National Dystonia Awareness Month. This petition requires 100,000 signatures in 30 days. We have 7 days left and just over 10,000 signatures. Over 500,000 people in the United States alone have some form of dystonia. It is no longer “rare”. It is the THIRD most common neuromuscular movement disorder behind Essential Tremor and Parkinson’s Disease. I will NOT bet anyone my HUGE disability check for a month that if you ask your closest gas station attendant if they have heard of Parkinson’s Disease, they will say, “Sure” or “Yeah” or nod affirmatively. I WILL bet my HUGE disability check for a month that if you ask that same person if they know what dystonia is, they will get a deer in the headlights look or some sort of zombie face and be afraid to say, “uhhhh, no?”.

Whether it is the general public, people in positions of help we count on, or our friends, more hurtfully our families (we have to “work” at making that not hurtful) not having an understanding or at LEAST knowing the word, (I want to petition for a name change as well. “Dystonia” is far from catchy…however it is stuck in our heads, literally…I’m digressing. It is “mybloggorhea”, after all. Tangents should be expected by now) the BIGGEST issue as many of us see it, is that the medical community is very, very unaware….and THAT needs to change very, very fast. It does not seem to matter if someone famous has dystonia and puts a link on their website, although appreciated…it’s the normal guy next door who cannot get a proper diagnosis for months or years, or their child goes from “specialist” to “specialist” or someone just sits at home alone in physical and mental pain, not knowing where or how to find help for this debilitating disorder.

My last pathetic blog post was a very hasty call to anyone who follows my blog to PLEASE sign the petition and hear the amazing video produced by an awesome guy I just met named Navpreet. It comes on automatically, so I’m letting you know so it doesn’t scare you AND so you will LISTEN!  (If I could have written recently, you’d know ALL the reasons why it was pathetic…) SO, while I have made links and am AGAIN asking you to sign the petition NOW if you haven’t…here’s one more thing: ask 10 other people to do it too. JUST 10! It takes 26 seconds. I WANT to bet my HUGE disability check that you will get 10 other people to sign it. Hear the doubt? SAD, isn’t it? I don’t want to have ANY doubt!

Most of you know I am the Admin of Neuronauts, a support group for people with neuromuscular disorders. I had just had “one of those days” – you know, hectic, crazy, totally overwhelming and probably made my collarbone point to the sun (in the day, of course….) and I sat down, opened the computer to check in and a “chronic poster”, good friend AND the Secretary of the Dystonia Awareness nonprofit organization, Neuronauts Now….had just written the first post below….I laughed and knew right away I wanted to ask everyone for their craziest, wackiest, funny, bizarre, WHAT?!? story so I could put a collection together portraying the oblivious world we function in everyday. This was in June…WELL….Somehow, funny and wacky (there are still some pretty hilarious moments here) was eclipsed by what our biggest issue is….not being heard or understood by our doctors. THAT is what came to many minds before anything else. I want to show real people this, to HEAR us, what our need for “awareness” really is…and NO, it ISN’T just ME talking this time!

Here are the stories sent to me, when I asked for the moment when all they could do was just stop and think, WHAT?!?

“I left my sister’s class reunion Saturday night because my head started shaking too bad. One of her classmates asked what was wrong. Sister explained Dystonia and that I get Botox injections but they aren’t 100% effective. Classmate said that she gets “hair Botox”. Huh? So, I looked it up and it is a marketing term for a humectant treatment and it doesn’t contain Botox at all. It is sold in vials with syringes for application. Ummm, thanks for understanding and glad you can relate! WHAT?!?” – C.F.

“After I could no longer work, go to school, take care of my toddlers by myself, and had to move away from the central coast of California my father told me that I was only sick when it was convenient for me. My case has been referred to one of the top neurological teams in California at UCLA. It must be because I’m so good at faking this horrible disorder. WHAT?!?” – A.A.

“My mother-in-law was asking me how I was feeling because I have been having a lot of “storms” ( A word dystonia sufferer’s use to describe a sudden acute attack, sometimes resulting in going to the emergency room) recently. At the time I was speaking with her, I was having tremors in my hand. She said to me that she must have what I have. She stretched her arm out in front of me so I could look at her hand. “It shakes too!”, she says. Yes…you definitely have what I have because your hand “shakes”. I am glad you can understand what I go through when I have my painful storms because your hand “shakes” 😉 and I’m glad I’m contagious. But sadly enough, this isn’t the only person who has said this to me. WHAT?!?” – C. H.

“I went to a neurologist with my head down to my shoulder and a droopy face. He took xrays and an MRI. He brought me into the office and said, “Everything came back normal. There’s nothing wrong with you. You should hold your head straighter and your face will fix itself. If it doesn’t fix right away, don’t worry it’s probably just a virus and it will go away in a few weeks.”
Funny… it’s 4 years later and I still have that damn virus! WHAT?!?” – M.K.

“At an IEP meeting for our son, to discuss him returning back to school (he was on home hospital schooling) the school nurse said it was probably best for him to return when he had better control. Both of us couldn’t believe she said that, like he had diabetes or something he could actually control. We were so shocked. This came from the lady who is supposed to help take care of our son while he is at school. WHAT?!?”  – J.C.

“Come to my essential oils class I have a healing for your tremors”. “WHAT”? No, I thank you so much but your essential oils class is not going to heal my dystonia. Or “You just need to relax, your fine.” WHAT?!? You don’t know what dystonia is? Jacked up CNS (central nervous system) – look it up if you really care and are my friend. Chronic is chronic, gluten free, paleo diet, oils, and acupuncture may help but they will not take it away. Sometimes I lose patience being the educator on my condition which is responded to sometimes with skepticism. I just want a f*@king hug – its called comfort.” – A.S.

“Shortly after my husband died, while visiting my dad and his wife, we were talking about Earle and some of the “situations ” that had sometimes resulted from unexpected spasms, movements, etc. My dad had the ability to yell at Earle if a spasm had just started and many times it would kind of shock him out of certain types of movement. My dad’s wife, who had known Earle for about 8 years said,”You know, I looked up dystonia and that’s a real disease. I thought he was always faking it.” WHAT?!? – D.W.

“The most upsetting responses I’ve had to sharing with others that I have Cervical Dystonia, is that in a few instances, people have clearly been trying to hide a smile. WHAT?!? They can see my head is shaking – how on earth could they find this funny? I say very little about having dystonia to others, and will give a few words of explanation only when my head is very bad, and I’m especially self-conscious about it. This reaction has made me more cautious still.”  – J.F.

“Well, for the most part, people have looked confused and asked me about it so that they could better understand it (dystonia). The only trouble I had was my mum. She kept thinking that MORE EXERCISE would help. Um, NO!!! Exercise triggers mine (symptoms) like mad. Took me 6 months of flipping out on her for never listening to what I was telling her before she finally asked me, “Why do you always get mad and flip out?” Like, SERIOUSLY?! “Um, how about because you’re not LISTENING to what I’m telling you?!?”
I’ve had someone tell me that acupuncture will cure me. I’ve had someone tell me that exercise and a balanced diet will cure me. But for the most part, everyone else has been really supportive. When the weather gets bad, I get a few texts checking up on me, which usually brings me to happy tears.
Funny story though: I have the no-no CD (cervical dystonia) tremor (in which case the head shakes side to side) and was waiting for the bus early on in my diagnosis, so well before the Levocarb. (Carbidopa/Levodopa, a dopamine agonist for Dopa Responsive Dystonia – DRD) So, there I am, standing at the bus stop, waiting, head shaking back n forth. Oh, here comes the bus! I get my bus pass ready to board.
I look up, driver looking at me as she approaches, points to steering wheel and shakes her head, mouthing “No?” And goes to continue on without stopping. I throw my hand up to signal her to stop. Poor driver felt so bad when she realised I couldn’t stop the tremors!
Another story. Waiting for the out of town bus driver to come back from bathroom break with my neck tremoring, she approaches, looks at me and asks, “Do you have a problem?!”, in a real snotty tone. I looked straight at her and said, “Yeah, it’s a neuromuscular disorder that causes uncontrollable tremors and contractures. Do YOU have a problem??” WHAT?!? She looked like she wished she could crawl under the bus while it was in DRIVE!” – T.G.

“Before I was diagnosed with dystonia, or even knew what dystonia was….I went to a neurologist at a local health center. I told him that my neck that was pulling to the left, I was in pain, and my head was beginning to shake. He examined me, and then laughed and said “You shake like an old person!” WHAT?!? I was only
40 years old at the time! I was mis-diagnosed by this uninformed and insensitive neurologist. I left his office and had a good cry in the parking lot. Soon after this humiliating experience, I met a woman at work. She told me
that she noticed my symptoms and thought I had Dystonia, as she also had dystonia. She explained what dystonia was and gave me the name of her Dr. at the USC Movement Disorder Clinic. I made an appointment with this Dr. (neurologist)
and was diagnosed with dystonia (specifically spasmodic torticollis – cervical dystonia) the same day. What a blessing this woman was!
The lesson I learned is to tell others about my dystonia, I might help someone who is suffering. x” – L.R.

“I have Meige’s Syndrome. (A form of dystonia which affects the eye, face and mouth muscles) An oral surgeon here told me, “There is nothing we can do for you. Go to a sporting goods store and buy a football mouth guard to protect your tongue.” WHAT?!? – J.G.

“I swear I’ve FINALLY heard the dumbest thing EVER today.
I’ve been waiting 3 days for a new prescription. I called the pharmacist a couple of hours ago and he said, “Oh yeah, we got that fax from your neurologist three days ago but we don’t have the drug. Do you want me to call around to find it ?”
HE asked ME that! Isn’t that their JOB?? WHAT?!?
I can’t even write what went through my head as I sit here hurting in dopamine needing limbo. It’s filled with lots of dirty words.” – L.R.

“While talking to my neurologist after diagnosing myself with Dopa Responsive Dystonia a year and half ago, then Hashimoto’s Disease a few months ago because my stomach got huge, I went through a wild researching spree to write about neurotransmitters involved in movement disorders and autoimmune diseases and he declares without hesitation, “I don’t remember what the neurotransmitters do.” WHAT?!? You HAVE to! He just laughed.” – L.R.

“While applying for Disability, I was turned down the first time because I filled out all the forms myself. They sent a letter back saying that if I could fill out the forms, I could be a secretary. WHAT?!? The second time, they said, “Since you got dystonia in a day, maybe it’ll go away in a day.” WHAT?!? It doesn’t GO AWAY…I had what is called sudden rapid onset, my generalized dystonia started on one day and I never worked again. The THIRD time, the judge said, “I have no idea what dystonia is, but you have 2″ of Dr. notes, so it must be something!” Three WHAT’S?!? – L.R.

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To everyone who sent in their “WHAT?!?” stories. Thank you!

The last three were mine, I have SO many, I wouldn’t even know where to start. I think I have heard some of the absolutely most crazy and insane things I have EVER heard since I “got” dystonia in 2009. When I asked for these stories in June, I thought it would be easy and funny to have the public read how ridiculous some of our experiences are. What I “got” were little snippets of WHY we NEED dystonia awareness. Some stories were too long and too sad and complicated for this blog post. Too many of us have been diagnosed with psychiatric “issues” instead of dystonia. When dystonia doesn’t “look” like what whatever it is that doctors think it looks like, true treatment doesn’t happen and many lives suffer.

September has been declared Dystonia Awareness Month, but the dystonia community wants it to be OFFICIAL. To them, to be officially recognized by the government with a “real” month symbolizes a victory. A victory where we got the signatures ourselves with HARD work. We deserve it. Instead, NO National Network TV interviews, no big media events, just US, again, and unless everyone who has signed, gets 10 more people to sign in 7 days, we will no doubt have to try again… BUT it’ll have to be a very different game plan.

For me, what I want…is for the oblivion to dissolve. No more self diagnosing. No more moments of WEIRD. No more dystonia “WHAT?!?” stories. THAT will be the real victory. 

The Results of the Warm Fuzzies

“I know you don’t want to hear this…”
Genetics Counselor Carrie starts it off like that… knowing I am the type who would rather have 50 genes mutated and destroyed than tell me I tested negative for DRD or (DYT5) and 13 other dystonia gene mutations.
Genetics people, scientists and researchers are SO different to talk to than doctors.
She said over and over that they firmly believe my mother and I have a form of Dopa Responsive Dystonia but they just don’t have enough genes and markers to do the testing yet. She reminded me that genetic testing for dystonia only became available at all in the last decade and that there are 50-75 genes they “sort of” know exist for dystonia but a test of 14 is just not accurate enough for specific mutations.
She wanted me to know it doesn’t change my diagnosis, it doesn’t change anything. She “blamed” science and difficulty of the process,
and she apologized to ME… I told her that Drs do not think like scientists or geneticists, they really don’t think all that much other than their own SUBjective opinions and the fact they must put something on paper.
I told her a negative test would immediately be “judged and sentenced” before knowing genetic testing is barely 40% accurate.
She said for us to keep in touch every 3 YEARS when they may have some new genes to test and to always keep track of trials where scientists are trying to locate new dystonia genes, that my mom and I are perfect candidates.
I have no doubt my mother and I have genetic dystonia.
Her dystonia made a big appearance in the hospital because of her broken leg and finally got it in her records to be treated for dystonia properly too.
I am not telling anyone yet.
Ok. I just told an entire group of people, but I’m not telling my neurologist yet. I have to think about all this a little longer. She is mailing the results just to me.
Carrie said she would be happy to write a letter to my neurologist letting him know this in NO way changes my diagnosis, treatment, medications for DRD, etc., and I really appreciated that offer.
I don’t need an “I told you so” or ANY even HINT of that thought or I might be sued and taken to a prison for angry semi-blind female patients with dystonia, wearing a sling, on and off twisted legs, giant traps and a giant belly if I eat a bean or onion because no one can figure out what to do with my shoulder, eyeballs,
poop and other body parts and problems that can most assuredly lead to insanity.
I studied too hard and have way too much “evidence” accrued to believe that this FIRST test is the end all final anything or that I don’t have dystonia. I sure damn do and it sucks like no one’s business.
We may be DYT46 … When that is available to be found…
I know I’m a mutated number… Somewhere in our DNA/RNA/protein/hormone (epi)genetic soup bodies.
Sigh.
Time to take my meds.
I’m upset but not as much as I thought I’d be.
I still know in all my brain and heart we suffer from one of the most complex disorders of many and one day science will catch up to our daily lives. Science isn’t dumb, it’s not even about how much money they have for research. It’s just BIG, COMPLEX and the variables are too many for this part in our lifetime.
At one point the earth was flat.

(Actually, NOW there’s a whole new theory on this…I won’t go there this post. It messes up my last line….)
Things change.

Fantasy map of a flat earth --- Image by © Antar Dayal/Illustration Works/Corbis

Fantasy map of a flat earth — Image by © Antar Dayal/Illustration Works/Corbis

Read this! …..     www.whatisepigenetics.com

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.
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!

http://www.radiolab.org/story/antibodies-part-1-crispr/

The 3 Weeks I Couldn’t Write – An In Between Post

This is an in-between post. In between my last blog post and the one I have been working on for 3 weeks in my head and haven’t been able to write. And it makes me mad. It also makes me mad because I know it will happen again. And again…But that’s a good thing, because the one I’ve been trying to write is about anger and the last 3 weeks were so horrible (with one amazing exception) that I couldn’t physically write the “real” one I’m working on now, so it keeps it all relevant! That’s my silver lining in the whole blog writing matter except I won’t be able to keep using this title every three months when my body gets in my way, needing those needles.

So many things and events have occurred that I couldn’t spin into interest for anyone. I refused to torture people with myself in the worst mood and sky high pain levels, making me incapable of sitting, typing, thinking, much less formulating actual words. I’ve had one of three cervical epidurals, frozen water pipes, locked keys and a shih tzu in the “new” car AGAIN (yes, there was another time in that span and I did order one of those hide a key things but I didn’t just write that and no one would find where I put it anyway) the very SAME day at the end (I thought) of a seven hour round trip for cervical dystonia Dysport injections, trying to skirt an impending snow storm but inadvertently causing my dog to get pancreatitis which meant a trip to the doggie ER the next day after the snow AND because I wrote a review for the awesome dude who unlocked my car, got myself into Google+ (plus….plus meaning screwing up ALL my email even worse). There are about 798 OTHER things I don’t even want to begin to think about just for the sake of proving my inability to use my arms to squeeze out even one funny moment, when I suppose there had to be maybe one in three weeks, but I surely can’t think of it at the moment. If I do, I will make a note of it….

I have been so angry with my own disorder dictating my life, while at the same time being completely surprised, honored and proud to no end, as I found out I am a Finalist in two categories for the 4th Annual WEGO Health Advocate Awards! My mind is blown and I am so grateful for the people who nominated and endorsed me, the 64(!) judges who even paid me any attention surrounded by hundreds of amazing health advocates and the fact that I really do care and made a difference in the world and these people I look up to and I don’t even know can feel it, whoa….(Winners announced March 18th). IF I were any “normal” person, I would’ve written a whole post JUST about this, but I couldn’t because my right arm wouldn’t work and it is attached to my neck and it wouldn’t look down. Down is where the keyboard is….and I don’t know how to type without looking because I had to drop out of typing class in high school because of back spasms and couldn’t sit up straight. I made my teacher mad every day and then she felt bad when I was diagnosed with a whole bunch of stuff leaving me in something resembling a straight jacket my whole freshman year. I digress….I was only able to thank Wego on Twitter and make some changes to our website, it felt so inadequate but it’s all I could really do and this too.

I am writing about a subject which has proven to be quite difficult and is challenging my memory, body and my difficulty resolving an emotion I don’t really know how to incorporate into my present life and doesn’t fit into my other more positive and evolved skill set of handling shit. It is not an angry blog, it is a long story about anger and I had to get permission to even write it from my mother because I am using the memories of my childhood to tell a tale most certainly revealing what I have held true for 35 years. In a way, I hope don’t get corrected with facts, I believe in fairy tales and the little kid mind of filling in the gaps when the dots are missing in order to connect.

I am almost finished with the introduction of the next “installment” and I think it’s about as long as this in between post. Its gonna be a LONG one, but it’s flowing faster out of my mind, through my fingers, just as the toxins are starting to flow faster through my physical body, allowing the dam to open…a story of deception and jealousy, of selfishness evolved from inadequacy, a deep look into the past and ending in ashes. Sounds so dark but I’ve smiled so many times already, I think it must be more than about anger.

Maybe the truth will reveal itself in the life of my great aunt, Hala. Hilda (Marie) Frisbee……