Neither Fish, nor Fowl, nor Good Red Herring - the trials and triumphs of having a unique medical diagnosis

A civilized society is one which tolerates eccentricity to the point of doubtful sanity.
~ Robert Frost 

A funny thing happened when we got back from Chicago. The very next day, fresh from two weeks of relaxing at Ronnie's house*, I had an appointment with my study doc, a neurologist specializing in movement disorders. I'm taking part in one of her clinical studies.

This was a major visit and included a thorough neurological evaluation. I tapped my fingers and toes, made circles in the air, walked up and down the hallway, and answered questions in the cognitive part of the test. I am never thrilled when the cognitve section comes up. They have a habit of asking ridiculous questions. I mean, come on, are we really supposed to be able to count backwards from 100, subtracting 7's? When, in life, will I need this skill? Is it important to be able to look at a list of 10 totally random, unconnected words, and then recite them back without looking at the list?

I've never yet failed the test. You're probably expecting me to say, “until now”, but that's not the case. This time, not only did I not fail the test, I ACED it! There could be several explanations for this. Maybe this was an easier version of the test. Maybe I really am intelligent. Maybe I was just calmer than usual.

It's a funny thing with a lot of these neuro muscular disorders. Stress makes everything go haywire and then the meds don't work and I move like one of the monsters in a B horror movie. This effect is talked about a lot. We all know what stress does to us. What isn't talked about is the opposite. What happens if you have an extended time that is completely calm and non-stressful?

I realize this rarely happens to anyone. Maybe this is why no one mentions it. It happened to me. Ronnie's house, despite being there with our daughter, who was recovering from surgery, was surprisingly non-stressful. There were all those nooks and crannies where we could sit and read or watch a movie; and of course, there were desserts everywhere we looked. I couldn't live this way all the time. I'd be terribly bored and terribly overweight. For a couple of weeks, however, it was nice.

So I rested, relaxed, and came back to ace my neuro exam. This prompted my doctor to question my diagnosis. I'm serious. After being diagnosed for over 5 years, suddenly my doctor says maybe I don't have Parkinson's. Now, don't get me wrong. I wasn't cured suddenly. I was just looking better and performing better than I should; especially in the cognitive region. The old grey matter was functioning admirably. What was my doctor thinking? We talked for awhile and I came home and immediately got onto the internet to research something called “Dopamine Responsive Dystonia”.

The other day, I went back to Kaiser and I discussed my research with my regular neurologist, Dr. Lindsee Hudson.  She is great. We often spend at least half the visit laughing at one thing or another. This time was no exception.

“From what I read,” I informed her, “it seems I either have Early Onset Parkinson's Disease with Dystonia that responds well to Dopamine or Late Onset Dopamine Responsive Dystonia with Parkinsonisms.”

“You got that right,” she replied. She went on to say that they are treated the same way. If, and this is a big if, I wanted to, and had an extra $7,000 to get a DATscan done, we might be able to determine exactly what this is.

Okay, I don't have the money to spend on a DATscan, and I'm not sure I would do it, even if I could. Why? Dr. Hudson understood immediately. She had thought of the same reasons before I even brought them up.

1. There is a large community out there for people with Parkinson's disease (PD) with lots of classes and support. There isn't anything like that for people with Dopamine Responsive Dystonia (DRD).

2. In the PD community, I am considered young. In the DRD community, I'm considered ancient. DRD usually hits in childhood, late teens are considered to be old.

3. I definitely have parkinsonisms. One website maintained that late onset DRD was really a sign of early onset PD. I'm not sure there's enough understood about either disorder to know what is what.

4. Even within the community of people with Dystonia, DRD is rare. According to my doctor, I'd be a community of one.

I'll stick with the diagnosis of Parkinson's, but there's something cool about this. I don't fit easily into any category. Not really. I don't follow the typical pattern of Parkinson's and I'm too old to fit nicely into the DRD group.

I'm unique. My husband didn't bat an eye. He said he'd known this for years. My son just said, “Weird”. I thought he meant the whole situation. Seems he meant me.

I don't know what this means for my future, not really. My doctor is optomistic. She says I must have some sort of unique variation. Maybe something in between the two disorders, who knows? She says, whatever it is, it seems to be a good variation. I'm doing better than I should be doing at this point and I don't seem to be effected cognitively at all. I thanked her for not doing a cognitive test that day. Having rushed to get to the appointment and hitting every single red light on the way, I wasn't exactly in my non-stress mode.

In fact, I was feeling a little more like one of those monsters from the old horror movies.

Uniquely weird.

*Ronald McDonald House... We're on first name basis now.

Life Coach - Quarterly Report, Part 2

(In last week's article, Terri had found Mo's Life Coach Quarterly Report. It was less than flattering and, according to Terri, not completely accurate. We join them now as a rather chubby Mo responds to Terri's call.)

Mo snorted. I ignored her rude response and slammed the paper on the table beside her.

Me: What is this?

Mo: My report. I'm a professional, you know. I am obligated to keep a record of our work together.

Me: Right. I suppose you consider this to be your unbiased report?

Mo: Of course. It wouldn't be professional if it was biased.

Me: Okay. You do remember, these goals were for the whole year. They didn't have to be met all at once. I mean, look at my goal for cleaning the house. You'll have to admit, I've done very well on this one. I keep up with the laundry, the dishes, I'm working on keeping the floors clean. We've done quite a lot of decluttering.

Mo: And the stack of papers by the exercise bicycle?

Me: I have till the end of December to deal with them.

Mo: Right. Okay, we'll go for another one. How about exercising? You didn't get up and do yoga every morning as we had arranged.

Me: YOU had arranged that one. I gave it a go and learned that doing yoga before my medication kicks in doesn't work very well. Life also kicked into high gear. I had to adapt my exercising goals to fit in with all the craziness in my life. I've been taking walks, going to yoga class and dance class, and trying to do simple yoga exercises while I'm doing chores. Oh, and my doctor is very happy with how I'm doing. No medication changes for my Parkinson's.

Mo: Impressive. I'll give you full credit for adapting, but you get counted down for not communicating this with your Coach.

Me: If you'd been around more...

Mo: Yeah, yeah. Let's get to the important stuff here. How about nutrition? I hope you're not going to make excuses for that, are you?

Me: No. I didn't do well at all with that one. I'll admit it. When life gets a little stressful, I hit the chocolate.

Mo: (reading from her list) ...and cookies and ice cream and Baileys and brownies. Did I miss anything?

Me: Considering you are twice the fairy you were the last time I saw you, I don't think so. To look at you, one might think you had stayed at Ronald McDonald House with us over Easter. ...uh... did you?

Mo: I thought I'd better keep an eye on you, and it's a good thing I did! Just think what trouble you'd be in now, if I hadn't kept the elevators busy, giving you a good reason to take the stairs.

Me: Thanks, but it was hardly necessary. I was worried enough about the effects of all the wonderful desserts the volunteers made for us and left in the kitchen. We could get chocolate any time of the day or night.

Mo: We sure could! (A wistful expression had come over her) The Brownies worked hard baking those chocolate chip cookies. It would have been mean to not eat them.

Me: My thoughts exactly.

Mo: How about we sit down and write these goals again. It's easy to see we've got work to do. 

Me: Sounds good. I don't suppose you'd like....

Mo: Some ice cream with Bailey's on top? I thought you'd never ask!

Life Coach - Quarterly Report

The corner of the paper was sticking out from under a stack of books. I wouldn't have noticed it, except a burst of energy had prompted me to start my spring cleaning. I pulled it out and unfolded it, so I would know whether or not it could be thrown away. It read as follows:

Life Coach Report 

First Quarter, 2012

Coach: Marshmallow “Mo” Fairy             

 Client: Terri Reinhart

  First Quarter Assessment

Exercise

Goal: 30 minutes of yoga/morning, 30 minutes of walking/day

Assessment: HAH! Client was up early exactly 4 days and those were not consecutive. Client did not do her yoga exercises as agreed upon. She did better with walking but only because her husband insisted she walk with him.

Household

Goal: Declutter, get rid of unnecessary papers, clothes, and other odds and ends. Keep house clean.

Assessment: Client started out well and the amount of unnecessary papers has decreased significantly, the last of the papers have been piled up in the workroom, next to the rather dusty exercise bicycle for the last two months.

Challenge: Client still has the tendency to stop at thrift shops and yard sales.

Nutrition

Goal: Eliminate sugar for 30 days, then keep sugar intake at a minimum, using desserts as payment for Life Coach.

Assessment: Not even worth discussing. Until Client is ready to make a serious change for the better, her Coach will be garnishing her supply of chocolate as payment for services rendered. This is only fair, as the Client has often forgotten to pay her Coach.

Weight

Goal: At or below present weight

Assessment: Achieved. Probably coincidental rather than from diligent work. Must have something to do with involuntary muscle movements.

Health

Goal: Keep Parkinson's medications at a minimum by living healthy lifestyle

Assessment: Client has kept medications to a minimum simply by refusing to increase them. Coach is unsure as to how this will affect Client's health goal.

Personal

Goal: Be consciously grateful for all that life brings, whether blessings or challenges.

Assessment: My Client must assess this one on her own. She appears happy, but she might be hitting the Bailey's.

Summary: Though my client has made some positive steps toward meeting her goals, she still has a long ways to go. 

Recommendations: Client should reassess her goals and rewrite them, if the original goals were unrealistic. Client should not forget to pay her Coach. Paying in advance will show the Life Coach that her Client is serious about her work. Giving her Coach a raise in pay would also be beneficial.  

I put the paper down. I had read enough.  

 “MO!” I called, “GET OVER HERE NOW!” 

I hadn't seen Mo, my Opinion Fairy and Life Coach, for some time. There had been a lot happening in our lives, and I figured Mo had gotten bored with me. I hadn't worried; until now. I called two or three times before there was a response. Then I heard a fluttering of wings. “Odd,” I thought, “Mo's usually so quiet. I've never heard her wings flutter.” Perhaps it wasn't the fairy after all, but a small bird?

No. It was Mo. She seemed to be having trouble staying airborn for very long. When she came into close range, the reason became obvious. I think she had been garnishing my chocolate a little too freely.

I couldn't help myself. I started to giggle. “I think I'll start calling you Marshmallow.”

Mo snorted. 

I can't wait to hear this story! 

(….to be continued)

Stepping Out

Plié [plee-AY] verb. Bent, bending. A bending of the knee or knees in dancing. 

I'm still enjoying dance. It agrees with my body. In fact, my body is enjoying dancing so much it has decided to practice steps whether I intend to or not. Lately it's the plié. That's when you bend your knees slightly. The movement is supposed to be done gracefully, but that's not always what happens. It would help if my knees would inform my brain when a practice session is about to begin. Instead, they plié without my permission and chaos ensues, at least for the moment.

When something like this happens, I'm never sure what to make of it. Is it just a temporary fad or have my legs decided on a permanent dance career? Whatever it is, I find myself doing a modified traveling waltz step as I go along: down, up, up, down, up, up; plié, step, step, plié, step, step. After a while, it's not too bad. I can get into it.

This, however, caused great consternation among the security personnel at Denver International Airport last week when my daughter, Emma, and I flew to Chicago. When we travel, I bring my walker along. I don't use it all the time, but traveling is stressful. Stress + Parkinson's = Total Klutz Time, or TKT. When I am in TKT mode, a walker is necessary so other travelers are warned to keep their distance.

The trouble, of course, is the security folks have to go over the walker to make sure I'm not sneaking in weapons of mass destruction in the front basket or the tubing. Their first question to me was, “Can you walk for a short distance without your walker?” Of course I can. I do it all the time, but to make them feel better, I walked as close as I could to the actual scanner before giving it up. Then I was on my own for the next 20 feet. No problem.

I walked through the scanner, lifted my arms in the required manner, and walked out, without a hitch. Emma had to go through twice. She has now learned to not wear jackets with sparkly metallic thread. It confuses everything. I gave her my best patient look. She rolled her eyes.

Once out of the scanner, I went to find the plastic bin with my shoes and other belongings. That's when someone behind me dropped their bin on the metal table.

Grand plié.

Not expecting my knees to bend, I grabbed onto the table. Then the security people took notice and asked me if I was okay. I assured them I was fine, then continued on my way, making another grand plié with every step. Security guards were asking me if I was okay, at the same time I was attempting to communicate to my legs that now was not the time to practice dance moves. Though I continued to assure the security guards I was fine and this was normal, I don't think they believed me. Before I knew what was happening, they had gathered up all my belongings and were escorting me to an area labeled, SECURITY – DO NOT ENTER.

After a moment of panic, I realized they were simply giving me an area where I could fumble around as long as I'd like without bumping into anyone else. They were actually quite nice after that. Maybe they felt guilty for taking away my walker, especially now it had been inspected and no weapons of mass destruction had been found. They even called for an electric cart to drive us down to our departure gate.

Once our flight was ready, we were allowed to board first, giving us first dibs on the overhead storage space. This is when I decided I make a good traveling partner. I briefly considered making this into a career; after all, I have always wanted to see the world. I could advertise: Bring me with you on your next trip and go to the head of the line!

Ah, but airplanes aren't as comfortable as they used to be. Instead of the nice wide seats and acres of leg room I remember from 20 years ago, airplanes are now more like air born Greyhound buses, packed like sardines. That first flight was a bumpy one. There were tornadoes somewhere below us wrecking havoc in Illinois. I turned green and wondered if I should dare move just enough to find the barf bag in case I needed it. Fortunately the trip home was nice and smooth.

Regardless of this, we had fun! I enjoy traveling enough to put up with crowded flights, narrow aisles, and little leg room. Though our trip was for medical appointments, and we were only there overnight, we were still able to see a little bit of the city from the elevated train which we took back to Midway Airport. It was incredible and lovely and it felt like we were flying; only we were much more comfortable. Chicago is beautiful when seen from the train. Hopefully we can see it from the ground some day.

I would go again in a heartbeat; which is good because we're going again next month. We have most of our plans made. Emma will have surgery at Shrine Hospital and we will most likely stay at Ronald McDonald House. Chris will come along with me and stay as long as Emma is in the hospital. Then he'll return home and the two of us girls will stay for another week or so.

I just have a little more preparation to do and I'll be completely ready. I want to learn a few different dance steps before we go, something my legs can practice without causing panic attacks in the people around me.

Sashay anyone?

Sashay [să-shā] verb, informal. 1. to walk or proceed in a casual manner 2. to strut or flounce 3. a journey taken for pleasure

Sounds good to me.

23 AND ME NOW FREE FOR PD

BREAKING NEWS: 23 and Me, is offering DNA testing for people with Parkinson's disease at no charge. FREE! This is an amazing deal, one that should make any of us with PD leap to our computers and request the test kit. Ordinary people, the ones out there who don't have PD, have to pay up to $200.00 for this priviledge. 

The best reason to request this kit, other than getting a screamin' deal, is to help further research on Parkinson's disease. The company's goal is to test 10,000 people with Parkinson's. They currently have 6500 of us enrolled, so there have to be at least another 3500 of you out there who have not yet enrolled.

23 and Me has the largest group of folks with PD genotyped and, out of those, the largest group of people with the LRRK2 G2019S mutation, one that is strongly associated with increased risk of Parkinson's disease. If enough of us enroll, there will be loads of data to see if there are other genetic similarities in people with Parkinson's disease.

It's FREE! Do it now. https://www.23andme.com/pd/codereq/ 

It's easy. You don't have to get blood drawn or go to the doctor. You just have to spit into the container in the kit, and send it back.

Benefits to enrolling include: 

23 And RE – RESEARCH! There's a lot of learning going on in this program. Those of us with Parkinson's disease are just one group that will benefit from the DNA research. I receive regular email updates letting me know about all the new research information that is available.

23 And ME – What health challenges am I at high risk for developing? What are my low risks?

Where did my ancestors come from? What is my maternal/paternal haplogroup? What is a maternal/paternal haplogroup? Whoa... the ancestry portion adds another huge dimension to the program.

23 And WE – Learn how closely we are all related. Find a 5^th cousin. Share your genome information with others (if you'd like) and learn even more about your ancestry or learn from others who have similar health challenges. There's even a message board just for us folks with Parkinson's, too.

If all this doesn't give you enough reason to join up right away, Mohammed Ali just enrolled, too. Now we can add 23 And Ali!

Really and truly, if you have Parkinson's disease there is no reason for you not to join, and every reason to enroll for FREE and help this important research. It's probably the easiest way for anyone to help. After you join, check out their Facebook page and Blog (The Spittoon) to learn about just how MUCH you can learn from this program!