New Rheumy

New doctors are always a tense encounter, even if there are no medical complications in your life.
I was both excited and nervous when my Rheumatologist appointment finally came around ( had to wait almost 2 months from when I called for an appointment).  I know that this will be the primary doctor I work with for pain management and staying as active and strong as possible.  In my mind, I wanted her to be well informed, have things to teach me, as well as listening to my point of view, research and experiences thus far.

I think it will work out well. She was informed about EDS, and told me one or two things I did not know.  She taught me that my right hip popping and clicking( which it has done since my teen years) may not be a tendon problem, but might be joint deformation or damage. We are getting an XRay as a baseline, so we can track any changes and better anticipate a course.  She did a thorough joint exam and confirmed that the joints where I currently have the worst pain were cases of tendinitis, and that I should treat any new points as we move forward as if it were tendinitis, and not just a general ache to ensure faster recovery. Some of it is in joints that have been active for so long that I did not realize it was an issue- I had just adapted to it. It was good to have it pointed out .  I say once again- thank $Diety for refreezable cold packs ;-0

She was a little too fast to offer meds and I had to push harder than I liked for alternative treatments.  It was good not to have to argue when I asked for two different doses of Naproxen ( wanted a lower one for good days), but kind of scary how fast she was writing a script for more serious pain killers. I got it filled, and hopefully it will be a bottle that just sits in the cupboard unused for a long time.  Once I pushed for things to try to try to improve, she wrote a script for PT as well. [side note: I have had my PT eval and have my first session in the pool next week. I will write more on PT after that- but the eval session has me very excited] Time will tell, and hopefully we will get on the same wavelength quickly.

I was very encouraged by the fact that she was excited to have me see an EDS expert in June, and that she purposefully made our next appointment for AFTER that point in time, so she could learn what he thought and take that into consideration for my treatment plan.  Hopefully his words will help shake her out of a "you know we can not cure this" mentality and up into my thought path of "can't be cured, but impact can be alleviated".

All in all, it is nice to have a new rheumy, and I think we might get along OK.

I am a documented mutant !!

I got a call from the NorthEast Indiana Genetics Clinic this morning, they had results of my genetic testing for Ehlers Danlos ( classical type) back from the testing lab.

I am a certified mutant of ColType V ( although in my excitement, I forgot to ask if it was ColVa or ColVb- they are mailing the report to me, so I will find out soon enough). The coolest part ( ???) is that this is a relatively new mutation. They said the testing lab said they had seen it in one other case, but with no details).

The mutation is in the 3rd exon, with a point mutation that changes an alanine to a valine. Sounds small, right? How could that be significant?

Here is an Alanine molecule:

And here is a Valine molecule:

Note that extra branch on the Valine molecule.

Protein Structure is highly dependent on the interactions ( physical and molecular) between the amino acids that make it up. In a molecule like collagen, which is highly dependent on large numbers of proteins correctly lining up and inter-twining to provide correct strength and function, you can see why having an extra piece of a molecule poking out would disrupt the normal strength and function.

In addition to physical problems, a Valine is almost 3 times more hydrophobic than an alanine, which would disrupt the series of hydrogen bonds which normally hold these molecules in their folded shapes and together with each other.

Alanine is by definition an amino acid that is conducive to alpha helix formation, and valine is notoriously a bad alpha helix maker. Other problems with protein folding have been seen with single alanine to valine mutations.

Single point mutations in other genes which result in a change of alanine to valine are found as problems in other syndromes or genetic disorders as well. Things like inherited neuropathy, Dyskinesia,and even an inherited prion disease. I am sure there are others my quick search did not turn up.

Since we now have an easy marker to look for, we will be getting both of the girls tested as well. Their appointment is set for early June, which means no results until July or so.

My Sweet, Sweet Nemesis

Hello, my name is Nan and I am a sugar-aholic.
It is sad, but true.
Worse, I am pretty sure that Sugar is one of the worst things I add to my body. I know this, yet kicking the habit is insanely hard.
By writing it here, I hope to get back on track.

Not so long ago, I spent three years sugar free, artifical sweetener free, simple carbs very very low.  I know it was the strongest, healthiest, most stable I had ever been.

But when stress comes crashing through the door, the first thing every cell of my brain, every twitch of my body screams for is SUGAR. Not chocolate or anything in particular. There are some times when chocolate is the last thing I want. Sugar straight from the bowl would make my brain happier.

When I was in college and my peers were smoking pot, I would eat a 1lb bag of M&Ms and get a better high.

I recently came across this Video:



Honestly, I was not sure if I should write this off as quackery or take it seriously. People who talk in absolutes set off warning red flags in my brain. But the more I ponder it, the more it rings true in my life.

Then on April 13, the NYTimes tackled the issue as well.

And then I had another EDS'er mention that his pain was significantly higher when he ate higher sugar foods.

Then I started thinking about my life long "seasonal" allergies-- When I was young, I had "chronic bronchitis"- a cough that never stopped and got evil- from sometime in Feb through May and then again in October or so through Decemberish. Some years, it started in October and went straight through to the end of May. My senior year of college, I coughed so hard I separated my ribs ( of course, the EDS helps to explain that a little as well) As I got older, it was diagnosed more correctly as a mild asthma. It has been well under control for a long time, it has been worse the last two years- mostly, I was sure because my stress levels have been higher. The last two weeks, It has been annoying again. I even thought of getting out my asthma meds the other night.

When I stop and think hard about this- the last two weeks, my sugar consumption has been MUCH higher. And my Asthma has been worse. The three years that I was sugar free-- I had basically NO allergy issues-- not even in the high pollen seasons.

So then I think back to those seasonal asthma attacks. Maybe it was NOT seasonal as in external allergens... maybe it is a seasonal sugar intake tie-- October start with my birthday, then Halloween, then the Thanksgiving/Christmas holidays..... quickly followed on by Valentine's Day and Easter. A Candy eating frenzy. After April, there are hardly any other holidays tied to candy... and the fresh veggies are abundant everywhere. Maybe the season that has been triggering my asthma all of these years is the Candy Season.

Something frightening to ponder. If it triggers my Asthma( an inflammation reaction) what other inflammation reactions is it triggering in my already tender body?

The time has come to do battle with this nemesis again- it will be hard for the first 3 weeks. And I will turn into a cranky, whiny miserable sugar craving ball of mammal--- but I will fight through this. I am interested to see what happens to my joint and tendon pain on the other side of this. I started last night by brewing a fresh pitcher of unsweetened ice tea.. I fell down once today, but I am holding out for that as my only falter. Tomorrow, I will falter not at all.


Edits: Here is more information I have found about the ties between the damage Sugar does to collagen-


When blood sugar goes up rapidly, sugar can attach itself to collagen in a process called "glycosylation," or the Browning Reaction, increasing inflexible and inflammation. CRP is not found in foods. However, its levels in the body are strongly influenced by diet.

Diabetics research has found that antioxidants lower this gycosylation. A plus and maybe a reason why VitaminC and other anti-oxidants help with flexibility and aches.

And this on Inflammation ties:

"Sugar and other refined carbohydrates appear to trigger a chemical reaction that creates pro-inflammatory compounds in the body," says Andrew Weil, M.D., author of "Healthy Aging." One 2008 study in The American Journal of Clinical Nutrition found that healthy people who ate a sugar-rich breakfast had high blood sugar afterward, along with increased signs of inflammation.

In an ongoing Harvard Women's Health Study, participants who consumed more high-sugar foods, like white bread and cereal, were more likely to have inflammation and high amounts of bad cholesterol (LDL).

In small doses, inflammation is a good thing. Faced with injury or foreign invaders like germs, our immune cells release substances called cytokines, which help destroy bacteria and trigger short-lived redness and swelling. The problems start when sugar consumption goes from an every-now-and-then thing to a full-blown habit, and inflammation is constant and spreads throughout the body, harming healthy tissue over time.

Studies that link high sugar intake to increased inflammation in the body are troubling, says Mark Hyman, M.D., author of "Ultrametabolism." "Chronic inflammation appears to play a role in heart disease, cancer, and many other major conditions," he explains. "Anything that triggers inflammation -- including sugar -- also triggers disease."

and then this:


Scientists have long linked oedema, arthritis and inflammatory bowel disease with inflammation. Only recently the medical community has implicated the process to diabetes, certain cancers and other unsolvable degenerative conditions. The latest research links heart disease more to various inflammatory conditions than to high cholesterol. Researchers are doing their best to come up with anti-inflammatory drugs and other cures for this inflammation.


Rather than try to find a cure, it might be wise to find out what causes inflammation and stop the cause rather than look for a cure. There are many things that cause inflammation in the body: viral and bacterial infections, surgery, a bruise, a broken bone, allergies, vaccinations, high blood pressure, oestrogen therapy, smoking, obesity, chronic fatigue, and dental problems, among others.

One of the biggest offenders of inflammation is ingestion of sugar. By sugar I mean table sugar, brown sugar, raw sugar, turbinado sugar, honey (even raw), maple sugar, corn sweetener, dextrose, glucose, fructose and any other word that ends in an "ose", barley malt, rice syrup, liquid cane sugar, concentrated fruit juice and others. Don't be fooled by the name organic when it applies to sugar. Sugar is sugar, organic or not, and the following will explain exactly what can happen in the body when you eat as little as two teaspoons.

That Elusive Inner Peace

One of the stress hormones our bodies release is Norepinephrine ( NE). This is a sibling to adrenaline and works to enhance the fight or flight response. When it is first released, in small amounts, it produces a temporary euphoric high- this is how cocaine works. It can also induce a physical reaction  such as rapid heartbeat, increase in blood pressure and sweaty palms.

Flood some more, and you will start to feel edgy, anxious and restless. Insomnia often follows. Aggressive or Hostile behavior can result. Sleep deprived, senses heightened, even more reactive to pain than normal, this can set you up for an infinite loop of elevated norepinephrine levels that starts to make you feel just a little crazy.

Extreme or chronically high levels of  norepinephrine will induce panic attacks, phobias, inability to focus or think clearly. While small amounts of NE enhance memory formation, too much can actually block the formation of memory, causing cognitive problems.
Some of the symptoms of a panic attack are :

• dizziness or feeling faint
• shortness of breath
• feelings of suffocation or choking
• numbness and tingling of hands and feet
• chest constriction and chest pain. 

The most common recommended action to help break this cycle is exercise- burn it off. But for someone who is physically unable ( either temporarily or permanently) this presents a challenge. And for those with chronically high norepinephrine, a little exercise is never enough and too much exercise is interpreted by the body as more stress, and only raises the hormone levels. 

There are some things that are recommended to lower norepinephrine levels, some of which have been successful for me so far, and some I have not yet tried.

• Medication- if the cycle is sever enough, sometimes the only way to break it is to intervene chemically. If you have tried everything else and you are still suffering, work with your doctor to break this cycle. Drugs like propanol, which block NE or drugs that raise GABA levels can be effective here. 
• Breathe- deep , slow cleansing breaths slow down your body's stress reaction and over time help it to return NE to normal.  remember that most natural methods are not going to have instant results, like throwing a light switch, they work by slowly breaking the cycle of increasing stress. this one really does help me, but i often find that once I am wound up, it is almost impossible to stop myself and just breathe. I can trick myself into breathing by turning on a very well known song and belting it out loud. It is impossible to not breathe when you are singing out loud. 
• Progressive muscle relaxation- by alternately contracting and relaxing all the muscles in your body, this works to slow down your system and again slows down the stress response. I know this works, but lately have been prone to muscle cramps and sometimes this sets them off. Doing this in partnership with calming visualizations is particularly a good way to slow things down.
• Having a calming hobby. this is going to be different for everyone. This is most likely NOT video games or computer games. Remember that what you think during the actively is actually impacting your stress. If you find seek-a-word puzzles mind numbing and relaxing, this might work for you. If seek-a-word puzzles make you frustrated and wishing you could rip pages out of the book, try something else. For some people this is needlework. needlework stresses meme out, more than anything. I am lucky that we are now entering into gardening season. For me, getting some dirt on my hands and between my toes is a very relaxing thing.  If you find weed pulling relaxing, come on over- there is always enough here for someone to help with ;-)
• Meditation. this is my challenge. Meditation got my through my divorce. I had a stump in the back yard and I would "stump sit" for a while. I had a big rock in a friend's yard- I would go and sit on the rock. I know I need to return back to this practice, but I have not yet found the path. I know it has to do with feeling overwhelmed with things to do, and making my own self a priority- setting other things a side to just be. I will get there by the end of the summer, this is my current goal.  
•  Massage. this is a big win for me right now. I have found this to be very very helpful. Not only is it slowing me down and relaxing things, but having a myofascial release is lowering my pain levels. While professional massages can be expensive, this does not have to be professional to help.  Having a friend or a loved one give you a massage can make a world of difference. There are tons of learning resources on how to massage available on the web or in book stores.
• Diet Changes.- apparently lowering the tyrosine in your diet can help. Tyrosine is one of the building blocks that make up NE. Without a plethora of the building blocks, your body can not make as much.  Since NE is actually made from  dopamine, and dopamine is made from tyrosine, lowering tyrosine will impact more than just NE. Since other methods have been helping me, I have not experimented here yet- but others have with some apparent success. If you already do this, or you try it, I would love to hear your experiences.

While elevated NE levels from chronic stress can convince us that we are out of control and hopeless, can increase our aggression and hostility- effectively isolating us from support structures, and can turn our bodies into traitors- there is hope. We can actively combat the effects of chronic pain and stress in our brains and find and maintain that elusive inner peace. When I get there, I will light the candles and shine the light so it is easy for you to find. If you get there first- light a few for me.

The Good, the Bad and the Ugly....

Doctors are like lawmen- some are good, some are bad and some are just plain ugly.

I am lucky enough to say I have never had to deal with ANY in the ugly category, and so far, my dealings with the Bad have only been second hand.

My favorite Good Doctor is my neurologist. The one who put up with me being an insanely frustrating patient all last fall and into this winter. I presented as a classic Myasthenia Gravis Patient. Everyone was sure that was what was wrong with me. Even me. When test after test came back negative, he switched to the other likely candidates, and even the unlikely ones. We were to the point of last resort. He went to battle with my insurance company for tests they wanted to deny, when I uncovered the EDS link. EDS was well outside of his area of expert knowledge. He later told me they had a lecture or two on it in medical school and that was all he knew. Although he was starting to mumble about somatization disorder, when I emailed him about EDS, he was excited, positive and congratulated me on my good detective work.

When I recently had a "last follow up" to basically dismiss me, unless I develop pinched nerves or neuropathy, we spent the entire session with him eagerly learning as much about EDS as he could. He had frequently talked about the increasing number of frustrating cases that had some of my symptoms, or were sort of similar, but no diagnosis could be found. This obviously upset him significantly and now, presented with my data and experiences, he was happy to have another possible tool in his belt and an avenue to explore with some of his other "black hole" patients.

These are the good doctors. I do not expect any doctor to know everything. It is physically impossible. But the good doctors are willing to learn and change their learned paths when confronted with new information. There are actually a lot of doctors who fall into this category-- they just have not had the exposure to EDS patients to learn. I am not sure why the EDNF does not put together case studies or patients as models on display and actively educate doctors.

Then there are the bad- a rheumatologist a family member crossed paths with falls into this category, as far as I am concerned. They are a good doctor, bedside manner, etc.. He treats their symptoms and helps with their pain. But when recently asked ( in light of my situation) if the problem could be EDS- he said- Yep, likely, but then wrote down "Connective Tissue Disorder" on the chart instead of EDS. Worse, he then proceeded to tell her that there are "lots of people out there with this- it isn't really rare, but unless someone is really bad we do not call it EDS, or else people freak out". He then also proceeded to tell the story of an olympic gold medalists who he was sure had EDS- as a means of re-assuring her.
This makes me want to rant in ways that are less than polite. Let me just say that I find this not only immensely patronizing and patriarchal, it also skews all of the research and medical data on the disorder. I agree that this is not a rare phenotype, and it covers a range of expression. But how are people supposed to figure that out unless you show them the real range? If an Olympic gold medalist can have EDS- does he not think this would help and inspire others with the condition? Wouldn't this help to prevent people from "freaking out"? Wouldn't researchers want to study him as well- to see how/why he is different and stronger than EDSers who can not walk? OIY.
That is enough of my ranting- I would love to hear your experiences or examples of the good, the bad and the ugly in the comments below.

Cracking the Pressure Cooker

Stress kept early humans alive, uneaten.
Stress can be a motivator, pushing us past our mental hurdles.
Stress is like alcohol- makes you happy in moderation, Destroys your body in overdoses.
Stress is insidious.( cue movie trailer ;- 0)


When we think of stress, we often think of outside pressures- paying the bills, getting a job, raising our kids.
For some of us stress is also internal- push to succeed, self- expectations.
What we forget is that stress is also a natural body process, triggered and set off by things we may not be monitoring at all.

Our Brain, which both controls and is impacted by stress hormones ( cortisol,Growth Hormone and norepinephrine).  And our Brain is still convinced that we are wandering tribes of nomads, hunted by tooth and claw predators.

Sleep Deprivation? Must be getting chased or on the move for too long, or... something horrible. STRESS.
Too Few Calories? Must be entering a famine period- STRESS
Chronic Pain?  Broken. bad. will be eaten.  STRESS
Too long in one position? movement levels too low? Must be broken, must have an infection- Inflammation and STRESS.
 Afraid? Worried? Must be something  or someone after us. STRESS


If we were really in those positions, cortisol does exactly what you want it to do, and has kept us live for millions of years. But when modern "realities of life" are misinterpreted as threats, the actions of cortisol produce more damage.  Cortisol, either directly or by triggering other chemicals,  blocks insulin, creating a sort of insulin resistance, stimulates the process that increase blood sugar levels, tells your body to store every bit of extra calorie it can as belly fat,destroys collagen, and inhibits bone formation or even breaks down bone. It increases gastric acid formation, inhibits the immune system and the inflammatory response and touches nearly every other metabolic pathway we have.

Norepinephrine is involved in mental processes. It assists with focus and memory- in short doses. Too much and the regulatory pathways of the brain get messed up. At first, too much norepinephrine causes mania, increased heart rate and high blood pressure. Since it is also linked to dopamine, after prolonged raised levels it can also feedback and reduce the amount of dopamine in your brain, which can cause depression. It can also impact Glutamate levels, which impacts the pre-frontal cortex and cognitive function. Although Norepinephrine initially increases focus, over time it decreases focus.  End result? You end up either Hyperactive and unable to focus, or depressed, fog brained and unable to think clearly, or some mixed combination of these. Brain soup.

Here is the real heat in this pressure cooker- Once you have what your body recognizes as a "stress event" ( pulling an all nighter, a weekend of fasting, etc..) the threshold needed to trigger the next stress event is lower. And the next is lower, And the next is lower.  So if you are in a situation of "chronic stress", soon every little wiggle, every little variation is a STRESS.  Worse? It takes a long time for this to level back off.

So- even if you solve all of your financial, marriage, friend and parenting stresses and you live on easy street, if you live in the modern world that moves fast, is over stimulated, sleeps too little and eats badly? STRESS.

What a treadmill. Seems almost helpless. Add in any kind of chronic illness that also impacts these things and it seems like an impossible battle. Too much effort. Bend up and go home.

For me, what it is taking to beat this is to step completely off the mental merry-go-round and scream "enough!!".  

Don't get me wrong- this is not magical. There is no silver bullet and I am not "all better". I still have days when every little thing makes me want to cry.  I have days when the pain hurts so much i just want to curl into a little ball and give up.  But I can start to see the difference.  In December, I could not remember a list of 3 things. My memory was GONE.  Just a couple of weeks ago, I had some cognitive testing done by a psychiatrist and my memory and cognitive functions came out as superior. It still seemed like more work than it should have been ( my memory used to be effortless), but the doctor told me I scored higher than he did.
Back in December, it was hard to hold a conversation. From sentence to sentence, I could not hold on to my train of thought.  People could tell me things and four sentences later, I had forgotten.  Now I am back to writing and working. I have started podcasting and am actively job hunting. Socializing energizes me, rather than exhausting me and I can get up in the morning and remember what I discussed the day before.

So what have I changed?

• I am trying to get more sleep. From 4 hours a night to a target of 8. I do not regularly hit my 8 yet, but i also sometimes nap.  Almost every night, I get at least 6 hours of sleep. I will get there eventually. 
• Vitamin B mix vitamin supplement. Not just the 100% of vitamin B in the regular multi-vitamins, but an overdose of Bs, especially B12 and niacin. ( you pee out extra, it is safe). 
• Increase omega3s in my diet. Omega3s block the release of cortisol, lowering it and buffer the stress level that will trigger the next release. 
• Distraction. Getting busy and thinking about something other than how much my body hurts and how miserable this all is. This seems like a mental trick, but remember part of the cycle is in the brain. The things you think impact your neurotransmitters. 
• Making sure I eat well. whole foods, enough calories, a variety. Nothing my body could distort into a mistaken stress signal- especially since it is so "trigger happy" at this point of my life. 
• Meditation and physical activity- both of which change neurotransmitters in the brain- even in little doses. 

What is the stress in your life? How can you crack the pressure cooker?

Most importantly, I know this will be a slow process of small changes- sometimes so small i can not even notice them, so i get feedback from the people around me and my goals are long term. This time next year, I hope to be out of the Stress Pressure Cooker and just merely grilling.