My hand is falling off

I know I have avoided the how to describe Ehlers Danlos post... this will be a start.

Ehlers Danlos Syndrome is a genetic disorder. When you think about Ehlers Danlos remember it is not a disease, but a genetic syndrome. Other genetic syndromes could include Downs Syndrome, Albinism, or Dwarfism. So when you read through this remember- EDS is not something that is curable anymore than you can cure someone with Downs Syndrome, an albino or a dwarf. There can be treatments to support but- my body is literally built differently. I am not sick. I am a mutant.

Ehlers Danlos has a spectrum- there are different types. I received my first diagnosis of EDS at age 15. Since my diagnosis the types of EDS have changed (I think) 3 times. It is very misunderstood and I have heard rumors that the types may actually be headed for another adjusting. Currently, my type is "Hypermobility Type" as diagnosed by a geneticist. However, I have had other doctors suggest possible Classic Type. There is no genetic test for Hypermobility Type. There is a test for Classic Type- however it is only accurate 50% of the time. So for my diagnosis, it was all done by physical examination and medical history. For the sake of ease, most of what I write about here will be about Hypermobility Type-though I will just refer to it as EDS.

I have had some interesting reactions from doctors once they diagnose me- the first doctor (when I was 15) was an orthopedist- he told me I could join the circus. The geneticist I saw last year said, "Well, I don't envy you that is for sure."  ?!

The first time a doctor mentioned Ehlers Danlos Syndrome was in Baltimore. It was while I was receiving treatment for RSD. I had continuously complained to every doctor & resident that I couldn't move my left ankle. They would check my range of movement & tell me it was normal. This happened repeatedly. Until one resident came along- I went through symptoms including not being able to move my ankle. He checked it & declared the range normal. I made some sort of a huffing noise with an eye roll that all teenagers have perfected- the "whatever, you have no idea what you are talking about and are therefore an idiot" move. He noticed and stopped. Then did something no other doctor had done- he checked my other ankle. When he checked range of motion on my right ankle, his eyes nearly popped out of his head. He immediately started checking my other joints then bolted out of the room. He came back with every other doctor and resident at the facility and showed them my range of motion. They all were surprised and congratulated him on catching this. Meanwhile I am sitting there like "what is wrong with you people?" They explained to me that I had Ehlers Danlos Syndrome and I could join the circus. Seriously. That is what they told me. I was also told not to run on hard surfaces or uneven surfaces & that was it. At the time, stats had EDS being diagnosed as 1 in 15,000. Today that is down to 1 in 5,000.

SO WHAT IS EDS?!! EDS (by the way, not to be confused with today's popular diagnosis of ED) is a connective tissue disorder. Connective tissue is the glue that holds your body together. Literally every cell is connected to every other cell- and connective tissue does that. It is in every system- skeletal, muscular, digestive etc etc. Connective tissue has different functions tho it mainly protects organs, provides structural framework in addition to glueing everything together. There are different types of connective tissue. When you read about EDS, collagen is the main type of connective tissue that is mentioned- HOWEVER, let's keep in mind there is no genetic or even tissue biopsy type test to confirm hypermobility type (and classic type is only 50% accurate)... SO, while if you google EDS you will see info about collagen and that is about it- keep in mind that other types of connective tissue can be effected but the main type that is noticeable is collagen so that is what most research has focused on. As EDS becomes better understood- some types of research are moving into the other types of connective tissue and even connective tissue cell types (mast cells for instance). However, collagen shouldn't be discounted! Collagen even has many different types- as a whole collagen is the most common protein in the body. So when your body decides to change that protein just a bit- big things happen.

If we picture our DNA as our body's recipe book- keeping in mind of course that nature has its place! DNA mostly decides how things get put together (and then what I eat provides those building blocks... diet is important people, you literally are what you eat!!). So in most people, their DNA recipe for connective tissue provides a nice firm yet stretchy substance- akin to that of a rubber band. It stretches nicely, but then goes back into shape. A person with EDS is working with a totally different recipe... making more of a silly putty. Since my body can only follow the recipe it has been given- I just keep making silly putty. Remember the example of an albino- no matter how much you try, they will not make color pigment. They can change their diet, take pigment pills, apply crazy creams- that is just adding ingredients- their body has no use for ingredients for pigment as its recipe does not know what to do with them. Likewise for EDS, I could use "firming creams" or take connective tissue support supplements or inject collagen all over- but once inside, my body goes "what is this? we have no need for this in our recipe so dump it out." Like the difference between making a nice loaf of whole wheat bread vs making bread pudding.  Non-EDS'rs bodies are working with a recipe to make bread, my book doesn't have that recipe- my book only comes with bread pudding. You can order all the bread you want, you will only get bread pudding.

This tendency towards silly putty/bread pudding is mostly visibly seen in the joints- thus the name hypermobility type. One of the major diagnostic criteria is called the Beighton Scale. There are 9 points you receive one point for each:
*Bending over and touching your palms flat to the ground while keeping your knees straight (Uttanasana! Yogi's unite!! Actually... from my limited personal research, this is the only point on the beighton scale that can be "learned")
*Bending your thumb forward so that it can touch the inside (palm side) of your forearm (one point each side)
*Bending your pinky finger backwards over 90 degrees (one point each side)
*Hyperextending your elbows backwards over 10 degrees (one point each side)
*Hyperextending your knees backwards over 10 degrees (one point each side
***Note- none of these should hurt or be overly forceful. They should just kinda happen with moderate pressure/extention
***I think this is the up to date version. It changes. They used to say you had to bend all your fingers back 90 degrees (many EDS'rs remark as a kid a sibling tried to bend their fingers back as torture- but it never hurt so they didn't quite understand the point) , or your index finger. Knees are sometimes said to go backwards over 20 degrees. Depending on the doctor you see and the research they have read- to qualify for major diagnostic criteria you must be able to do 4 or 5 out of 9. I can do 9/9 (even at the more severe versions). Many people I know can do a few points on here, no worries, just means you are prone to being a little more flexible- there are other diagnostic criteria I am not going into yet. Also withe score- age is of course a factor- even EDS'rs tend to tighten up as they age. Post pregnancy can also effect changes in joints and can lower a person's beighton score. Note- if you are bored, google image search for beighton score.

There is WAY more to EDS than beighton score & joint hypermobility. Remember, collagen (just one type of connective tissue) is the most abundant protein in the body (wikipedia says 25-35% in mammals)- and that means more than joints. But this has gotten long & we are just starting... so back to my hand falling off...

One of the signs of EDS is frequent dislocations. Things just pop out. And mostly they pop back in. I routinely sublux (partially dislocate) many joints throughout the day. I had full dislocations more as a child. I trained myself to wake up at night whenever I move (I have actually met others on EDS discussion pages that also do this!) because I was dislocating my shoulders & knees when I rolled over. At the time, I didn't know that was what I was doing- and didn't know it wasn't normal (this is part of the problem with diagnosing EDS- people don't know what they are doing isn't "normal" because it is "normal" for them. You hear dislocation and you are told a dislocation has to be re-located by a doctor... not true with EDS!!! Most of us naturally learn how to put things back into place as we go). I still wake up to move at night. Over the years, I have become better at not dislocating by becoming more mindful of how I move. I literally have to think about how I am going to move each joint- how I am going to pick up that jug, how I am going to walk up that step. My body does not hold itself together- I hold it together. Literally, I have to engage my muscles and decide how far a joint is going to move before I make every little movement. Because when I don't think about it- things pop out. When I walk, it is not one foot infront of the other, it is place foot, hold ankle in place, hold knee in place, hold hip in place, prepare to transfer weight... and go (repeat on other side). Every time. Sometimes I cannot have a conversation with you while I am walking- sometimes all of my focus is on what I am doing. Some days are better than others- but every time I move, there is some degree of awareness of the movement. Interestingly, fibromyalgia tightened up my muscles a bit and I started dislocating less. Even more interesting as I have started on a low dose of Lyrica for fibro- my muscles are loosening up which is awesome from a pain perspective, but all of a sudden walking is getting harder again! Agh. Anyway... my hand....

A few years back my brother and I were making dinner. I was making mashed potatoes. We were talking. I was not paying attention. I dislocated my right wrist. Now, there are subluxes (partial dislocations) and full dislocations (joint is fully out of socket)- and then there are wtf, that does not look right at all (joint is no where near socket)... this dislocation fell into the latter category. My hand was kindof under my forearm. More like a backwards letter "z" from hand to forearm than a nice flat line. It wasn't pretty. But, as per usual, I just went "ow" and then pulled on my hand- and I really had to pull- until everything slid back into place. And then I continued on just a little more gentler & cautious. EDS dislocations are more frequent, but they still hurt and still cause soft tissue damage. I did my best to let it heal, but I am right handed and I suck at taking it easy (until I hit a point where I just lay on the couch for a few days and don't move). After that, my right wrist just started dislocating and subluxing more easily. The little bones in my hand just do not stay in place. I am often gently pulling on my hand to get everything to wiggle back into place. A few months ago I got to a point where I cannot pick up a grocery bag by the handle without a full dislocation. If I pull on my hand, you can visibly see it move 1/2-1inch away from my forearm (no I will not do that for you). So, I went to my joint doctor and he was nice and confirmed "yes, your right wrist is definitely more lax than your left- but I don't know what to do so go see an orthopedic surgeon, in the mean time get a splint." So I got a custom splint from a Orthotics & Prosthetics place. Helps enough so that my wrist is stable enough at the end of the day (while still wearing splint) to pick up a full glass of water without popping out (which is an improvement). I found an ortho (and after entertaining myself by freaking out the resident- they are taught about EDS, but the first time they see it they just look at you like- WHAT?! he kept saying "I can't do that" um, yeah, that is the point) and because of EDS I am not a candidate for soft tissue reconstruction- as in when non-EDS people have laxity in a joint, the normal course of action is for an orthopedic surgeon to go in and "tighten/shorten" the ligaments. In EDS that is not an option- the ligaments are more fragile & stretchy, and also will most likely just stretch back out in 6mo-2yrs making the whole operation pointless. My only surgical option is to totally fuse my wrist. So that is a last resort. In the meantime, I have started physical/occupational therapy. I lucked out and got an awesome OT that is interested in the challenge. She is going to make me a better splint as the one I have is causing extra instability in my fingers. She also pointed out other instabilities in my hand that I didn't know were unstable (again, I thought that was normal!!)- for example when I make a fist each of the tendons that go on top of my knuckles sublux, some of them I can get to sublux in both directions (off to the side of the knuckle instead of staying on top). who knew?! I also like her, cause she didn't ask me to "show off" some of the instabilities we know about- like I can move my thumbs in near 360 degrees... yup, I can make it touch the palm side of my forearm, and the back side of my forearm (also, I will not show you this. Showing off just stretches things out & isn't good for me to do- I only do it when necessary for a doctor to look at a specific issue. I am not interested in being a circus performer, thanks). So OT will try to stabilize my wrist by building up the muscle a bit (which has connective tissue- so it is harder for me to build!). Some sort of test she did, showed my right hand/wrist is at 50% strength at the moment. That is where my wrist is now.

Thus ends your brief introduction to Ehlers Danlos. We've discussed what is going on with one of my joints. EDS also effects- ALL of my joints, all of my bones, all of my muscles, all of my tendons, all of my ligaments, all of my nerves, all of my organs, all of my vessels, my brain, my eyes, the way I digest, the way I absorb, the way I metabolize... it effects every cell in my body and how those cells interact with each other. Literally- my body is built differently. So while it is of course frustrating when doctors don't know exactly what to do with me or kick me out of their office or just down right refuse to even do a consult... you can kindof see why- they are taught to work with bread, I hand them bread pudding. Though I will say education & recognition are improving. I have been to doctors & given them a history that includes EDS and had them ask me "What is EDS?"... that hasn't happened in a while. Also, more docs are aware that they do not need to "re-diagnose" every EDS  person that walks in their door- as often EDS'rs we were basically asked to "prove" we had EDS with every new doctor- going through beighton etc and increasing damage on joints with every consultation... we are not circus performers!!

So thanks if you made it through this whole discourse. More another day.