QuestionQUESTION: I went to a genetic doc in 2008 to see if I had this disorder. She tested me on the Beighton Scale and I think I was 6 or 7 out of the 9. I was 21 at the time, I am now 24 and I feel like I am 80. Over the last 6 months I have had more problems than I could ever imagine and I am starting to think that I was misdiagnosed and might have the classical EDS, I show many traits for the hypermobile type but my other symptoms lead me to think classical. I have an appointment and want to have as much information as I can. I did not mention many of my issues in the past to her because I had NO idea they could be related. I wanted to speak with someone before I went to talk to her.
Here is my medical history -- its really long, you would never think it, I am extremely fit because low impact exercise is the only thing that gives my muscle spasms and neck any relief, and if I dont exercise I hurt much more because of the loss of muscle to stabilize my joints.
* knees hyperextend ?sprained once or twice
* very sensitive skin break out easily and poor/odd wound healing, scabs disentegrate when wet
* exercise induced asthma (pine trees especially) ?this has developed in the last few years
* Allergies (strawberries, pollen, bees, mosquitos- swell up with huge welps)
* reynauds symptoms, never clinically diagnosed?very sensitive to cold, lips, feet, hands turn white/purple color, and go numb (had to get compression hose)
* 揵lack-out?frequently when stand up too fast (only a few times have I completely passed out)- even
when younger)- they did a neurological study because it was so bad
- now so bad that when I am at gym doing squats and come up too fast I 揵lack out?but not pass out
* pass out when nervous ?when blood taken, contacts put in eyes, cast taken off arm, passed out when I got my wisdom teeth x-rays
* dry eyes
* astigmatism
* torn ligaments in ankle all three at one time, chronic sprains now
* cysts (ganglion in wrist), nodules behind ears
* very poor wound healing ?especially on shins and hands
* scoliosis (S curve with some rotation) (55 degrees on top to right/45 degrees to left on bottom) ?* surgery in 2001 - now one of the rods is not in the right place any more, its to the side of my spine because it did not fuse correctly, need to have surgery but also need to see if have EDS before they take it out
* shoulder ligament slight tear (AC ligament) ?did not see till recent Xrays compared to old ones
* plantar fascitis ?chronic ?last 3 years, tore left one a few months ago
* Seasonal Affective disorder
*Severe ADD seeming to get worse because so distracted by pain
* chronic sinus infections
* low blood pressure
*torn scapular muscles (rhomboid) - severe scapular winging on the right
*chronic elbow dislocation ?led to surgery and fusion
*Wrist began dislocating last year after playing tennis, would have to sling it around till it popped back into place ?the other day did it opening the fridge
* hip began slipping in June-July 2010 ?hurts all of the time now, slipped the worst yesterday when walking around a store
***WORST PAIN I HAVE** → Neck and upper back...I have severe severe neck pain above my spinal fusion, went to many doctors they said to do physical therapy but I work in a physical therapy gym as a tech and do exercises the PT's describe every day, feel like one of the vertebrae slips, I can take hand down side of neck feel it and push till it 搇ocks?back into place, the nerve pain stops after that
I am writing because I want all of the educate possible before I go see my back surgeon. If it is true that I have EDS than the surgery will get much more complicated. I have had many second and third opinions and they say surgery is only option to stop nerve pain from the rod pinching my trapezius muscle
** also random side note, found one large tumor on thyroid, both cystic and tumorous of nature (2cm x 1cm) as found on an ultrasound, biopsy showed benign have to keep monitoring...found it during an MRI in July for my neck and back nerve pain
ANSWER: Sorry for the delay in getting back to you. This is a pretty long question and I want to give it a good response and I didn't have the appropriate amount of time yesterday.
> I went to a genetic doc in 2008 to see if I had this disorder. She
> tested me on the Beighton Scale and I think I was 6 or 7 out of the
First, there are multiple types of EDS, as you have read. If they were only testing using the Beighton scale, then they were really only testing for whether or not you have some form of hypermobility.
Here is a link to the different genetic tests you can request:
http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome/show/Gene+Tests
> I am starting to think that I was misdiagnosed and might have the
> classical EDS, I show many traits for the hypermobile type but my
> other symptoms lead me to think classical.
Did they give you a diagnosis or just tell you that you didn't have EDS? If they said you don't have EDS or any other hypermobility-producing syndrome, I would get a second opinion, definitely. If they said Hypermobility and you are thinking Classical, then that's probably not worth getting more testing unless you want to rule out Vascular EDS.
The reason I say that it's not necessarily worth further testing for type if you have an EDS diagnosis already is that there is a HUGE amount of overlap of symptoms between the various types. You could see three different docs and get three different types based on symptoms because the diagnosis of type can be pretty subjective, with the exception of the DNA testing. Even the DNA testing for Classical type only shows positive about half the time in people believed to have Classical EDS.
> I have an appointment and want to have as much information as I can.
That's really important. Contact EDS Today www.edstoday.org and EDNF www.ednf.org for additional information. They can both send you different educational material to take with you.
> I did not mention many of my issues in the past to her because I
> had NO idea they could be related. I wanted to speak with someone
> before I went to talk to her.
Depending on the geneticist, they may not think your list of symptoms is related. In fact, it may be hard to be sure in some cases. For example, let's say that 50% of people with EDS also experienced X disorder/symptom. If that disorder were common and 50% of the general population also had X, then you can't really blame EDS for X because it appears in EDS at the same rate as the general population. On the other hand, maybe 75% of people with EDS also have Y symptom/disorder, but Y only appears in the general population 10% of the time. You could believe that Y is a symptom of EDS.
So, the best thing to do is list ALL your symptoms. Some might be considered EDS related and others might just be bad luck. Whether the geneticist considers them EDS related depends a lot on how much the geneticist knows about EDS. If you've got someone who works with EDS patients a lot, then you have a good chance they'll connect the dots. If you're unlucky like I was to have someone who only has a vague understanding of the basics, then they won't look beyond the hypermobility issues. So, before your appointment, find out more about the doc and how much he/she knows about EDS.
> knees hyperextend ?sprained once or twice
Could be EDS, Marfans, Sticklers or past injury.
> very sensitive skin break out easily and poor/odd wound healing, scabs disentegrate when wet
> Could be a lot of things. "Cigarette paper scars", however, is a characteristic of EDS.
> exercise induced asthma (pine trees especially) ?this has developed in the last few years
Asthma is frighteningly common now. I have it too. Is it EDS related? Maybe, but it's harder to prove because asthma is on the rise in the general population.
> Allergies (strawberries, pollen, bees, mosquitos- swell up with huge welps)
Not so familiar with this one.
> reynauds symptoms, never clinically diagnosed?very sensitive to cold, lips, feet, hands turn white/purple color, and go numb (had to get compression hose)
Lots of people with EDS have complained about this, but I don't know of any linked research on the two.
> 揵lack-out?frequently when stand up too fast (only a few times have I completely passed out)-
Are you sure you aren't my younger sister? I have had this a lot. This one has been studied and linked to EDS in the last decade. It's called Postural Orthostatic Tachycardia or POTS. There is an article that was reprinted in EDS Today that shows a link between EDS, POTS and Chronic Fatigue Syndrome. Also called, Orthostatic Intolerance, this is currently one of the things being researched at the National Institutes of Health in their EDS Study.
> dry eyes
Don't know about this one.
> astigmatism
Myopia (near sighted) is linked to EDS, but I don't know about the astigmatism. (I have it though too!)
> torn ligaments in ankle all three at one time, chronic sprains now
Ouch! Could definitely be linked.
> cysts (ganglion in wrist), nodules behind ears
Lots of EDS people have the ganglions.
> very poor wound healing ?especially on shins and hands
Definite potential EDS sign
> scoliosis (S curve with some rotation)
Definite potential EDS sign
> plantar fascitis ?chronic ?last 3 years, tore left one a few months ago
Could be, but I don't know of any link on this one.
> Seasonal Affective disorder
Not sure of a studied link here. However, SAD is something I do know a bit about because my mom has it. She does not have EDS though. Best advice on SAD is lots of vitamin D during the winter. It changed her life!!!
> Severe ADD seeming to get worse because so distracted by pain
Might or might not be related.
> chronic sinus infections
Might or might not be related.
> low blood pressure
This is something the NIH has observed in their EDS research. Not sure if anything is published on this, but I do know it will be when NIH finishes their study.
> ***WORST PAIN I HAVE** → Neck and upper back...I have severe severe
> neck pain above my spinal fusion, went to many doctors they said to
> do physical therapy but I work in a physical therapy gym as a tech > and do exercises the PT's describe every day, feel like one of the > vertebrae slips, I can take hand down side of neck feel it and push > till it 搇ocks?back into place, the nerve pain stops after that
Sounds like all the other folks with EDS - same story over and over from lots of people.
> I am writing because I want all of the educate possible before I go > see my back surgeon. If it is true that I have EDS than the surgery > will get much more complicated. I have had many second and third
> opinions and they say surgery is only option to stop nerve pain
> from the rod pinching my trapezius muscle
Do lots of research before surgery. It should be last resort as there are numerous complications that can arise. Often, fixing one issue just transfers the instability from that point to the points above and below - i.e. fix the thoracic spine and you get lumbar and cervical spine issues; fix the knee and you get elbow/ankle problems.
The people I know who have done many surgeries regret it now. But I am not a doc, so don't take my word for it. Ask people with EDS who have had surgeries about their experience. There are several online groups on yahoogroups.com where you can talk to people with EDS before you decide. CEDA and EDSers are the best.
> also random side note, found one large tumor on thyroid, both
> cystic and tumorous of nature (2cm x 1cm) as found on an
There was talk a few years back about a potential study on EDS and auto-immune disorders like thyroid disease. I never heard that they actually got the study going though. I am hypothyroid and so are other people with EDS, but again it depends on the comparison to the general population and I don't think it's been studied.
So, my advice to you is:
1) Make sure the doc you see actually knows about EDS
2) Contact EDS Today and EDNF to get all the information you can
3) Join an online support group to learn all you can
Good luck!
---------- FOLLOW-UP ----------
QUESTION: Do you know if low body temp. is correlated at all to EDS? I have the Hypermobility diagnosis now, but I really see so many of the "classical" type in my medical history? I know they can overlap. I found an article about tenascin X (not sure if spelled correctly) deficiency and overlap in the two. I put the link on my website
edsshegetitfromhermomma . blogspot . com
AnswerI've not read about body temp being connected to EDS, but I know MANY people with EDS, including me, do have a lower temp. I believe this is something that will come out when NIH publishes their research. In my case, it's hard to know if the low temp is related to the EDS or hypothyroid, which also has low temp as a related issue.
The symptom overlap is common. It's more rare for someone with EDS to not have overlap in symptoms from multiple types.
Congrats on your blog. I wish you good luck.
I forgot to add one more resource in my original reply. Check out EDS Network Cares. They are a new EDS non-profit run by dedicated volunteers. Their primary focus is raising money for EDS research and they're going to do great things.
-Barb
