Jump to content

Ehlers-danlos


firewatcher
 Share

Recommended Posts

I think it's important for eds to be diagnosed, both for our own safety. It's important for doctors to know that we may be more fragile than "normals". I think it's also important that it be recognized how prevalent and underdiagnosed eds is. If we all got appropriate diagnoses, it could help move research forward by showign that we're not so rare, getting more funding, and better understanding the connection between eds and dysautonomia. So in other words, it could save you in a pinch, but it can also help raise medical awareness, leading to better understanding and treatment.

Link to comment
Share on other sites

  • Replies 59
  • Created
  • Last Reply

Top Posters In This Topic

I'd get tested. I actually knew that I had EDS long before I knew that I had POTS and it was nice to know that even though I can't do anything about either, I finally had a name for what was happening with my body. There will be good days and bad with both conditions.

I've been super flexible for years and blacking out for years. I thought it was all normal, but I quickly learned that it wasn't when I finally mentioned it to my doctor. Also, with the actual diagnosis you can tell people that this is what you have. Telling people I was hypermobile didn't mean anything to them - to say I have Ehlers- Danlos Syndrome lends more creditably to what you have even though it's just a name (especially with Doctors). Also, getting tested means I can be certain I don't have the vascular type before I have children, as pregnancy is a big risk with that type. EDS patients also need to be treated differently. I would be a high risk pregnancy for example, and when I have stitches they have to be kept in place for twice as long.

Get tested. It's worth it to know what you have and it isn't invasive (unless they suspect you have the vascular type).

For example:

EDS explains these conditions: Recurrent Corneal Abrasions, TMJ, Shoulder Tendonitis, Sciatia, Trochenteric Bursitis, Snapping Hip Syndrome, Arthritis, Carpal Tunnel, DeQuavain's Tendonitis, Recurrent Fractures, ETC. It's just easier to say my EDS is acting up.

Sara

Link to comment
Share on other sites

It is VERY important to get thoroughly tested by a doc knowledgeable with EDS. EDS is more than just being flexible and having stretchy skin.

Many know of VEDS (vascular type) as being dangerous, but CEDS (classic type) can have some pretty dangerous symptoms as well.

I had an MRI that showed a slightly bulbous vessel in my neck. The radiologist did not think anything of it and did not tell my PCP. Well when I got copies of my MRI and brought to the NIH, I was told it needs to be followed. Aneurysms can occur with CEDS. No I am to get an MRI every year. Other dangerous symptoms are bowel ruptures, placental abruptions and so on.

I had an abruption, my mom had an emergency hysterectomy after nearly bleeding to death from period, my grandmother had a bowel rupture during preg and later died from surgery complications, my sister required transfusion after giving birth, a number of stillborns & MCs too.

If you join the EDNF, you can order a disk that details all of the issues that can occur w/ the different types of ehlers danlos. There is also important information re surgery. There are special techniques surgeons should use with a person that has EDS.

Please get checked ... and again, if possible go see Franomano or Nazli. Unfortunately just any geneticist simply is not enough ... and certainly rheumys often are not enough either.

Link to comment
Share on other sites

Dr. Claire Frankomano:

http://www.gbmc.org/genetics/harveygenetic.../francomano.cfm

Dr. McDonnell: is a geneticist who does research, I'm not sure you can get an appt. I was involved in her research study last April, and have two more appts. with the research.

http://www.grc.nia.nih.gov/branches/lci/nmcdonnell.htm

Dr. Brad Tinkle is my regular EDS doctor who is a geneticist MD PhD, and he's excellant. He's also involved in EDS research. He works with Cincinnati Children's Hospital.

http://www.cincinnatichildrens.org/svc/fin...brad-tinkle.htm

It's important to know if you have EDS. You can have vascular complications even if you don't have the type IV/vascular type. This is why they do the research, because there are crossovers of other types with type III/hypermobile , and classical. EDS can cause ANS dysfunction from poor vascular tone/ "blood pooling". EDS can cause chiari or chiari related conditions like cervical/cranial instability.

There's a woman who lives in my town who had the big "extreme home makeover" who has EDS. She had a stroke.

EDS is nothing to fool around with.

I have seen big people, skinny people-------all different shapes and sizes have various forms of EDS. When I was at the NIH study there was a 50 year old woman who was slightly overweight that had a very serious vascular form of EDS----and she had very little hypermobility.

I think a qualified EDS/connective tissue geneticist would be the doctor who is qualified to diagnose EDS.

I have seen three different geneticists, and all diagnosed the EDS. However, when I went to NIH, I was examined more extensively, and it was determined I have classical type with hypermobility, and vascular complications.

Maxine :0)

Link to comment
Share on other sites

Ok, I wasn't going to add this to my list of things to worry about, but after everything here I think it might be worth looking into.

I can do the thumb to my arm thing, and was previously very flexible. Now it hurts too much. But my daughter in her gymnastics class was able to go to a flat pancake split without ever trying. Everyone oohed and awed, but now I am concerned about this. I used to be able to do splits very easy. Almost no stretching required. I have a neck that "pops" all the time. It is very painful, and keeps going back to the same position. I also have shoulders that are messed up bad. I had a Dr tell me she specialized in sports injuries, and had never seen a shoulder that knotted. And when my husband massages it it pops over and over. I just keep hoping it will "fix" itself. Many other bones pop too. But the part that bothers me the most is the vasculitis type that has been mentioned. I have 3 valves in my heart that leak. Does this sound like I should look into this? can leaky valves be an indicator of this? Thanks

Suzy

Link to comment
Share on other sites

Hi Mkoven,

Thanks for answering. Who should I start asking? The doctor who diagnosed pots? Or just call a specialist on my own?

Thanks

Suzy

Link to comment
Share on other sites

Guest brianala

My mother has A-fib and recently suffered a stroke. Shortly after an arteriogram revealed she has a cerebral aneurysm. I wonder what the chances are that she's got some form of EDS? Some of the other symptoms seem to fit. I'll bring it up with her neurologist when we go to Shands next week.

I also have several symptoms, so I'll see if I can get checked out for this as well. If I couldn't get up to see a specialist, what kind of doctor is most likely to be able to help? A cardiologist? Neurologist? Someone else?

Link to comment
Share on other sites

You need an EDS doctor. See a geneticist who specializes in connective tissue diseases----I mentioned three of them in my other post----and two of them currently see patients. Or visit EDNF.org and look under physician's directory for your area.

I edited out some of the gab.......... :lol:

http://www.ednf.org/index.php?option=com_s...p;limitstart=25

Maxine :0)

Link to comment
Share on other sites

Thank you. I will have to find something close, but gives me somewhere to start.

Suzy

Link to comment
Share on other sites

EDS is autosomal dominant - a person can't be a carrier. if you have it, it will be expressed, and there is a 50% chance of you passing it on to your children. it does express itself differently in people who are affected, though - my mother is hypermobile, and has had many more problems than me with some of the secondary complications of EDS, but has never had a problem with recurrent injuries/subluxations like I have had (she's less hypermobile, as well).

Link to comment
Share on other sites

yes-- but sciatica is also very common in the general population. But if the cause is an unstable

back, or prolapsed disc, edsers may be more prone. I have had sciatica over the years and it is NO FUN. I have had back surgery--also NO FUN. Bad discs, sloppy pelvic joints, tight psoas.

Link to comment
Share on other sites

Everyone's pretty much covered this, BUT the most important reason to get an official DX is to rule out VEDS (aneurysm issues.) Seeing a geneticist that specializes in connective tissue disorders is a great idea. Ruling out VEDS is a simple blood test- ordered by a geneticist. Hope you've done this jjb!!!

Getting a referral to a geneticist can be a bit involved. In my case, my son's ped at Hopkins strongly suspected VEDS due to a family history of many aneurysms/dissections. I was unable to simply make an appt- not because my insurance prevented it- but because Emory wouldn't even consider us without letters of recommendation. Dr. Rowe wrote a referral letter for my son. I, then had to get my PCP to do the same. Taking a letter from your pilates instructor to your PCP may be helpful.

The whole genetics thing is a journey. Once we saw Dr. Paul Fernhoff at Emory, then we had to begin persuading the insurance company that we needed various tests. The VEDS test can only be done at a few labs in the country. Lots of hoops to jump through. We saw the geneticist last June. I will get results of the secong set of blood testing by April 15th of this year. Things move quite slowly. If several tests are recommended by your geneticist. They have to be run consecutively, not concurrently- insurance regulations. AND, our insurance co, UHC, has required mounds of paperwork. I'm not trying to dissuade you, just want to warn you.

Best of luck!

Julie

Link to comment
Share on other sites

Last night before i went to sleep i read this post. Reading about the vascular EDS typ scared the living daylight out of me. After so many doctors appoinments in the past, iam quiet content with my POTS Diagnosis now and i never thought about searching about other illnesses that might come with POTS. I saw 2 different POTS specialists which testet me for hours, they never told me that it is necessary to get checked out for EDS. In fact when i saw my "all time favourite" POTS specialist in November, i remembered reading about EDS on the Dinet homepage and therefore mentioned, that i can bend my legs quiet much and that my sister and my daughter can do scary things with their hands and fingers by bending them back. He also knows about my mild Mitral valve prolaps.

I couldnt sleep well last night because i wonder if my mild Mitral valva prolaps means that i have the vascular type of EDS? I got checked out so often before i was diagnosed, had scanns of almost everything in my body. My MVP is nothing to worry about is what every doctor said so far. What should i do now? What other symptoms come with this form of EDS? i have no joint problems at all, so i dont really know what to do now? After 10 years of searching whats wrong with me and finally finding a Diagnosis i already adjusted to mentally, do i now have to start searching again? Sorry about this negative post, but reading about the vascular EDS is the first news since i got diagnosed 1,5 years ago, that really got to me. POTS isnt life threatning, we all know that, that is what makes all the difference for me. Whenever i get symptomatic i can tell myself that nothing bad is going to happen, with this EDS typ though, its all different, and i catch myself worrieng about getting a stroke now. I dont like that and it scares me because before i got diagnosed this was my main concern and i was so relieved when the POTS specialists and all the other doctors told me that there is no reason for me to worry about something like that. That was the news that made all the difference for me, i got my self confidence back and i didnt worry anymore. Reading this post changed it now and i dont know what to do.

carinara

Link to comment
Share on other sites

Vascular eds is actually the easiest one to rule out, as it can actually be tested for. Most of the other types are diagnosed clinically. I don't know who would be good in Germany. I would check out www.ednf.org and see if they have any resources. The other types need to be taken seriously, but people generally live normal length lives. and some people are diagnosed with eds and have relatively mild issues...but it is still worth pursuing, both for your own peace of mind, and because it may change your treatments and any other testing-- and not only for pots. It is unfortunate that there aren't more knowledgeable doctors around. Maybe you could be in contact with either Nazli McDonnell or claire Francomano and they could tell you who to see in Germany? I'm sure they have international connections. It helps me to have an explanation for all my different issues--otherwise I also was beginning to think I must be a hypochondriac!

Link to comment
Share on other sites

I have a niece with Marfan's. Are these related?

YES, YES, YES! Marafans is also a connective tissue disorder with possible aortic complications. I'm sorry if I'm repeating myself, but I just had VEDS ruled out and now I'm being tested for something similiar (blood test) called Loeys-Dietz Syndrome. Patients are also at high risk for anuerysms/dissections. Loeys-Dietz is simply explained as being "in between" Marfans and VEDS.

And, if it makes anyone feel better, I am not hypermobile, neither is my son. However, he's subluxed his head/neck sevreal times, and popped his sternum. We've both had major ankle, shoulder issues. There is much overlap between all of the types of EDS. But, only if you have specific symptoms and/or a personal or family history of aneurysm/dissection do you need to worry about VEDS.

Some of the VEDS indicators are very pale skin with highly visible veins, easy bruising, history of hernias, gum recession, hypermobility only in the hands and feet, premature aging of the hands and feet, small chins, large protruding eyes, thin nose and lips. Any orthostatic intolerance can be indicative of some type of EDS (not necessarily vascular type.)

I have some of the above indicators, but a STRONG family history. My father mysteriously and suddenly died when I was 2 y/o. An autopsy wasn't possible. One of my brothers suffered an aortic aneurysm in his 20's, another brother spontaneously had his cartoid artery dissect in his early 30's. Miraculously, both of my brothers lived.

Don't overly worry unless you have lots of these symptoms/indicators. If you do, check it out! That'll put your worries to rest :-)

Julie

Link to comment
Share on other sites

Join the conversation

You can post now and register later. If you have an account, sign in now to post with your account.

Guest
Reply to this topic...

×   Pasted as rich text.   Paste as plain text instead

  Only 75 emoji are allowed.

×   Your link has been automatically embedded.   Display as a link instead

×   Your previous content has been restored.   Clear editor

×   You cannot paste images directly. Upload or insert images from URL.

 Share


×
×
  • Create New...