Talk to me about Ehler-Danlos

[MedicMom]

The orthopedic surgeon yesterday suggested I consider getting tested for it. I've had a corneal transplant due to kerataconus(which is where the connective tissues in the cornea break down and become too loose), a uterine rupture with no reason why, a mitral valve prolapse, and many many many ankle and knee and wrist sprains that are now requiring surgery. Sometimes my jaw randomnly dislocates as well. Plus I bruise so easy and always have an underlying infection of some sort. This has all been life long; I just deal with it and assumed I was unlucky--I never considered an underlying reason.

 

I am not hyperflexible though. Nor is my skin paper thin.

 

Is it worth seeking a diagnosis? Can you even have it without hyperflexibility? I am 36 next month, if that makes a difference.

Edited September 23, 2017 by MedicMom

[Barb_]

What are the drawbacks of diagnosis? Is it painful or time consuming? Is it expensive? What are you hoping to gain from it? Will you be able to treat it or do anything differently? Will you have your children tested if you come up positive?

 

ETA My daughter's boyfriend has it but I'm not aware of anything he does to treat it.

Edited September 23, 2017 by Barb_

[Starr]

I've always thought more information is better in health care. This week if the care doesn't change I think about the potential problems with insurance and pre-existing conditions. It makes me sad and anxious.

[MedicMom]

It's just a genetic blood test from my understanding. I am concerned about establishing a serious and complicated pre existing condition.

 

From my understanding it's all just palliative care.

 

I am considering testing so that (a) medical professionals know what to consider when I show up with another weird symptom and (b) maybe my husband won't be constantly so annoyed about my weekly joint sprains.

Edited September 23, 2017 by MedicMom

[Barb_]

I've always thought more information is better in health care. This week if the care doesn't change I think about the potential problems with insurance and pre-existing conditions. It makes me sad and anxious.

That's true. I didn't think of that, but very true.

[Barb_]

It's just a genetic blood test from my understanding. I am concerned about establishing a serious and complicated pre existing condition.

 

From my understanding it's all just palliative care.

 

I am considering testing so that (a) medical professionals know what to consider when I show up with another weird symptom and (b) maybe my husband won't be constantly so annoyed about my weekly joint sprains.

Maybe you forgo it then until we have a pretty good idea which way the wind is blowing on healthcare. If you show up with a weird symptom you can say, "my orthopedist suspects Ehler-Danlos but I've not been formally diagnosed." That way you can add that piece of the puzzle without commitment.

[Lizzie in Ma]

It's just a genetic blood test from my understanding. I am concerned about establishing a serious and complicated pre existing condition.

 

From my understanding it's all just palliative care.

 

I am considering testing so that (a) medical professionals know what to consider when I show up with another weird symptom and (b) maybe my husband won't be constantly so annoyed about my weekly joint sprains.

 

The hypermobile variety has no genetic test as yet.  I have that version as do my kids.  For me it's always been chronic pain, especially neck and shoulders.  For Both my kids it is accompanied by co-morbid conditions, (POTS for one and Mast cell activation for the other).  Youngest has sublux issues with shoulders and ribs. They are learning it is a multi-systemic issue at long last.  The part that sucks is there is no treatment.  There are only things to manage it's issues.  We were diagnosed two years ago.  I never knew I had it.  We take Maitake mushroom complex (Cusak protocol) and it seems to make major issues happen less often.

 

http://ohtwist.com/eds-resources/

[displace]

There are other connective tissue disorders, not just ehler danlos. If you have it, you want to know about the diagnosis in case there are other symptoms you need to be screened for regularly. Plus, it's heritable, so for your kids too.

[Barb_]

I don't want to hikack your thread, medicmom, so I started a new thread about kids with genetic diseases growing up to have children. If anyone could offer input over there I'd appreciate it.

 

http://forums.welltrainedmind.com/topic/658685-your-kids-with-genetic-disease-having-children/

Edited September 23, 2017 by Barb_

[Guest]

There is a range of severity in how it is expressed. It can be a not-big-deal or a pretty-big-deal, depending on the expression and comorbidities, but as a condition it's one I'd rather have than a whole lot of other ones.

[klmama]

Lizzie, thanks for sharing this site.  Do you know what the polysaccharides do to help?  I didn't see any explanation.

 

ETA:  Found the explanation here: 

 

 

The hypermobile variety has no genetic test as yet.  I have that version as do my kids.  For me it's always been chronic pain, especially neck and shoulders.  For Both my kids it is accompanied by co-morbid conditions, (POTS for one and Mast cell activation for the other).  Youngest has sublux issues with shoulders and ribs. They are learning it is a multi-systemic issue at long last.  The part that sucks is there is no treatment.  There are only things to manage it's issues.  We were diagnosed two years ago.  I never knew I had it.  We take Maitake mushroom complex (Cusak protocol) and it seems to make major issues happen less often.

 

http://ohtwist.com/eds-resources/

 

Edited September 23, 2017 by klmama

[gardenmom5]

my sister has been diagnosed with ED - she does have hyperflexibility in her fingers.

I haven't talked to her about it much, but I have read there are different forms, and not all require hyperflexibility.

I would pursue a diagnosis, as it can give a better understanding of how to do things that will help.

[Butter]

EDS is fun!  We're a parlor trick.  A sometimes painful parlor trick.

 

Seriously, though, if it would help for proper medical care, get diagnosed.  I have mild EDS.  My daughter is much worse than me and has POTS, too.  My uterine prolapse and subsequent hysterectomy a couple years ago were likely EDS related.  There's not really much they can do for EDS (other than managing issues as they come up), but for my daughter the actual diagnosis helps a lot in getting the insurance company to approve the physical therapy sessions she needs.  Without the EDS diagnosis they likely would not allow as many as they do.

[Irish]

the timing of this thread is perfect as my 20 yo dd goes to see a Physiatrist on Monday regarding EDS. I'll be checking out the links before then! thank you all.

[AngieW in Texas]

It took us five years to get the diagnosis. We had to go to a geneticist for it. Since they don't know the genetic markers for the hypermobile type yet (the kind my 19yo has), it is diagnosed off of a physical exam and medical history (lots of ruling out of other things). A got the diagnosis at 17yo. Having the diagnosis has been helpful. A got a medical accommodation for air conditioning (because A's blood pressure drops like a rock when the temp goes up) and for an ESA. We are actually training a puppy right now to be a mobility service dog. Having the diagnosis helps a lot with doctors because they tend to want to dismiss everything as being due to anxiety (frequently comorbid with EDS). We have a good batch of doctors right now who actually know the disease and have at least a basic understanding of it. Most doctors have only heard of it and never actually seen a patient with it. Because of the diagnosis, A was able to get more physical therapy and occupational therapy and speech therapy (for vocal chord dysfunction).

 

There are other types aside from hypermobile. A does not have paper thin skin and the skin isn't super stretchy, but it does take forever for the skin to heal. A is decidedly hypermobile though and dislocates multiple joints on a daily basis, even on a good day.

[Lizzie in Ma]

It took us five years to get the diagnosis. We had to go to a geneticist for it. Since they don't know the genetic markers for the hypermobile type yet (the kind my 19yo has), it is diagnosed off of a physical exam and medical history (lots of ruling out of other things). A got the diagnosis at 17yo. Having the diagnosis has been helpful. A got a medical accommodation for air conditioning (because A's blood pressure drops like a rock when the temp goes up) and for an ESA. We are actually training a puppy right now to be a mobility service dog. Having the diagnosis helps a lot with doctors because they tend to want to dismiss everything as being due to anxiety (frequently comorbid with EDS). We have a good batch of doctors right now who actually know the disease and have at least a basic understanding of it. Most doctors have only heard of it and never actually seen a patient with it. Because of the diagnosis, A was able to get more physical therapy and occupational therapy and speech therapy (for vocal chord dysfunction).

 

There are other types aside from hypermobile. A does not have paper thin skin and the skin isn't super stretchy, but it does take forever for the skin to heal. A is decidedly hypermobile though and dislocates multiple joints on a daily basis, even on a good day.

 

We are doing the same thing with our puppy!  Also for anxiety issues.  Any tips, links, etc? 

[HollyDay]

EDS can have aorta implications as well.

[Matryoshka]

As others have mentioned, they don't have a genetic test for the hypermobility type (the most common), but they do for all the other (many) types, so especially if you don't think you have the hypermobility type, a genetic test could be very useful.

 

My dd19 also has the hypermobility type.  She has frequently subluxing joints, pain, mast-cell activation problems, POTS-like symptoms (though apparently not full-blown POTS).  She also has degenerated discs in her lower back.  At 19. 

 

I'm beginning to be surprised doctors have never seen anyone with this.  Since dd got her diagnosis and I've been aware of what this is, seems like I'm seeing it everywhere.  Lots of people here on WTM have it.  Someone just got into the top 4 on America's Got Talent that has it.  Dd seems to keep meeting people left and right that have never known what was wrong, but they start on a list and she says ohhhh... EDS.  I'm starting to think it's a lot more common and just frequently missed, because all the individual symptoms make no sense unless you finally realize the underlying cause.  And as someone else said, it's frequently comorbid with anxiety and the symptoms can be so varied and diffuse, so it's so easy for doctors to say it's all in your head.  Dd sees an amazing PT who specializes in EDS and has given her references to lots of EDS-friendly doctors.

[Lawyer&Mom]

Without the Internet I'd have no idea EDS existed. I'm pursuing a diagnosis now, but it isn't easy with mild hypermobile. At the very least I want a new look at my mitral valve prolapse. It was diagnosed as mild in my mid twenties, but now I know EDS-related issues can get worse with age! (Definitely feeling my joints getting looser as I approach 40.)

[AngieW in Texas]

We are doing the same thing with our puppy!  Also for anxiety issues.  Any tips, links, etc? 

 

We have worked with a local dog training facility that does training specifically for service dogs. A went to a workshop this summer on training your own service dog that they held. Aspen isn't ready yet for the service dog training because she is still a puppy. She has completed a puppy obedience class and has one more class left in Introduction to Rally. The rally class has been very useful in terms of learning more precise control over moving her around. Rally is a moving obedience class. 

[TravelingChris]

I and both of my daughters have some sort of heridatary hypermobility but it isn't Ehlers-Danos and the orthopedist researcher and my rheumatologist agree that they just haven't identified all forms and the orthopedic researcher said he had met at least two other families like mine.  Ours includes more sprains and for my girls,  lots of subluxations and dislocations particularly for my youngest, and more fractures too.  I know that I and youngest form keloids and I think my other daughter does too. 

[mom2scouts]

A friend's young adult daughter was recently diagnosed with EDS. She seemed healthy as a child and has developed several severe health problems in the past few years. Her doctor told her that sometimes something happens that causes a "cascading of symptoms". If I were you, I would want to know.

 

I and several of my children have extreme hypermobility and we just learned that it is one of the symptoms of EDS. I've had several knee dislocations and one of my children just had a really severe joint injury requiring surgery from subluxation. He wasn't doing much more than walking at the time of the injury, and my friend thinks we should learn a bit about EDS just in case.