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Fri Apr 24, 2015, 08:01 PM

Newly diagnosed with Ehlers-Danlos Syndrome...

... a genetic collagen disorder that can affect nearly every system in the body. For me it's mostly joints, tendons, GI, & neurological.

Half glad I finally have a name and proof of what's been going on with me for so many years, half freaked because there's not really any treatment and it will likely continue to get more and more debilitating. And sad 'cuz it looks like I passed it on to both my kids.

Just needed to put it out there, since I'm doing that whole 'brave face' nonsense for my family.

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Arrow 24 replies Author Time Post
Reply Newly diagnosed with Ehlers-Danlos Syndrome... (Original post)
DeadLetterOffice Apr 2015 OP
RGinNJ Apr 2015 #1
DeadLetterOffice Apr 2015 #2
dixiegrrrrl Apr 2015 #3
DeadLetterOffice Apr 2015 #4
2theleft Apr 2015 #5
Holly_Hobby May 2015 #6
DeadLetterOffice May 2015 #7
Holly_Hobby May 2015 #8
DeadLetterOffice May 2015 #9
Seeinghope Jun 2016 #15
DawgHouse Jun 2015 #10
DeadLetterOffice Jun 2015 #11
pnwmom Aug 2015 #12
DeadLetterOffice Aug 2015 #13
pnwmom Aug 2015 #14
Seeinghope Jun 2016 #16
DeadLetterOffice Jul 2016 #19
Nac Mac Feegle Jul 2016 #17
DeadLetterOffice Jul 2016 #18
Nac Mac Feegle Jul 2016 #20
DeadLetterOffice Aug 2016 #24
mopinko Aug 2016 #21
Paula Sims Aug 2016 #22
DeadLetterOffice Aug 2016 #23

Response to DeadLetterOffice (Original post)

Fri Apr 24, 2015, 08:20 PM

1. I really am sorry for you and your kids.

Keeping a brave face is hard. I hope you have a great mental support group and also the best Doctors you can afford.

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Response to RGinNJ (Reply #1)

Fri Apr 24, 2015, 08:29 PM

2. Thanks RG.

I'm lucky -- I have good friends and an awesome spouse.
My primary care doc of 20 years doesn't know much about EDS but has agreed to learn all he can so he can case manage the healthcare for all three of us. And I have a good orthopedics doc that I trust. Monday I start looking for a physical therapist who's well-versed in connective tissue disorders.
It's all just a wee bit overwhelming, but I'm sure that will get better with time to adjust to it.

Have a great night.

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Response to DeadLetterOffice (Original post)

Fri Apr 24, 2015, 09:06 PM

3. I just read up about it.

So sorry it is genetic.
Do you know what type you have?
or you can you have more than one type?
Looks as if treatments are still in the learning stage?

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Response to dixiegrrrrl (Reply #3)

Fri Apr 24, 2015, 10:47 PM

4. We've got the hypermobility subtype.

Which is the most common of the 6, and thankfully doesn't involve the really fun stuff like major organ rupture or high risk of arterial bleeds. Gah.

Treatment is basically symptom-based -- treat each thing as it occurs. There is some bracing that can be done to minimize further tendon injuries and to stabilize joints to reduce dislocations.

Really it's having a name, and an explanation, for what's been going on for years. And a chance to maybe help my kids be better prepared to deal with however it manifests for them.

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Response to DeadLetterOffice (Original post)

Wed Apr 29, 2015, 10:03 PM

5. I had never heard of that until recently when I learned..

a lady that works for me has it. She has a mild case (I can't remember if the right name for her type) fortunately, but talking to her, I really feel for you and your daughters. She said there was one one benefit...a super easy delivery since the tendons and such stretch so much... She is also lucky in that she didn't pass it on to her daughter.

I'm glad you have a diagnosis and your doctor is going to learn about it. Are there specialists for it? If you want, pm me. I would be happy to ask my coworker any questions you might have of someone who actually has it.

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Response to DeadLetterOffice (Original post)

Sat May 9, 2015, 11:50 AM

6. I hope the best for you and your kids...

I've suspected I have this condition for many years, but most doctors don't know anything about it and have no idea what kind of specialist could diagnose it. What kind of specialist diagnosed you? Thanks

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Response to Holly_Hobby (Reply #6)

Sat May 9, 2015, 05:33 PM

7. I saw a genetic counselor to diagnose.

Was referred to the genetics counselor by my GP after I said "Hey, I think I might have this and I think the kids do too." He looked over some info at the Ehlers Danlos National Foundation and said "yeah, you just might" and gave me the referral, no hassles.

The hypermobility subtype has no genetic test to confirm, it's all diagnosed by extensive family and personal history and some flexibility testing.

We're all going off to see an EDS geneticist in Rochester this summer to conform the subtyping and find out what we should be doing from here out in terms of cardiac tests etc.

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Response to DeadLetterOffice (Reply #7)

Sun May 10, 2015, 07:07 AM

8. Ok, that makes sense...

I'm going to pursue this with my doctor - they've missed something with me all these years and I'm determined to find out what it is.

Good luck to you and your family, thanks for replying.

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Response to Holly_Hobby (Reply #8)

Sun May 10, 2015, 10:41 AM

9. Good luck!

I hope you don't have it, but I also know how validating it is to finally have a name for all the weird shit that's been plaguing me for years, so if you DO have it I hope they can confirm it for you.

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Response to Holly_Hobby (Reply #6)

Wed Jun 8, 2016, 06:36 PM

15. They say a geneticist is the best person to diagnose. I actually did a lot of research on my own

 

And tried to see some doctors, starting with Rhematologists. And did not get anywhere. Finally I found someone in my area and they diagnosed it for me.

I don't know where you live but your teaching hospitals are usually up to date and have the best medical knowledge.

There is also a National group of Ehler Danlos Syndrome that can point you into the right direction as far as medical care.

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Response to DeadLetterOffice (Original post)

Wed Jun 24, 2015, 12:24 PM

10. I have not heard of this but I am glad you got a diagnosis.

It's sometimes a relief to finally know what is going on!

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Response to DawgHouse (Reply #10)

Wed Jun 24, 2015, 01:06 PM

11. It really is.

A couple months in now and the blatant relief of finally having a diagnosis has morphed into a little more fear and anger about how limiting this thing really can be and what my future may look like. But the truth is nobody knows what the future will be, we just like to pretend we do -- and I get to dispense with that fantasy. Life happens as it will, and not as I would necessarily have it, and that's ok.

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Response to DeadLetterOffice (Original post)

Mon Aug 17, 2015, 03:53 AM

12. So sorry, DeadLetterOffice.

One of our children has a serious condition that might be genetic -- we still don't know. And the idea is devastating that we might have given it to her.

I'm sorry you have to live with the burden of your disease on top of worrying about your kids.

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Response to pnwmom (Reply #12)

Mon Aug 17, 2015, 07:29 AM

13. Try not to do the guilt trip

Speaking as both an inheritor and a passer-on of this thing...

My mom feels wretchedly guilty about passing this on to me, even tho we didn't know she had it until now. And frankly it drives me nuts -- it's not like she chose to give me EDS! She has nothing to apologize for, and it's hard for me to handle having to reassure her while I'm struggling with my own emotional reactions to being chronically impaired.

I try to keep this in mind when I think about passing it on to my boys. I didn't knowingly do this to them, I would NEVER knowingly do this to them, and it's not my fault. At least they have a parent who believes them, and understands, and can be knowledgeable about what they're facing.

So support your daughter every way you can, but don't feel guilty. She's not going to blame you, and you shouldn't blame yourself, either. Life is what it is, and we just get to react.

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Response to DeadLetterOffice (Reply #13)

Mon Aug 17, 2015, 01:46 PM

14. Thanks, DLO

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Response to DeadLetterOffice (Original post)

Wed Jun 8, 2016, 07:00 PM

16. I am glad that you finally got a diagnosis. For me it connected all of the dots.

 

Even dots that I didn't know we're going to get connected. It is something that can affect just about all aspects of your life. My EDS is mainly the hypermobility type. It isn't as severe as what I have heard of others. You need to research because that will be your best friend. The doctors just don't have the time or they don't realize how many ways that you can and are affected. For instance. For myself.

My skin is stretch, I sunburn easily, sunstroke, sun poisoning..heatstroke. I don't tolerate heat very well in general. My eyes are sensitive to the light. I scar easily. I can form scar tissue easily from surgery. I bruise easily, I am harder to sedate for surgery. I need more sedation than average. I need higher doses of pain medication for it too be of any good.....(of course doctors are always suspicious). I tire more easily. I am hypermobile in my feet, ankles, knees, hips spine, wrists, fingers. That is about all that I think.

I've had carpal tunnel on both wrists for years and ended up with the 2 surgeries. I've had 2 hip replacements after putting up with years of osteo arthritis. I just had my knee replaced. I have a great surgeon but having EDS can cause complications with surgeries when you heal. So I either have scar tissue or a band in the side of my knee causing me problems and I will have to have another surgery. I wear orthotics for my feet.

It is important that you find a really really good rheumatologist/pain management doctor. My doctor is both which works out great. Hopefully you can find one like that but if now that is O.K. Just make sure that they are both really good and that they know about and respect EDS. Like I said about the pain meds. People with EDS generally need higher doses since our bodies don't seem to synthesise it the right way.

Check out your vision, hearing.......it can literally affect anything. I also had my heart test for the "mitral valve prolapse" which I was fine and the vas majority of people are but there is the chance that there can be a valve issue.

Also as far as your activity goes it is best not to do high impact type activity...weight bearing things either. You don't want to stress your joints. Exercise is good but easy exercise. Exercise that doesn't require excessive stretching or lifting. Swimming and Pilates are really good. Some kinds of yoga are good too. Just normal movement type activity. Work in strengthening your muscles to compensate for your tendons and ligaments. Gently though and with balance. You want your muscles strengthened equally strengthened to keep you in balance. Don't over stretch.

This is why I say research is your best thing because you will know more than most doctors by doing it. Most doctors don't know and/or recognize EDS as anything of significance because they really have never seen it or they have seen it but they just don't bother to try to identify it.

EDS has changed my life. I cannot say for the better either. I know of people who have it worse though so I am lucky. I hope that I have helped you. Just be your own advocate. Don't let doctors intimidate you either. Good luck!

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Response to Seeinghope (Reply #16)

Tue Jul 26, 2016, 06:53 PM

19. Connected all my dots, too!

Some of which I'd love to give back, lol.

Thanks for the support and suggestions -- I'm really lucky to have a pretty well-informed team of doctors (and believe me when I am good at educating them when needed!), and an incredibly supportive partner.

I hope summer is being kind to you, and that you're able to stay out of the heat.

Blessings,
DLO

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Response to DeadLetterOffice (Original post)

Mon Jul 25, 2016, 03:25 AM

17. The daughter of a friend of mine has one of the variants of this

She is a world class athlete, and will be competing in the upcoming Olympics.

It is a challenge, but her motto seems to be "Challenge Accepted!"

The advances in Medicine in the last decades are wondrous. Things that would kill or badly disable us are now often controllable or repairable.

From someone that "has been there" (for something else), a lot of how it affects you is how you let it affect you. Challenges can be accepted.

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Response to Nac Mac Feegle (Reply #17)

Tue Jul 26, 2016, 06:48 PM

18. I'm sure you mean well.

And I'm sure it's pretty cool to know someone who is an Olympic athlete.

But that person? That person isn't me. And you don't have first hand experience with me, or with my genetic disorder. The physical sequalae of my genetic mutation affect me profoundly, whether I "let" them or not. I've been assured, repeatedly, that they are not repairable. Some are controllable to some degree; others less so, and a few get to have free rein despite all attempts to make them behave better.

As I said, I'm sure you mean well. But in my experience, being told "it's all about attitude" or "it's your choice how it affects you" is dismissive of the realities of having a disabling condition. And being told "I know someone who also has x and they're doing GREAT" is not encouraging, or supportive -- rather, it implies that the ill/disabled person could be doing GREAT too, if they'd just do it RIGHT.

All of us are different. I'm glad your friend's daughter is doing so well. When I was young, I was an athlete too, though not of Olympic caliber, of course. But that hasn't kept my body from slowly falling apart as I age, as the faulty collagen gets older and weaker -- that seems to be my path to walk (or roll, as the case may be). I hope your friend's daughter is gifted with a different path, one that lets her stay well and able.

Thank you for taking the time to write, and to read this response too. All the best to you and yours,
DLO

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Response to DeadLetterOffice (Reply #18)

Thu Jul 28, 2016, 06:41 PM

20. I have no intention of being condescending.

I understand that you have to pick your battles, but you can pick your victories.

I almost coded 3 times in the period of a month before my problem got diagnosed and treated.

Sometimes your victories are "Got out of bed by myself." "Didn't choke on broth." "Made it to the bathroom with only a cane." or "Was able to talk on the phone for 5 minutes with the other person being able to understand me."

It's easy to give up, anyone can do it. I know that seems trite, but it's also true.

Fight for every second, every minute. Avenge yourself by being a pain in the ass to some deserving people, if nothing else.

Find something to be passionate about and fight for it, however you can.

Refuse to "give up", but feel free to "take a rest".

If I am going to be killed by a bear, I will jam my arm down its' throat and choke it to death, that I may have a suitable mount in the afterlife. I'm takin' that motherf**ker with me.


---------------------------------------
Do not go gentle into that good night.
Rage, rage against the dying of the light.
-Dylan Thomas

----------------------------------------


And never, never, NEVER give up your sense of humor. The more sick and twisted the better.



The fates DESERVE an extended middle finger in return for their "tender mercies".

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Response to Nac Mac Feegle (Reply #20)

Thu Aug 11, 2016, 12:15 AM

24. Amen.

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Response to DeadLetterOffice (Original post)

Tue Aug 2, 2016, 07:50 AM

21. my daughter's pcp thinks she has this.

she is a medical mystery at 22. every system in her body is weird and fucked up. so f'd up that one doc was sure she had mitochondrial damage.
he sent her to a geneticist who was an ass, and wouldnt test her. she is looking to see another one. i mean, wtf, dont all docs run the test to be sure?

i am sure she got it from me, if she has it. i am also a medical mystery.

i wonder if you ever had an ana panel. this daughter and her sister and i all have a strange pattern that looks kinda like lupus, but isnt. high ssa, but not ssb. plus mct is high. i was told i have some sort of mixed connective tissue problem, but dont know what. arthritis started setting in in my 40's, and have fibro dx. pretty well controlled right now w meds, but has been a real problem.

it does help to at least know. those years of docs shaking their heads, and tests that show nothing are frustrating and depressing.
hope that you can find some help to at least ameliorate your symptoms. glad it is not affecting your heart. daughter has heart trouble, too.

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Response to DeadLetterOffice (Original post)

Wed Aug 10, 2016, 10:41 PM

22. just got dx'd myself

Which one? I'm hyperflexible. I'm 51.

My big part is the constant muscle cramps (in spite of excess magnesium, potassioum, and salt).

Good luck to you and 'welcome to the club'.

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Response to Paula Sims (Reply #22)

Thu Aug 11, 2016, 12:14 AM

23. Hypermobile (type 3)

Have you visited www.ednf.org yet? Lots of good info on many EDS topics.

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