Ehlers Danlos Syndrome Thread

[goofieslonglostsis]

He is seeing a therapist and has a psychiatrist for medications. Neither really know anything about EDS. It has been a real challenge finding a good medication for him and we had a really hard year last year. He is stable right now, but gained a bunch of weight as a side-effect of one of the medications he tried. This is bad for his joints, he knows and is trying to get the weight off. So far his pain levels haven't required any narcotic type drugs, so we're thankful for that.

Despiteall this, his grades are very good and he is planning for college (he'll be a senior this year). He wants to be a doctor, but I am not sure if he will physically be able to deal with the stresses of completing a medical program. He is such a kind, sweet, smart kid. I feel so bad that this is happening to him. I know it is important to keep positive for him. We are going to see his family practice doctor this week to tell her the results from Johns Hopkins and hopefully get things rolling for physical therapy and a "tip table test" the geneticist thinks he should do.

Thanks for your advice and words of wisdom.

Pure my experience from own position and through supporting others with eds (do some stuff for eds foundation and have some in my friends group), but knowledge of eds isnt a must. Experience with "medical world" and the effects of chronical illness/disability on psyche and relationships is a must though. While the "vehicle" can alter from diagnose Y or Z, the core issues come down to the same. Grieving the loss of what is no more and learning to accept the new facts. Re-invent yourself in a way. Each person has their own challenges in this, own questions and fears but all go diwn this road. Some find it so difficult, theyll sink into issues like depression. Positive is that underlying blue print which gives knowledge what to do or dont.

If he misses a core click, please search for that click. Its worth it. Many crash on the "you dont get it". Not meaning not understanding eds but the fact that its a different world once entering healthcare. It has its own rules on anything from communication to fact viewing that can be 180 degrees from the rules we have for the same things outside in the "real world". Which makes it very frustrating if talking to someone unaware of those 2 different worlds. Ive seen many crash and burn in "regular" mental healthcare because of this. Most do find that insight within the medical psychology or medical psychiatry. One word extra makes a lot of difference in approach, knowledge and experience.

With regards to ad meds: I would be the last person to tell anyone not to take a medication. There can be very ligit reasons for orescribing ad and using them. I do believe in these situations pill wont ever be "enough". They can be a huge influence, can even safe someones life but talking and learning new life skills or better said: learning to revalue oneself, life etc is also a must. Learning how life with in this case eds can still be very worthwhile. Can still come with huge dreams etcetc. Learning the skills how he can find out what that means for him. What his goals would be, how he can reach them etc. Some of the more physical learning (like where to draw the line and not feel bad about that) are more typical rehab stuff.

Could he have benefit from meeting another person with eds that has been where hes right now, to not just be told so but see things can change? So me people get very empowered by such a glimps into a possible future. If so: have a look round on some boards from usa eds foundation etc.

Its rough to feel as he does mentally. I still call it a worse hell than what the physical can do. Be aware of yourself also, you might find its a bit too much for you as a parent to go through without someone to vent with regularly and/or giving you some coping tools. In phys rehab they take those closest to the "patient" also into account. For kids/teens that would be the parents. Offering them help, support and education. Says enough about how rough it can be for loved ones. Dont feel bad if you find it rough at times. Its human and taking care of yourself allows you to take care of him after all.

 

[Mommee]

I just wanted to say hi, chief!

 

[chiefmickeymouse]

I just wanted to say hi, chief!

Hi, nice to meet some people who have experience with EDS

 

[ezio]

wrong thing. sorry.

 

[Mommee]

We are here now. I rode the mine train yesterday.. I can't do a lot of rides because they are too hard on my body, but the mine train was fine! It went fast at times, but it was SO smooth. The bucket seats really helped to keep me braced, too. Since I spend a lot of time sitting waiting for my family to do the big rides, it was great to know this is one we can do all together.

 

[sleepingbean]

Thanks for letting us know about the new ride! I was just wondering

 

[Mommee]

Just a little heads-up...if any of you were thinking of trying jamberry nail wraps, be careful. I am hypermobile with some classical crossover, so it may not happen if your skin/nails aren't affected.. but when I went to take the wraps off, the nail underneath had softened and stuck to the wrap and was damaged. I did the "gentle" removal and used olive oil, but it didn't matter because the nail was so soft. The same thing happened to my daughter.

 

[shaybot]

Hey all, This isn't really Disney related but I do have a question about ED. Ive been going through the diagnostic process for a year now and we are completely stumped. I was tentatively diagnosed with fibro but I recently came across ED and it sounded similar to my experiences. I just wanted to hear from some of you about your symptoms and diagnostic processes.

My symptoms:
Flexible knee and hip joints
Headaches/Migraines (sensitive to light and sound)
Stomach pains/ nausea etc.
numbness/tingling/prickling in limbs
Joint pain specifically in hands and knees
Neck pain
Difficult to raise arms in any position other than by my side for more than ten seconds
Lightheadedness
Dizziness

 

[Mommee]

Welcome

ED is erectile dysfunction

EDS, however, is a different animal. Is it only your hips and knees that are hypermobile? Many of the symptoms you listed sound like they're related to a neck issue, which may or may not be related to EDS.

I would go to www.ednf.org and do some research. The diagnostic criteria for each type is listed.

As for being diagnosed, it was pretty straight forward for me. I'm that severe, textbook-type case that can be spotted from a mile away. Doc sent me to geneticist, geneticist talked to me about my (and my family's) history, checked my skin for texture and stretchiness, checked my joint range of motion, and pronounced me an EDSer.

 

[shaybot]

Okay definitely not ED lol.
The flexibility is most notably in my lower limbs and hips but less pronounced anywhere else.
The doctors found nothing in my neck and back severe enough to feasibly cause all or any of my symptoms , especially those in my stomach and head.

I did look on that site already and it sounded close enough that I figured Id ask people who experience it to determine if I should even bring it up to my doctor.

What is the skin texture I heard about, I know its velvety but is it in large patches or all over?

 

[Mommee]

For me it's all over. I know that not all EDSers have different skin; I'm considered to have some classical crossover. It's similar to a newborn baby's skin. Or maybe softened butter. For example, my skin is stretchy, but it's difficult to grasp it because it slips out of my fingers. When I had one of my surgeries, they gave me a block that completely numbed my arm. I remember stroking my arm and telling my husband that he was right, I do have velvety skin!! I can't tell a difference otherwise because it's just me touching me, if that makes sense.
The geneticist called my skin "doughy" at first, but I said that wasn't very flattering. He laughed and said "how about the word velvety instead? ". When I received his written report it indeed said velvety

 

[goofieslonglostsis]

Okay definitely not ED lol.
The flexibility is most notably in my lower limbs and hips but less pronounced anywhere else.
The doctors found nothing in my neck and back severe enough to feasibly cause all or any of my symptoms , especially those in my stomach and head.

I did look on that site already and it sounded close enough that I figured Id ask people who experience it to determine if I should even bring it up to my doctor.

What is the skin texture I heard about, I know its velvety but is it in large patches or all over?

That is general, apart perhaps from serious alteriations due to injuries, allthough injury sites will also show typical signs of eds skin like for instance thin scar tissue etc etc. In a much rarer subtype of eds one sets another typical change in skin where hands and feet look like someone is in their 90 eventhough they can be as young as a child. Its pretty simple common sense thing. In eds the connective tissue is of an inferieur quality. Skin is made up of, amongst others, connective tissue. Logical consequence; the intire skin is effected.

What others think isn't that important. You apparently wonder if it might perhaps be eds. Only a proper knowledgable geneticist can answer that question and thus is the one to ask, not us.

Do some educatie on diagnosis though, including becoming aware that this can be a diagnosis that is not always pure black and white yes or no. We still lack much more than we know about eds, incl ability to test for the different defects. That combine with general poor knowledge can leading to Both wrong diagnostics and diagnostics that over time needs to be altered. Same can be the case for other connective tissue disorders, which can be very alike and can really need expert input to distingish in between and sometimes will take years or longer to ever be possible to.

To give you an example; Im a textbook case, at least 3rd generation. Other generation also have/had other conditions like RA that had them in the medical field constantly but never even once considered eds until I was suspected and ended up at the same "family" rheumy Who put it all together. Textbook and thus knew on the spot. First official genetic diagnosis took over a year, diagnosed hypermobility type. Couple years later suspected vascular type given the many vascular issues. Had more testing in a specialised center, turnen out negative for the currently know defects in veds, refirmed heds with explanation to come back if X, Y, Z would happen, knowing they havent mapped all the veds defects yet. Twelve years since eds first got mentioned my diagnosis has been altered to veds, after a by then typical all telling medical history of typical vascular complications that keep recurring, including one of the strokes I had during a WDW trip on a birthday. In a weird way wdw sollidified the altered diagnosis, or better put; the great care I got during that trip. Purely based on symptomatic treatment (and rightfully so) but gained us so much info and proof, geneticist back home had a "picknick" in how clear it was by than which type we were looking at. Weird, horrible and most dear, special great trip that was. Literally owe my life and quality of it to some great wdw employees and medical staff incl a trauma specialist being on call and assigned my case that happend to know worlds about eds. Owe that man, seriously.

 

[Threeboysandachickie]

Hello. Fellow EDSer here! Myself and three of my four children were diagnosed by a geneticist at the University of Iowa Hospital a couple months ago. We have hypermobility type. My son and I scored nine out of 10 on the Scale.

Our family has many health issues and we're not sure how many are connected to EDS. I have a vision impairment retinal disorder, anxiety, and G.I. issues. One of my sons has a seizure disorder. All of the children have ADHD and G.I. issues.

Due to my vision impairment I fall down the stairs a lot and tear a lot of ligaments in my ankle. I also have bursitis in my hip. My daughter and I were really good gymnasts, but my daughter had to stop due to her severe EDS.

I just wanted to add my story to the thread. Thanks for all the wonderful information that I've read!

 

[WheeledTraveler]

For the poster wondering if they could have EDS, the answer is maybe. Goofieslonglostsis has a good explanation of the issues. I will tell you not to assume that you are only hypermobile in joints where you have problems. I went into my appointment with a geneticist thinking that I wasn't hypermobile at all in my elbows. Instead, they measured a higher degree of hypermobility than my knees (which were a known problem). I'd had doctors tell me for years my elbows weren't hypbermobile. For various reasons I ended up paying the money and travel to go to one of the EDS specialists in the US, but most geneticists here seem to be competant to diagnose. In the US, I would not assume that a rheumatologist or non-geneticist would be able to correctly evaluate for EDS (there are a few geneticists who aren't good, but that seems to be rarer and rarer). I had rheumatologists tell me I wasn't hypermobile based on doing the wrong evaluation or even one who said I had "mild joint laxity" but that it wouldn't ever cause me problems (he'd diagnosed me with fibro and even agreed it seemed like there was more going on, but couldn't make the connection because I don't look so extreme). In much of the rest of the world, rheumatologists are actually who do diagnosis of EDS. In the US they really should be the ones IDing and treating EDS, but my experience has been most rheumatologists don't want to bother with me because it's not autoimmune.

Depending on type, you might have some or no skin issues. Many folks with hypermobility type don't have skin problems.

If you think you might have EDS, a good first step is to print out some of the info (the EDNF checklist is decent for this) and bring it to your primary care. It's also worth seeing if you can find out where people in your area have gone to be diagnosed. As I said, I traveled to someone considered one of the best, but I probably could have gone to a local geneticist (he might have then sent me on due to some of my complications, but most people wouldn't have been).

 

[Mommee]

Hi, threeboysandachickie! I used to be a gymnast; I think there's a good amount of us that gravitated toward that. We just made the decision to pull my daughter out of ballet last night. She's wanted to do this for years, but it's killing her knees after only 2 classes. I knew when she agreed that the pain must really be getting to her.

Wheeled, I didn't realize my elbows were hypermobile until the geneticist, either. I've had trouble with tennis elbow for years, but that's it. Apparently when you straighten your arm it should stop a lot sooner than I thought, and the inner elbow should not end up facing the ceiling/wall next to you. Who knew

 

[Threeboysandachickie]

My daughter loves ballet also. She has been told by the doctors that she cannot enroll in toe classes. She was very upset. My middle DS was taken out of football. Luckily my oldest is a swimmer so he is safe in his sport. It is heartbreaking as a parent to take your children away from something they love. I do my best to let them make their own choices and decisions...but we do have to refuse them sometimes. I can't count the times I have wished to be normal. It is a horrible thing to witness my children go through the same painful decisions I did.

 

[shaybot]

EDS sounded possible to me, I wanted to ask purely to understand the nature of the condition, sometimes the way the symptom is described online is misleading or ambiguous and I just wanted some real life context. You've all pretty much confirmed my suspicions that its worth bringing up so thank you. My doctors have been pretty much scratching their heads and are totally stumped. A lot of things I didnt ever mention (flexibility stomach pains) because they didnt seem connected, seem to fall in line, but I guess I wont know till I see a doctor.

Ive never really thought my hypermobility could be part if the problem as It didnt cause a lot of pain or much at all. But a comment someone made (about their inner elbow facing the ceiling ) sounds like me, and just like them I didnt know elbows shouldn't do that

Anyway, Id like to thank everyone who gave me information. I really appreciate it.

 

[utterrandomness]

Does anyone here use a wheelchair for EDS stuff? I'm mostly wondering if you use less energy than walking. Thanks

 

[goofieslonglostsis]

Does anyone here use a wheelchair for EDS stuff? I'm mostly wondering if you use less energy than walking. Thanks

Depends ons the individuals issues. Some can self propel, some not. Some can make due with wheels with exceleration in them (darn, forgot all brand names), others not. One HUGE thing tot keep in mind; muscles strength, used properly is what is best prevention. So one will have tot increase te daily training program forum the leg muscles etc wen reducing walking (read: reduce training through daily movement, which adds mach needed upkeep).

Ik started using aan manual chair in 2001. Stopped all walking (maybe max 10 meters anyway) bytes 2003 since in resulted in too many risky serious injuries due tot falls etc. Rehab unfortunately couldnt help add improvement. Have always had me daily training in place, over the years adapted to abilities and needs, like more static focus op legs when using them less. Doing them doesnt always clearly show you why, but stop and doen nothing andere itll go down hill real fast within days Ive found. Still do my program till the day of today.

In 2006/07 moved to a powerchair, short distances self propelling was too damaging by then and lower level options werent enough. Duration of ability to sit went downhill, needing tot have a lie down more often and longer. Since over a year am fully bedridden. None caused organisatie fastened by starting tot used aids properly, but rather by a combination of serious overdoing it (sometimes onze purpose, for instance when worth the pay off), too long waits before getting proper aids and having a severe progressive form off.

A few heads up: many have difficulty with bumps in roads. There are wheelchairs with suspention, ranging from 1 to 4 point individual suspention. For power assisted aids like ecv, powerchair etc there are regular types with better suspention but if not enough there is also a separate air suspention system that can be built into some type of these aids.

Also when walking is an issue, there is more than only a wheelchair. Ik know of eds-ers that do perfect with rollator, Caine, crutches (NOT the standard american type you put underground you armpit, but te european style underarm crutches, whether or nor adjustable -allowing you to alternate the pressure points-), walking bikes (bikes with nog peddles, allowing for walking but reducing strength needed andere pressure ons joints) etcetc. You will really need to test and set what works for you.

 

[leahlefler]

Hi everyone!

I have a 7 year old son diagnosed with EDS (hypermobility). He has a moderately severe hearing loss (two hearing aids), astigmatism and nearsighted in one eye/farsighted in the other eye (which led to amblyopia, he wears glasses), heat intolerance, severe GI issues (he is tube fed at night - severe reflux and gastroparesis/had a Nissen Fundoplication), a floppy airway (several airway surgeries & history of C-pap usage). He does use a medical stroller on occasion, to prevent fatigue or when he is fatigued from walking. He does fine 90% of the time, but walking in large cities or for extended periods of time does him in.

We're headed to Disney World for the first time with him in February. He is SO excited about going - he is a real thrill seeker and he is tall enough for all of the rides at Disney - so he is over the moon! We use a Maclaren Major for him when needed, and it has been a lifesaver.