Medical mystery mostly solved, but questions remain....

[Amber in SJ]

The background is last Fall my very active, black belt, TKD teaching 17yo dd went away to college in another state.  She was pretty miserable in the snowy climate & always seemed to be sick or in pain.  She even went to the emergency room twice after passing out.  After a million tests a doctor at the health center told her she has Fibromyalgia.  I had a difficult time with the diagnosis because it seemed so random for a previously healthy teen, when there had been no accidents or  other trauma.  She struggled through the Fall, Winter & Spring semesters and was home in the summer for 6 weeks.  

 

While she was home we saw her primary care doc, a rehabilitative specialist, and an orthopedist.  Each one sent us along to the next specialist.  We finally were referred to a rheumatologist.  When she started to manually examine dds hands she said, "Are you double-jointed?"  The answer, of course is yes.  Hands, elbows, shoulders, knees & feet.  All my kids are.  Showing how they can hyperextend elbows & knees is their favorite gross party trick ever.  The doctor said dd could be diagnosed with 4 of the 9 markers and she had all 9.  She was very excited about # 9.  She said she had never seen that one in person.  The diagnosis is Ehlers-Danlos Syndrome-Hypermobility, which apparently caused the Fibromyalgia.  The doctor gave us an enormous stack of information and there I found several unexplained medical issues I had while pregnant.  She had chest x-rays & an ECHO to rule out an aneurysm and tons of physical therapy sessions that they let her record so she can keep it up when she is back at school.  This semester has been better so far, at least no trips to the ER.  The doctor said that developing some kind of chronic pain condition is universal for people with Ehlers-Danlos

 

The question is my other kids.  My two younger ones are also black belts.  The doctor said she would recommend against martial arts because of the high possibility of injury.  My other dd has dance class 4 hours a week & is pre-pointe this year.  The doctor said pointe class is not recommended, again because of the possibility of injury.  Do I really pull them from activities they love?  Do I wrap them in bubble wrap and not let them do anything?  Do I take in my perfectly healthy 11 & 13 yos to the doctor for a battery of tests to confirm that they have some genetic syndrome that they have all the physical markers for just like their sister and I & my dad have?  Do we go on like before as if we have no idea?  Because it is a genetic thing there is nothing to do about it.  I made it to 46 and had 4 kids without knowing I have some kind of syndrome.  

 

Ugh.  I really just want to pretend that we are not some kind of medical freaks, and go about our business, but I also feel like that is irresponsible.

 

On an interesting note, I had never heard of Ehlers-Danlos before that moment in the doctor's office and then it was the mystery disease of the week on a TV medical drama as a one in a million disease.  

 

Amber in SJ

[Starr]

That's a lot for you to take in at once. Just let it settle a while.  :grouphug:

[Guest]

I have no advice, but that is a lot to deal with.  :grouphug:

 

 

[abacus2]

I am glad your daughter received a diagnosis and helpful therapy. I have a friend with this diagnosis, and I think hers was diagnosed because of some heart trouble. I wouldn't ignore this. Have the family evaluated. I wouldn't immediately pull everyone from their favorite activities. Those activities pose some risk to anyone involved in them. It is good to make informed decisions with medical advice. You may find that changes made now have future benefits though.

[Carol in Cal.]

Do you know about Parents Helping Parents?  The first thing I would do if an unusual syndrome showed up in my family is contact them.  They are local to us!  And they have online groups for an astonishing array of very unusual illnesses, so you can usually find a experienced group to get information from.  Kind of like the Hive for that specific illness.

[Monica_in_Switzerland]

If developing some type of chronic pain condition is a guaranteed side effect, then I would just let them do sports for as long as they are able to do them.  UNLESS getting a serious injury could cause an acceleration of this chronic pain condition.  

 

But like others have said, take a week, or a month, or a year.  Talk with your kids about it.  They are old enough to assume *some* but not all of the decision making power here IMO.  Talk to your oldest DD and ask her if she would do things differently, now that she knows.  I don't know your kids, but I still have a hard time imagining anyone "regretting" the hard work and effort of receiving a black belt.  

 

Big hugs.  

[Tanaqui]

If you, as a family, decide to drop activities, it doesn't have to be all or nothing. Is it possible there is another activity they will also love? Your daughter does ballet. Would she enjoy a switch to modern dance, or flamenco, or any other style of dance that is less risky? Your other children do martial arts. Is there a different style of martial art that has a lower risk of the sort of injury your kids want to avoid? (Google suggests that's a possibility, but I don't know enough about the subject to say for sure.)

 

I would have the other kids evaluated for this right now. Otherwise, every time they have a little ache or pain, you're going to be thinking "Is this it? Is this it?" and it's going to drive you absolutely batty. It's always better to just know - and when you know for sure, you're better able to plan around it.

[lailasmum]

I would look at it from another angle. You've got a great chance to help your kids learn the skill of protecting their joints. There are tons of hobbies/passions that aren't full on for joints. Would your ballet kid be interested in theatre as an outlet for performance? Personally the joints I've injured and overused do hurt more plus they're joints that are stiffer and have more arthritis. I still do plenty of physically active stuff. My brother is the same and has developed the same pain issues at around the same age as I did. I look at my mum who has major joint issues in her old age and she's extremely hypermobile even now in her 70s but the negatives all came on later. She was an incredibly strong/fit person for a long time but her activities have been more mellow over the course of her life. General active lifestyle walking everywhere because there was limited other choice, outdoorsy lifestyle on a farm, school PE ( this is old fashioned UK PE lessons not in any way high intensity), gardening. It'll be different for everyone but I think if you can avoid adding damage to joints then I would.

Edited October 28, 2016 by lailasmum

[Tanaqui]

If developing some type of chronic pain condition is a guaranteed side effect, then I would just let them do sports for as long as they are able to do them.  UNLESS getting a serious injury could cause an acceleration of this chronic pain condition.

 

Is it the chronic pain that's the issue, or is the issue the risk of damaging the joints so that you can no longer use the limbs?

 

[lollie010]

My heart kind of skipped for a second when I read your post, because we are in a very similar situation, including ballet. I'm so thankful you got the correct diagnosis. I have been trying to find a good support group for parents of children with chronic pain conditions . It's a hard, winding road. My thoughts are with your family.

[lollie010]

Is it the chronic pain that's the issue, or is the issue the risk of damaging the joints so that you can no longer use the limbs?

Not sure about OP, but for us different doctors say different things and I really don't think anyone knows. 😢

[The Girls' Mom]

As far as testing goes, I would get the younger two tested.  There are a host of medical problems that can pop up with Ehlers that can be lessened if caught early.  Including heart problems.  I have a friend with a daughter that has been diagnosed with it.  She has a more severe form, but they have to stay on top of her medically.  

[bettyandbob]

Personally, I like to be armed with information.

 

I think I would put the healthy kids through medical tests. That would tell me if they needed to change activities. While doing that I'd look into support groups and through them research new things the kids could try or adaptations to their current activities.

 

Give yourself time, too.

[lailasmum]

Though the hypermobile type of eds doesn't have identified genes yet. So there may still be the need to make the decision on activities from the symptoms and advice.

[ktgrok]

If you, as a family, decide to drop activities, it doesn't have to be all or nothing. Is it possible there is another activity they will also love? Your daughter does ballet. Would she enjoy a switch to modern dance, or flamenco, or any other style of dance that is less risky? Your other children do martial arts. Is there a different style of martial art that has a lower risk of the sort of injury your kids want to avoid? (Google suggests that's a possibility, but I don't know enough about the subject to say for sure.)

 

I would have the other kids evaluated for this right now. Otherwise, every time they have a little ache or pain, you're going to be thinking "Is this it? Is this it?" and it's going to drive you absolutely batty. It's always better to just know - and when you know for sure, you're better able to plan around it.

 

all this. There are varying levels of risk. Pointe is VERY hard on the joints even of people that have perfectly normal joints. It does horrid damage to dancers, and if there is any instability that will be exacerbated. I would not allow her to do pointe. There are so many other forms of dance she can do instead. I also wouldn't allow gymnastics. 

 

For martial arts, I would at the very least talk with the instructor and find out his/her thoughts. Can it be done with less contact, to prevent injury?

[Mama Geek]

No advice, just  :grouphug:.  Dh had stomach problems for a long time.  In his late 30's he finally figured out one of his big problems was celiac.

[J-rap]

:grouphug:  :grouphug: to you!  I have heard of it before, because it's something we've looked at for my dd.  There is so much information out there these days!  I'm sure you'll get some very good advice.  And, you now have some answers.  (We are still looking for answers to my dd's medical mystery after 7 years, and are going back to Mayo this winter for more testing.)  

 

My brother is a chronic disease research doctor, and it really is so encouraging to hear about all the research being done in this area.  For the past 15 years, he has been studying mountain climbers, underwater swimmers (people who can swim over 15 minutes underwater without taking a breath) and Antarctic explorers to learn how different parts of the body are affected in extreme conditions, and how that information can be carried over to control numerous health conditions.

 

Anyway, it's encouraging for me to know that so much work is going on in these areas, as it gives me hope that my dd's condition won't always be so burdensome.

 

Take care as you seek more answers and figure out what's next.

 

 

[Matryoshka]

My dd18 has EDS hypermobility type.  She finally got diagnosed earlier this year.  She was a ballet dancer and did pointe - she had to give up on it a while because of so much pain, but she went back to it her senior year (against my advice).  We didn't know the cause of all her problems yet, though.  She ended up having to walk with a cane all summer - not sure if that was due to her going back to ballet or just the progression of the disease.  She has a PT now who specializes in EDS, and he told her no stretching for a year until he'd put her back together again (he flxes her upslips and subluxes, and she's doing muscle strengthening to keep things in place).  She had been planning on minoring in dance, but that doesn't seem at all feasible anymore.  

 

I sent you a pm

[OneStepAtATime]

:grouphug:  :grouphug:  :grouphug:

 

You need time to process and do more research before making any decisions.  When the doctor says to eliminate these activities is it because of pain or permanent damage to joints or ...?

 

No, I don't think you should wrap your kids in a bubble and never let them live their lives but the choices made now may have a lasting effect on the quality of their lives long term.  Pointe in particular is hard on the healthiest of joints.  If doing pointe now means a strong possibility of limited mobility and a ton of pain in just a few years, is it worth it?  Only you and your child can decide that.

 

There are a lot of options out there for activities that might fulfill your lives.  I would be exploring those and seeing what alternatives are around.  Don't quit right away if the kids are really involved and enjoying their activities (except maybe pointe) but look at other options and get them started on those now.  See if they would be happy doing other things.  Drama, as someone else mentioned, might be a healthier long term outlet than dance.  There are tons of different types of martial arts.  Perhaps there is another option that would be safer for this particular situation.

 

FWIW, not properly caring for a joint injury in my teens led to serious issues with my right knee later on, to the point where I spent months in a wheel chair as a young mother and my knee will never be the same again.  Joints are rather important for functionality and mobility.  Being a bit more cautious now may extend your childrens' functionality and keep their quality of life at a much higher level for a lot longer.

 

As for getting the youngers tested, because there are other health issues that can be involved with this disease, and there ARE things you can be doing to help (including keeping an eye on potential heart problems), I think I would go ahead and start testing.  Having that knowledge means you can be more proactive in how you approach choices that may affect their long term health and functionality.

 

Again, though, right now you need to process.  Huge, huge hugs.   :grouphug:  :grouphug:  :grouphug:

[kbutton]

We have a family member booked for an evaluation for EDS/connective tissue disorders (long wait here--next summer). I would do some research, think about the possible alternatives, etc. 

 

Here are some websites that friends pointed me to when we realized we would be seeking an evaluation:

http://www.chronicpainpartners.com/  (links to local support groups, lots of webinars)

http://ehlers-danlos.com/what-is-eds/

 

Does the hive have a social group for Ehlers-Danlos?

[kbutton]

Oh, an extended family member that likely has EDS (and has a fibromyalgia diagnosis, lots of joint issues/surgeries/joint replacement), finds ballroom dancing to be a really beneficial activity. It keeps her strong and in shape without tons of extra wear and tear. 

[Ottakee]

My horse back riding instructor and her daughter have EDS and they are both pretty high in the hunter jumper world.

[jewellsmommy]

Dd was diagnosed a couple years ago with the hypermobility type of eds. The cardiologist checked her heart and the opthamologist checked her eyes-both normal and good (always good to have these ruled out).  My brother and I both have markers but have not been diagnosed. My mother has some and has been diagnosed with fibromyalgia for many years. I have had wrist surgery twice because the looseness of the joint has led to much pain (set off by injury and then a ganglion cyst.) It is amazing that during the last surgery they removed/shortened part of the tendon and said that I would only have 5 degrees of motion, that my wrist would essentially be limited to straight. Nope, that bad boy stretched right back out and I have full range of motion and essentially undid the surgery (not on purpose). This was before we knew anything about  eds. I have to be careful with it. It is definitely hard for kids to understand the ramifications of their actions now and what it could mean for later.

 

I had to tell dd repeatedly at first to stop manipulating her joints for fun or as a side show act (no matter how impressive). No more games of Twister. SHe has retired undefeated :001_smile: . At 14 she already has pain randomly in her feet and ankles mostly, sometimes knees, ribs and neck. I don't have to remind her so much anymore because she gets it now. She does play soccer, but we nixed gymnastics right away. I want her to be active and healthy and enjoy sporty pursuits, but carefully and with understanding. I think we have found a good balance.

 

Help your kids find sports and activities that don't exploit their joints or are high impact. Because dd runs in soccer, she doesn't the rest of the week. We have an elliptical machine which gives a good workout without the impact. 

[Harriet Vane]

I have EDS.

 

It is essential for someone with hypermobile joints to build muscle strength because the muscles will try to compensate for what the weak connective tissue cannot do. Exercise of some sort is important. That said, it's also important not to overstretch connective tissue that is already weak and stretchy. Keep that in mind as you evaluate your options.

[jewellsmommy]

I have EDS.

 

It is essential for someone with hypermobile joints to build muscle strength because the muscles will try to compensate for what the weak connective tissue cannot do. Exercise of some sort is important. That said, it's also important not to overstretch connective tissue that is already weak and stretchy. Keep that in mind as you evaluate your options.

 

 

Yes and wanted to add about keeping the muscles limber as well. I had no idea how much dd used her joints solely for her bendiness. Her actual muscles were tight and inflexible before physical therapy. I was really surprised. The pt watched her do movements and said that dd was a master at avoiding the correct posturing and movement that would have stretched her muscles.

[Tree Frog]

Following because we've been trying to figure out what DD's issues are. EDS hypermobility fits a lot of the symptoms, but not all of them.

[Matryoshka]

Does the hive have a social group for Ehlers-Danlos?

Not that I know of. I started a group chat, but I think it will only let me add one more person, and there seems to be more people that could be interested. Should we make one?

[Amy in NH]

Following because we've been trying to figure out what DD's issues are. EDS hypermobility fits a lot of the symptoms, but not all of them.

Same, but not dd - me?

[kbutton]

Not that I know of. I started a group chat, but I think it will only let me add one more person, and there seems to be more people that could be interested. Should we make one?

 

I would like to join if you opt to start one. Thanks!

[Matryoshka]

I would like to join if you opt to start one. Thanks!

 

Okay everyone, I made an EDS social group.  I've never made a social group before, so hopefully I did it right.  Come and join. :)

[mommytobees]

I don't have time to read all the posts...but Welcome to the World of Zebras!

 

https://www.facebook.com/groups/1610566309197733/

 

If you are interested in meeting other like...jointed...bodies....most of the people on the group are homeschoolers.

 

My dd15 has EDS, I have EDS (though self-dx'ed), my son has EDS. It's a bowl of fun. My son and I don't really have many problems with it. I used to have regular dislocations, but learned how to control that as much as possible. My daughter has Fibro as well.

 

Anyway, you can't simply ignore it...that's how our daughters ended up with Fibromyalgia. Okay, I didn't know. That is true, but doesn't save her from the brain-altered chronic pain. Look at your baby girl and then look at her younger sibs....you'd save them all from chronic pain if you could, right?

 

{{{Hugs}}}} Zebras suck!

 

Kris

 

[mommytobees]

Oh, one other thought....

 

Has your daughter done any PT for the EDS? 

 

That has been one of the best activities for my dd. 

[Amber in SJ]

My dd has had some PT after her diagnosis, but I am not sure how much of it is specifically for the EDS.  In fact the therapist just kept giving her exercises for her core.  No exercises to strengthen the muscles around the joints or to stabilize the joints.  He said "first things first."  I am not a physical therapist, so that is what she is doing.  She is away at college and finds it difficult to find the time & energy to do her PT daily and as an adult (19) all I can do is encourage & try to sympathize.

 

On a side note.  During each of my deliveries I would dislocate one or both of my hips.  The doctors & nurses would all comment on it, but no one ever said anything to me like, "That doesn't usually happen during delivery.  You should get that looked at."  I had no idea it could be a symptom of something else.  I just thought it was a weird thing my body did during childbirth.  

 

Amber in SJ

[TravelingChris]

My family is not EDs but another type of hypermobility.  Ours seems to be connected with osteoporosis too.  My youngest got juvenile ideopathic osteoporosis that ended when she entered puberty.  She is now osteopenic as am I and probably her older sister too.  The youngest has  bad hypermobility with lots of dislocations.  We let her do sports.  I know that I enjoyed playing soccer and playing tennis even though I couldn't do them for all that long as an adult.  My dd did diving for a number of years.  She finally quit when she realized that she could never get her joints into the right position for certain dives.  She then resumed soccer for her senior year which caused less joint problems.  

[mommytobees]

My dd has had some PT after her diagnosis, but I am not sure how much of it is specifically for the EDS.  In fact the therapist just kept giving her exercises for her core.  No exercises to strengthen the muscles around the joints or to stabilize the joints.  He said "first things first."  I am not a physical therapist, so that is what she is doing.  She is away at college and finds it difficult to find the time & energy to do her PT daily and as an adult (19) all I can do is encourage & try to sympathize.

 

On a side note.  During each of my deliveries I would dislocate one or both of my hips.  The doctors & nurses would all comment on it, but no one ever said anything to me like, "That doesn't usually happen during delivery.  You should get that looked at."  I had no idea it could be a symptom of something else.  I just thought it was a weird thing my body did during childbirth.  

 

Amber in SJ

 

Most doctors do not know about EDS. My daughter was admitted to a children's hospital on Thursday and I talked to dozens of doctors and residents, only one knew what EDS was and that was because she had it... at one point, I was ask about it by a hospitalist attending in front of his babies (residents). I answered his question and then asked if he had heard of it; he answered, "5 minutes ago..." So he asked his residents questions and then I asked them all questions and then I scratched the middle of my back by bending my arm up my back (if that doesn't make sense, run your hand up your torso from your waist to your neck...I can do that, waist to nape of neck, on my back...and NOT sublux my shoulder.) 

 

You have to plan to educate each and every doctor for the rest of your/her lives. 

 

Ouch on the deliveries....I can sublux my hips, but they've never dislocated. My right shoulder, on the other hand, I've done 7 times. I don't even go to the ED for it anymore, takes too long. Shoulders, elbows, wrist (ouch), fingers, toes....

 

Kris

[klmama]

You may find some helpful info on this connective tissue disorder website.  It's not as intuitive as some websites.  Be sure to look at both sections of the site map so you don't miss anything important for your situation.   http://ctds.info/index.html

[Matryoshka]

My dd has had some PT after her diagnosis, but I am not sure how much of it is specifically for the EDS.  In fact the therapist just kept giving her exercises for her core.  No exercises to strengthen the muscles around the joints or to stabilize the joints.  He said "first things first."  I am not a physical therapist, so that is what she is doing.  She is away at college and finds it difficult to find the time & energy to do her PT daily and as an adult (19) all I can do is encourage & try to sympathize.

 

My dd had many rounds of PT before the EDS diagnosis - but it was always for what was most acute at the moment.  They couldn't wrap their head around her needing whole-body PT.  And it was always for a limited time and then as soon as it ended, any benefits from it would erode.  Another problem is that a PT that is not familiar with EDS can do more harm than good if they overextend something or work an area too hard before it's ready.

 

There's a PT that specializes in EDS that has written a book with step-by-step exercises. Here's the blurb from the book to give you an idea: Kevin Muldowney, MsPT has been treating people with Ehlers-Danlos Syndrome since 2005. As a physical therapist, he has developed an exercise protocol to help stabilize the many joint subluxations/dislocations associated with this genetic disorder. This book is intended for the person diagnosed with EDS to both inform them about the healthcare team needed to properly treat them as well as to guide both the physical therapist and their patient with EDS through the Muldowney exercise protocol. This book will cover such topics as: how joints sublux in this population, how to find the right physical therapist, how to exercise without injury and what physical therapy techniques works best. By the end of this protocol people with EDS should be better informed about what is going on with their body and how to make it better.

 

We are very fortunate to live close enough to Dr. Muldowney's office that dd is going there twice a week for therapy (we found the book first, recommended on an EDS board.  It was only later we realized he was driving distance).  It has made such a huge difference, in a short time.  She does now do the exercises daily at home, which she hadn't been as good about with previous PTs, but she can see the benefit so much that she is motivated enough to do it (she's also at college, and it's a 45 min drive for her each way to this PT's office).  They also put her upslips and subluxes back in place.  Last few visits, no upslips on her SI joint (which was waay out for a very long time - she was using a cane to walk all summer).  She came home this weekend and was walking upright (seriously, she was bent over like an old lady before).

[Tanaqui]

I have to say that I'm always astonished at the ability of the internet to accidentally bring together groups of people who have something really rare and random in common. Who would've guessed that this board would have so many people with a connection to this actually quite rare condition?

[kbutton]

I have to say that I'm always astonished at the ability of the internet to accidentally bring together groups of people who have something really rare and random in common. Who would've guessed that this board would have so many people with a connection to this actually quite rare condition?

 

I agree, though supposedly, it's quite rare to be diagnosed, but not necessarily quite rare to have it. They think it's more like 1% of the population, which means it's still rare, but not insanely so. 

[mommytobees]

I agree, though supposedly, it's quite rare to be diagnosed, but not necessarily quite rare to have it. They think it's more like 1% of the population, which means it's still rare, but not insanely so. 

 

Good way to put that!

 

My son and I both have EDS and never would have known except my dd has it so bad that she developed fibro. 

 

Kris