Hypermobility - advice please

[beauncoltsmum]

Hi everyone.
My son is asd. He had his first occupational therapy appointment today and he therapist says that he has hypermobility. She also said that she was suprised that his doctor hadnt picked up on it.

I have done a search on hypermobility but all of the info is rather confusing

I also realised that a lot of my problems may be caused by this too as I can do all of the things which they describe....and all this time I thought I was just stretchy!!! I've been undergoing tests and seeing specialists for all my pain and problems 4 a while now.

2 get 2 the point though...can anyone tell me what this is in real life not medical jargon?

Got to wait a few months before we see the dr again (will try 2 get 2 see her before then but dont rate my chances).

So any info would be greatly appreciated.

Thanks so much
x

 

[KPeveler]

ok, a couple things:

read about Ehlers Danlos Syndrome, hypermobility type, which I have. the EDNF (ednf.org) can be pretty helpful in terms of information.

If you suspect that there is the "vacsular type" in your family, make sure you speak with a dr soon! has anyone in your family died suddenly on an aneurysm? That is generally the type of death that goes with EDS - vascular... however, that type is very rare.

check out butyoudontlooksick.com/boards for a message board with some of us EDSers!

I am not a doctor, but this is the condition I have, so it is what I know the most about...

 

[KPeveler]

p.s. PM me with any questions you have and I can give you my own experiences with it

 

[beauncoltsmum]

Thanx 4 your replies.

Have pm'd you

 

[PlainJane]

I'm currently going through the process right now of getting a diagnosis for Ehlers Danlos Syndrome myself. I've already been diagnosed with hypermobility, and the doctors I've seen so far all agree that I have EDS, but I still have to see a geneticist. Just to prepare you, getting a diagnosis and treatment for hypermobility or EDS is a very drawn out process.

As far as what to expect, hypermobility varies so much from person to person. Some people have such minor cases that they see it as a quirk at most, and has no real detrimental affects on their life. Others have to use mobility aids. I'm somewhere in between, I have flare ups where I have to use a wheelchair, but I'm normally healthy enough that I can go to the gym regularly and do low impact exercises. I know my limits, so that prevents a lot of dislocations and joint pain in my everyday life.

 

[KPeveler]

I'm currently going through the process right now of getting a diagnosis for Ehlers Danlos Syndrome myself. I've already been diagnosed with hypermobility, and the doctors I've seen so far all agree that I have EDS, but I still have to see a geneticist. Just to prepare you, getting a diagnosis and treatment for hypermobility or EDS is a very drawn out process.

As far as what to expect, hypermobility varies so much from person to person. Some people have such minor cases that they see it as a quirk at most, and has no real detrimental affects on their life. Others have to use mobility aids. I'm somewhere in between, I have flare ups where I have to use a wheelchair, but I'm normally healthy enough that I can go to the gym regularly and do low impact exercises. I know my limits, so that prevents a lot of dislocations and joint pain in my everyday life.

by the way, for both of you, EDS Type III (hypermobility type) does not have a reliable genetic test - they have not identified the gene yet, so a genetic test may not prove conclusive. not all doctors tell you that part, so i figured i should mention it to avoid confusion...

 

[beauncoltsmum]

I'm currently going through the process right now of getting a diagnosis for Ehlers Danlos Syndrome myself. I've already been diagnosed with hypermobility, and the doctors I've seen so far all agree that I have EDS, but I still have to see a geneticist. Just to prepare you, getting a diagnosis and treatment for hypermobility or EDS is a very drawn out process.

As far as what to expect, hypermobility varies so much from person to person. Some people have such minor cases that they see it as a quirk at most, and has no real detrimental affects on their life. Others have to use mobility aids. I'm somewhere in between, I have flare ups where I have to use a wheelchair, but I'm normally healthy enough that I can go to the gym regularly and do low impact exercises. I know my limits, so that prevents a lot of dislocations and joint pain in my everyday life.

Hi thanks for the reply.

Hopefully its not as drawn out as the process of getting my son diagnosed asd. Its so annoying isnt it!
thanks again

 

[goofieslonglostsis]

K, I can understand your thrive to inform people about EDS. I happen to be one of those with EDS (pretty much certain vascular type) and know there are those out there that go years without knowing this about themselves. But let's paint TO the total picture.

Hypermobility CAN be a symptom of an underlying medical problem. Connective tissue disorders are the main reasons for that. Amongst others there are hypermobility syndrome, Ehlers-Danlos Syndroom, Osteogenesis Imperfecta, Cutis Laxis, Marfans Syndrome etc.

Hypermobility however doesn't HAVE to be a symptom of an underlying medical problem. There are a lot of people out there that are hypermobile with no underlying medical problem whatsoever. Thank god, by the way.

Just to be clear again; hypermobility in itself is not a medical condition, syndrome or illness.

So, what does it mean that your son is hypermobile, Beauncoltsmum? None of us can tell you that. Only you, him and the medical professionals that see him can take a look at the total picture and decide if there is a need to try and figure out IF there is an underlying problem. I know this might be harder to judge because of the asd, but as each of those with asd also has their own level of functioning I'm just going to ask the questions anyway and let you decide if you can answer them (for yourself).

Does he frequently mention (or do you think) that he's in pain? Is he having any motorskill problems that don't fit the asd to a tooth? Does he have any skinproblems? Does he look 'different'? (taller than you'ld think for his age, face with very little fat in it, longer legs and arms than other kids his length) Does he break things easily? Bruise easily? Always seems to get injured? Moves like he's the biggest clumsiest kid alive? Or the opposite; move with such grace you'ld think he would be in ballet? Does he have very visable veins allover his body? Are there any bone-deformaties? Have there been multiple sudden deaths in the family? Possitive answers to these questions can point in the direction of there being an underlying medical problem but also aren't a certain thing. In that case it would be up to a geneticist to do the further diagnostics.

Besides that, hypermobility does come with some extras. Because he is hypermobile, he can hyperextend (overstretch beyond the point a jont would 'normally' stop) his joints very easily. Furthering such hyperextention can lead to problems in the long run. Just take a look at the gymnasts that have performed on top level for years. They stretched their bodies day after day after day. They furthered their natural -no underlying medical problem- hypermobility. The result; maybe an olympic medal but for most a crippled body before the retirement age because of the stretching. Working on not hyperextending is never a bad thing. Some sports like gymastics, ballet etc. could be the wrong choice in that case for the long run.

 

[KPeveler]

K, I can understand your thrive to inform people about EDS. I happen to be one of those with EDS (pretty much certain vascular type) and know there are those out there that go years without knowing this about themselves. But let's paint TO the total picture.

Hypermobility CAN be a symptom of an underlying medical problem. Connective tissue disorders are the main reasons for that. Amongst others there are hypermobility syndrome, Ehlers-Danlos Syndroom, Osteogenesis Imperfecta, Cutis Laxis, Marfans Syndrome etc.

Hypermobility however doesn't HAVE to be a symptom of an underlying medical problem. There are a lot of people out there that are hypermobile with no underlying medical problem whatsoever. Thank god, by the way.

Just to be clear again; hypermobility in itself is not a medical condition, syndrome or illness.

So, what does it mean that your son is hypermobile, Beauncoltsmum? None of us can tell you that. Only you, him and the medical professionals that see him can take a look at the total picture and decide if there is a need to try and figure out IF there is an underlying problem. I know this might be harder to judge because of the asd, but as each of those with asd also has their own level of functioning I'm just going to ask the questions anyway and let you decide if you can answer them (for yourself).

Does he frequently mention (or do you think) that he's in pain? Is he having any motorskill problems that don't fit the asd to a tooth? Does he have any skinproblems? Does he look 'different'? (taller than you'ld think for his age, face with very little fat in it, longer legs and arms than other kids his length) Does he break things easily? Bruise easily? Always seems to get injured? Moves like he's the biggest clumsiest kid alive? Or the opposite; move with such grace you'ld think he would be in ballet? Does he have very visable veins allover his body? Are there any bone-deformaties? Have there been multiple sudden deaths in the family? Possitive answers to these questions can point in the direction of there being an underlying medical problem but also aren't a certain thing. In that case it would be up to a geneticist to do the further diagnostics.

Besides that, hypermobility does come with some extras. Because he is hypermobile, he can hyperextend (overstretch beyond the point a jont would 'normally' stop) his joints very easily. Furthering such hyperextention can lead to problems in the long run. Just take a look at the gymnasts that have performed on top level for years. They stretched their bodies day after day after day. They furthered their natural -no underlying medical problem- hypermobility. The result; maybe an olympic medal but for most a crippled body before the retirement age because of the stretching. Working on not hyperextending is never a bad thing. Some sports like gymastics, ballet etc. could be the wrong choice in that case for the long run.

i was merely mentioning something i know about - i know nothing about any of those other conditions, so i dont want to say something wrong.

I know about going years without knowing about the condition - it took me over 20 yrs to get diagnosed.

I mentioned something briefly here, but i gave much more information in a private message - i dont like giving out lots of info here, either about my personal medical condition or other info, in hte event that I am wrong. I would rahter privately encourage a person to look at things, rahter than post a long thing here publicly and misinform people. I just felt I should mention I think your opening lines of your post are a little harsh-sounding, and your tone sounded like you were being condescending. Perhaps you did not mean this, perhaps sometihng was lost in translation.... but i just wanted to say i felt bad after reading your post and it makes me not want to post here to help people any more.

 

[goofieslonglostsis]

K, I'm sorry if you got the that negative feeling. In no way was I being condescending. There really is no need to feel bad, I ment and mean you no harm and nothing but the best.

It is up to you to decide to post or not. All I can see is that I had nor have any bad intentions.

 

[KPeveler]

K, I'm sorry if you got the wrong feeling. In no way was I being condescending. There really is no need to feel bad, I ment and mean you no harm and nothing but the best.

It is up to you to decide to post or not. All I can see is that I had nor have any bad intentions.

I figured as much - i thought maybe it was a translation thing or something, but i have kept quiet too often, and i find it is better to mention things rather than just feel bad and do nothing about it

 

[PlainJane]

by the way, for both of you, EDS Type III (hypermobility type) does not have a reliable genetic test - they have not identified the gene yet, so a genetic test may not prove conclusive. not all doctors tell you that part, so i figured i should mention it to avoid confusion...

Oh, I realize there is no way to prove that you have EDS type III from a genetic test, and they still have not identified the gene that causes EDS III. However, they still want me to go and rule out the vascular type. I've also heard there is some kind of physical test they put you through, but I'm far from an expert.

 

[KPeveler]

Oh, I realize there is no way to prove that you have EDS type III from a genetic test, and they still have not identified the gene that causes EDS III. However, they still want me to go and rule out the vascular type. I've also heard there is some kind of physical test they put you through, but I'm far from an expert.

oh definitely!! but not all drs are experts in EDS, and i have known people to be told they didnt have EDS III when the genetic test came back negative, which isnt true. if you've been fighting for a diagnosis as long as I have, i would hate to have a misunderstood test result make things ever worse!!

 

[PlainJane]

oh definitely!! but not all drs are experts in EDS, and i have known people to be told they didnt have EDS III when the genetic test came back negative, which isnt true. if you've been fighting for a diagnosis as long as I have, i would hate to have a misunderstood test result make things ever worse!!

Yeah, I've heard the horror stories of people almost getting a diagnosis, but because they lacked one criteria they were told they didn't have it. It seems a lot of doctors focus on stretchy skin or flat feet and completely ignore the other symptoms.

 

[beauncoltsmum]

Thanks for the reply I'll try to answer your questions

Does he frequently mention (or do you think) that he's in pain?
Yes he frequently asks to be carried because his legs hurt and he has walked a very small distance before he asks. He also wakes in the night with pain a couple of times a week.
Is he having any motorskill problems that don't fit the asd to a tooth? He has problems eating and drinking (very messy) and reached all of his milestones late. As you said though his asd may have something to do with these (but it is on the milder end of asd)
Does he have any skinproblems?
He has very bad excemaDoes he look 'different'? (taller than you'ld think for his age, face with very little fat in it, longer legs and arms than other kids his length)
He is a different looking and has very long arms and legs he has very little fat in his face and is taller than other kids his age
Does he break things easily?
He broke his arm from falling from a railing 2 feet high
Bruise easily?
He is covered in bruises all of the time
Always seems to get injured?
Always today its his elbow and knee and hand and head
Moves like he's the biggest clumsiest kid alive?
Very clumsy for the most part
Or the opposite; move with such grace you'ld think he would be in ballet?
Excellent soccer player not at all clumsy (apart from running into players and goalposts!)
Does he have very visable veins allover his body?
His veins are fairly visibleAre there any bone-deformaties?
No
Have there been multiple sudden deaths in the family?
No
Possitive answers to these questions can point in the direction of there being an underlying medical problem but also aren't a certain thing. In that case it would be up to a geneticist to do the further diagnostics.

Hope this helps. I also have the hypermobility as far as I can see (i thought i was just stretchy)! I also bruise easily am in lots of pain and have visible veins. I am also rather clumsy!

 

[goofieslonglostsis]

Hi Beauncoltsmum, sounds like you might want to look into this further. Some of the things you answered yes to (pain, always bruising -which could be because he is a boy but with you the same way that is less likely. You might want to try and see if you can determine the cause of each bruise or do they just 'pop up out of nothing'-, the length combined with the longer limbs, little facial fat, clumbsiness etc. could point towards an underlying medical cause. Most of these causes are hereditary. Some can skip a generation, others tend not to. That is why it's more 'interesting' that you are reporting some of the same things when it comes to yourself.

Now, I can not say if there is a bigger issue or not. But it does sound like something you might want to talk over with the docs to make sure whether or not there might be something going on or not.

Good luck!!

 

[beauncoltsmum]

Hi Beauncoltsmum, sounds like you might want to look into this further. Some of the things you answered yes to (pain, always bruising -which could be because he is a boy but with you the same way that is less likely. You might want to try and see if you can determine the cause of each bruise or do they just 'pop up out of nothing'-, the length combined with the longer limbs, little facial fat, clumbsiness etc. could point towards an underlying medical cause. Most of these causes are hereditary. Some can skip a generation, others tend not to. That is why it's more 'interesting' that you are reporting some of the same things when it comes to yourself.

Now, I can not say if there is a bigger issue or not. But it does sound like something you might want to talk over with the docs to make sure whether or not there might be something going on or not.

Good luck!!

Hi thanx again.

I will definitely make an appointment to speak to my dr. Like you said
though it is interesting that we both have lots of these things!

My bruises just seem to pop up I cant say that I have noticed hitting myself on anything when a bruise has appeared. I will definitely try to be more aware of how I am aquiring these bruises.
thanx again

 

[KPeveler]

If you said he is tall and thin with very long arms and legs, i would also read about marfan's syndrome. It is almost a "cousin" to EDS, but has different manifestations. there is a genetic test for that, i think, so diagnosis may be easier... again, not an expert, but sometimes reading about things can be helpful. i know i like to actually know what the dr is telling me, rather than relying on his/her sometimes-rushed explanations.

I will say this - don't get yourself too worked up by what you read online. however, since both EDS and marfans can have cardiac/vascular complications, don't let your son/yourself be brushed off. If a cardiologist says he is fine, then no worries, but sometimes GPs are afraid to look uninformed/stupid, so the brush off things they may not understand or know.... i have had that happen to me, and while i dont want to make you paranoid, you are the nest advocate your son can have. a mom knows when something is wrong, so follow your instincts and you should do fine!

 

[The Cheshire Cat]

I was just diagnosed with Ehlers Danlos Syndrome type III and would like any info my fellow EDSers may have about how they cope with doing Disney World for longer periods of time. I am going with my DH, DFIL, and DMIL in December for 10 nights and I am getting a little worried about all the walking. How do you guys cope with Disney and do you have any tricks ;-)
Thanks!

 

[goofieslonglostsis]

Might be bit of a all over the place kinda answer, but I'm about to leave for WDW in about 1.5 hours.

I don't walk, period. It simply became too risky, cost way too much yet didn't deliver me anything really. So, that is not a subject for me when doing WDW. If you are worried about the amount of walking involved; start training today! Build up gradually and slowly. Overdoing can be harmfull with EDS, where as with most other problems you would just get over it with time. Maybe you can work upto the amount you'll need to walk to do WDW, maybe not.

If it's any question of being able to do so at WDW: do yourself a huge favour and get an aid! Depending on what your limitations are, either a rollator (which would stimulate you walking but would make walking easier and give you a seat where ever you are) or an ECV can be both good options. Remember, you are new to EDS. Overdoing it can cause you to relaps permanently. As long as you do not know how YOUR body reacts to overdoing it (and the different levels of overdoing it), you probably do not want to gamble with this.

How I cope? I hit the park in blocks of time. Start up slowly, do a couple of hours, go back to the resort for a rest and do a couple of evening hours. For me, travel is MAJOR important. I know I overdo it, and know I'll pay the price for it. Not just for the days afterwards, but my bodies abilities will permanently suffer. Knowing this all too well, it allows me to make informed decisions. I go further than is purely medically wise and am willing to accept the consequences. Having said that, I do always respect the major borders, I will not crose those that have consequences beyond what I find acceptable.

My specialists know about this outlook on things and know I can differentiate. Because of this, they are willing to help me out. Besides my standard medication, we up and/or add temporarely for a trip. Never ever enough to numb out the extra pain, as I find I also need it as a sign not to go too much overboard. We basically try to walk the line between crashing during a trip and feeling to good and ruining it myself.

Also I'm always on the look out for people and their actions. I find myself pretty good at predicting what people will do, which helps me a lot to prevent people from accidentely bumping into me and causing dislocations. Those happen -the dislocations, not bumping intos- so frequently a day, I don't even blink and just put about 99,9% back in place myself, but any one that can be avoided is a plus.

Because of the EDS, I'm accident prown and all kinds of weird stuff happens all the time. So, I come prepared. My suitcase is always full of all kinds of medical supplies. Saves me a lot of ER trips. Right now only 1 out of 2 trips end up with me having to find some kind of medical help, which is pretty good score for me.

For me, it's basically doing what I am doing at home, be sensible, be honest with myself and make informed decisions including accepting possible consequences of whatever I decide to do or not do.