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Hi All, Well, DS7 has been diagnosed with Ehlers Danlos by a genetist this past week. When we went to the neuromuscular clinic the doctor seemed to feel that DS's hypotonia was secondary perhaps to a connective tissue disorder because of his hypermobile joints. She referred us the connective tissue clinic. On Wednesday, we finally had our appointment and Dr. at the connective tissues clinic diagnosed him with Ehlers Danlos. She said it's quite mild but we need to have his heart looked at and monitored (incidently, or maybe not so incidental, mitrol valve issues, leaky heart valves, etc. run strong in my husband's family). I am not sure what to think as no one seems to run any kind of tests - they docs just look at him and talk to us for an hour and make these diagnosis. I know they see A LOT and know their stuff but still it just seems bit 'unscientific' to me. Nevertheless, now that I know what it is, it does seem to fit well albeit mildly. Doc was very nice - her son has dysgraphia and dyslexia (he's 16) we were chatting about that stuff (we were speculating that my DS has two things going on - mild ehlers danlos hypermobility type affecting his joints and this affecting his physical abilities to write for example and probably dysgraphia/dyslexia too). Anyway, just wanted to update y'all. I'm sad he has this but relieved to know the 'cause' and relieved that it is not something more difficult and that it is "mild." Anyone else here with a LO with this diagnosis?

Irena we are waiting for a confirmation of diagnosis from a geneticist, but yes. And there are others too, it seems like there is an unusually high number with EDS, marfans, or similar, considering the size of this board.

Also, Irena, there is not currently any gene test for EDS hypermobility type (which I would guess is the type that has been diagnosed). So diagnosis is by a checklist of features that actually are pretty easy to determine - the features are there or they aren't. It's great that his symptoms are mild now, but knowing he has EDS allows you to understand the risks and hopefully avoid problems in the future. It will also allow you to be on the watch for co-morbid issues that are often overlooked or misunderstood.

I have EDS-hypermobility type and my son has an appointment with a geneticist in Sept. He also has an appointment in the fall for an assessment to determine if he has dyslexia. So he is looking at an EDS/dyslexia combo too.

Have you seen this?

http://www.ednf.org/index.php?option=com_content&task=view&id=2127&Itemid=88889255

So there is no genetic test for EDS? I am wondering if we should get DS evaluated for this. He was diagnosed with benign congenital hypotonia as a baby and is still hypermobile. He also has GERD. I am not aware of any other problems, though he seems to tire more easily than other children (he also has asthma, though). He is only 5 so writing isn't a big part of his life yet, but I don't see any issues with it. One thing we do notice with him is that he drops things a lot--cups, forks, food, pencils, whatever. It's like he can't maintain a hand grip very well.

I don't see any of the skin manifestations--does that rule it out?

I would say you should get him evaluated for it... Hypermobile joints are the hallmark. Also the gerd and his tiring easily, the loose joints cause problems with hand strength. It's better to know b/c you can deal with thigs better and prevent things and monitor things.

I also have some hypermobile joints but not many. DS is more so than me, but not as extreme as the photos of EDS online. I guess maybe it's a spectrum?

There are gene tests for some of the other forms, but not hypermobility type (type 3), which is the most common type. And skin involvement is minimal in type 3, soft skin (whatever that means) but not super stretchy, super stretchy or fragile skin indicates a different type.

Thanks MON. Yes, the doctor is very qualified and she is sending a detailed report about her findng and how she came to it - also a report that I can give the school ... That is a definite plus - a highly qualified and credentialed CHOP specialist has diagnosed him with a real diagnosis.

I just personally wish there were a genetic test. The more research I do on it, though, the more it does fit quite well. The doc mentioned that there's no genetic test for it unfortanately (not for my son's type anyway - I think there are for the two much more serious types).

Yup.. mild or not, it's better to know!

No, that doesn't rule it out... especially the hypermobile type... My son seems to have no skin manifestations and, appparently, that is not uncommon particularly with the hypermobile type.

Oh good luck, let me know how it goes. Does your son have strabimus too (I can't remember)? Apparently that is commonly seen in EDS - something about the connective tissue affecting the eye muscles.

Yes that's my understanding and there can be big ranges of severity within families. it is genetic - chances seem high that you both probably have it.

It's a weird feeling to have the dx ... On the one hand, the whole reason we got to this point was because of the symptoms (albeit generally mild) seemed all related to me and various docs would give reasons for them that didn't seem quite right to me. It also seemed at times like people/professionals in general seemed to think I was perhaps 'off', 'overanxious' - or would 'he's fine - yeah he's not gonna be an olympic star but stop looking for trouble' king-of thing... But I kept thinking, that many of his issues, i.e. hypotonia, hypermobility, strabismus, bruxism, cavities, etc., are related. It was Lori H.'s posts and experiences that made me follow through on the connective tissue clinic recommendation. The neuromuscular doc made the recommendation and gave the referral but didn't make a big deal about it. She was like, "he's fine but you really should probably get those hypermobile joints looked at... But nothing to worry about." I think I was starting to think - oh he really is fine and I am just neurotic and expect too much from him, etc. But then, when I read Lori H's posts and experiences, I realized I have to follow my gut and take him to the connective tissue specialist and also that even if whatever he has is "mild" we still should know what it is.

So, at first I felt kind-of happy about the Dx .... Finally, I wasn't sent off being told "you worry too much, you expect too much. He's fine." Also, I am/was relieved it's this and it's mild rather than something worse. I am just this week after doing research and such starting to get really sad that he has this. It's a weird feeling.

That's refreshing to hear you have a center point to work from.

In skimming the PDF referenced above, it was interesting to see how suggested accomodations align very well with ones you were struggling to get enacted.

KJP and others, Do you know if my son's EDS could be contributing to or causing dysgraphia and dyspraxia symptoms? Or are the two unrelated?

Irena, I am so glad that you stuck with it and found a diagnosis for your son, and I also totally understand the mixed feelings, and how you will feel sad too. It's made me think a bit about whether or not I should look into why my ds is dyspraxic and dysgraphic - and I think that it's just amazing that you were able to find a link through another member of our board here that provided such a vital clue for your own ds - kind of amazing, isn't it?

Best wishes,

polarbear

Irena I doubt that there is a researched connection between dysgraphia or dyspraxia and EDS but I am pretty sure that there certainly is a connection. There is a definite cross over with neurological quirks in EDS and I am pretty sure every one of us wiht a child who has a connective tissue disorder on this board also has a child with a handwriting problem.

My eldest seems to have had less trouble learning handwriting, but that may have been that her literacy skills were so delayed that she was older before anyone expected her to output any sort of reasonable handwriting (because she had nothing to write). On the other hand she has co-ordination issues bordering on developmental co-ordination disorder / dyspraxia.

My second child I am quite certain would have ended up with a (physical/mechanical) dysgraphia diagnosis eventually had I not intervened with her handwriting at the time I did. I do not believe she actually is dysgraphic but a scenario was unfolding between her physical hand problems and her attention issues from ADD that was going nowhere good. This one (according to the OT) has neurological integration in line with her DYS IQ, which is the only reason she can do any of the things she can do with her floppy body.

My youngest is too young to know (she's definitely hypermobile and low tone, but too young for handwriting). She certainly falls over a lot, despite being apparently advanced in gross and fine motor skills.

All my children have gut issues, the youngest and eldest most severe. I think my eldest may be developing dysautonomia.

We are on vacation in an area where I have spotty service. I will try to respond more when I am back home.

MumToThree- autonomic dysfunction goes along with EDS for some people including me. PM me if you have questions. I recently saw a neurologist for this and some of her tips have really helped.

As for whether dysgraphia/dyspraxia are related to EDS, I don't have all the answers but I am guessing that they can be related. I am thinking it would be something like EDS causing symptoms that mirror the other two.

As for me, I remember not being good at coloring even though I tried to be. I remember my friends in elementary saying my writing was messy like a boy's.

In law school, exams killed my hands. I almost couldn't finish the bar exam because my hand was barely working at the end.

I didn't know I had EDS until recently. Some of my symptoms got worse after having kids.

KJP - I have POTS, it was diagnosed before the EDS, so I've been researching on and off for years. It's pretty distressing to see it coming on so young, if that's what it is.

It is possible to have hypermobility syndrome and just hypermobility syndrome, yes? I have scored DS on some of these criteria and he certainly is very hypermobile indeed (knees, ankles, elbows, wrists, and some finger joints). But, no skin involvement at all that I can see, as I say.

I'm going to get DS checked, but my DH is feeling anxious about the EDS possibility. DS is actually quite athletic, so he feels really bummed at the idea that athletics might be risky or cause him pain or frequent dislocations, not to mention the other possibilities. We had a very stressful babyhood with DS due to many doctors being alarmed about his very low tone and I have always thought that we would one day find "something else," personally...

As to a dysgraphia link, my general take from personal experience and cognitive theories and much reading in the last year runs this way:
When there is a system control failure and the automatic systems are unable to carry out the needed job, the brain might engage in more direct control. That more direct control on the one hand can bring more of the automatic brain systems under direct control and make additional resources available for general cognition. Conversely, when the specific challenged system is in use, the general cognitive resources are tapped out to directly manage that system.

So, with joint mobility issues (hypothesizing that not having typical resistance and range of motion constraints would require much more nuanced muscle control moment to moment) and vision issues you have two vectors demanding cognitive control, which means that there are few available resources to actually think about the coherent construction of what is to be written. Any sort of anxiety would likely also drag down EF resources.

Ultramarina my understanding is that current research shows that JHS and EDS type 3 are basically indistinguishable.

So if you are hypermobile, you have EDS type 3?? But aren't a LOT of people hypermobile? (so-called "double-jointed") I admit I've only done cursory reading on this so far...

Although I think it's looking more likely that DS and I have this. I also have migraines and IBS. I'm finding it extremely curious that so many of us on the board have this in the family! I wonder if there is some kind of genetic connection to intelligence? Or if it's just that people with this tend to have dysgraphia and that parents of kids with dysgraphia are more likely to end up here?

This appears to be helpful:

http://hypermobility.org/help-advice/hypermobility-syndromes/what-is-hms/

That's a great link, ultramarine ... breaks it down well. I read on Facebook EDS page that there will be a genetic test available for EDS Hypermobile type within a year... I wonder if there is any truth to that...

I really like this page:

http://www.ncbi.nlm.nih.gov/books/NBK1279/

Also the conference notes from the most recent conferences:


http://www.ednf.org/index.php?option=com_content&task=view&id=2052&Itemid=88889219

That's 2011, there are links in the side bar to other years

Re EDS and intelligence - I find it interesting too, just recently I read a theory re the dysautonomia common in EDS suggesting something to do with differences in the mylenation of nerves, which is also something I've read about studies on IQ. But haven't had time to research either.

Perhaps we are all related

I can imagine our long lost relatives meeting on the carnival circuit. He was a lovely contortionist known as The Human Pretzel. She was known as the amazing Mentalist celebrated as the smartest woman in the world able to perform multiple complex mental tasks simultaneously. They had a dozen kids who spread across the world creating pockets of gifted bendy people everywhere!

Ha!

Good article.

My gifted bendy kid will be less bendy because the spinal fusion surgery needed to correct his scoliosis will make his back stiff in the fused area. Surgery is tomorrow. Not only is he worried that he will die or be left paralyzed, but he hates the fact that he will never again be able to arch his back and move as easily as he does now. He says he can live with the pain he is in now. He says his life as he knows it will be over no matter how successful the surgery is. I don't know what to say when he says these things.

I wouldn't know either. Wishing you both strength to get through it.

I'm so sorry Lori.

Lori, the only thing I've got is this. When our DS worries excessively about the future, we note that it may be just as he predicts; or may be considerably better; or worse. But we don't know yet, and there's no point trying to solve problems that aren't here yet. What we have is this moment, now; and we are fortunate to have each other, and a good home, enough to eat, access to medical care. We'll do our best with what we have when it becomes clear what we're up against.

It is hard for perfectionists to become resigned to the imperfections of the future; but worrying sure doesn't make any of it better. Surgeons rarely recommend a surgery unless they think it will actually improve things. Sometimes you have to do your best to choose your people, then trust your people.

I hope the surgery goes well, and that the outcome is easier to live with than he thinks.

DeeDee

ps ETA: one more thought that has gotten me through some bad stuff: How you feel about something may or may not reflect reality. Feelings don't always correspond to an accurate assessment of the facts; it's best to notice that so that you don't get sucked in by negative ones...