Gifted Issues Discussion homepage Forums Twice Exceptional Marfans and connective tissue disorders

Lori H you have chronicled the struggles faced by both you and your son so emotionally on these boards. I know you are in the midst of the worst of it right now and am not sure if you are taking time to read any other threads. Irena posted this a few hours ago and I thought you should see it :

" 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."

I hope it helps to know how much your struggles have helped another family.

Thinking of you and your son a lot this week. Please keep us posted and wish him all the best from me.

Thank you so much and that goes for everyone on this board. It is the only place I felt at home.

I don't think I will be able to post anything for a while. My son will be in a lot of pain for weeks and I will have to focus on helping him get through it.

I'm bumping this now.

Having learned a lot in the recent few days about JHS and EDS, after discovering the degree to which my DD14 is hypermobile (she can do many of the SERIOUS, major-league contortionist/freakshow things that you can find on the internet.... like, er, putting the her heel against her sternum, for example...)

We both have Beighton scores that are 7-9, depending on hormonal state (which relaxes or tightens ligaments), and those are not particularly hypermobile joints for either one of us.


Other things that I simply had no idea could be related to a connective-tissue defect:

a) thermoregulation difficulty
b) bleeding, esp capillary bleeding abnormalities in the extremities
c) VERY easy bruising
d) lack of sensitivity to topical anesthetics-- I've never (nor has DD, in talking to her) been "deadened" completely for dental work, but I have had dentists give me enough of the stuff to fell a horse and leave it wonky for 18+ hr. I just thought that was a pharmacology quirk which was familial.
e) Long, slender arms and hands-- my DD's hands are fully arachnodactyl, and she can easily do that circumfrence thing with her pinky and thumb at the wrist-- heck, she can do it up part of her forearm and over her HANDS at the knuckles.
f) stamina and handwriting issues in spite of having a primary teacher (my mother) truly perfect her grip and ergonomics (it just didn't help).

I can definitely identify the family members who are affected. My mother, and two of her six siblings, as well as their children.


So many people in that group have early onset osteoarthritis and chronic pain-- often pain that started when we were in our teens or twenties.

We're awaiting referral. I really hope that we're dealing with benign hypermobility, but I just don't think so. I truly think that it's a type of EDS. So glad that I never pushed DD to participate in sports.

It's also been amazing to me the difference in her productivity and resistance to doing tasks assigned to her, just treating her as though this IS in fact a set of challenges for her, and allowing her to use accommodations like writing less, and taking frequent breaks. She is SO much happier now that she feels like she has a reason for her lack of hand stamina-- and our blessings to only practice the piano for 20 minutes at a time. We're going to try some of the recommended ergo things for her hands in terms of handwriting.

I wanted to thank Lori and KJP in particular for making me think about connective tissue disorders beyond Marfan. Thank you.

HK, I am glad you have found this young for her. The anesthetic thing was such an eye opener for me. I had literally had no idea that local was supposed to do anything more than take the edge off. When I first read that I called my best friend and asked her if she felt her perineal repair and really wasn't ready for the "Nope, wouldn't have known he was down there if I couldn't see him". And I should have known that, I was in the room at the time, I just thought she was much braver than I had been.... I've had dentists squirt anesthetic straight into the open hole in my tooth, wait 30-60 seconds, work until I started screaming again and repeat... That was after they'd injected all they reasonably could into my gums. If I ever need dental work that major again I think I might just ask for a general. And we've learned to take our kids to hospital for splinters than need locals, because it won't work and they need gas.

I've just cultivated a VERY high pain tolerance. I'm (seriously) kind of dismissive with dentists and docs about it at this point. I gently tell them that I'm fine, though not "deadened" and if they react with MORE-MORE-MORE anesthetic via syringe, I just eventually lie and tell them I'm good to go. The last root canal that I had done, though, the endodontist was completely amazed at me. He knew that I wasn't deadened, but he took my word for it that I wasn't going to come out of that chair, either-- and I didn't. But I felt everything.

That was an abscess, I manage fine with normal dental work. And I haven't kicked any midwives or OBs in the face :-). But neither have I ever mastered cheerful 3-5 way conversations while being stitched up like my friend was doing! Thus I thought she was much braver than I, or had a higher pain tolerance (and mine is pretty high too).

This is interesting... does this have some sort of effect with epiderals? Mine didn't quite "take" for some reason... DS got the EDS from somewhere and I always looked towards my DH for this stuff since he quite clearly passed on the dysgraphia! But I noticed I have a lot of the symptoms (and my mom's fingers I found out pop in and out of her joints so maybe it runs from her?). But, while I have a lot of the symptoms and some of my joints are/seem hypermobile they do not literally pop and click out and in like my son's do... I do have mild scholiosis (and one shoulder higher than the other)

Yes, evidently. I had an Intraspinal narcotic, which worked great.

I also was theoretically not capable (in terms of pelvic structure) of giving birth vaginally to a neonate weighing over 6 lbs, but I managed DD who was 1.5 lb over that. Of course, it took 4h of intense pushing, and the doc said he'd never have believed it if he hadn't seen it himself...

Yeah, pregnancy was VERY hard on me pain-wise. My entire pelvic girdle just sort of :floated: and ground around with every step or movement, starting as soon as my ligaments began to loosen at about week 9. Debilitating sciatica and reflux. The entire thing is just a haze of pain, but I recall my OB cautioning me repeatedly about proprioception and joints due to my hypermobility. I frankly can't understand anyone that says "Oh, you forget" about that kind of pain. I think you'd have to have a lesion to forget that. Worth it, of course-- but not something that I can write off easily.

I've popped my knees out of joint shaking water off of them when stepping out of a pool or shower. Both knees readily subluxate, and I can also subluxate both wrists and ankles at will, too. It's a lot more inconvenient than painful-- at least if I don't ask them to bear weight before I figure out that they aren't aligned properly, that is.

I'm kind of excited that I finally know why stuff that seems so HARD for me seems so weird to other people!! I have to be SO careful to align my feet with my knees or they'll subluxate on me. SO painful when walking.

I'm going to be considerably less thrilled, of course, if there is an aortic dilation to worry about in my DD, since she absolutely canNOT be under beta-blockade, ever-ever-ever.

So just got home from DS's appointment with the geneticist. His "working diagnosis" is EDS but his doctor wants to review x-rays and talk to my geneticist to rule out other disorders. Since I have a clinical diagnosis of EDS type III and DS has a peculiar symptom I don't have (enamel flaking off teeth), I think he wants to make sure we have the right label.