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

My son was only recently diagnosed with a connective tissue disorder and only because he needs surgery and the surgeon listened to me when I told him we had never been given a good explanation for my son's low muscle tone. He had been diagnosed earlier with developmental coordination disorder/dyspraxia and while there were some things in common, my son was not uncoordinated. His balance was excellent, even with scoliosis (his curves were balanced). He has danced in his musical theater group since he was four years old. There wasn't really a "motor learning" disability except that he only got to physically practice the dances half as much as other kids because he had to sit out and rest. My son kept saying that not being able to practice as much made it harder for him to develop muscle memory as fast as the other kids, but he always learned the dances in time to do the shows. His hands hurt after five minutes of coloring or handwriting. He did exercises. Didn't help. But he could type really fast. He can type notes on his iPhone at 90 something wpm. He found a test for this. That is faster than I could take shorthand years ago.

The geneticist said that every one of his symptoms could be caused by a connective tissue disorder. I was shocked to find out that I have it also. Because of "variable expression" I don't have many symptoms. Neither one of us looks like the typical person with Marfans. My son is tall, but not extremely tall. He will probably be just over 6 ft. tall when he has surgery next week. I am only 5'6 1/2" and don't have any hypermobile joints. I don't have chronic pain except for frequent migraines. We both get those with weather changes.

Unfortunately it is not unusual for doctors to not diagnose this until it is too late. Young people sometimes die from aortic dissection when they push themselves physically. It has happened to athletes with the condition. Very smart, talented people have died from it because they didn't know they had it.

And people have told me for years that I should get therapy for my anxiety and stop looking for answers and just accept whatever the doctors tell us. It was the same with the education issues.

I feel lucky to have the anxiety and my gut feeling that something wasn't right about the things I was told by experts.

I am so glad you got a diagnosis Lori. It's so hard to explain the limitations of a connective tissue disorder to - my kid CAN walk, run, jump, dance... They just can't do it for long. And no they don't "just need to toughen up" and do not "just need to work at getting fitter"... Aargh.

Sadly, mothers, in particular, have to do this all the time.

In my experience Marfan's is generally not something that doctors are going to look for. I've only had a couple of cases where that was an issue.

Is it connected in any way to the appearance scoliosis?

One mother who my wife is friends with only got a diagnosis of cystic fibrosis when her son was about 8. And she had been taking him to pediatric hospitals for years.

There's a ton of misdiagnosis and missed diagnoses out there in the medical field.

Hemochromatosis (overabsorbtion of iron) is another one that's missed. I had one of those cases last week.

One condition for which the old medieval treatment of periodic bloodletting is an excellent treatment.

There is a genetic test for Marfan's disease which is almost 100% sensitive. Has your son gotten that? There are many connective tissue diseases besides Marfan's.
Marfan's does not cause low muscle tone. Patients with Marfan's should be followed by a cardiologist.

This strikes me as particularly important information.

Yes, he had the test. When he tested positive for Marfan's they tested me even though I had very few symptoms, no hypermobile joints, no scoliosis, no pain except for migraines. There are people with Marfan's that have low muscle tone. His doctor said a connective tissue disorder could be the cause of all of his symptoms including the hypotonia and she tested him for Ehlers Danlos and Marfan's. When test results came back we were told that it was a mutation on the FBN1 gene, but one they had not seen before. I need to see a cardiologist but there isn't time to see one before my son's surgery next week. I am going to do my best to stay calm during the five days I will stay with my son in the hospital. I remember the old expression "don't blow a gasket" and thinking I could almost literally blow a gasket if I have a dilated aorta and my blood pressure goes up and stays up really high. I have white coat anxiety. I am sensitive to sounds and smells when I have migraines. I am extremely sensitive to seeing my child in pain. I have tried to prepare myself mentally and physically. I have worked out every day, lost 10 pounds, and have been eating a heart healthy diet since I found out that my son would have to have surgery. This is going to be the most challenging thing we have ever had to face.

It's so hard Lori, you've both been through so much already.

DH's cousins have Marfans. They are very tall. The main concern seems to be heart problems. However, there may not be any issue with the heart or at least not until much later in life.

I was just looking at the very first poem my son ever wrote. He is homeschooled but I sent him to one co-op class when he was 12. The assignment was to write a poem to go along with music of his choice. He chose a tune from some anime and I don't remember what it was, but he wrote this while he was wearing a painful scoliosis brace, knowing that he would have to wear it for years, feeling like he was stuck here in a sports obsessed town where he couldn't fit in because there were no other kids like him both physically and mentally, feeling judged instead of supported by some family members and very isolated. He begged to move away from here but we couldn't.


Sky shades changed from blue to gray,
as I walked a path of slow decay
I often thought of reasons I could not stay

A long way to go, but I hope and I pray
as I slowly tire like an animal caught on a tangled wire

Thinking it best to stop and rest, I made my bed by the flickering fire
I was distraught, but I had a thought that I should try another way
I couldn't sleep, I had to get there without delay

So I marched and I marched
Closer and closer I walked

To the place of my dreams


My son is not there yet. I hope and I pray that his surgery will go well and he will live with less pain and he can sleep at night. I have sometimes felt like that "animal caught in a tangled wire" because we kept trying for such a long time with no results and we were dealing with not just an education bureaucracy but also the "tangled wire" of the medical care bureaucracy.

Lori I admire your persistance as a mother. You're doing good.

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.

I am so glad for all these posts. I was talking to my mom about EDS and she told me as a toddler her shoulders would pop out of joint everytime someone grabbed her by the arm. Eventually her parents learned to pop them back in but it was very painful.

My epidural did not work a bit and I had to go under general. My son had to have stitches in his lip and screamed and cried like crazy. They assured me that he was totally numb but the way he screamed... I don't think so. My mom was almost killed by a dentist trying to numb her...

Lots of arthritis on her side.

I really need to learn more. I'm just absorbing these posts. I'd never heard of these disorders outside of here.

Oh boy.. this alone screams some type of EDS. No doubt. ((( hugs ))) to you...

It was a happy day for me making sense of so many "random" "unrelated" things in one fell swoop. I don't know that I was excited HK, but relieved at the very least.

Do any of you have knees that "lock"? Twice in the last few years I have been taken to the ER by ambulance when I leaned or just moved slightly and my knee locked in position where I could not move it. After some muscle relaxants and pain meds, it clicked back into place and I was perfectly fine. It was so painful each time and I really couldn't explain how it happened. Once sitting on the floor and once sitting in a chair doing very benign activities.

I also have a weird thing from high school that no one has ever explained. I ran a low-grade fever for 77 days straight. Only thing the extensive testing I underwent ever showed was an elevated SED rate in my CBC which they said, IIRC, was related to inflammation. No precipitating events and one day I just "got better". I missed the better part of my senior year in high school due to that.

My most recurring joint issue though is my ankles. They are so floppy that I need extremely tight skates to stand up on ice skates. Sometimes I seem to "step wrong" and the bones in my feet really hurt until something shifts again. My siblings don't have these problems. I seem to sprain my ankles easily too. First time was when I was in first grade and most years since there has been an injury in one or the other. I now have chronic pain (tendonitis) in one of them, have to wear orthotics and limit activity. I'm only in my 30's.

In bed, if the covers are at all heavy or tucked in, they feel like they are pulling on my toes/feet and it is so painful! I have to turn my legs or untuck the covers.

That Beighton scale is weird. The knees, elbows, and pinky tests are all just as pictured or a bit more for me. I can touch my tongue to my nose but can't lots of people? I can't balance on one foot for my life.

This seems like such a weird set of symptoms to explain to a doc.

I got more information today from the genetic counselor. It sounds like he either has EDS and maybe cleidocranial dysostosis (a skeletal abnormality) or just EDS. The ruling out of cleidocranial dysostosis is looking good.

Hi KJP I am glad you've had some useful follow up! It did sound much less helpful than you would hope from your last post. I do hope there is only one diagnosis, that's quite enough on its own.