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    Joined: Apr 2011
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    I would suggest a geneticist who has been recommended as a connective tissue specialist by a group like EDNF

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    Ok, thanks for all the input everyone. I don't think he has most of the symptoms (and some of the strange symptoms he does have like the notched teeth and shoulder dimples aren't listed as symptoms). I have a feeling there is something else going on, and it's quite possible there is a unique mutation at one of the breakpoints (chromosome 6 and 14 broke in half). I have the same chromosomal disorder and am also low tone with hypermobile joints as well. Same with my brother. So many genetic disorders cause similar symptoms, like low muscle tone. DS was already checked out by a geneticist, but I'll ask again to make sure we're not overlooking a connective tissue issue.

    Last edited by blackcat; 09/13/13 03:24 PM.
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    Um...

    so, my DD and I both seem to score about a 7 or so here on the Beighton index:


    http://www.ednf.org/index.php?option=com_content&task=view&id=1360&Itemid=88889296




    Um, everyone can pretty much do that, right? DD can actually put her thumb all the way up ON her forearm, no problem. I can do about what is shown in the photo. She can put her TOES into her armpit. Seriously.


    Her hands are like textbook pictures of arachnodactyly-- truly, this could BE my daughter's hands.



    and what's more-- she can TOTALLY do this.

    We both have nearly transparent skin that bruises if you even look at it wrong.


    In doing more reading, EDS could also explain my profound inability to thermoregulate-- something that I never even thought about.

    DD also has significant scoliosis, which developed quite rapidly (over a period of about four months before it was enough that I noticed it).

    Thinking that we might should mention some concern re: our own little family carnival sideshow at our next visit, actually. Good thing it's soon. Kind of freaking me out as I revisit past cardiac stuff with this possibility in mind.


    I really appreciate the forthright discussions of connective-tissue disorders here over the past few years. I don't know that I'd have put together hypermobility + scoliosis + another recent quirk, otherwise. Nobody else was going to, either-- because this was something that came out of multiple professional/medical settings that are unrelated to one another.

    This may well explain why she has SUCH pain in her hands after more than about 20 minutes of really hard use-- even after 8 years of piano, she simply cannot practice for more than 30 minutes.



    Schrödinger's cat walks into a bar. And doesn't.
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    HK, that was how it was for me. I never thought much about my flexibility and the rest seemed like unrelated annoying peculiarities. It wasn't until some symptoms got worse after my second child that I started complaining about them more. My friend has Marfans and mentioned looking into a connective tissue disorder. At the same time Lori H. was on here talking about her son's struggles. I mentioned my symptoms to my pediatrician sister in law and she urged me to get myself and my oldest son in to see a geneticist. I was diagnosed in the spring and my son has appointment next week.


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    For anyone interested in seeing a geneticist in or around WA, I highly recommend Dr. Mitzi Murray at UW.

    Here is the link to the genetic medicine clinic:

    http://depts.washington.edu/medgen/clinics.shtml

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    HK, the signs have been there my whole life, with multiple symptoms pointed out independently by unrelated professionals, but neither did I put it together until someone asked about EDS and pregnancy on a board, never having heard of it I looked it up (as you do) and had the "Oh.... oh dear.... oh I need to see my doctor now..." moment. Now THAT was a very embarrassing conversation with the Dr "Hi, I just read about this thing on wikipedia...", at least he'd known me half my life, knew about many of the individual problems already, and knew I wasn't in there every five minutes about something I had read on the internet! He had never heard of EDS either, so he also had to google it and then did the same thing as me "Oh... oh dear... um, you need a specialist...". Unfortunately, not knowing enough himself he sent me to a rheumatologist who diagnosed HMS, not EDS, which does not adequately cover all the health issues I have beyond just hypermobility that are clearly related to EDS. So now I am awaiting a geneticist appointment.

    I don't have the most severe case of one any of the symptoms in particularly but my issues are so wide spread and multi-systemic that together they really add up to big problems and I really wish I had known earlier.

    Considering how rare connective tissue disorders are supposed to be I find it fascinating how many confirmed or likely cases there are on this board, which has a fairly small population based on a different rarity.

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    EDS came up in my thread but reading over here and at EDNS has me thinking this may fit. Those internet pictures and the varying descriptions had me thrown off. I had my son do some of the hypermobility tests mentioned and oh my! It was shocking to see ... esp with hands and fingers.

    My husband has chronic nosebleeds since childhood. They cauterized his blood vessels trying to help and it only made it worse. On his mom's side there is a scary incidence of heart attacks at young ages in the men. He battles tears in the skin on his hands and fingers. Opening things can rip his hands up badly. He has very flat feet and has dislocated his shoulder many times in ways that seem not that traumatic. The last time while putting on a jacket. IBS (esp. the loose stool side) is a chronic problem for him as well. He has a weird jaw (my brother the dentist pointed it out) that closes in 2 different positions. He has the pale translucent skin.

    My son has been diagnosed with "growing pains" many times. He seems to get hurt easily. He has mild scoliosis noted on an xray at 5. As I've mentioned elsewhere he does have Dyspraxia and hypotonia. He had awful reflux as a little person till about 2.5. We have struggled with dental caries--his baby teeth just dissolved and I never understood why as I've only had one in my entire life and we did all the right things. (His dad also gets loads of caries and has problems with teeth chipping on a regular basis.) He has started snapping the joints on his middle and ring finger just by rubbing or shaking them. It's weird. He gets bruises (as does my husband) and can't remember how he got them.

    Hmmm. Wonder if I need a referral? May call the insurance on Monday and double check.

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    I'm bumping this up with a update 3 years later. DS is now 9 and still has coordination issues as well as muscle weakness. He has core strength issues as well as poor results on standardized hand grip testing.

    I took him to the neuropsych he saw 3+ years ago and all of a sudden he is saying that his issues are related to his Chiari and was talking a lot about cerebellum dysfunction. I didn't even bring it up at all as a concern. He had given him a DCD diagnosis before, he listed the Chiari as a diagnosis but hardly said anything about it 3 years ago. Now all of a sudden the cerebellum dysfunction is the main cause of everyything? He even said it can affect social skills and cause his apraxia of speech I can't find anything like that in any of the stuff I'm reading. DS has not been complaining of any headaches or neck pain or anything. So why would the chiari affect his muscle strength and coordination when he doesn't have other more typical chiari symptoms? I'm going to take him to another neurosurgeon, but I find all of this very odd and disturbing.

    update--I am now finding more articles after googling cerebellum rather than just chiari, like this.

    http://www.ncbi.nlm.nih.gov/pubmed/26105056

    http://www.ncbi.nlm.nih.gov/pubmed/26331036

    http://www.uzhelth.org/docs/second-...the%20Cerebellum%20Fredericks%201996.pdf

    Anyway, I am waiting on a report but wanted to put this here as an update...it looks like a lot of this research on the cerebellum is new.

    Last edited by blackcat; 09/24/16 05:47 AM.
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