Does anyone know about Ehlers-Danlos?

Discussion in 'General Parenting' started by tiredmommy, Jul 17, 2011.

  1. tiredmommy

    tiredmommy Site Moderator

    A dear friend (you know who you are!) suggested I look into it for Duckie. She has hypermobile joints, she had stretch marks on her skin this spring (running vertical at the top of her leg), she has cough variant asthma with her main involvement being in the smallest breathing tubes in her lungs. And what my friend couldn't have known is that my father was diagnosis'd with an unruptured aortic aneurism less than a year before he died. It can be a very serious condition and is anecdotally linked to those with autism. We all know that while she doesn't carry an Autism Spectrum Disorders (ASD) diagnosis due to being very social that she does have several traits.

    I'll be discussing it with her doctor about screening her but was wondering if any of us has any real life experiences. I was looking on the internet and only could find scholarly stuff or horror stories. :crying: Any insight would be appreciated.
  2. keista

    keista New Member

    Interesting how you hear about something, then it seems to pop up everywhere!

    Sorry, I have no info, but do have two friends investigating this for their kids. One of them first got a referral for Marfan Syndrome, and had that ruled out, but still needs to go back for further genetic testing to find out if there is a problem with her son's double jointedness. Ehlers-Danlos came up as a possibility when talking to another friend who identified the symptoms for his daughter. He's still yet to make appointments to check it out.

    Did you come across the Ehlers-Danlos Foundation website?

    Don't fret until the screening. My friend worked herself into some serious anxiety before her son's screening for Marfan. Her biggest concern, of course, were the heart related issues. His heart was thoroughly tested as FINE by these experts who know all the subleties to look for, so now it's just trying to find out if the boy has 'something' that may benefit from special care or treatment.
    [h=2][/h] [h=2][/h]
  3. DammitJanet

    DammitJanet Well-Known Member Staff Member

    There was someone on here in the past asking about it...or something like that. Try doing a search.
  4. ThreeShadows

    ThreeShadows Quid me anxia?

    I know a little about it, TM, because for a long time we thought the boys had it. Fourteen y.o. difficult child 1, tall kid, was able to hide in our dryer and both kids could do some very strange things with their skin and joints. We made an appointment with a geneticist but difficult child 2 ran away and we had to cancel so we never found out.

    I can tell you that physician husband tends to find death and gloom evey chance he gets but he never went hysterical around this issue!

    I remember reading that a lot of contortionists have Ehlers. Don't panic TM, sending hugs.
  5. Marguerite

    Marguerite Active Member

    Not sure, but I think stretch MARKS probably preclude Ehlers-Danlos. Stretch marks happen when the collagen fibres under the skin go kazang! And in Ehlers-Danlos, the skin is ultra stretchy, I thought.

    I have observed that there seems to be a subset of autism (possibly of high-functioning autism and Asperger's) which also includes hypermobile joints and also possibly poor coordination. husband is mid 50s and can still touch the floor with palms of both hands, knees straight. When I saw him do this for the rheumatologist 15 years ago, the guy said, "No man your age should be able to get close to doing that."

    But he doesn't have Ehlers-Danlos or the rheumatologist would have diagnosed it.

  6. keista

    keista New Member

    I don't have hypermobile joints, and I can still do that at 42 and WAYYYYYYYYYYYY too overweight. As a matter of fact, I could still do that up until the 8th month of pregnancy. Then I could only touch the floor with my finger tips.
  7. gcvmom

    gcvmom Here we go again!

    TM, she could have just gotten the stretch marks from a growth spurt -- she is looking like she shot up recently. I know my easy child has a few in other places. And Duckie is at that age when girls can do a LOT of growing overnight.

    I hope you don't find anything to confirm your fears.

  8. Marguerite

    Marguerite Active Member

    At the risk of stirring up some ire here, men tend to be more inflexible in so many ways! Seriously - the rheumatologist told us that guys especially lose that level of physical flexibility fairly early.

    So keista, put it down to you being female. And yes, probably a bit hypermobile too...

  9. smallworld

    smallworld Moderator

    TM, I hope it's not Ehlers-Danlos. Please try not to worry.
  10. tiredmommy

    tiredmommy Site Moderator

    Thanks everyone.
    Keista- I'll check out the site.
    Janet- I'll do yhat.
    Marg & gcvmom- she also had some nasty bruises where the stretch marks were.
    SW- There are several types but the most serious is the vascular type. I'm truly only concerned because of my father's medjcal history.
  11. DammitJanet

    DammitJanet Well-Known Member Staff Member

    I also saw that on another message board I was on but cant remember the name. It may have been a prohealth board. Check there too.
  12. ML

    ML Guest

    Please keep up us in the loop with what you find.
  13. tiredmommy

    tiredmommy Site Moderator

    Here's a few other tidbits: my father had to have folds of skin removed from his eyelids as they were actually affecting his sight.. I was very hyper-mobile as a kid (it was rather freaky, lol). I can't rest the palms of my hands on the floor anymore, but I could before I hurt my back a few years back. I've had varicose veins since my early 20's. My uterus hemorrhaged after childbirth. And there are investigational studies going on that are looking at large head circumferences as a possible link to connective disorders, Duckie's head circumference was in the 90th+ percentile as a baby.
  14. flutterby

    flutterby Fly away!

    It was the hypermobility, the weak joints (I think it was), and the bruising that led me to think of EDS. The stuff you describe with your father definitely needs to be given to the doctor.

    I don't know anything about it from what I've read, so I have no firsthand experience in what living with it is like. With all of the blogs out there, I did a google search on "living with Ehlers-Danlos and got this:
  15. flutterby

    flutterby Fly away!

    by the way, hypermobility means more along the lines of things like being able to bend your thumb back to your wrist, bending your pinky finger further than a 90 degree angle, etc. I was always extremely flexible - up until I got sick. I was amazed when difficult child started gymnastics to see so many little girls (around 5-6 years old) who couldn't get their legs into a V without their knees sticking up. I always thought all kids were flexible. But, I don't have the hypermobility referred to with EDS.
  16. 1905

    1905 Well-Known Member

    My easy child's back is covered in stretch marks!!!! He's a skinny kid, tall, wears glasses and we had him to Childrens Hospital of Philadelphia they did every test, for fear of Marfan. He didn't have that, ok, but even if your child has this, the biggest fear is the heart damage. If there isn't heart damage and she does have the gene, there is medication to prevent heart damage. But once the damage is done, it's done. Ehler's-Danlos is not as bad as Marfan. My son had to see a specialist from Chicago....I think there's like 5 top Marfan doctors in the US, and the one from Chicago comes once a month to a certain hospital near us. Go on the national Marfan website, call them, they'll send you SO MUCH great info on Ehlers-Danlos, and everything related. My son's back is COVERED in large stretch marks, it looks like somebody whipped him, plus his knees, hips and thighs have lots of little ones. He has something, but it doesn't have a name- that sounds strange after seeing all kinds of specialists, but there is no heart damage. That is the bottom line, because there is medication if there was anything wrong.