Ehlers-Danlos Awareness Month – Fact #4!

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In honor of Ehlers-Danlos Syndrome awareness month, here’s EDS fact #4 (info provided by the EDNF): Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. 

5 thoughts on “Ehlers-Danlos Awareness Month – Fact #4!

  1. Hey Katie,
    Thanks for all the EDS posts. Had no idea May was a special month–haha. Some EDS info that may be of use to you as I know you’re still not 100% sure–spontaneous mutation is quite rare with EDS (I can’t find a scholarly article on it at the moment, but I’ve read that and believe my geneticist mentioned it) and all of the people I’ve spoken with online can trace their EDS, as can I, although my mother is rather asymptomatic (grandfather was more EDS-y). While it runs true by type, there is a severity spectrum, as in my family. Not sure if Marfan’s is like that or not.

    Also, this would not apply to you, but there are several very rare types (as in around 50 cases in the world!) that are autosomal recessive, meaning you would need each parent to carry the super rare gene (Type VI, which gets keratoconus too, is one of those). So those throw off the typical 50/50, which is true for most of us, as you mentioned. If your mom has little EDS symptoms (and you can’t trace it beyond her), I’d say it’s probably unlikely you have it due to a spontaneous mutation (presuming your father is/was *normal*) . New research project for you–I did find info, but not in any journals and we can’t access them all like a Dr. can. OK,, my vision is going, going, gone now…
    A (Thanks again for all the EDS info you posted!)

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    • Thanks for the info as always!! I had been trying to find out the rate of mutation in EDS – yours is about the third different number I’ve gotten lol!

      So far the most likely to be accurate number I’ve seen says that it’s estimated about 50% of EDS cases are caused by spontaneous mutation. Also when I asked the EDS group about it they all answered that it’s 50%. Here’s the link to one of the other articles in case you’re ever bored http://www.ehlersdanlosnetwork.org/Clinical_and_genetic_aspects_of_Ehlers_Danlos.2.pdf

      Marfan Syndrome is definitely like EDS in severity variations, even in the same family.

      And I did just recently learn when I was researching for the facts that a couple of types of EDS are autosomal recessive. That I didn’t know before! (It will be mentioned in the facts later on) :) I do see that I forgot to mention that in the comment below. I’m habitually used to talking about type 3 (the type I’d most likely have if I did have EDS based on my symptoms) without specifying it or separating it from the other types. I think I got into that habit from dealing with and talking about MFS for so long – just used to referring to it altogether.

      Hoping you’re well – or should I say as well as can be lol

      Hugs,
      Katie

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      • Hey,

        I’ve never heard anything about 50% (found it within the article–thanks!). What the heck did I read? Maybe it’s because I’m always talking to the Type III crowd as it’s so much more common. Weird. Why can’t I remember what the geneticist said? She did this big family tree and everything. I blame my pain and vision for it all!!! Haha.

        Well, I think another problem with diagnosing people (who aren’t super familiar) is that you don’t need all the criteria. I read about my type and am going, “?” I’m not overly hypermobile (but am in certain joints) and only have slightly hyperextensible skin–not crazy about how they grouped I and II. I have enough oddities to not doubt my Dx this time, though (especially the other skin issues). Oh, I wouldn’t even bother with those recessive types, so rare it’s more likely to get struck by lightening. :)

        A

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    • Not always. Like Marfan Syndrome there is a chance of ‘spontaneous mutation’ – meaning you end up with the disorder but neither of your parents have it. With MFS this happens about 25% of the time. I’m not positive what number that is for EDS but I think it would be about the same.

      For now this seems to be how I got mine, but I wouldn’t be too surprised if my mom actually passed it to me (she has many rare, mysterious medical problems, not to mention we are extremely alike in virtually every way).

      If you have either of those disorders there’s a 50/50 chance that each child you have will also inherit it.

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