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Getting a diagnosis for a chronic illness is everything.  It does not mean you will get better per se, but you finally find that weird box that all your symptoms fit into and some solace comes from that.  When I connected the dots after getting keratoconus and stumbled upon Ehlers-Danlos syndrome (EDS) and had my “Things that make you go hmmm” moment and then got a diagnosis of EDS type II (classical type) confirmed by a geneticist, it all made sense. I have zero doubts about my diagnosis and personally, I think my textbook case should be used in the textbooks so doctors can learn to connect the dots, as well.

It seemed like a closed case 6 months after my diagnosis, but EDS is a genetic disease—in type II it is autosomal dominant—and aside from those who are born with it via a spontaneous mutation, you only need one parent to carry the gene and the chance the affected parent will pass that gene on to their offspring is 50%.  Flip the coin.  It is quite clear that EDS type II came from my mother—who has a rather mild form but some obvious type II symptoms—and she inherited it from her father, who had a more severe case. This is documented in my genetic report.  More information on classical EDS (types I and II) and basic, genetic information can be found here.

Just to up the ante, I do not have a good relationship with my mother.  She never bonded with me, I have little recollection of her from my early childhood, and then have awful memories of her from around age 11 on as my father took an emotional hike and I got stuck with her until I decided that chillin’ in skeezy, 1980s, downtown Seattle at 13 via a bus pass and living with friends was a better option than dealing with my mother and the dysfunction in my home.  As an adult, she was a chronic burden, and I got stuck raising my younger brothers for awhile when I was in college due to her inability to do so after my father divorced her.  Then, I had to deal with her chronic phone calls for no apparent reason while at work during my pre-illness, workaholic, career years.  She was a ball and chain tethered to my ankle for too many years to count and she was supposed to be the parent—not I.

Once I became sick, things deteriorated further with my entire family and her lack of ability to be a mother was more apparent than ever.  She did take advantage of my illness to bolster her poor me story, however, which is the only story she seems to tell.  She has many acquaintances, but no close friends due to her closed off nature, yet in time her entire circle knew about her hard knock life due to her sick daughter, although they had no idea that she did not even have a relationship with me. Nonetheless, this became her story for over a decade as it apparently worked for her—ol’ Johnny One Note.

Suddenly, however, things began to change once I got a diagnosis.  My mother revealed more and more EDS symptoms that she had, which she previously dismissed when I inquired about them for myself.  She would call my cell and not pick arguments with me for the first time in my life and while she is a passive listener who never has any suggestions or advice, at least she was not verbally abusing me on the other end of the phone.  Dare I say she had a guilt complex that my 12 years of torturous pain, illness, and now impaired vision—not to mention losing my career, financial security, and entire life—were all from her defective genes? After all she had done, or not done, for me—I do not hold her responsible for giving me EDS.  She did not even know she had it herself and we thought a lot of my grandfather’s symptoms were from his rheumatoid arthritis.  Who would really know about Ehlers-Danlos back then?  Most doctors still do not know what it is.

Well, all good things come to an end, of course.  My mother, who is passive and does not have a voice of her own or an opinion on anything for the most part, was just trotting around China with my step-father, a retired physician, as they take extravagant vacations a couple times a year.  She does not have a clue about medicine or medical research, let alone how to use a search engine or a library.  Somewhere on the guided tour in China—so typical they take tours—she met all sorts of new friends from Australia.  Note that making new friends is her entire reason for living and then she needs to tell everyone about how popular she is.  Obviously, my mother told the sob story to her new friends.  Well, as a result, she soon learned—possible over a lunch of pricey, shark fin soup—that one of her new BFFs had Lyme disease and my mother hung on to every word.

Let me preface this by saying I was tested for Lyme disease twice within the last 10 years, although it was the test that is not very sensitive.  I had a couple of positive antibodies each time, which is not uncommon, but when discussing if we should order the pricey, sensitive test the second time around, my doctor and I decided to pass as I had no symptoms of Lyme disease, never had a bullseye rash, and the tick that carries it and transmits it to humans is very rare in any area I have lived in or traveled to.  If I look at the symptoms of Lyme disease even now, it is so far out in left field I would never consider it.  Therefore, it was crossed off the list.

My mother knows my EDS symptoms, or at least I told her what they were a thousand times.  The more I research EDS type II, the more and more it fits.  How she heard this new BFF describe Lyme disease and then came to the conclusion that this is really what I have and that my textbook EDS type II is all wrong is beyond me.  Was my Johns Hopkins-trained geneticist having an off day when I saw her, as well? Now, I would so love to blame this on her lack of knowledge on everything aside from shopping, lunching, and throwing parties with lots of pricey alcohol, but I suspect she decided to play doctor for a reason, without the honorary medical degree I have acquired after more than 10 years of hardcore medical research on the wrong disease: my misdiagnosis. Why would she even be interested in my health when she never was before—and now that I have a clear-cut diagnosis, why would she question that?

It is so obvious, after all.  It is all about her, like it always is. She gave me a genetic disease and now she is not able to tell the sob story without implicating herself in the process. Instead of acting like a mother who offers support or even someone who can relate to a couple of my symptoms as she has the same disease, even if in a non-disabling form, she is now set on finding a differential diagnosis in order to not be the one responsible for my illness and disability.  That is precisely why she was never a mother to me and never will be, not that I would have a clue what having a mother is even like.

The final stage of the five stages of grief is acceptance.  It seems that a genetic disease, as opposed to my former misdiagnosis, would be a hair easier to accept.  There is literally nothing one can do to prevent it, so it removes all of the, “If only I had done x, y, and z.”  Yet, how can I learn to accept all that has been put on my plate if some people cannot even accept the diagnosis?  I would so love to put my mother on the next cargo ship back to China, but as she cannot do anything on her own, I presume she will fall overboard, be eaten by sharks, and then be ladled out as shark fin soup to the next round of wide-eyed tourists savoring the exotica in Hong Kong.

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  1. Dawn says:

    A, sorry you don’t have much of a support system to help you deal with your illness. I know what it’s like to have unsupportive parents, so I am always here if you need to vent.


  2. The importance and significance of getting a diagnosis is huge. I can’t even begin to imagine how so very difficult this must be for you – this whole situation with your mother. Sometimes, as mothers grow older they can be a little off. But this is way too much. My daughter values my support like oxygen. She told the neurologist I was a super mom (supporting her illness) and that I was the only reason she was still holding on to life. At that I thanked her but really, I know I am just doing what I have to do as a mom. For you to have to go through your condition and situation on your own is already bad enough as it is (i think it’s terrible) without her having to shed any kind of shade, doubt, or denial she may be feeling (whether out of guilt or not). I don’t imagine you could speak to her, right?

    I think this post is very significant and should be read by all mothers because sometimes we don’t realize the importance or impact of things we do or say and we really need to learn from this. It makes me realize how important my actions and support are to make things easier for my daughter – no matter how difficult – and makes me want to fight even harder. I thank you for this.

    I hope one day your mom “wakes” up so that you can find peace with this. This is definitely one thing you shouldn’t have to deal with (feelings or otherwise).

    • Hi Sheep,

      Thank you again for your insight and glad you got something from this. You are a super mom–don’t worry about that one! Unfortunately my mother isn’t going through a phase or just getting older and she’ll never wake up (sigh) due to some sort of *issues* she has. She’s been emotionally neglectful and verbally abusive my whole life and having to deal with something serious for once (my illness) just set it off more. She hides from reality through her frivolous, weird lifestyle and alcoholism. I don’t know why she had children, as my father never wanted any. She likes babies and then loses interest as they age (I saw this with her step-grandchildren), so I presume that is part of it.

      As I wrote, I really have no idea what a mother is, as I’ve never had one! The mothers with sick children who may stumble upon this shouldn’t worry since they care to learn more and making little mistakes is par for the course–this is a lifelong saga. Conversely, my mother believes she’s perfectly normal and an exemplary mother (she also thinks I still have the misdiagnosis, too!). Luckily, she’s in another state as I don’t have any family here. What I said about being on my own for the most part since age 13 is true (I lived a transient life)–so I’m thankful the EDS finally blew up at age 27, as she would never have been capable of doing all that you do for your daughter (she couldn’t even raise my younger brothers, as mentioned, in her late-40s). My situation also doesn’t interest her and intervenes with her social life, so things could have been worse.

      As for me, I don’t care that much as I don’t know what I’m missing as mentioned, hence being able to make fun of this all. It’s also why I’ve never mentioned her in the 9 mos I’ve been blogging. I just hate people getting in my way, so I imagined her being turned into shark fin soup to offset her current shenanigans. Haha. I had to come up with something to post on! I certainly don’t want my mother or crappy family to be my sob story! I detest sob stories. Nonetheless, I do think the five stages of grief are important and do believe her actions are getting in the way of that. What’s new? She’s always in my way… Been in the way since the late ’70s!

      Talk soon…
      A 🙂

  3. Oh yes, forgot to add that the shark fin soup part was so funny – my favorite part. Loved it! Lol

  4. Glad you get my dry sense of humor! I was worried about that joke all day, which I thought was hysterical, but some people are like, “wtf?” with my jokes. Lol! I was also worried I’d come across as some mother-basher, but people just don’t know what I went through in my life and I left out A LOT! I think I left out everything really bad, actually. I also purposely didn’t post this on Mother’s Day, although the timing of this all was weird! Well, now you know a little bit more about me and why I’m a survivor!

    Thanks for the like, btw! Just think of me next time you go out for Chinese.
    A 🙂

  5. I actually laughed out loud when I read that part. And you don’t sound like a mother-basher. lol

    And yes, I’ll think about you when I go out for chinese! lol

  6. Oops! Chinese FOOD that is…

    • Lol! I grew up eating Chinese (a bit of a stereotype) and we always say Chinese, Thai, Vietnamese, etc. No mention of food in there. “Feel like Chinese?” Haha. I never thought about that. My grandfather was famous for finding hole-in-the-wall restaurants in Chinatown, where he would meet the owner and get a tour of the kitchen, and then we’d all go on Sunday night–where we’d run into other families we knew. There’s a famous Jackie Mason joke about Jews and Chinese FOOD. So funny–probably had that in my head as I wrote this post, too. 🙂

  7. dyspatient says:

    Are our mothers related? I’m sorry that yours is like this. I think having a lack of supportive parents who actually parent makes dealing with things like trusting doctors more difficult. We don’t have a deep belief that it’s anyone’s job to actually take care of us.

  8. That said a thousand words. It’s why I have to do everything on my own and be my own doctor (well, they really do suck here!) and on and on. It’s always been my job, so why would it be any different now? I freely admit that I envy sick people who have normal, supportive families. I think it makes a huge difference. I thought that maybe having a real disease (they didn’t believe in the misdiagnosis) would change things, but it didn’t. Well, nothing I can do but make a joke out of it. Our mothers could be related if you get that DNA test. Haha. I don’t even look like my mother and was convinced for years I wasn’t related to her! I guess the EDS ruined that theory. I’m her 1st kid and no pregnancy pictures or anything! I figured my dad (my older, male twin) was screwing around and some lady dropped me off in a basket and rung the bell, but no. Now I’m genetically stuck with her forever. Ugh!

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