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.