In September 2012, I was officially diagnosed with Hypermobility Ehlers-Danlos Syndrome, at Molecular Medicine, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles. This appointment was inside the Children’s Hospital. That’s how it was organized then. It’s different now.
Last time I had a genetics appointment at Cedars was in 2016. Then I was seen at the Heart Institute. The genetic counselor explained to me that I was seen there because many heart defects are caused by genetic mutations, so the Heart Institute has a Genetics Department. I do not really belong there. I belong at a connective tissue disorder clinic, which does not exist.
Here I am sneaking a selfie while waiting for the genetics counselor. No pics allowed at Cedars! I was there in 2016 to fight for more DNA study.
Doctors tell me not to bother with DNA work. They tell me I am wasting my time and money, that the cause will not be found. I do not listen. They have their point of view. I have mine. This is my life, and I will decide what is valuable to me as a patient. I have enough vision to understand what getting a cause found would mean for my disease. This is not a waste of my time and money. I smile while I argue with them, and persist on asking for what I want. Où est mon défaut génétique?
Back to my official diagnosis in September 2012, I have to say that was a great appointment. It will always be one of my top five doctors appointments. I keep a list. This is my life and how I choose to feel about it. You do what you want with yours.
I’d known for years what was wrong with me. I’d heard all the bad news already. So this appointment was pretty much a social call, like a lot of my medical appointments are. They go like this: I already know how little you can do for me, no need to dwell on that, so let’s enjoy the time we have together, shall we?
A genetics consultation is the toughest appointment to get. They have only a certain number of slots for certain diseases. To get scheduled, you have to prove that you have the disease. But isn't that why you are coming?
Cedars scheduled me because Dr. Plance wrote a letter saying I have Ehlers-Danlos. I spent months rounding up my medical records and giving them to Mr. Pennington so he could drop them off at Cedars on his way to work. They wanted to see pretty much everything.
My appointment was two hours of me-me-me. We went through my entire medical history and everything I could remember about my family. We talked about the very strange things that had happened to me that doctors said they had never seen before or could not explain.
The geneticist inspected my scars and my skin and skeleton. She bent my joints backwards. I got a 9/9 on the Beighton, which is either a perfect score or total failure, depending on your point of view. The Beighton clocks how far back your joints go. I make myself proud!
All of my joints go backwards, but my small joints are my loosest, she told me. Turns out everything that ever went wrong with me was just a practical joke from Ehlers-Danlos. Ha ha ha. Without my little collagen manufacturing problem, I’d be just about perfect.
This was an important moment in my medical career. In my life, really. I felt very understood. It is a problem to go through life incredibly sick with no idea why or if it is even real. That can cause terrible self-doubt and confusion. It can also create a deep connection to yourself, beneath all your flawed collagen. It is good to know who you are, however that came to be.
Because we do not look sick, someone with EDS may have a lot of denial and projection. If you were like me, the sickest, the most severely affected in your family in which no one was diagnosed, perhaps you got ridiculed and humiliated from your EDS family members for being unable to keep up, too. It made them feel better about the dirty secret they were hiding: that they had noticed they were not like other people, they were somehow deficient and weak, and life was something of a mysterious struggle.
But I hope that did not happen to you. I hope you had loving parents who insisted doctors explain your early-life joint pain and fatigue, and why you were so fragile. Remember, there was a time when there was no internet, and you had to rely on other people to get information. That was the Dark Ages.
I have met people my age whose parents fought for them, back when doctors were too smart to open a book and figure you out, and preferred to shame you for your physical complaints. I am envious.
At UCLA Orthopedics in the 1980s, and at the pediatrician, podiatrist, back doctor, no one even tried to diagnose me, and some snickered at my pain, while they suggested wacky surgeries for my skeletal deformities and sent me to endless physical therapy that did nothing. So which was it: something actually wrong with me or was it all in my head? They never clarified. My parents were not interested. I was left to manage my appointments on my own, if I could even get them to take me to the doctor. Later a psychologist told me I was just depressed, but if that burning arm pain didn’t go away, I should see a doctor.
Depressed? I was too sick to participate in life. I was relentlessly made fun of for that at home. I was aching always. It was so hard to walk around school with my backpack and to tolerate sitting in class. I was so tired all the time and distracted by my EDS brain. Being depressed was a far later consequence and the least of my problems. In the rare instances that someone was kind to me and made me feel safe in a world that was too rough and heavy for my delicate body which I was always protecting, it made me so very happy. So I guess was not actually depressed. I was very ill, being mistreated by doctors and medically neglected by my parents. Is that in the DSM? Is there a diagnosis for: YOUR LIFE NEEDS A-FIXING, YOU ARE SURROUNDED BY CRUELTY, AND IT WOULD BE CRAZY TO FEEL ANYTHING BUT AWFUL ?
That appointment at Cedars-Sinai Medical Genetics Molecular Medicine in the Childrens Hospital in 2012 was more important to me than I realized. I wish I had gotten over there sooner for an official genetics evaluation. I had no idea that is what it would be: my life of suffering acknowledged and explained by doctors who know what they are talking about.
But it gets better. I left there with a report that is a thorough summary of my medical history and my diagnosis, which I have given to every doctor who has seen me since. That report alone was worth the price of admission. Doctors do not have the time to figure out if you really have what you say you have, when it is something rare and poorly understood. Has the doctor even heard of Ehlers-Danlos Syndrome? Probably not, although a podiatrist told me there was a question about it on his medical boards.
Upon the start of a new relationship, the doctor will read my Cedars genetics report and say something like, “Oh, like Marfan Syndrome!”
I cheer, “Yay!!” The doctor will smile.
Marfan Syndrome is a better-known, similar disease. I have some skeletal features of Marfan Syndrome, as many of us with EDS do. I happily point that out to the doctor. I want to make the doctor feel okay about not knowing anything about me. That is the best I can do with these circumstances.
My report from Cedars keeps the appointment moving. The doctor can relax, make a mental note to read about my rare disease later, and try to do something helpful for me now. Since more likely than not that is not possible, we can simply enjoy the time we have together. Shall we?
In Paris this summer, I visited the Medical History Museum which was at the Paris Descartes University Medical School.
I enjoyed my visit. The only other visitors there were French medical students. As per usual in France, finding the exit of the medical school building was a challenge. Où est la sortie? is the French phrase I used the most on my trip, besides Où sont les toilettes? as the French also like to hide the bathrooms. If there is a sign for either of these, it will likely be pointing to nowhere.
This was an exercise in gratitude, that cost me only €3.50. Am I glad that modern medicine has come as far as it has. There was a time when no one had a clue about anything, and all they could do was cut something off, which is why the first doctors in Europe were barbers, because they already had the tools.
You do not have to be able to read French to get the point.
Feeling a little more grateful, I hope, and a little more patient with the medical world? That is the best we can do with these circumstances. That, and support the Ehlers-Danlos Society.
EDS is no one’s fault.
Où est mon défaut génétique?