My Journey With:

Hypermobile Ehlers-Danlos syndrome (hEDS) ~ Postural Orthostatic Tachycardia Syndrome (POTS) ~ Focal Impaired Awareness (Complex Partial) Seizures ~ Fibromyalgia ~ Chronic Myofascial Pain (CMP) ~ Polycystic Ovarian Syndrome (PCOS) ~ TMJ Dysfunction ~ Bipolar Disorder Type I Rapid Cycling ~ Migraines ~ Gastroesophageal Reflux Disease (GERD) ~ Obsessive Compulsive Disorder (OCD) ~ Keratosis Pilaris (KP) ~ Complex-Post-Traumatic Stress Disorder (C-PTSD) ~ Panic Disorder ~ Generalized Anxiety Disorder (GAD) ~ Social Anxiety Disorder (SAD) ~ Nonsuicidal Self-Injury (Self-Harm) ~ Piezogenic Pedal Papules ~ Hashimoto's Thyroiditis ~ Irritable Bowel Syndrome (IBS) ~ Seasonal Affective Disorder (SAD) ~ Specific Phobias ~ Chronic Headaches

Thursday, November 3, 2016

30 Day Chronic Illness Challenge: Day 3

Day 3: How did you get a diagnosis?

Since I have multiple diagnosis, I'm going to cover only a few: Ehlers-Danlos Syndrome (EDS), Postural Orthstatic Tachycardia Syndrome (POTS), Polycystic Ovarian Syndrome (PCOS), and Bipolar Disorder.

I have been in pain as long as I can remember. Some of my earliest memories are of crying and asking my dad why I hurt so much all of the time. My parents took me to doctors for years, and we kept getting the same run around. They all said that my labs were normal, so there couldn't possibly be anything wrong with me. I was diagnosed with fibromyalgia when I was fifteen. After that, any pain I ever complained of was automatically dismissed as being a part of fibromyalgia. My hip subluxed all the time, and I figured out how to get it back in myself. I didn't exactly know what was going on in the joint, I only knew what I had to do so I could walk again. That started around age fourteen. It wasn't until a rheumatologist commented that she'd never seen anyone so hypermobile that I even began to suspect EDS. I looked up hypermobile joints, which led me to looking up EDS. I read a lot about it, and watched many YouTube videos on it. I was pretty sure that's what I had, but my rheumatologist refused to send me to physical therapy or to even consider I might have EDS, since I can't touch my tongue to my nose. As a side note, quite a few EDSers can touch their tongue to their nose, but you don't have to be able to do so to get a diagnosis of EDS, and not all EDSers can do it. I went to another rheumatologist who said it didn't matter if I had it, as there is no cure, so he didn't think it was worth investigating. I finally convinced him to give me a referral to a geneticist. He was incredibly rude, so I didn't see that rheumy again. I then went to the geneticist, who talked down to me and was very rude. He said I had EDS or Hypermobility Syndrome, but it didn't matter which since it's uncurable. I got the notes from the appointment and throughout the report the doctor said things that never happened. He even said he spent well over an hour in the exam room with me, when it was actually only twenty minutes. Reading his notes about the appointment was strange, because it was like reading a piece of fiction someone put my name in. I then went to another rheumy, still looking for someone to take my EDS seriously. This doctor said he definitely thought I had EDS, but that he didn't feel qualified to care for such a complex patient. So, back to looking for another rheumy I went. The next one I found was in the same office of the rude doctor who sent me to an even ruder geneticist. She is the doctor I see now. She's actually a Physicians Assistant (PA) in rheumatology. I'm not happy with her, but I searched a long time for a doctor and I'm keeping her. I've been seeing her for years now. Meanwhile, I made an appointment in St. Louis with a very well known and new to the area geneticist at Children's Hospital, named Dr. W. She has done research in related areas, and EDS is one of her specialties. I had to fill out a huge stack of paperwork to send back before my appointment, which felt promising, as no other doctor had ever gone into so much depth. She was so nice! First I saw a genetic counselor, then Dr. W and the genetic counselor together, and then the genetic counselor again. She gave me the most thorough exam any doctor every had. She carefully inspected every joint, my skin, my scars, my eyes, the roof of my mouth, everything. I scored a 7/9 on the Beighton Score. I went back to my PA rheumy armed with information from Dr. W and pamplets from the Ehlers-Danlos National Foundation (EDNF), which is now The Ehlers-Danlos Society. I later got copies of my records from my PA rheumy, and she seemed quite annoyed that "the patient keeps giving me material on EDS." After that I stopped, though if you have a receptive doctor, I highly recommend printing off this page, as it's considered the "EDS Bible" on hypermobility type. (The same information on the Classic type is here, and here on the Vascular type.) These cover the basic genetics involved in EDS. I was diagnosed by Dr. W with the hypermobility type and as a spontaneous mutation, since I'm the first in my family to have it. My PA rheumy treats my EDS, and I see her once a year.

My POTS diagnosis was an ordeal as well. I first started suspecting POTS once my EDS diagnosis was confirmed and I began to show more and more symptoms of POTS. I scheduled an appointment with a cardiologist, and she scheduled an echocardiogram (an ultrasound of the heart), and the tilt table test. After the tests were completed, the technician said I was normal, so I didn't ever go back to get the results. A year later, when looking over the doctor records I'd ordered, I noticed that the cardiologist had put a note in my chart with the diagnosis of POTS. I had never gone back because the technician said everything looked normal. I shouldn't have done that, as she isn't properly trained to interpret the test, only to perform it. I went back to the cardiologist and she (and her supervisor) asked me all sorts of questions about EDS and what it was like to live with it, as they'd never met anyone with it. She told me she had no idea how to treat POTS, so her advice was "eat a heart healthy diet and call me if anything changes." It's gotten a lot worse since then, but I no longer have faith that I can find a doctor competent enough to treat me.

Since I went through puberty two things were wrong: I became extremely depressed, and my hormones seemed out of control. My mom and dad tried everything to make me "snap out of it" or "pull myself up by my bootstraps." They finally took me to therapy after three years of depression. I was diagnosed with Major Depression and given Paxil. My psychiatrist warned to "watch for manic depression," but we didn't know what manic depression even was. By age fifteen I'd had three stays in a psychiatric hospital. For years doctors couldn't decide what was going on, and my hormonal issues were passed off as being part of my mental illness. It wasn't until I was nineteen and in a severe manic episode, that I was diagnosed with bipolar disorder. If I'd been properly treated from the time it showed up at age ten maybe I wouldn't be disabled from the bipolar, but that didn't happen, and my bipolar limits my life and makes demands on me that are too disabling for me to live a normal life. Still, I knew I also had a hormonal problem. I kept going to doctors, telling them I knew it wasn't normal to sometimes go months with no period, but they kept brushing off my concerns as no big deal. It wasn't until I moved here when I met DH that I demanded to see an ob/gyn to test my hormones. I got in to see the ob/gyn I have today, and he tested my hormones and did an internal ultrasound of my ovaries. They were covered in the tiny pearl-like cysts that so often (though not always) come with PCOS. 

I have had a horrible problem finding doctors that care, but I do have a caring ob/gyn and endocrinologist, and I'm happy about that. 

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