It's only Tuesday and I can already tell this is going to be a frustrating week.
I am waiting on the insurance lady from my current Rheumatologist's office to call me back with information that I need to fix an insurance claim problem involving some lab work the doctor ordered with incorrect diagnosis codes. My insurance company won't tell me what the diagnosis codes were, and the doctor's office staff claim they can't communicate with my insurance company directly about the problem, so it's kind of like solving a riddle. An expensive riddle.
I am also waiting on a call back from a new Rheumatologist. My sister-in-law's husband comes from a family of doctors, and one of them recommended this guy. Because I am tired of bouncing from specialist to specialist with no results, I made it a point to call and ask if he sees patients with Ehlers-Danlos Syndrome.
"What?" The receptionist asked.
"Ehlers-Danlos Syndrome," I repeated.
"I've never even heard of that. Spell it for me."
Something tells me he's not going to be of much help.
Lastly, I am expecting a call from a Case Management agent at my insurance company. For people with chronic illnesses, they can assign a nurse to your case who will help manage your care and get you the appropriate doctors, tests, etc. All I want more than anything in this world is an upright MRI. You'd think I was looking for a new liver. It's one simple test, one effing test that my insurance company will gladly pay for because I am costing them upwards of 1 million dollars just because I keep seeing doctors that have no knowledge of EDS. Gee, I know! I'll just call and ask the doctor if he knows anything about EDS before I make the appointment!
"I don't know, you'll have to get a referral and make an appointment so we can view your records before we'll know if can treat you," said the less-than-friendly receptionist at the neurologist's office that I called this morning.
It's frustration with situations like this that drove me to contact the Mayo Clinic in Jacksonville about making an appointment. I have a friend that recently returned from the Mayo Clinic and he raved about their thoroughness. I filled out the appointment request online and received a callback within 24 hours.
"We don't have any doctors here that are knowledgeable about your problem," said the friendly Mayo Clinic employee. "All those doctors are in Rochester, Minnesota, our largest branch."
"Well, I don't really need an EDS specialist, per se. I just need a neurologist that knows enough about connective tissue disorders to order an upright MRI so I can be properly evaluated for Chiari Malformation."
"We don't do that imaging here, you'd have to go to Rochester."
Fine, fine. I told him to forward my info to Rochester and they still haven't called me back.
In the meantime, I keep getting worse. Last night, I noticed I now have tremors in my toes. MY TOES! It's neat, because I'm not used to ever moving my toes individually, so it's a more foreign sensation than the tremors in my hands. Neat, and a little frightening. I love new symptoms! Also finding it harder and harder to stand or sit up without being overwhelmed by nausea, headaches and neck pain. It's not the POTS acting up, it's my effing neck. I know it, other Chiari patients know it, and the goddamn textbooks know it. Stabbing pain from Valsalva maneuvers! Check. Hypnagogic hallucination from brain stem impingement! Check. Central Sleep Apnea from brain stem impingement! Check. Headaches originating in the back of the head/neck! Double check. Constant nausea when upright! Yep. Neurological symptoms exacerbated in gravity-bearing positions! Cranial-cervical instability! Long term memory loss! Aphasia! Oh, and my pulsatile tinnitus is coming back, which --upon first glance-- might be confused with a symptom of Pseudotumor Cerebri, except my OP on my lumbar puncture is not high enough... you could be like my first neurologist and assume I have PTC anyway and immediately treat with humongous doses of Diamox, thus making me sicker and bedridden for months. OR (and I know this is ludicrous thinking) you could explore other options... like temporary CSF blockages caused by shifts in brain anatomy in gravity-bearing positions caused by CHIARI MALFORMATION! See what I did there? Full-circle logic.
My current neurologist originally thought I had Chiari, but when my supine MRI came back clear he decided to give me Butalbital and see if I develop a brain bleed. Or at least I assume that's our current plan. If you think I'm symptomatic for Chiari, but then you rule out Chiari, does that mean I'm normal? Jesus Harold Christ, doctor logic baffles me sometimes. Anyway, shortly after that I was sent to a geneticist who diagnosed the Ehlers-Danlos Syndrome. Thanks to the power of Google combined with hours of lying in bed with nothing to do but read medical studies on my iPhone, I discovered that patients with Heritable Connective Tissue Disorders (like yours truly) need upright MRIs because our brain anatomy can shift and move in "small but important" ways when we're in gravity-bearing positions... like sitting or standing up. I called my neurologist's office and left a message, explaining in a few clear, short sentences that my connective tissue in my brain moves around because of the EDS, and I need an upright MRI to truly be evaluated for Chiari. His nurse called me back and said that he needs "proof of that" because he'll have to jump through insurance hoops to get me that test, blah blah blah. I feel I should note that I suspected I had EDS before this doctor ordered the supine MRI, so I suggested to him at that time that we do an upright MRI because I have documented neck problems indicative of CCI. He literally scoffed.
Needless to say, I am searching for a new neurologist. For any of you out there that are experiencing similar problems with physicians unwilling to learn anything new, here's the "proof":
http://www.chiariconnectioninternational.com/docs/Hereditary_disorders_of_connective_tissue.pdf
http://prettyill.com/downloads/Dr._Diana_Theory_rev_03-2011.pdf
And information about the hypnagogic hallucinations and their relationship to conditions that cause brain stem inpingement/impairement...
http://brain.oxfordjournals.org/content/121/10/1819.full.pdf
Tuesday, September 4, 2012
Friday, August 31, 2012
Poppin' & Lockin'... (My Joints, Not the Dance)
On the one hand, I hate myself for starting a blog. "Blogging" seems like one of those self-centered hobbies taken up by entitled white kids, like brewing ones own beer or bikram yoga. On the other hand, the most useful information I've gathered about my medical maladies came from other patients. And since I keep being treated like a freak of nature by my doctors, I guess my problems are pretty rare. To my knowledge, I've only ever physically met one other person with Ehlers-Danlos Syndrome & POTS. I've never physically met another person with Chiari. I had never even heard of Central Sleep Apnea before I was informed that I have it. As for polyclonal hypergammaglobulinemia? Please. Even Google can't help me on that one. So I thought maybe blogging about all of my personal experiences with these conditions (and the neurological condition I suffer from that still doesn't have a name) might help me meet the few other people in the world that have ALL of my problems (I have to believe there are a couple of you out there that know exactly what I'm going through). If not, maybe my blog will at least help someone get through their own struggles a little easier.
To start, I'm 25. I have been diagnosed with Ehlers-Danlos Syndrome. My geneticist thinks I'm some sort of hybrid of Hypermobility Type & Classic Type. I am a 9/9 on the Beighton Scale. I have almost all of the systemic symptoms that are more commonly associated with Classic EDS, but I don't physically "look the part". She thinks the tests are too inaccurate and unreliable currently, so we haven't bothered testing for the specific defects. My mother won't bother seeing a doctor to be evaluated, even though she shares some of my joint problems, because she is an RN and for some reason the nurses I know don't go to the doctor. Anyway, she says there's no point since there's no cure or treatment and I suppose she's right. I also have dysautonomia, specifically Postural Orthostatic Tacchycardia Syndrome (POTS). When I'm upright (sitting or standing), my heart rate skyrockets. My blood pressure doesn't drop, but it stays consistently low. If I'm upright long enough, I get more severe symptoms similar to the warning signs patients with vasovagal syncope get when they're about to have a fainting episode. I shake, my knees start to give out, my vision gets hazy, in a few instances my hearing has gone out completely, and I am physically compelled to SIT SIT SIT ASAP before I collapse. So far, I haven't collapsed yet. Yay? I have Mitral Valve Prolapse (MVP), which is a given with dysautonomia according to my 100-year-old cardiologist. I get palpitations, chest pain, shortness of breath, and a weird-yet-awesomely-trippy humming in my heart. I also have Central Sleep Apnea (CSA). Some of you may be familiar with Obstructive Sleep Apnea, which involves an airway collapse or some other physical cause that interrupts breathing during sleep. My hubby has it, and he wears a super-sexy CPAP to bed every night. My form of sleep apnea is caused by my brain... essentially, it fails to send signals to my body to breathe during different phases of sleep. What causes this, you ask? It's a neurological problem, but in my case I believe it's caused by an undiagnosed Chiari 1 Malformation. Unfortunately, I have yet to find a neurologist that knows enough about EDS and Connective Tissue Disorders to know that I need an upright MRI to evaluate CM1. I keep looking for one, but I swear it's like trying to find a unicorn. I also have: polyclonal hypergammaglobulinemia (I have too much gamma globulin in my blood, nobody knows why as I am too young to have Multiple Myeloma); anemia due to chronic blood loss (I am a very impressive bleeder... rectal bleeds, nosebleeds, you name it); Vitamin D deficiency (so common it doesn't deserve bold lettering); Papilledema (my optic margins are virtually invisible); Degenerative Disc Disease (also common, though maybe not for 25 yr olds); Pseudotumor Cerebri; and Leukocytosis.
I've been evaluated by 21 specialists since 2008. Neurologists, Rheumatologists, ENTs, Ophthalmologists, Neuro-Ophthalmologists, etc. I guess I've given about 50 vials of blood in the past two years. I've had about ten MRIs total, a spinal tap, multiples scans of the arteries in my neck and brain, heart tests, calorics tests, tilt-tables, nerve-conduction studies... needless to say, I am practically a professional patient. I spend my weekends reading abstracts and differentials trying to find something the doctors have missed. If I had known my life was going to end up like this, I'd have went to medical school... except, you know, for the pesky POTS issue of not being able to be upright for more than a few minutes at a time :)
Anyway, here I am. More to come, including fun entries about what one does when the Mayo Clinic says they don't have the kind of doctors one needs, and the joy of disability lawyers!
To start, I'm 25. I have been diagnosed with Ehlers-Danlos Syndrome. My geneticist thinks I'm some sort of hybrid of Hypermobility Type & Classic Type. I am a 9/9 on the Beighton Scale. I have almost all of the systemic symptoms that are more commonly associated with Classic EDS, but I don't physically "look the part". She thinks the tests are too inaccurate and unreliable currently, so we haven't bothered testing for the specific defects. My mother won't bother seeing a doctor to be evaluated, even though she shares some of my joint problems, because she is an RN and for some reason the nurses I know don't go to the doctor. Anyway, she says there's no point since there's no cure or treatment and I suppose she's right. I also have dysautonomia, specifically Postural Orthostatic Tacchycardia Syndrome (POTS). When I'm upright (sitting or standing), my heart rate skyrockets. My blood pressure doesn't drop, but it stays consistently low. If I'm upright long enough, I get more severe symptoms similar to the warning signs patients with vasovagal syncope get when they're about to have a fainting episode. I shake, my knees start to give out, my vision gets hazy, in a few instances my hearing has gone out completely, and I am physically compelled to SIT SIT SIT ASAP before I collapse. So far, I haven't collapsed yet. Yay? I have Mitral Valve Prolapse (MVP), which is a given with dysautonomia according to my 100-year-old cardiologist. I get palpitations, chest pain, shortness of breath, and a weird-yet-awesomely-trippy humming in my heart. I also have Central Sleep Apnea (CSA). Some of you may be familiar with Obstructive Sleep Apnea, which involves an airway collapse or some other physical cause that interrupts breathing during sleep. My hubby has it, and he wears a super-sexy CPAP to bed every night. My form of sleep apnea is caused by my brain... essentially, it fails to send signals to my body to breathe during different phases of sleep. What causes this, you ask? It's a neurological problem, but in my case I believe it's caused by an undiagnosed Chiari 1 Malformation. Unfortunately, I have yet to find a neurologist that knows enough about EDS and Connective Tissue Disorders to know that I need an upright MRI to evaluate CM1. I keep looking for one, but I swear it's like trying to find a unicorn. I also have: polyclonal hypergammaglobulinemia (I have too much gamma globulin in my blood, nobody knows why as I am too young to have Multiple Myeloma); anemia due to chronic blood loss (I am a very impressive bleeder... rectal bleeds, nosebleeds, you name it); Vitamin D deficiency (so common it doesn't deserve bold lettering); Papilledema (my optic margins are virtually invisible); Degenerative Disc Disease (also common, though maybe not for 25 yr olds); Pseudotumor Cerebri; and Leukocytosis.
I've been evaluated by 21 specialists since 2008. Neurologists, Rheumatologists, ENTs, Ophthalmologists, Neuro-Ophthalmologists, etc. I guess I've given about 50 vials of blood in the past two years. I've had about ten MRIs total, a spinal tap, multiples scans of the arteries in my neck and brain, heart tests, calorics tests, tilt-tables, nerve-conduction studies... needless to say, I am practically a professional patient. I spend my weekends reading abstracts and differentials trying to find something the doctors have missed. If I had known my life was going to end up like this, I'd have went to medical school... except, you know, for the pesky POTS issue of not being able to be upright for more than a few minutes at a time :)
Anyway, here I am. More to come, including fun entries about what one does when the Mayo Clinic says they don't have the kind of doctors one needs, and the joy of disability lawyers!
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