- CASE FILE
Seen lots of doctors to count, have a mile long list of diagnosis' and on many meds... Yet whatever this is, continues to progress. Help!
ABOUT THIS CASE FILE
I'm hoping someone has insight or anything that may help me continue to solve this puzzle... I'm a medical anomaly.
My story, so far, of navigating through the chronic illness world:
I know there are commonalities amongst my various diagnosis'. Still working on my puzzle.
So I have been diagnosed with such a variety of things and I can tell they tie together but I dont yet know exactly how...so it started in early childhood with tremors (now called essential tremor), forward hunch of my shoulders (Kyphosis), sudden onset of Seizures at 12(now called epilepsy). I've always had high levels of pain in muscles and joints, but I didn't realize it...pain is normal to me. I'm not sure I know what it's like not to be in pain. As a child this was dismissed as growing pains, ect...as an adult I finally got insured and told my husband I needed to seek help and he agreed. He's seen a few really bad seizures, tremor is intense at times, pain is bad, I started having the pulling of muscles and especially cervical dystonia...my neck and shoulders were pulling to right and the pain and discomfort were unbearable. Botox was tried over a year and a half only to have Dystonia become generalized now...when I knew something bigger was going on because I was still in tons of constant pain, having ticking episodes (Parkinsonisms. BTW my Dad was dx with Parkinson's) and jerky involuntary movements (myoclonus) and now was having hemifacial spasms that are like a beast! I looked like elvis with my lip pulled up and my one eye droopy...:-( so my neuro at the time says "I just can't get you any relief so this must be psychogenic in nature" ..her way of saying it's in my head...I RAN. I never went back...I went back to my original neuro who gave Dystonia dx and sent me to the movement disorder specialist (who thought it was in my head) I'd known this original neurologist since I was child... She scolded me and sent me home with a list of drug names a mile long and told me to "Dr. Google myself" and tell her what exactly I'd like her to prescribe...when I said I didn't want meds I wanted answers she became more irate...I left, and when out of sight I cried all the way home. Never went back there. Found a doctor, through a friend with cervical Dystonia, and saw her. She seemed like the she had the answer...I carry an antibody that isn't normal for most of us...it's called the anti GAD antibody. Though the value of my elevated anti GAD is actually low it's still in existence(not normal)...up until this point people were clueless as to why. New neuro says this is Stiff Persons Syndrome. I was admitted to the hospital right away and started on IVIG therapy...I was very intolerant to it...I became extremely ill... The headaches the infusions caused, the nausea, muscle spasms, dystonic storms... All of it felt like I'd imagine chemo feels, but no relief for my symptoms. They were actually worse... So I ordered them to stop the treatments... My amazing miracle of a doctor ? decided she didn't know what was up so she threw her hands up, sent an email and admitted she didn't know the answers (Honorable actually) and said "I can no longer help you". I lost it...I went to hysterics and frantically emailed back insisting she refer me to someone who DOES know the answers and telling her she wasn't allowed to give up on me... no one was...not anymore!! I was referred to her colleague who is my current doctor.. she took one look at me, listened to me and said, "you have Dysautonomia and likely EDS. Let's start with a Tilt Table Test for Dysautonomia." I blankly stared in disbelief. I was stunned...I figured...ok, here we go again...chasing this rabbit...Tilt Table Test was miserable fail and I was diagnosed with Dysautonomia (moderate to severe autonomic nervous system dysfunction) and specifically Neurocardiogenic Syncope & Hyperadrenic POTS. Oh, you mean everyone doesn't almost black out when they stand or stand too long??? Oh, that's why I break out in huge Red splotches... My body dumps adrenaline at 3 times the rate of a normal human... All at once, right at the conclusion of the 45 min test, the cardiologist who ran it (a new doc on my team who has served as an integral piece of the puzzle) diagnosed and explained what was happening to my body everyday... Things I thought everyone deals with I realized were abnormal... How could I be so disillusioned??? It was the strangest rush of emotions of varying degrees that I can even think of... Ever since discovering Dysautonomia we are addressing the things we can and some days are days of remission. Did I mention low levels of anti-GAD antibodies exist in many with Dysautonomia??? Found this in my research but have never had a doctor mention it as a correlation. Hmmm....
I'm awaiting my appt with geneticist to confirm EDS (it's a CO morbid condition with Dysautonomia and Mast Cell Activation Syndrome... I'll get to that in a minute). My first cousin was confirmed with EDS, now it's just a matter of confirmation. Ehlers Danlos may be the ringer leader. Another first cousin from the same side of the family has been diagnosed with dystonia.
So, Mast Cell Activation Syndrome...I started seeing a dietician after my father in law (a leading ENT whose also an allergist) ran an immunocalm food and food additive sensitivities test on me called MRT (mediator release test) and we found some interesting results. The dietician ran some additional genetic testing and we found more interesting things...I carry a gene mutation called MTHFR... Basically means I can't absorb nutrition. My metabolism is so incredibly fast that most everything goes straight through me. When I first started seeing her I was slightly overweight and malnourished. About a year ago I rapidly began losing weight.... No matter what I did, I lost weight. It fell off to the tune of around 45lbs in 3 months. Now I am within my BMI (every doc likes to remind me of this ?) but still malnourished. I eat well, my appetite sucks but I try to eat good food...I love veggies. Fresh from the garden is best. Anyway, my father in law takes a chance and becomes the newest - now actual - member of my doctor team. He's always been pulling for me, now I'm his patient forevermore! ? He took a chance and tried me on Gastrocrom, a medication that works on people with usually one of two dieases... mastocytosis (too many mast cells) or Mast Cell Activation Syndrome (overactive mast cells). All of us have mast cells in every part of our body. They release histamines, cytokines and other nastiness...my body can perceive anything at anytime as a threat and allergic reactions occur that are hard to make sense of. anyway, the Gastrocrom worked amazingly. I saw immediate results. My FIL is not yet an expert on mast cell issues but through me he's delving in which is good for Masto patients everywhere. Getting this under control at times (it's like a balancing act) has given me days of remission.
I have recently had testing for Myasthenia Gravis because many of my symptoms are consistent with MG. Turns out of don't have MG, but I was confirmed as having ME/CSF (myalgic Encephalomyelitis/ Chronic fatigue syndrome) and my cardiologist tried Mestinon to see if it helps...it helps some... Otherwise the extreme fatigue makes it so hard to live life anywhere near normal.
I've had recent blood work that came back negative for Lupus, Lyme, RA and a handful of other more common conditions.
For the last several years I've had strange hormonal issues and I saw an endocrinologist with no real answers there. Ended up having a hysterectomy in February and has adenomyosis confirmed via pathology after surgery. I still have one ovary but my hormonal issues have improved some.
Enter my next doctor because my current Neurologist has hit a brick wall and doesn't know how to further help me...new Neurologist does and MRI and tells me she's never seen some one my age (I'm 36) whose neck was as bad as mine. Ive now been diagnosed with dengenerative disc disease, Severe Cervical Stenosis. She urged me to have surgery ASAP because my spine is compressing my spinal column. This causes so many of my symptoms and I'm hoping the right surgeon can help the progression of symptoms.
Feels like I should not have this long list... Like it's something bigger and all these other things are part of that big picture so I'm always researching. If I'm aware of the beast I'm fighting then I can better arm myself against it.
Everyday is a day worth fighting for. Just some days the fight will be harder. ???
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