Diagnoses awaiting Genetic Testing suspected:
Hypokelemic periodic paralysis
Ehlers-Danlos (Or other heritable connective tissue disease)
Episodic ataxia (type 2(?))
I am a Zebra. Even when having a full on flare up of Ulcerative Colitis before I was diagnosed, my blood was normal. Full inflammation throughout my body and not one sign of it in my blood. Even my CT scan was completely normal when it shouldn’t have been. I am a Zebra. Inflammation does not show up in my blood. My Rheumatoid factors are completely normal other than a high IgA which I was told, meant nothing.
How does one prove they are ill when their blood is completely normal? So many times I’ve been completely dismissed because of this. Even after explaining that I am a Zebra.
Another very odd quirk is that I have bone inflammation on both femur necks along with bilateral labral tears. Typically, when one has arthritis, the cartilage is damaged. This is seen on xray and arthritis is diagnosed. My cartilage is completely normal. Excellent spacing. And yet my bones are inflamed. I have not one doctor explaining why and what this means. I only know the pain is simply excruciating. My SI joints show degeneration so arthritis is there. Does that explain the bone marrow inflammation in my hips? My hips, often, feel shattered. Completely and utterly shattered, the pain is so intense. And yet, my blood is completely normal. Having Ulcerative colitis, a theory could be seronegative inflammatory arthritis, but only my neck and SI joints are arthritic. No doctor has xrayed my knees in years. They feel like bone on bone in addition to the instability my braces are for.
So I have spent the last several years in so much pain, I’m no longer living but simply existing as my life has been taken from me. My ability to function is gone, except the odd good day that pops up and reminds me of what I’m missing out on. I long for the years I simply battled flare ups and migraines that took chunks of my life each month rather than the day in and day out suffering I deal with now. Though in 2006 and 2007, I spent those two years in a severe POTS flare up with fibro and ME/CFS but not the severe chronic pain like it is now as it was episodic in nature back then.
Waiting on genetic testing is frustrating and time consuming. Even though I’ve waiting 19 plus years wondering what all is going on with me and waiting a few more weeks is really nothing, considering, I just want to know. I just PRAY it’s in my genes so I have confirmation once and for all. I’m 100% that a connective tissue disease is at the root of a lot of my suffering, but not all of them will show up in the genes yet. It’s not heavily researched like other conditions. They’re working on it though.
Dealing with so many systemic illnesses without a definitive diagnosis beyond what I’m diagnosed with make medical care extremely difficult as those conditions are misunderstood and not well taught in medical school. A lot of doctors roll their eyes at the conditions and still think, “It’s all in their heads!” Even though science is showing, it’s physiological.
I’m the Pans positive patient. I never wanted that. The bias in the medical community is mind boggling, even though they are suppose to be taught to squash that bias and do no harm. They are, after all, still ‘practicing’.
Diagnosed Conditions not Visible:
Chronic daily headaches
Diagnosed Conditions that are visibly diagnosed:
Interstitial Cystitis with petechia
GERD with reflux and episodic blood in the stomach
Stricture in esophagus
Bone inflammation in femoral necks bilateral
Bone Marrow inflammation in hip bones
Swollen lymph nodes in groin, upper leg, behind neck (Over one year now)
Enlarged prolapsed uterus
Hiatal hernia- repaired- now sliding
Gall bladder removed
Aorta at upper limits of normal
Strabismus with excessive floaters and astigmatisms
Tendinitis multiple sites
Kephosis and loradosis “Flat back”
Variable blood pressure with spikes and drops
Tachycardia (POTS) with skipped beats, PVC’s and others
Mitral Valve Prolapse with regurgitation that is progressed
Prior prolapse of other valves with regurgitation self corrected
SI joint that was out of place and pushed back by Physical therapist
Glut muscles that have difficulty activating along with a leg muscle
Repetition fatigue in limbs that is measurable (little exertion)
Joints that are loose
Receding gums with multiple skin grafts that mostly failed
Bicornate uterus and tipped bladder
Short pinky toe
Very narrow wrists can wrap fingers around
Extremely narrow rib cage
Forward tilted hip with one side dropped
Often low potassium, sodium, Vit D, Calcium (once), ferritin
petechia spots on skin
Episodes of bleeding- IV sites, giving birth, spitting blood
Blood clot in umbilical cord (we got lucky)
Both children had very short cords, small placenta and wrapped around neck
Low side of normal bone density in hips
Stretch marks that are excessive for weight and atrophic
Bartholin gland issues- multiple surgeries