- CASE FILE
I have a lot problems that need the dots connected--pain, bruising, random injuries, autoimmune disorder. reflux--does it tie together?
ABOUT THIS CASE FILE
I have numerous rare disorders. Ehlers Danlos Syndrome (hEDS), limited scleroderma, gastroparesis, Brown's Syndrome....and counting. I have also been diagnosed with Esophageal Motility disorder, Larynopharyngheal Reflux (LPR), Asthma, Lymph nodules, a vascular gluteal mass, vocal chord dysfunction, Positive ANA, , multiple joint instabilities, severe lumbar degenerative disc disease, scoliosis, cervical radiculopathy, and....antinuclear antibodies. That's just what has been diagnosed. I am very hypermobile (flexible)--fun at parties but bad for the bod.
I am trying to puzzle out how all of this might be related. On blood tests, I am doing good (riiiiiight)--cholesterol not bad, bp good, no diabetes, no apparent allergies, heart is good, liver/kidney functions good--so yay to that! Also on blood tests though--high Alkaline Phosphatate, eosinophils. very high antinuclear antibodies (to a high titre--every time.
I know I have EDS--a connective tissue (collagen) disorder--and scleroderma--also a collagen disorder--but one is too much collagen, the other too little--huh? I have had 18 surgeries most related to EDS to repair torn, ripped, or absent connective tissue. I get injured a LOT and I injure easily. (It doesn't help that I am chronically clumsy.) I am always covered in bruises, and I don't even notice they are there. My proprioception (sense of where things are) is off, so I do walk into a lot of doorways-for real, ha ha! And..I am lumpy. Like, seriously lumpy. Like bad mashed potatoes. I have nodules/cysts/lipomas everywhere!
But...surely I can't have so many random disorders? WHY do I forget to breathe sometimes--then get dizzy? WHY does the skin on my feet peel off in large pieces? WHY do my fingers randomly twitch or why does one eye water when I bend over? Is there an answer to all of this?
Numerous physicians have just told me they have no idea (appreciate the honesty!) But I do feel there is a pieces of the puzzle missing that could give me some answers. I can no longer work, have a cane, a brace for about every part of my body, and have 24/7 pain--so lack of sleep also factors in as well A lot of my treatments are "stab in the dark" measures, which makes me uncomfortable without anything definitive. I have a rheumatologist, neurosurgeon, gastroenterologist, several orthopedic surgeons, an ENT, pulmonologist, neuro opthamologist, and always adding more! I feel like if everybody's databases could be cross referenced there might be some commom threads.