The story of Carol
Was always getting ‘sick’ as a child. Nothing major, just a bunch of little unrelated stuff.Allergies galore! Stomach issues, GERD, inability to gain proper weight, slow motility hiatal hernias , then earaches, colds, sinus problems, then joint pain, subluxations. Later on became ‘allergic to having my monthly period. Seems like every system in my body hated me. Then the brain fog started- things I could normally due without thinking about it became difficult or impossible (i.e. adding two simple numbers together). Something with definitely wrong somewhere. Going from doctor to doctor without answers was horrible. First was diagnosed with Multiple Sclerosis confirmed with an MRI and exam. Okay, we have an answer. But no. More things happened that couldn’t be explained by MS. Developed early osteoporosis, more joint problems, high inflammation rates and more issues. Rheumatology tested for what they though was Lupus because all the symptoms fit except the one test (ANA) was negative. So they just diagnosed it as UCTD (undifferentiated connective tissue disorder). It didn’t end there either. Stomach issues had been a problem since about eleven years old. Some thought I was anorexic and/or depressed or going through a phase. They put me on a ton of anti-depressants (I think everyone of them known to man) and I reacted badly to them and ended up in the hospital trying to kill myself. It turned out it was reactions from the antidepressants. After the meds were fully cleared from my systems, I became somewhat normal again (whatever normal is). After many tests they just said I was a pain-in-the-neck patient and said it was irritable bowel. Then during one particularly bad ‘flare’ they did a small bowel series and found the beginnings of a fistula. Mild crohn’s, colitis, and hiatal hernia was added to my list. Lateron I developed more and more unexplained bruises and more subluxations. I was a tomboy growing up so I was used to bruising. Found out I was anemic but the anemia didn’t explain the subluxations. More doctors. Primary care sent me to hematology whom sent me to another hematologist at a teaching hospital. They thought it might be from Von Wilebraunts but weren’t quite sure because of some of the meds i was taking for the stomach. She suspected a connective tissue disease and sent me to a geneticist. There they discovered I had Ehlers-Danlos Syndrome. I was an official Zebra. But it didn’t end there. Began with irregular heart beats and tachycardia. Off to cardiology and more testing. After stress test and a tilt table test the diagnosis was POTS (Postural Orthostatic Tachycardia) which is on form of Dysautonomia. I have other autonomic dysfunctions as well such as temperature and respiratory deregulation (basically anything that is supposed to be regulated by body automatically). After that the high blood pressure set in yet adding more meds and doctors to my list.Meanwhile, my list of allergies was growing (now a page and half that we know of) and not just to meds and foods but I even react to certain smells and odors. You learn to keep things simple and stay away from the fragrances and exotic things. Then was asked if I had MCAS(Mast Cell Activation Syndrome) too. Really!!! I don’t, want yet another diagnosis. Sure enough, during a colonoscopy I asked the doctor to do a special biopsy to look for MCAS.. It’s called a CD117 stain. There are a couple more but don’t remember them at this moment. Sure enough 3-4 weeks later I get a call saying the biopsy came back positive for excessive mast cells. So now I have what is referred to as the trifecta (EDS/POTS/MCAS). Oh yeah, I forgot to mention the bone infarcts in the leg, and then there was the aneurysm scare in the brain. Now there talking about NETS (neuroendocrine tumors). I don’t even want to know. My lymphatic system is acting up too. I had 20 or so surgeries, doctors that don’t like to see my name on their schedules because they don’t know how to help. Most thought I was nuts or a hypochondriac and some barred me from their offices. I always new something was wrong, I asked a lot of questions, was persistent (sometimes way too persistent), did my research on reliable sources (not like wiki or web md), asked knowledgeable pharmacists and doctors and unfortunately or fortunately found some of my answers.. Still a lot more work to be done but I’m still here. Not looking forward to more tests and diagnosis but it will get done. I hope this helps some people to tell there stories and DO NOT GIVE UP looking for your answers.. You know your body best. Keep the faith. To all you Zebra’s and Spoonies (look up “Spoon Theory), keep going. Help us spread the news about “rare” diseases. EDS, POTS and MCAS aren’t really so rare. It’s rare because doctor’s are knowledgeable in these subjects yet. And because there is no cure (and they know that) they don’t want to deal with us. Teach them! Spread the word where ever you get a chance (It’s usually in the Emergency Room (humor)) to an ER doc. Hope you have a good day! You can find info on EDS at www.ehlers-danlos.com, on dysautonommia at dinet.org. for those of you who use facebook go to inspire.com and search for the Ehlers-Danlos Page. Another good site for rare diseases is NORD (national organizations for rare disorders (rarediseases.org) Thanks for listening. There is a reason EDS patients are called Zebras – look it up! There is so much more to my story becasue it gets to emotional at times and somethings I’d rather not remember. Peace to all and thank you for listening to part of my story. 🙂 (Smile)