How interesting are our bodies? I mean, seriously… all these organs and systems performing bodily functions without us ever having to put much thought into it at all. Other than knowing we need to  eat, drink, use the bathroom, exercise, brush our teeth and such, we can pretty much live our day-to-day lives without worrying about our body parts functioning they way they are supposed to. Pretty easy to take this sort of thing for granted. That is, until you realize your body isn’t functioning correctly anymore.

I have two rare disorders. Well, I don’t think they are so much “rare”  as “rarely diagnosed”. I spent my entire life with symptoms no specialist could explain. After having a rheumatologist coldly ask me, “why are you here?” and telling me, “You’re looking for a unifying diagnosis for all of your symptoms and you aren’t going to find one”…and having another doctor tell me that I should consider going on an antidepressant, I just stopped complaining. I knew whatever I had wouldn’t kill me, as I’ve made it this far. So, I stopped reporting any symptoms at my visits and resigned myself to a life of chronic pain, allergic reactions, worsening eyesight, severe digestive issues, pre-glaucoma, two heart arrhythmias, insomnia, frequent joint dislocations, chemical sensitivities, dizziness, shortness of breath, light-headedness, weakness, fatigue, dental problems, metabolic syndrome…I’m sure I could elaborate more, but I’m sure you get the picture. The thing is, even though I resigned myself, in my early 40’s,  to living this life, I just KNEW there was a diagnosis somewhere. It’s just not normal for someone that young to have so many medical problems that are not explained.

So, I researched. And I researched. And I researched. It seemed hopeless, but there was nothing else to do, so I kept plugging away, losing hope day by day. Until one day…

I came across an article written by a doctor describing my EXACT journey! I cried reading it. He was describing me. I wrote to him, telling him just that, along with describing my symptoms and years of being told there was nothing wrong with me. This amazing man actually wrote back to me, stating it did indeed sound like I had Mast Cell Activation Syndrome. I took his letter, along with some other research I’d found and brought it as a presentation to my allergist, who then referred me to the Mast Cell Clinic at Brigham and Women’s hospital in Boston, where I finally received the diagnosis and am on a medication regime which has greatly improved my quality of life.

However, not all my symptoms were due to this new diagnosis. Mast Cells have nothing to do with dislocated joints, severe pain and a few other weird things about me.. So, I did a little more research. OK…I did a LOT more research.  I kept going until I found another article, describing a disorder that is commonly diagnosed with Mast Cell Activation Syndrome…Ehler’s-Danlos Syndrome. It’s a connective tissue disorder which results in faulty collagen. I took myself to a geneticist in Boston who upon meeting me stated, “You obviously have some type of connective tissue disorder”. I laughed. “Obviously! Let’s tell that to the 25 doctors I’ve seen before you who told me I was crazy!” I tell ya, even though there is no cure for these two disorders, the validation of a diagnosis is kind of healing in itself.

Unfortunately, my two sons were just diagnosed with connective tissue disorders a few weeks ago. And even more unfortunately, theirs looks to be affecting their vascular system, putting them at risk for ruptured aneurysms. We are still in the diagnosing stage, in regards to determining which type they have. It’s one thing for me to have this crap, but for my boys…that’s a whole other story. It’s not fair. I’m scared. I hate that I gave this to them. I hate that they had to have echo cardiograms last week and will have to have them frequently for the rest of their lives. I hated watching my oldest son’s face as the cardiologist described his enlarged aortic root. I hated watching my youngest son’s face as the geneticist pointed out the physical characteristics of Marfans’s Syndrome…of which he has many. I hated listening to my son nervously whispering, “I hope I don’t have to have surgery on my heart”.  I hate taking my kids to the chiropractor every few weeks to push in a dislocated joint.  I hate that my son had to quit playing high school basketball because his shoulder won’t stay in place and his body won’t function the way he wants it to. I hate him being in pain…much more than I hate myself being in pain.  I’d take all of his pain and add it to mine in  a heartbeat to keep him safe. That’s how moms roll…

Wow, that was sort of a venting session there. Sorry. I don’t hate much in this world, but watching my children suffer…yeah, I do hate that. However…

…life goes on….

The Friday Reminder and Prompt for #SoCS August 11/18