Yesterday was the appointment with the connective tissue specialist that i’d been on the waiting list for 6 months for. We were going to talk about my worsening symptoms (joints going out, increased pain etc.) and get a new perspective because as we were told; he specializes in connective tissue.
After the hour and a half long drive to get there we were told they were running about 20 minutes behind (slight under-exaggeration). Another hour and some later we were finally called in. The waiting isn’t so bad, I had figured any help from this doc would be worth waiting for.
Once he walked in the room I kid you not he spent the first 10 minutes of the appointment looking up Marfan Syndrome on the internet -he didn’t know what it was! The next 10 minutes he spent explaining to me what it was! Telling me about how it can involve the heart yes, I know and the lungs yes, I know and the skin yes, I know. He then used the rest of his time looking over my features; the long fingers, the height, the works, while going through my tissue related symptoms and then trying to fit them specifically to one of the tissue disorders. “Well maybe you have Loeys-Dietz” No doctor, Loeys-Dietz doesn’t effect the eyes and like I said earlier; I’ve had 7 eye surgeries.
This is how the entire appointment went. He was trying to diagnose me with a tissue disorder -which we’ve already long established with the aid of doctors who’s jobs it actually is to diagnose them, not by those who don’t even know what they really are. He spent his time educating me on the basic and most simplest aspects of Marfan Syndrome -things I could recite in my sleep- even after we’d told him I’d been to the NMF conference and have always been educated about the disorders. Then when I asked for the MRI to check for dural ectasia (he didn’t know what DE was either) he began looking that up and telling me all about it too. He said MRI was the best means of diagnosing it, which got me thinking why else would I be asking you for an MRI referral for that very reason? I had to bite my tongue to keep from either laughing at him out loud or saying some of the not so nice things that were floating around in my head.
And while we were getting up to leave he added “you definitely have Marfan Syndrome”. Thank you doc for that unbelievable insight! I’ve finally been diagnosed! (Note the sarcasm).
One good thing did come of the appointment; he ordered the MRI of my spine. Then told us to make an appointment to see him again when the results came in, which if you haven’t already assumed; I won’t be doing. I think that maybe his area of expertise (if connective tissue specialist is even among them?) is more along the lines of lupus-like connective tissue problems.
Anyways, the highlights of my day trip to Prince George include finding the comfiest sweater I’ve ever worn and will now never take off from here on out and my grandma driving the wrong way up a one way street. Priceless.