smoke on the water

No, really. In Chicago right now there is smoke on the water. I think the worst of the Polar Vortex is over, but it has been record setting cold here, and there was smoke on the water this morning when I arrived at Northwestern Hospital!

smoke on the water – deep purple
photo by Barry Butler

I went in today to see the two Doctors for results, and it went better than I expected. I usually go in expecting the worst, hoping for the best, and I came out with new information, and new diagnoses, but sometimes that is better than the docs saying ‘great news your tests are normal’ when my body is saying I’m anything BUT normal.

First was genetics. I had blood samples taken about 2 months ago to check if I have some kind of connective tissue disorder. They found a few mutations in my DNA, but still nothing to explain my dissected vertebral artery from last year. The mutations they did find are VERY rare, and not much is known about them, or what they mean, but I was told this might be the case by the genetic counselor before I had the tests done. My variants are in the CBS and COL12A1 genes. From my understanding this does mean there is something ‘not normal’ with my connective tissues, however not enough information is known to explain what this is…. so as far as genetics go, I left with no more answers then I had coming in, other then I am different and rare (which I have known for quite some time!)

Next up was Gastroenterology, to follow-up on the tests I had done last week. I had an EGD, with manometry placement, endoflip, and had 3 biopsies taken. I have had trouble swallowing solids for months (getting close to a year), and I think the Doctors finally figured out what it is! It is an EGJ outflow obstruction, which means food is not passing how it should, they saw spasms, and a very narrow passage (another very rare condition). It’ll mean having another procedure done, but they think they can give me some relief from my symptoms. It will be an endoscopic ultrasound with dilation and botox. Hopefully this will stop the spasms, and make the passage larger for food to pass. This procedure should be scheduled in the next few weeks, so please keep the good vibes coming this way! While it’s pretty fun to have my high school skinny body back, I really enjoy food and would like to eat it without issues again someday!

I am still not sure if this is all good news, or bad news, but I expected much worse news today, so I will take it and keep moving



One thought on “smoke on the water

  1. Probably not what you wanted to hear; but, it does sound like progress!
    Here’s to a successful procedure with a good income for a little weight gain with great food.. 🙂

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