Rare + Rare = Still Rare

Yesterday was generally a non-productive doctoring day for me. I went to see a neurologist in a different medical system outside of the ones that I have tried just to see if I could at least get an acknowledgment that what I’m dealing with is not that idiotic label “facial weakness” that the U of MN doctor put in my file. Besides trying to work towards a diagnosis, I’m also trying to build my case for disability, and I keep hearing my attorney’s voice in the back of my head saying, “If you don’t get a diagnosis by the time you are sitting in front of the judge, you’re screwed.”

The neurologist was very friendly and open, and definitely had the approach of working with me as part of a collaboration rather than dictating to me. However, we still had a breakdown in communication. She could not wrap her brain around the concept about why I have a shunt in the first place (and indeed is the same barrier for 99% of the doctors I talk to even though I explain to them that the shunts were placed because my symptoms improved temporarily after receiving lumbar punctures 12 hours apart). Almost all doctors incorrectly jump to the conclusion that my face is drooping because I’m overdraining – as if the fluid is pulling my face down with it, like I am living out a Salvador Dali painting. It’s easier for me to explain the shunts and the failures and the symptoms to people who have absolutely no experience with this world because they have no expectations and no preconceived notions (except for the asshole armchair “experts” who don’t know shit but think that watching a few episodes of “House” have made them suddenly intellectually superior).

Because this doctor had wonderful bedside manner, I made sure I took the time to assure her that her inability to give me a diagnosis or a direction was not her fault or a failure on her part as a physician. As a matter of fact, she was doctor #50 in six years, and I told her that too. The combined look of horror and chagrin was a bit comical. I gladly accepted her recommendations for a pediatric neurosurgeon (because sometimes they take the most complicated adults) as well as a rheumatologist she thought would have the best bedside manner, so all was not wasted on that visit. I also explained to her that I would be attending the national hydrocephalus conference June 16-19 being held here in Minneapolis and that I had t-shirts printed:

This week another one of our relatives passed away. His niece happened to contact me through 23 & Me, where I have an account set up after getting my genes tested last July; I wanted the cheapest way possible to get them set up in a database while I tried to figure out what is going on with my body and just how rare it really is. It turns out that this relative of mine has a daughter who is also super rare, truly one in seven billion! It’s so rare that they actually had to formally name it: Hemolytic Anemia Medicine Lake. The “Medicine Lake” portion of the name refers to the area that I and a large portion of my extended family grew up and lived in in the western Minneapolis area. Unfortunately it’s not in any way similar to what my problem is so I can’t go to the NIH and tell them to link our cases, but we definitely hit the rare disease lottery in this family.

By the way, universe, I’d like to win the LOTTERY lottery.

And I won’t be going back to this neurologist, as nice as she was, because she described herself as a “neighborhood neurologist.” She said that she was a step or two down from the facilities where I had been trying my luck, and this was way over her head.

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