It’s coming up on a year since the first hospital visit that was the precursor to all …this… and I am having A Time. Wrestling with paperwork for the NDIS, for getting a stair lift installed in the building, arranging home pathology visits and telehealth appointments. It’s a lot. And there’s still no answer as to what’s actually wrong with me. We know what the symptoms are; figuring out the cause is another matter.
It’s something I’m going to have to have a serious conversation with my doctors about, because we all need to be on the same page with regards to how you can’t expect the usual suspects with me. In most cases, yes, when you hear hoofbeats, you look for horses. I’m not most cases. I’m the one in thousand case where hoofbeats means zebras.
It’s in the title of the blog. Medical snowflake. Snowflakes are famously unique. And in my case, that’s not a good thing.
See, my father was exposed to Agent Orange. Dioxin, the big bad in Agent Orange, is now known to have serious DNA-altering effects on the children of people who were exposed. A lot of the conditions that are cropping up in the children and grandchildren of vets are endocrine and previously not in the family.
As for me? I have at least two conditions that are usually genetic but aren’t anywhere else in the family. Factor V Leiden, the clotting disorder that has me on blood thinners, is genetic, and I’m heterozygous for it; considering Dad’s history of DVTs, I assumed so was he, but if it’s in the paternal line, it really should have shown up in someone else too. And then there’s the diabetes. Type 1, cropping up in siblings when it had never been in the family before? My doctors have been baffled by that for a long time.
So there’s that. There’s the hypophysitis, which is another rare autoimmune condition. There’s the fact that whatever is going on with my heart rate and blood pressure, it isn’t being caused by a cardiac fault, which makes it more likely that something in my autonomic function is way off. There’s the fact that almost all of my doctors agree that going by what I eat, I should not be the weight that I am. I try to be a “good fat person” sometimes and go “oh, yes, I just need to eat better and exercise more” but it’s not that simple. I’d love for it to be that simple.
We can’t expect the usual answers with me, not with dioxin involvement and not with my already frankly unrealistic medical history. I need to make sure all my doctors are on board with that. It’s possible we’re going to need to do some genetic tests to figure out what’s going on, because I’m already so unpredictable and my symptoms could be so many things that diagnosis is extremely difficult. I see my endocrinologist at the end of the month; hopefully we can take some steps then.
Until then, I am very tired, often frustrated, very headachey, and a zebra.
The Medical Snowflake Diaries 