Well, I have an appointment this morning with my new primary, an internal medicine doc, and I will be broaching the subject of HHT & possible brain AVM. For over 20 years, I have suffered with chronic headaches that are always in the same location - the base of my skull, eventually radiating to include the top of my head with pain behind at least one of my eyes, sometimes both. I have intermittently experienced issues with visual disturbances, balance problems, INCREDIBLE fatigue, "brown-out spells of unknown etiology", tinnitus (ringing/buzzing in the ears), sharp bursts of pain in the right ear canal, a strange sound in the back of my head that reminds me of uncooked rice being poured through a plastic tube, as well as cognitive impairments with short-term memory & forgetfulness, problems sustaining attention, a low frustration tolerance and my just generally being "scatterbrained" - these last several being the cause of MANY a job loss over the years.
I have been given various diagnoses over the years as well: depression, anxiety, possible narcolepsy, post-concussion syndrome, and previous mild traumatic brain injury. Twice I have brain MRIs done, with & without contrast, had an abnormal EEG (showed slowed brain activity in the left temporoparietal region - exactly where I struck my head in an auto accident in 1989, hence the MTBI diagnosis), and the cognitive impairment complaints were verified through cognitive function testing. In addition, I have also had the chronic nosebleeds (even now, my nose oozes small amounts of blood constantly, even though it's not an actual noseBLEED).
What precipitated the desire to discuss HHT & brain AVM with my new doctor today, though, was that my mother was recently diagnosed with HHT and an AVM of her colon. She also has had chronic nosebleeds all her life, as have I and my sister, and both of my sons. In fact, at one point, the family history of nosebleeds prompted an hematologist to explore the possibility of Von Willebrand's in my eldest son and me, and he placed us both on iron supplements for a time. With an actual diagnosis now of HHT in a 1st level relative, paired with all my odd neurologic symptoms over the years, I want someone to re-evaluate my MRI films to see if there might be a brain AVM there that was previously missed, since at the time no one was really looking for something like that, they were looking for MS lesions, tumors, active bleeds...but, even if it wasn't bleeding, someone would have caught an AVM if there was one there to find, wouldn't they? As it stands regarding HHT, the 4 diagnostic criteria the literature lists requires the presence of 2 for a presumptive diagnosis of HHT, and 3 for a positive diagnosis (before they will preform genetic testing). If I have telangiectiases, then I have 3 of the 4 criteria needed for a positive diagnosis.
I *think* I have some telangiectiases in my lower lip, on the inside, and some on the whites of each eye...however, I don't know really what the things look like so I'm not certain. These just look like tiny inflamed blood vessels, bright red and pretty noticeable.
At any rate, I'm both scared of talking to my new doctor about all of this (I don't want my concerns dismissed - AGAIN), but also excited for the conversation. It's not that I want to be diagnosed with a rare disorder and have something wrong with me...but really, something's been wrong with me for the last 20+ years of my life and as I've maintained all along - it ISN'T depression and anxiety! That came on later, after the real problem not being addressed and being allowed to tear down the stability of my life. A diagnosis would be great in that I would at least be then able to understand the 'why' of it all.
So, I'll keep you all posted as to what I discover....