Rare Disease Day

Today is Rare Disease Day so I was to talk about the disease/condition that affects my life the most: Trigeminal Neuralgia. The first picture pretty much sums up what I feel with it. I have both types of Trigeminal Neuralgia pain. The Type 1 (shocking) pain) luckily isn’t as frequent as it used to be thanks to the Partial Sensory Rhizotomy I had on each side. The Type 2 pain (crushing dull aching pain) is there constantly. It feels like somebody breaking my facial bikes from the inside out. An ice pick to the jaws, and a vice crushing my face. The only thing that changes is the level of the pain. It’s always there. Medicine only takes the edge off and lowers the pain levels. I also do infusions and nerve blocks to lower the pain levels too.

Trigeminal Neuralgia is very misunderstood. It’s not a “headache”, “tooth ache”, or “TMJD”….. it’s nerve pain and it can be very hard to treat. Patients need to see a neurologist/neurosurgeon for a full workup (exam, MRI, etc).

The best way to help someone like me, with Trigeminal Neuralgia, is understand the pain is severe and unpredictable. I’m always in some degree of pain, and hide it well. But when it spikes past the “tolerable” level, I have to do something. One minute I can be fine, and the next I’m debilitated. Often without warning. When I say I’m in pain, don’t try to argue with me…. I know what I’m feeling and can function in a level of pain that would put most people in bed. When I’m past my “tolerable” threshold I need my meds, heating pad, and rest.

Currently my treatment plan consists of medications (antiseizure meds and pain meds), infusions (magnesium, an IV antiseizure med, and a steroid), and nerve blocks. I’ve so far had five operations to try and control the pain and luckily they’ve helped the electric shocking pain. I will be looking into more surgery to try and control the Type 2 pain, as I’m running out of treatment options and am maxed out on medications.

There are many things that can cause Trigeminal Neuralgia ; a blood vessel pressing on a nerve, a tumor, MS, or a host of other things. Mine is thought to be caused by a genetic disorder I have called Acute Intermittent Porphyria (another Rare Disease) that’s known to attack the nervous system. There is no way to reverse it, we can just treat the symptoms.

A little information on Acute Intermittent Porphyria:

“Acute Intermittent Porphyria (AIP) is a rare metabolic disorder that is characterized by deficiency of the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD). This enzyme deficiency can result in the accumulation of toxic porphyrin precursors in the body. However, the deficiency by itself is not sufficient to produce symptoms of the disease and most individuals with a HMBS gene mutation do not develop symptoms of AIP. Additional factors such as endocrine influences (e.g. hormonal changes), the use of certain drugs, excess alcohol consumption, infections, and fasting or dietary changes are required to trigger the appearance of symptoms.” (This is taken from the American Porphyria Foundation)

Acute Intermittent Porphyria can be very difficult to diagnose and it took years for me to get officially diagnosed. I had one very severe attack that put me in the hospital for several days with severe severe abdominal pain, tachycardia, nausea, and I went into acute renal failure, and my liver was beginning to fail. With my family history of porphyria, a hematologist was called and started pumping me full of IV glucose around the clock, as well as medication for pain and nausea. It began working after a couple days. The first day and a halfish, I was in the fetal position crying in pain (even with strong around the clock pain meds). The IV glucose slowly started easing the pain. I was hours away from having to start dialysis when my kidney function began rising, as did my liver function. Between the tests I’d had and this attack, I was diagnosed with Acute Intermittent Porphyria.

This was one of the scariest things I’ve been through in my life and I hope I never have another attack like it!!

This is what Trigeminal Neuralgia feels like for me

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