Rare Disease Day

Tomorrow (February 29th) is Rare Disease Day. As someone who lives with multiple rare diseases, this day has a lot of importance to me. Not only do we need more awareness, we need more research, more studies, and ultimately more treatments (or ideally cures). In the US, drugs to treat a lot of these conditions are classified as “orphan drugs” (a designation that benefits pharmaceutical companies, not patients) and they often come with astronomical prices that are unaffordable to most patients who really need them. If you’re lucky, your insurance company will pay for it and the manufacturer will offer a “coupon” and you can afford whatever your insurance wants you to pay. Welcome to American healthcare, where having a serious and/or rare disease can bankrupt you. This is insane (but that’s a topic for another post).

The conditions I have that are considered rare are Trigeminal Neuralgia and Acute Intermittent Porphyria.

Trigeminal Neuralgia is a nerve disorder affecting the fifth cranial nerve and causes severe facial pain. I have it in the lower 2/3 of both sides of my face and also the upper 1/3 on the right side. The pain I have a dull, crushing, stabbing , achy pain. That’s in addition to the electrical shocking pain the disorder is better known for. TN is treated primarily with antiseizure medications and surgery. I’ve had five brain surgeries so far and still take medications to try and control the pain. I also get medications as intravenous infusions for the same purpose.

Acute Intermittent Porphyria is a disorder that involves how the body responds to and processes heme. It causes attacks of severe abdominal pain, tachycardia, anxiety, organ system failure, seizures, and other symptoms. It’s treated with intravenous administration of glucose and a medication called panhematin. Attacks usually require hospitalization. They’re usually brought on by getting unsafe medications or other substances or a low carb diet. Some people have more attacks than others. Personally, I’ve had one attack that required hospitalization.

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