6 diseases I would hate to have.

Recently I’ve been spending a lot of time studying different diseases, in particular genetic ones, and I am having this growing sense of fortuity and gratefulness that I was born without a genetic disease. In fact, given the high probability of some of them occurring, I find it amazing that I don’t have one. Some of them are not too bad, you know, treatable and all that, but some of them are pretty awful. The long and short of it is, if I had to choose a disease to be born with, the following are ones I would definitely not choose.

1. Being male. You might not think this is a genetic disease, but if you are unlucky enough to be born with 5-alpha-reductase deficiency, you might look like a normal female but then discover when you hit puberty that you start to grow facial hair, big muscles and little genitals that seem to come out of nowhere. Yes, it’s true: you are genetically male (46,XY chromosome) but phenotypically (how you look on the outside) female, at least until those hidden testicles start producing testosterone and turn you into a he-she. Gender reassignment is an option, but apparently this disease has a high rate of psychiatric suicide.

2. Werewolf syndrome (hypertrichosis). Yes, it’s just how it sounds: due to a genetic defect, thick dark hair starts to grow all over the body (except hands and feet), including all over the face, transforming the unfortunate sufferer into a real-life vision of the mythical creature. Sure you can get the hair removed, but waxing your whole body has got to be a bit of a pain.

3. Elephantitis. Not a genetic condition; it is caused by infection from a parasitic worm transmitted by mosquitos. It causes extreme edema (buildup of fluid in tissues) and most commonly causes extremely swollen arms, legs, breasts and genitalia. And believe me, guys, a 2-foot long penis is not cool.

4. Jumping Frenchman disorder. Originating in French-Canadian lumberjacks, this disorder involves hypersensitivity to being startled by unexpected noises or sights. We’re talking REALLY startled: they flail their arms, cry out and repeat words. Sometimes I think I have a mild form of this disorder as I have a very well-developed startle reflex, but apparently this is a hundred times worse.

5. Maple syrup urine disease. Not as sweet as it sounds, this genetic disease was named due to the maple syrup like odor of urine, due to an increase of certain amino acids being excreted in the urine. Because of a genetic deficiency of alpha-ketohydrogenase enzymes, the buildup of these amino acids causes toxicity to the brain and extreme mental and physical degeneration (seizures, etc.) leading eventually to death within a few years of birth. This disease is only common in people of Mennonite or Pennsylvania Amish descent though, which pretty much rules my family out.

6. Hirschsprung disease. It’s really not as difficult to pronounce as it looks, and if you don’t mind the treatment, I guess it’s not too crappy of a disease to have. Basically it results from a lack of nerve supply to the lower bowels, which causes a lack of the defecation reflex- even though the bowels are full there is no signal to go, so feces builds up and causes bowel obstructions. Treatment is either removing the part of the colon that is ‘aganglionic’, or more commonly, inserting a finger into the anal canal each day to stimulate the bowel to empty. Again, if you're good at putting up with crap, it's not too bad.

I could go on….there are thousands of these disease. The scary thing is that just like jumping Frenchman disease, many of us have mild forms of all sorts of things wrong with us- yet we live with them everyday and get on with our lives. We’re not perfect, none of us. This world isn’t perfect. We’re blessed to have the things we do have, especially our health, and remembering that should help us to be more compassionate to the people we encounter who do have some of these diseases.