[Mz]

I have a rare disease. One of the drugs developed in recent years to treat it costs about $300k/year and only works for about 5 percent of patients with the condition. I have made dietary and lifestyle changes to get better for a pittance compared to what conventional treatment costs. I get called a loon.

But here is what I think about these high priced drugs:

Joe was a successful lawyer, but as he got older he was increasingly hampered by incredible headaches. When his career and love life started to suffer, he sought medical help. After being referred from one specialist to another, he finally came across an old country doctor who solved the problem.

"The good news is I can cure your headaches... the bad news is that it will require castration." You have a very rare condition which causes your testicles to press up against the base of your spine and the pressure creates one hell of a headache. The only way to relieve the pressure is to remove the testicles."

Joe was shocked and depressed. He woundered if he had anything to live for. He couldn't concentrate long enough to answer, but decided he had no choice but to go under the knife. When he left the hospital he was without a headache for the first time in 20 years, but he felt like he was missing an important part of himself.

As he walked down the street, he realized that he felt like a different person. He could make a new beginning and live a new life. He saw a men's clothing store and thought, "that's what I need .. a new suit."

He entered the shop and told the salesman, "I'd like a new suit." The elderly tailor eyed him briefly and said, "Let's see... size 42 long." Joe laughed, "That's right, how did you know?" "Been in business 60 years!" Joe tried on the suit. It fit perfectly. As Joe admired himself in the mirror, the salesman asked, "how about a new shirt?" Joe thought for a moment and then said "sure..." The salesman eyed Joe and said "let's see...34 sleeves and...16 and a half neck." Joe was suprised, "that's right, how did you know?" "Been in the business 60 years" Joe tried one the shirt, and it fit perfectly. As Joe adjusted the collar in the mirror, the salesman asked "how about some new shoes?" Joe was on a roll and said "sure!"

The salesman eyed Joe's feet and said "Let's see... 10-1/2...E." Joe said astonished, "that's right, how did you know?" "Been in business 60 years!" Joe tried on the shoes and they fit perfectly. Joe walked comfortably around the shop and the salesman asked "how about some new underwear?" Joe thought for a second and said, "sure!" The salesman stepped back, eyed Joe's waist and said "Let's see... size 36."

Joe laughed, "Ah ha! I got you I've worn a size 34 since I was 18 years old." "The salesman shook his head, "you can't wear a size 34, it will press your testicles up against the base of your spine and give you one hell of a headache."

http://jokes4us.com/dirtyjokes/castrationjoke.html

[TrueGeek]

Can I ask what disease you have and what lifestyle changes you made? I understand if you don't want to share, I'm just curious.

[Mz]

I have a form of cystic fibrosis. I have made a long list of dietary and lifestyle changes. The current best source of information about that is a blog called Mic Eats.

In a nutshell, people with CF misprocess fats, wind up excessively acid and wind up with serious malnutrition. I got very picky about the fats I consume, aggressively addressed the nutrient deficiencies until my body worked more normally, and I eat a diet that compensates for my body's tendency to become way too acid.

I also avoid chemicals that bother me, avoid exposure to germs, etc.

I look fairly ordinary these days. It isn't obvious to other people that my entire life revolves around this. It is sort of like being a kosher Jew who eats only approved foods and so forth.

[ShannonAlther]

Since you actually have CF, it would be trite to point out (but I will anyways for the peanut gallery) that the mutation in the CFTR gene causes secreted mucous to be much thicker than necessary. In the lungs, this causes difficulty breathing, rampant infections, and death by the age of 50 at the optimistic. Lifestyle interventions are not as helpful as you think in the general case, and the only reason you didn't die in your crib is because of aggressive antibiotics use.

[Mz]

Lifestyle interventions are not as helpful as you think in the general case

Because of people like you treating me like absolute shit on CF lists, I left all of them some years back. Then someone with classical CF in their 30s whose number was up tracked me down because they didn't want to die. They follow my blog and private message me occasionally and thank me profusely for helping them get healthier (instead of, you know, DYING).

So, like, that's just your opinion, man.

[ShannonAlther]

I don't believe I've accused you of anything except being wrong, Mz, and furthermore your blog notes that you have a rare CFTR mutation, a milder form of the disease (I only briefly scanned so I may be wrong). That's awesome! Your quality of life is probably really high compared to the average CF patient!

But the only intervention that's lifestyle-y that I know of is chest physiotherapy. I'm glad that the person you found now feels better, but the data does not support your claim.

[Mz]

I claim I am doing something groundbreaking. Your claim amounts to refuting the idea that anything new can be done, that the outcomes we currently have is as good as it gets.

Despite various publications of results where hand washing reduced mortality to below 1%, Semmelweis's observations conflicted with the established scientific and medical opinions of the time and his ideas were rejected by the medical community. Semmelweis could offer no acceptable scientific explanation for his findings, and some doctors were offended at the suggestion that they should wash their hands. Semmelweis's practice earned widespread acceptance only years after his death, when Louis Pasteur confirmed the germ theory and Joseph Lister, acting on the French microbiologist's research, practiced and operated, using hygienic methods, with great success. In 1865, Semmelweis was committed to an asylum, where he died at age 47 of pyaemia, after being beaten by the guards, only 14 days after he was committed.

https://en.wikipedia.org/wiki/Ignaz_Semmelweis

Hand washing. What a silly idea. Let's just put this guy in a loony bin for how completely insane he is.

Edit: Also, the person found me. I didn't find them.

[refurb]

I'm going to guess it's cystic fibrosis. Vertex sells Kalydeco for a specific CF mutation that only affects about 5% of patients.

[gg82]

Kalydeco is truely a miraculous drug. My niece takes it and it has changed her life. It changed her appetite and allowed her to put on weight, and now looks much healthier. I will admit I was hoping that it would make the effects of CF more hidden (she still has to take other drugs, do physio and watch out for chest infection risks), I am still thankful that the Australian government subsidizes it for her down to $6.40 per month instead of the cost of a family car per month (which is obviously unaffordable to her parents).