Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a rare genetic condition. You can read about it here.

It is a serious condition that is expected to lead to complications in the patient by middle age. The only available *so-called treatment* cameĀ  in the late 90’s

Here is a quote from the above wikipedia article. Note the lack of long-term studies.”In the United States, Canada, and several European countries, lung-affected A1AD patients may receive intravenous infusions of alpha-1 antitrypsin, derived from donated human plasma.This augmentation therapy is thought to arrest the course of the disease and halt any further damage to the lungs. Long-term studies of the effectiveness of A1AT replacement therapy are not available.”
And of course, the treatment is expensive , about $8000 a month, and has been thought about as the only recourse to the sufferers.

Now here is the actual story of a guy whose Doctor decided to wait on the medication despite it being available.
The guy in question meanwhile started cycling regularly as part of an exercise regimen, and over time , became an avid cyclist. Needless to say, the condition will exist for the lifetime of the person. But his lung function actually became *above-average* without any medication after cycling regularly. In his own words. You read and decide what to make of it.

Read on ……

I had my annual pulmonary function test (PFT) yesterday, and I’ll spare the details for anyone who doesn’t want to take the time by saying, my lungs are healthy and I have no reason for concern.

But… it turns out that things could have been very different for us over the past 10 years. For years my pulmonologist, Dr. Harris, was requesting that I have PFTs twice a year, and only a few years ago reduced that to once a year. He’d say, “you’re a ticking time bomb. We’ve got to keep a careful watch on things so we can begin the alpha-1 antitrypsin replacement therapy before any significant damage occurs.” This treatment became available on the market in the late 90s and is prohibitively expensive, about $8000/month. The price hasn’t changed since then.

When I had my first PFT with Dr. Harris in 2002, my test results were somewhat below average, but still within the “normal range”. Dr. Harris had several other patients with low alpha-1 antitrypsin levels (not as low as mine), and all had developed emphysema. But, he couldn’t draw any conclusions from that, since they were also smokers (talk about your Darwin award candidates…). He told me there was no reason to start the alpha-1 replacement therapy unless I dropped below the normal range, but it was a serious watch item.

So… over the past 10 years, my lung functionality has not only not deteriorated, but it has improved over where I first began. I was just below average when I started having these, and now I am slightly better than average.

With the improvement in my lung functionality, Dr. Harris has gained enough confidence to require only 1 PFT/year, and yesterday, let me in on some information I suspect he didn’t think would have served any positive purpose to have told me back in 1992. If I had seen him a year prior, he would have recommended that I immediately start the alpha-1 antitrypson replacement therapy. Apparently, it had been quite the revolution when it was introduced to the market, and it was generally regarded in the medical field as something that doctors had a moral obligation to seek for patients that had super low alpha-1 antitrypsin levels, even if it meant doing battle with insurance companies. It was within the months before I first saw him in 1992 that a number of papers were published based on studies that suggested otherwise, and the medical field experienced kind of an awakening to the fact that the drug company that produced the therapy was behind much of the information that suggested it was a must-have for my condition. So, as a result, I became his first alpha-1 antitrypsin-deficient patient for whom he did not put onto the treatment. Since then, he’s had several more, who he also did not start on the treatment, and who’s conditions have not worsened.

So, I got lucky. It would have meant several significant strings attached to my lifestyle if I had been on the therapy this whole time. It might have significantly changed our financial situation, and the medication would have introduced other risks that could have caused severe additional complications. Plus, who knows what kind of facilities I would have required in order to have it administered. And, as he points out, we’d now be looking the results over the past 10 years, with my lung functionality improving, thinking it was entirely due to the fortunate existence of modern medicine and this therapy.

There’s no saying for sure that I won’t have to start the therapylater in life, but I feel pretty fortunate that I haven’t had to thus far.

Love to all,

PS : The gent in question is Derek Shaffer (who’s commented below). I had initially left out names for privacy reasons. I haven’t had the good fortune of meeting him,but happen to know his mother-in-law, the avid bird-watcher, insect-watcher, photographer, cyclist , famous blogger, etc. Deepa-ji, forgive me if I have missed out something. Here is a link to her blog.