I remember sitting in a workshop at a Diversity conference in 1987 or so thinking about what the speaker was saying. I was feeling “old” in college at age 31. But this guy was telling me I was still very young because the people who were about to turn 50 then he said, should not be sitting around thinking about their retirement, but instead thinking about what they were going to be doing with their next 50 years. What he said made a lot of sense to me, even that long ago, and the trend has continued for people to live longer. Furthermore our retirement system in this country has fallen on it’s head.
Always figuring I would be one of the people to be around for the second 50 years, since I didn’t smoke, didn’t drink, got regular exercise and had a family history of extreme longevity I figured reasonable care would keep me around and alert to some age with three digits.
I was shocked when by age 45 I was knocked off balance with a horrible prognosis. I had Madelung’s Disease a 3500 year old condition first noted while they were building the Egyptian Pyramids. Pretty soon I was livid. People were dying and no one was doing anything. And because a surgeon had mistaken a Madelung’s mass for something else and had gone chopping into it and the masses seemed to spread throughout my body overnight. Things definitely looked bleak.
Frankly with a background in the fine arts and a degree in film, I saw myself as more the science fiction type than the science type. But I wasn’t about to give up my second 50 years without a fight, and doctors were telling me that they had nothing to offer. Madelung’s, a rare metabolic disorder long thought to be of lipid metabolism didn’t have a cure, surgery didn’t usually help, and there wasn’t even any treatment. I’d had years of experience doing research and I spent months on end sitting in front of my computer leafing back and forth in medical dictionaries, reading medical journal articles, and reaching an alarming conclusion…while a few people in other countries were studying Madelungs as a curiosity, in the United States, the official position was that there was no need to do anything.
A 30 year Italian study finished in 2002 told a very different story, Madelungs was deadly and debilitating in and of itself and people died decades ahead of when they would normally die, usually after years of misery.
I decided that while I might be able to cope with dying at a younger age I didn’t want to die like that, lying around for perhaps 20 years waiting to suffocate or starve the two most common modes of death in Madelungs.
I had come along at the right time, HIV patients on drugs called Protease inhibitors were getting something remarkably similar to Madelung’s save for the cause. I wondered if inhibiting protease in them was causing this in people with HIV might people with Madelungs simply not have enough protease to begin with? My Internal med doc heard the same things I did. It was supposedly a “different” protease. I decided with my docs agreement that there was really no reason for me to not try taking Pancreatic Enzymes. Amazingly I noticed immediate improvement. Other patients tried it and they too got better. Patients who did not try it, often on the advice of allopathic doctors who thought I was advocating a form of snake oil continued to get worse and in a couple of cases died.
About the same time, I happened to have genetic testing done, because there were a few notes in various places about a certain mitochondria mutation. Incredibly the first muscle biopsy didn’t give them a big enough sample and I only got part of the results to date. Even those have helped me somewhat, ruling out respiratory chain genetic problems and bringing to my attention the fact that I was low on levels of a few of the amino acids including a very important one, Taurine. I am now taking Taurine and another amino acid complex and have shown still more improvement. When my tests are completed there may be even more that we can do.
These things are not cures but they have bought me time, probably a lot of time, and eventually I decided that someone needs to start doing more with this and that evidently the only person caring enough to bother is me. I am actually quite worried about the future of HIV lipodystrophy patients too. Their situation is like a second coming of the old AIDS documentary “And the Band Played On” except this time around we’re talking about pharmaceutical companies who continue to insist that people take their PI’s. I am deeply concerned that saving someone from HIV and AIDS only to have them die of something equally awful is morally reprehensible and that there must be something they can do to make PI’s work without making people very sick with some other awful condition.
So I’m an old premed with a mission, hoping to continue to study Madelungs and really refine testing and treatment, and also hoping to care for and make things less awful for the many people with HIV Lipodystrophy, who unfortunately do not usually respond to taking Pancreatic enzymes the way people who have Madelung’s do.
What else…well I am only really interested in D.O. programs, and I live in Northern California. I am probably taking the MCAT in August 2006, but I’m really not in a big hurry, I figure if I keep plugging away at this, I’ll get there. I have a website about Madelung’s and the URL is in my profile for anyone who is interested. I’ve been involved with NORD (National Organization for Rare Disorders) as the patient contact for this disease since 2003, and have been blown away by the interest in my website which has over 7500 hits in just over two years. I was expecting maybe 100 hits a year. I got nearly 35 times that.
For those who sometimes feel taking on medicine in midlife is crazy, I have a great example I remind myself of now and again. My grandfather, who I unfortunately didn’t know -'cause he smoked and drank and was quite portly and died at age 60 ten years before I was born - died in 1946 ten years before I was born. He had finished medical school and gone on to become one of the early radiologists. He spent most of his 20’s learning his field and really wasn’t independent of training till age 30. I’m not quite 50. If I stick around and stay in Medicine till I’m 85 (and other than Madelungs I’m healthy as a horse and female so that isn’t really unrealistic) I will have practiced as long as he did if I’m done with school by age 55. It helps me put this all in perspective.
Anyway, nice to meet everyone and I look forward to a long stay in your midst.
Jenny
Wow - what a story. I’m speachless - sort of. I wish you all the luck - and you’ve certainly put an end to my little personal pity-party today. Thanks!
Look forward to seeing more of your posts.