You are currently browsing the category archive for the 'medical' category.
The Orphan Drug Act and scleroderma were mentioned in a recent editorial published in the Wall Street Journal by Ed Rensi, CEO of McDonalds. Mr. Rensi explains how the Orphan Drug Act made it possible for companies to invest money in research for diseases that affect less than 200,000 americans, and how this legislation has made collaboration between for-profit and nonprofit organizations possible. Mr. Rensi gives the example of the Ronald McDonald homes. Link to the article is here. Here is an excerpt:
The Orphan Drug Act has made it easier for many nonprofit organizations to partner with companies to find treatments for rare diseases. That includes the Scleroderma Foundation, which is celebrating its 10th anniversary this year.
Scleroderma is a disease in which the body’s immune system attacks itself, causing the hardening of the skin, lungs and other organs. By funding research on the disease, the foundation is able to give clues to biotech and pharmaceutical companies on what avenues to pursue in developing treatments, or even a cure, for scleroderma. The foundation’s Research Grant Program has awarded more than $13.6 million, including more than $1 million in 2008 alone. Since the Scleroderma Foundation came into being, new insights have led to improved lives and – importantly – years of survival.
Companies such as Pfizer and Actelion have developed treatments that help to better manage the myriad symptoms and complications caused by diseases such as scleroderma and, thus, have made life better for countless numbers of people throughout the U.S. and the world.
I recently came across a very interesting paper published in the journal Arthritis and Rheumatism (found online here) from a group in London who have a developed a mouse model of lung injury in scleroderma. Basically, the scientists made a mouse with abnormal transforming growth factor B (TGFB), a protein which helps regulate inflammation and which is found to be abnormally elevated in skin and lung biopsies of scleroderma patients. These mice sometimes developed lung injury which looks, under the microscope, similar the the type of lung fibrosis seen in scleroderma patients. The researchers found that by injecting the lungs of these abnormal mice with just saline, they were able to produce lung injury consistently. In normal mice, the saline caused no damage to the lungs and they had to inject a very caustic substance (bleomycin) to cause any lung damage.
Mice, of course, are not humans, and probably lung damage in scleroderma is more complicated that just the overproduction of TGFB. It is still exciting, though, that a mouse model of lung injury in scleroderma now exists and may potential lead to new and better treatments in the future. Doctors are not able to predict yet which patients will get lung involvement. It is also interesting to note that not all the experimental mice developed lung damage, suggesting that there may be some injury in scleroderma patients that causes them to develop lung damage.
Reference: Hoyles RK et al, “Fibroblast-Specific Perturbation of Transforming Growth Facter B Signaling Provides Insight Into Potential Pathogenic Mechanisms of Scleroderma-Associated Lung Fibrosis: Exaggerated Response to Alveolar Injury in a Novel Mouse Model,” Arthritis & Rheumatism, 58 (4), April 2008, 1175-1188.
The major problem that I have had with scleroderma has always been the Raynaud’s phenomenon. I began having Raynaud’s long before I was diagnosed with scleroderma, at the age of 15. I remember that I was in high school on a cold, wet November day, and my hands turned completely white. My best friend and I went to the school nurse to figure out what was wrong; she told me that it was pretty common, and not to worry about it. From then on my hands would occasionally turn white when I got really cold, if I was skiing or hiking. It wasn’t until years later, after I had already finished medical school and was in training to become a plastic surgeon, that I was diagnosed with scleroderma. From talking with other people, often the first sign of a systemic illness is raynauds. I think that most doctors do not take raynauds very seriously, especially in young women.
I have recently stumbled upon a web-based resource for people with raynauds, both primary (without an underlying cause) and secondary (with an underlying disease causing the process.) The web site is: www.raynauds.org. I especially have enjoyed looking through– and adding my own comments to– the discussion boards. And they have a list of products that are discounted for people who are suffering from raynauds.
Access my description of raynauds here.
To do or not to do, that is the question that has been on my mind today. Just because we CAN doesn’t always mean that we should. During our morning conference this am, we had a discussion about a case involving a newborn with multiple anomalies, including her liver in her chest, and an abnormal heart structure. She had a very low likelihood of survival at all, but even less a likelihood of “meaningful survival,” of being a normal child. The hospital team went ahead and put her on ECMO (heart-lung bypass) anyway and then took it away after two weeks of futile efforts, costing ungodly amounts of money for little benefit (to my mind at least). One of the arguments made at the conference was that advances in medicine are often made when seemingly “futile” procedures are done experimentally. But I can’t help but think that if I was this baby’s mother I would rather he died peacefully in my arms that surrounded by doctors and two 3/4″ cannulas in her neck.
This week’s Newsweek had an article about a new procedure that surgeons at UCSD have been trying what’s called “Natural Orifice Surgery.” Basically, a camera is inserted through the mouth and snaked all the way to the appendix. Then the appendix is removed from the inside. For the brave man who first had this procedure done, the operation took three hours, instead of about 30 minutes for a regular procedure. Who is supporting this research?
Some of natural-orifice surgery’s biggest cheerleaders are device makers: since 2005 at least 10 new companies have sprung up to manufacture technology for the emerging field. Established players, like Covidien and Ethicon, also work closely with doctors.
Not surprising. I remember when I was a surgical resident, the makers of a robotic surgical device set up a “learning station” on live pigs where the residents could practice the technique. The equipment was worth more than $1 million dollars, and the set up was tedious– an operation that could be performed safely in minutes was turned into one that could last hours and (to my mind, at least) not as safe. So why bother? It was technology in search of an application. (Interestingly, University of Chicago is touting it’s robotic heart surgery heavily in local and nationwide media.)
It’s astonishing to think how many children could be vaccinated with the money spent on ECMO run, or how many people with heart disease could get their medications with one robotic heart surgery. Why are our priorities dictated by what we CAN do in
I came across this article about a University of Georgia sophomore who is swimming in the Paralympic trials this summer. 
Lindsey Grogan was diagnosed with scleroderma when she was two years old and had to have surgery to remove part of her left leg several years later. (Although it doesn’t say in the article, I’m guessing she has the localized type of scleroderma, also known as “morphea” because of the appearance of her face. In addition, systemic scleroderma wouldn’t cause damage to a leg causing t1he need for amputation.)
What an accomplishment: Go Lindsey!
It seems as though I am in constant motion. Being a doctor is a very active profession. Obviously, you have to see each patient, lay hands on them, evaluate their complaints. Examining kids is challenging, too; often you have to hold them down to look in their ears or the backs of their throats. You have to bend over to press on their bellies, and sometimes chase them around the room if they get away from you and their mom. Then, I have an 18-month old at home, who still wants “up” often. And we live in a third-floor condo. All this activity add up–for me– to chronic aches and pains. I end up taking several pills a day of aleve or motrin and I worry about taking too much anti-inflammatory medication. The issue with scleroderma, too, is that most of us suffer with reflux as well which is often worsened by anti-inflammatory medicines. So I often end up taking more of my acid-reducing medicine, like Nexium.
COX-2 inhibitors (like vioxx, celebrex) are more selective for the inflammatory substances that cause pain in the body and have less stomach upsetting side-effects. These were a boon for arthritis patients who often have gastritis and even bleeding with conventional inflammatory medication. Unfortunately all these medicines were taken off the market in 2006 because of reports that they had increased the risk of heart attacks. The data actually showed that if you had no heart disease to start with, these medications were completely safe. These medications are still on the market, but they have a “black box” warning, which means that you have to have a special dispensation from your doctor to be able to buy them.
I had a hoard of free vioxx samples that I would take in special pain occasions– when the pain was really bad. Now my hoard is gone. So I’m stuck with doing a balancing act: should I help my pain and hurt my stomach, or vice versa?
My yearly PFTs were done recently and showed a 20% drop in my diffusion capacity and my total lung volumes. Although I usually am more worried about my yearly cardiac echo, PFTs are also nerve-wracking. As you sit in a cylindrical glass box and your nose is pinched with a plastic plug, you follow the technician’s instructions and blow in and out. We learned in medical school that this test is very “effort dependent” which is why we can’t use in children who are younger than about 7; younger children are not able to follow directions well enough to do well on the test. The technicians know that you have to follow directions and put in enough effort to the test in order for the results to be accurate, so they are generally very loud and scream “blow, blow, blow!!” Most will repeat the results if they didn’t think you tried hard enough. This most recent PFT, though, went a little TOO smoothly– no yelling or repeating of tests involved. I was worried even before the results came back that they might not be accurate. So I wasn’t overly concerned when I emailed my pulmonologist about the test results. He emailed me back right away (thanks, Dr. Naurekas!) and said he looked at the “flow loops” (the patterns that your respiratory cycle makes as they are recorded) looked normal to him and it didn’t look to him, based on what he could see, that my effort was poor. Therefore, he recommended a CT scan of the lungs.
That was quite a blow– for 6 years now, my PFTs had been completely normal. I had had a CT scan once before and that was normal too. Because I was scared I pushed Dr. Naurekas to order the chest CT asap; luckily I was able to do it in two days.
I’ve had a lot of medical testing done but somehow it never seems to get easier. I was nervously sitting in the waiting room for my name to be called and this woman plops down across from me. She looked like she was about 40, but very hard-living, and the right side of her face was swollen, the eye bulging from her head. She immediately starts screaming into her cell phone: “how am I supposed to get home? I got no money! You bastard!” on and on, seeming not to care who was listening. She hung up on one call and then dials another: “that dick, he punched me, I called the police, he’s going to jail, that’s the last time. They gotta check my eye now, I been waiting all day!” Several times I think she was trying to catch my eye but I was embarrassed for her and looked away.
My name was called and I was led into the CT scanner. I laid on a thin plastic bed and was moved in and out of a plastic-covered doughnut. It was a long scan. They were doing an “interstitial lung disease” protocol to see if I had developed any fibrosis, which required scans during breathing in and out, on my stomach and back. It took almost an hour to finish.
Just around the circular opening to the scanner is a thin window into the CT scan machinery which whirs around while the machine is running. I watched this whirring while I thought about the woman outside and how different her life was from mine. I wished I had said something to her. By the time I was done, she was gone. I had been myopically and completely focusing on what the CT scan would show and that lady’s conversations had snapped me out of that.
After all that, my CT scan was completely normal. Life goes on. Phew!
Today the actual AIR temperature is zero to -2. And don’t even think about the wind chill! As I went to my ER shift tonight, even with my down coat and my hothands in my boots and mittens, I thought I might freeze to death as I crunched through the dangerous-looking sparkling, frozen-solid snow. So, then, why am I thinking about watermelon in February in Chicago? Apparently I am at risk for something called “watermelon stomach.” I learned this in the clinic note that my rheumatologist wrote– and mailed me. She was the concerned that because I had increasing numbers of telangectasias on my face and in my mouth (see? I’m not crazy) and so she wrote in her letter that she was worried about my developing watermelon stomach. Apparently, in people with scleroderma, telangectasias can also develop in the stomach, in a weirdly stripy pattern resembling a watermelon (see picture). 
It’s actually not too serious as these things go; the fragile blood vessels in the stomach near the surface of the lining break open and can cause bleeding. Most of the time, the condition can be cured using a scope and laser surgery to burn up the tissue. The name of this new (to me) process made me think that it’s a weird propensity of doctors to name things after food. In pathology, we learned about all kinds of things named after different foods (”strawberry tongue” in strep throat; “cherry red” for carbon monoxide poisoning; “prune belly” a childhood syndrome; “sausage digits” in patients with psoriatic arthritis, etc, etc). I always thought it was odd, sitting in medical school lectures, to learn about a horrendous disease process that was almost gleefully named after food. Medical school teaches you how to place a distance between you and the patient: the first three months at medical school are spent dissecting a dead human being. After a while, the weirdness passes and the time spent dissecting becomes mundane– that dead person, so terrifying just a short time before, becomes just an object of study. Oddly, the formaldahyde preservative makes you starvingly hungry; we would all dash to the cafeteria after our morning’s work for a huge lunch. Perhaps pathologists are just a hungry bunch, having been exposed to formaldahyde throughout their careers. But I also think that naming scary things after something known, even comforting (like food) echos the distance that we learn in medical school to put between our patient and ourselves.
I have become passionate about advocacy for money for increased scleroderma research. I become involved at the state level and have been to Springfield 2 years in a row to educate our legislators about this disease. I was recently invited to join the national advocacy committee and we are traveling to Washington DC on Dec 11-12 to meet with our national senators and representatives. We are also meeting with Dr. Katz who is the director of the NIAMS (National Insitute of Arthritis and Muscloskeletal and Skin Diseases). NIAMS has a very nice informational webpage devoted to scleroderma. The Department of Defense has recently become an alternate funding source for cash-strapped researchers. This year, congress allocated $50 million dollars for 25 specific diseases for research through the Department of Defense and for the first time this year, Scleroderma was included (by itself) as one of those diseases (see DOD wording).
However, Pres. Bush has just vetoed the NIH funding bill that would increase governmental spending for medical research. The amount of money in questions (about $10 billion) is about 1/10th the amount allocated to the war in Iraq!
I will keep you updated about the results of our meeting with Dr. Katz and our “Mini Capitol Hill Day” in December. If you are interested in Scleroderma Advocacy, please contact me!
I hope to write about living with scleroderma, my experiences as a young woman living with a chronic disease. I plan on gathering information from a variety of sources to make living with scleroderma easier.
Recent Comments