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.

 One of the amazing people that I met this weekend at the Highland Park Scleroderma Foundation walk was Lisa Helfand, who found me through this blog.  She told me that she was diagnosed with scleroderma 23 years ago and is married with two kids.  She wrote with some tips for concealing her telangectasias.

The concealer that I use is by MAC- it is called “full coverage foundation“-this is the first layer I put on. Next, I use Studio Fix by MAC (second layer) and to finish it off, I use crushed powder by CLINIQUE.  You can only get the full coverage foundation at MAC stores (not MAC counters).

You can also get the cosmetics that Lisa recommends on the internet.  Despite her long-standing illness, Lisa seemed full of energy. She was very open about her struggles with scleroderma. I can vouch for her cosmetic suggestions– I thought she looked great and I couldn’t see her telangectasias at all.

Rep Tierney (D-MA) introduced H. Res 1232 on May 22, 2008 supporting the idea of a National Scleroderma Month. The Scleroderma Foundation’s advocacy committee has been working to secure more co-sponsors for this legislation, and you can help this effort.  With 50 co-sponsors, the bill does not need to go to committee and can be passed more quickly, and there are currently 20 co-sponsors.

You can figure out who your congressperson is, and how to contact them, by clicking here and entering your state and zip code. You will be given a contact phone number. All you have to do then is call that number and ask to speak to the Health Affairs Legislative Aide and tell them you would like to request your congressperson become a co-sponsor of H. Res 1232.  Leave a message with contact information if you can’t get through.

Become an Scleroderma Foundation advocate today by clicking here and filling out the online form. You will receive “action alerts” periodically prompting you to contact your legislators about specific issues of importance to the scleroderma community.

The bill currently has 20 co-sponsors, and I’m proud to say both of the legislators that I contacted (Bobby Rush and Danny Davis, from Illinois) signed on. Here is the complete list so far:

The Greater Chicago Chapter of The Scleroderma Foundation is having their annual walk in Highland Park this Sunday, June 22. Registration begins at 7:30, and the walk begins at 9am. You can walk either 1 or 3 miles.  It is a great opportunity to meet lots of nice people who have the disease or s

More information about the walk, and directions, are here.

Register online here.

Donate to my walk here.

A woman with scleroderma named Karen Sipe contacted me through this blog and we have been corresponding by email. I have permission to excerpt some of her story for you.

My husband and I own a small web based business and merged it with a manufacturing business my grandfather started, which my dad turned over to me in 2000.  I am 37 and was diagnosed at 23 [with scleroderma], after moving from San Diego to Wisconsin to go to nursing school with my boyfriend at the time after getting out of the Navy and getting my EMT-1 certification.   I had to change my major to psychology.  My Raynaud’s was out of control and I could not keep up with the schedule of upcoming clinical rotation.  I ended up being hospitalized and lost part of my thumb.  I did learn how to take precautions with the cold, but I was also in great denial and did not take better care of myself.     

I was diagnosed with Sarcoidosis in May of 2007.  I was exposed to quite a bit while in the Navy.  They had just started allowing women on ships and another girl and I  had to earn our safety gear by showing we could work just as hard as the males in our division.   I don’t know if she developed any problems…. My son was born in 2004, 2 months premature.  I developed HELLP Syndrome and lucked out by being referred to an excellent hospital in San Diego where 32 weeks was considered full-term.  My son attends daycare full time and is doing well.  He tries to straighten my fingers for me and I think it is really cute how he is trying to understand what is going on with mommy.              

 I have a history of many experiences basically fighting for care from the VA in the late 1990’s and recently as well as mainstream medical care.  I feel that some of my past and present medical problems, such as frequent digital ulcerations and  limited range of motion, could not have been completely avoided, but maybe the frequency could have been lessened had I learned to advocate for myself earlier.  There are two things I am working on, the first is to relay experiences briefly.  I have a tendancy to be wordy.  My goal is to share what I have learned without dispensing advise.  Most of all, I would like to raise awareness. 

I saw this advertisement in my Sunday paper a couple of weeks ago:

I don’t usually buy things from advertisements in my Sunday paper. But $12.97! Free Shipping!! Pain-free?!! I had to try them. (I actually bought them off the web, though, at www.dreamproductscatalog.com– does anyone actually cut out their address information and mail it in anymore? Apparently someone still must, to pay for all these ads.)

They looked like when I tried them on: 

They were pretty comfortable, although seemed somewhat cheaply made (not sure what I was expecting for $12.95). They also didn’t match very well with my particular skin tone, and I’m not sure what anti-arthritis properties they could possible have. I kept them on for a few hours and they did keep my hands warm and comfortable while I was working on the computer.  I don’t think I would wear them to work, though, even though they might make my hands warmer there. I felt like I would be very conspicuous.  I would probably wear something that was closer in color to my hands and was less cheaply made.  Other scleroderma patients have recommended “wristies“, fingerless gloves that come in a wide range of colors. Some even have a pouch for a hot-hands. I think I’ll try those next.

Dream Products, Inc. also has a number of other products, aimed at an older segment of the population. Browsing through the website reminded me of the catalogs that my grandmother used to get. 

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.

Annie and Tom, from Chicago, are competing against four other couples in this year’s Today Show “Race to the Wedding.” Annie was diagnosed with lupus when she was 17 and, according to the email sent by The Lupus Foundation of America  she initially thought that she would never find true love. But she met Tom, who recently asked her to marry him. You can read about their story at http://www.annietom.com.  I think it’s great that a cute, young woman with lupus is getting national exposure and I’m rooting for them!

Here’s Annie’s discussion of her lupus on their website:

Greetings Friends! I’ve received several questions about Lupus and figured I’d tackle them here with a little Annie spunk. Like I said in our video, I was diagnosed at the age of 17 after years of chronic illness. Throughout high school I dealt with a serious head injury, vasovagal syncope and what I like to call a “lazy immune system.” Finally, after dealing with an unbearable amount of fatigue and pain, a doctor suggested I visit a rheumatologist, who determined I had Systemic Lupus Erythematosus. Yeah, that’s a mouthful, so just stick to saying Lupus or SLE. Eight years later, I’ve learned to deal with the fatigue, pain, infections that won’t quit and overall annoyance of dealing with chronic illness. I still have bad days (and REALLY bad days), but luckily, with the support of Mas (Tom) and my family, I’ve had the opportunity to create a life where I feel like I hold the reigns over my disease and even managed to backpack around the world. Sure, I took a whole lotta naps and spent quite a few days curled up in a bed at a random European hostel, but still, Lupus won’t stop me from exploring life! I look forward to competing on Today Throws a Wedding and showing what a chick with SLE can do!

You can vote for Annie and Tom at:
http://today.msnbc.msn.com/id/24596237/

I’m currently making my way through a new book that I received from my father entitled The Autoimmune Epidemic, written by Donna Jackson Nakazawa (amazon.com link here).

The book is written by a journalist who suffers from an autoimmune disease known as Guillain-Barré syndrome which causes progressive paralysis.  Her own struggles with this disease prompted her to write a book about the dramatic increase in the spectrum of autoimmune diseases, including scleroderma.  Approximately 23.5 million americans suffer from autoimmune diseases, a staggering 1 in 9 women– which makes it more likely that you will suffer from an autoimmune disease of some type than that you will have a heart attack or cancer, and this is a 3-fold increase since the 1950s.

Nakazawa’s theory is that the increase in autoimmunity that has been observed is due directly to the increase in toxins in the environment. In the forward to her book, Dr. Kerr (a neurologist at Johns Hopkins University specializing in transverse myelitis) discusses studies in which mice were injected with chemicals found in our environment and subsequently developed lupus-like conditions.

I am initially skeptical about this premise, but I’d like to keep an open mind. My father, who gave me this book recently, has always thought that my stressful career choices cause me to develop scleroderma, and he greeted my initial diagnosis with a list of different fruit and vegetable juices to take throughout the day. I recoiled from the presumption that this disease was somehow my fault.  But there must be an explanation for the explosion of autoimmune disease, and I’d like to see what evidence Nakazawa presents.  

The quote that opens the book is from the NIH:

Autoimmune disease: Normally the immune system’s army of white blood cells helps protect the body from harmful substances, called antigens.  Examples of antigens include bacteria, viruses and toxins… But in patients with an autoimmune disorder, the immune system can’t tell the difference between healthy body tissue and antigens. The result is an immune response that destroys normal body tissues.

I’ll keep you updated as I make my way through the book. Anyone want to read along with me?

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.