Orphan Drug Act and scleroderma

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.

Another story…

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. 

The themes of education of medical personnel and the need to increase awareness in general are recurrent themes in my discussions with people who have scleroderma.  Karen has a website on myspace: http://www.myspace.com/reloc.cfm?c=2&id=b3b78501-12d9-4021-860d-422331509202

You need to become a member of myspace in order to visit her site, but she is also working on a blog not related to myspace that I hope she will share with us in the future. 

Annie and Tom

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/

Alivia

  

Alivia Watson

 

The March 2008 issue of the Scleroderma Voice (published by the Scleroderma Foundation) features a young lady by the name of Alivia Watson who was diagnosed with scleroderma in 2005.  She underwent painful and costly procedures, including IVIG and methotrexate, and had suffered from digital ulcers, joint pain and tight skin.  She miraculously began to feel much better in February of 2007 and was taken off all medication. To this day, she is still feeling well.  Alivia and her family don’t know why she suddenly started feeling better, but they attribute much of their strength throughout the process to God.  Alivia’s mom said

We may never know why God chose to allow Alivia to have scleroderma, but we do know in our hearts that He made her special.

Alivia’s parents put together a website describing Alivia’s course: www.helpalivia.com

 

Poem for today

This is a poster that was part of an art exhibit by children hospitalized at Comer Children’s Hospital in Chicago, where I work. This particular poster really struck me with its honesty.  I think all of us with a chronic disease can relate.

If you can’t read the writing, here is what it says:

 

Suffering has created me

And smiles create fears

My mind once blown with color

Is wiped clean with the tears.

 

My heart won’t forget this

And my strength won’t forgive

My escapes do no justice

I’ve got a new life to live

 

I keep my feelings in the shade

My road ways haven’t reached the sun.

My trust in humans is withering

Alone, I’ll finish what has begun.

-Angel Katz, 17 years old

 

Pretty eloquent for a 17-year old, don’t you think? 

Can I help someone else?

I got an unexpected email last week from a former colleague, now an attending plastic surgeon living in a different state. I hadn’t heard from him in a long time.  He was my senior resident on the Transplant Surgery service in the days before laws restricted work hours for residents. We spent every 3 nights in the hospital and would often work more than 100 hours a week. He was a careful, thorough and fair senior resident, and he was respected by the general surgeons even though he was in training (as I was) to become a plastic surgeon.  When I resigned from my plastic surgery residency program, I never spoke to him personally about my decision or my illness.

This man’s nephew is in his second year of medical school and has wanted to be a plastic surgeon for a long time.  He was diagnosed just two weeks ago with an autoimmune disorder himself, and my former colleague wanted me to talk to him about his future in medicine, to be an example to him that there are other fulfilling options in medicine besides surgery.

Being asked to meet with this young man made me think back to my diagnosis of scleroderma as a surgical intern. My hands were turning blue in the operating room constantly, I was having reflux symptoms, and red blotches started appearing on my face. I knew something was wrong, but I had to convince the first doctor I saw to draw my blood. He told me “you work too hard and look to good to have anythign wrong.”  When I was diagnosed with CREST syndrome, I remember asking the rheumatologic specialists how the disease would progress, and whether I should quit surgical residency.  I remember asking if there was anyone that I could talk to about what my future would be like.  I tried to connect with other people with the disease, but the first few women I talked to were so diabilitated and depressed I couldn’t relate to them.  It seemed no one had gone through what I was going through.

I yearn to help this medical student through this time in his life, but I wonder in my heart what connection, if any, I’ll be able to make with him.  He has been diagnosed so recently that I’m sure he’s still in denial. When I was first diagnosed, I certainly denied a lot of realities. I didn’t want to believe that I would have to change a career that I was so passionate about, that I had worked so hard to get into. I didn’t want to believe that I would be in pain every day for the rest of my life, that having a baby and carrying him to term would be so difficult, that my appearance would change dramatically.  Denial is a defense mechanism that served me well early on– if all these realities had hit me at the same time, I couldn’t have gone on. 

I’m worried with all this baggage that I take to this meeting that I’ll be too intense and serious, that I won’t be capable of telling him what he wants and needs to hear. 

Swimmer with Scleroderma

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!