Texas Bluebonnet Chapter Newsletter Winter/Spring 2014

President’s Welcome Message

Dear Partners in the fight against Scleroderma, It is hard to believe we are already looking at March! Time has gone by so quickly and we are in full swing of activity. Our Board for the Texas Chapter has some wonderful ideas and we have started to implement several of them. Over the next several months our Board Members will be visiting all of our Support Groups and we are looking forward to meeting all of you. Follow us on Face Book and our Website. Jasminne and Jacob are working to get our social media current and running smoothly. Fundraisers are already in the works with several walks, patient educations, dinners, rummage sales and disc golf tournaments. These are just a glimpse of some of the things we have coming this year. Stay tuned we have a lot more in store! - Audrey

What's Inside: Become A Member Today!

1- Meet Your Board of Directors 2- Scleroderma Stories The Scleroderma Foundation TX Bluebonnet 3- The Doctor Is In-Finger Ulcers Chapter needs you! 5- Chapter News & Events Are you a member already? Do you receive the 7- Scleroderma Spotlight: Johns Scleroderma Voice? Do you need to renew Hopkins Study your annual membership? Not sure? Please go to our chapter page and sign up to become a member of the TX chapter today. Get Connected! Your membership keeps you up to date on chapter news and events and helps raise TX Chapter FB Page awareness and provide funds for research. San Antonio Facebook Page Check out: www.scleroderma.org for more Corpus Christie Facebook Page information. Scleroderma Foundation Facebook Twitter: @sclerotxchapter

Updated Support Group Contact Info

To get in touch with your local support group leader please click HERE.

Meet New Board Members

Jasminne Mendez “I was diagnosed with scleroderma in May 2007. At first the diagnosis was very scary and unnerving.

I did some research and found that there were support groups in my area and a community of people who shared my experience. I became an active member in

the Scleroderma Foundation TX chapter participating in walks and volunteering at events. I decided to Why did you become a board member because I want to help become spread awareness and increase the public’s interested in the understanding of what scleroderma is and how they can help find a cure.” Scleroderma

Foundation?

Karen Padgett

“I am interested in the Scleroderma Foundation because it makes me feel Sue Lane

like I have found a place where I belong and people will understand

what I'm going through. I became a member of the board “I am interested in becoming a more because I want to be involved in active member of the Scleroderma planning how to improve ways to Foundation because my best friend from educate the general public, work five years old was taken by Scleroderma closely with other's on making about eleven years ago. I would like to decisions on fund raising and improve help find a cure and I am aware of the our support group attendance as well amount of research that needs to be as get the chance to work with done and the funding necessary to medical professional's to educate the accomplish that. As a board member, I ones that aren't familiar with this would like to try to get into the illness. Lastly, I want to help find a corporations to get grants or large cure so no one else will suffer with donations for research. I also see a need this mean illness. If I can make the for public awareness because very few difference for just one person it has people have ever heard about it or all been worth my time.” understand what it is. Therefore, it is my hope that I can be helpful in those areas.” Scleroderma Stories

“I accept my scleroderma, because it's who I am.”

My name is Kelly Marie Williamson and I am 17 going on 18. I was born on April 4th, 1996 to my parents Robert and Betsy Williamson and my 3 siblings Kyle, Karis and Kenney. I lived in South Florida for the majority of my life until 9 months ago, when I moved to Houston. South Florida however, is where my journey began when I was four years old and my scleroderma started showing in the form of white spots on my body. My pediatrician decided to send me to a dermatologist because she wanted them to confirm that I had Vitiligo, but when I went to the dermatologist they found a lesion in the crook of my right knee. They took a biopsy and when the test results came back negative we had no reason to believe it was Vitiligo. One afternoon, some months down the road, my father took my sister for a doctor’s visit to the same pediatrician and I went along for the ride. Upon seeing how advanced my scleroderma had become, it now included dark, hard patches of skin, she referred us to a pediatric rheumatologist and a pediatric dermatologist. In May of 2001 I was officially diagnosed with Linear Morphea Scleroderma by Dr. Rafael Rivas Chacon, of Miami Children's Hospital, along with a Chiari I Malformation and Sleep Apnea. In the years to come I had my tonsils taken out to cure my sleep apnea, and Dr. Rivas Chacon started me on the medicines. I was on Methotrexate, Prilosec, Prednisone, and Folic Acid, which we were told was like a pill form of Chemotherapy. As life continued I stayed on my regiment of medication and doctor visits. With the scleroderma spreading down my leg I endured physical therapy to help the continuation of my muscles ability in my leg as I grew. I used a wheelchair as a child quite a bit because walking for long periods of time was a difficult task for me. When I was four years old, the Make A Wish Foundation granted me my wish of going to Disney World with my family, where I celebrated my fifth birthday.

In the following years I grew up like a normal kid. I went through school although adjustments were made to make me comfortable in my classes, like taking my shoes off because of the deformities on my right leg, or taking naps because my medication made me drowsy. Most of my teachers even took their time to research the disease so they were more knowledgeable. When I hit middle school I had to have my doctor write notes for me to get out of dress code due to the unevenness of my hips, and to also get out of certain activities in gym. I went through a stage where I didn't know what to do with my body. I was uncomfortable with it and it's changes when I hit puberty because I had different issues then most girls. As a teenager afflicted with scleroderma, I looked at life through a different lens. I lived on a deeper emotional level than most others, and I had a deeper sense of compassion. I never judged others because I knew what it was like to be judged. While growing up I always tried to give everyone a chance, and let them know that I was absolutely one person they could count on as a friend. I always say: "I accept my scleroderma, because it's who I am." My journey with scleroderma has led me to experience moments that have made a lasting impact on me. I grew up caring a little more, understanding a little more, and loving a little more. I have met so many wonderful people and bonded over the fact that we have an illness, whether the same or not, that most people haven't heard of. And within each of those separate moments, over time, I learned I am just as normal and regular as the rest of the kids around me. I am just unique. This disease has sculpted me physically and mentally. It has helped me realize over the years that just because I have this disease doesn't mean I can't achieve my dreams. I see my future being bright and long. I know that I'd like to go to college and head into the field of chemistry and create cures for diseases. I'd like to continue on in my journey of spreading my story about my life with scleroderma and I'd love to find more kids with scleroderma so I can make them realize that they aren't alone.

The Doctor Is In

This winter has been a brutal one, even for us Texans. We have battled ice, snow, and cold rainy days. For those of us living with scleroderma, the cold can wreck havoc on our hands. Raynaud’s attacks can be severe and lead to digital ulcers. For our first “The Doctor Is in” segment, we interviewed world renowned Dr. Shervin Assassi on what ulcers are and how Scleroderma patients can manage this often painful and debilitating symptom.

What are digital ulcers? Digital ulcer is a breakdown of the skin on the fingers. Digital ulcers in scleroderma patients occur typically on finger tips or knuckles.

Why do Scleroderma patients get ulcers?(Causes?) The ulcers on the knuckles are typically cau sed by skin thickening and/or minor trauma while the ulcers on the fingertips are caused by the decreased blood flow to this area. The low blood flow is initially caused by the Raynaud’s phenomenon. Raynaud’s phenomenon is an exaggerated, temporary tighte ning (constriction) of finger blood vessels in response to cold or emotional stress which leads to color changes (white, blue, red) in the skin of fingers. In addition to this temporary tightening of blood vessels, persons with scleroderma can also have permanent damage in the small vessels of fingers which also impairs the blood flow to finger tips. Raynaud’s phenomenon along with this structural damage in finger vessels are the main causes of fingertip ulcers in scleroderma.

What are some of the sympto ms of digital ulcers? The typical symptom of digital ulcers is pain which can be severe. There can b e also drainage from the ulcer. Raynaud’s phenomenon can lead to temporary color changes in the skin of fingers. It can also lead to tingling and pain.

Is there anything scleroderma patients can do to prevent them? Scleroderma patients can prevent fingertip ulcers by treating Raynaud’s phenomenon. The following can be done by patients for treatment of Raynaud’s phenomenon: Maintaining whole body and fing er/toe warmth, avoiding cold exposure (if possible), and avoiding smoking. The patients should also talk to their rheumatologists regarding medications for treatment of Raynaud’s phenomenon.

What are the signs and symptoms of an infected ulcer? Finger ulcers can get infected. Signs of infection are enlarging redness around the ulcer or drainage of pus. Fluid collections with pus (abscess) nearby the ulcer can also occur. The infection can also spread to the nearby bones, which can lead to non -healing, difficult-to-treat finger ulcers.

The Doctor Is In Cont’d

What tips/recommendations can you give patients to help protect ulc ers and keep them from getting infected? It is important that patients keep the finger ulcers clean. If the wound is large, it can be covered with sterile gauze. Also professional wound care can be helpful. It is also very important that patients do not t ry to drain the wound fluid with non-sterile instruments, because this can lead to infections. If absolutely necessary, any surgical manipulation of the wound should occur by a physician that has sufficient experience with scleroderma ulcers in order to limit cuts because scleroderma patients have wound healing problems on their fingertips. Also avoiding finger sticks (e.g. for measurement of blood sugar) at home or in the hospital is very important.

If an ulcer is infected what should a patient do?

The patient should contact the treating rheumatologist as soon as infection is suspected. Evaluation by the physician and treatment with antibiotics are recommended as soon as possible. It is also important that an infection of the finger bones is ruled out .

What are some common treatments a patient can ask his/her doctor about to treat ulcers?

The primary focus of prevention and treatment of digital ulcers is directed toward decreasing the frequency and severity of Raynaud’s phenomenon. The main goal of t reatment is to widen (dilate) the finger vessels in order to improve the blood flow. Calcium channel blockers (e.g. amlodipine or nifedipine) are typically used as first line treatment. Patients who do not have sufficient relief from calcium channel blocke rs can use additionally topical nitroglycerine ointments or patches at the finger base.

Another group of medications called phosphodiesterase inhibitors (e.g. sildenafil, tadalafil, or vardenafil) can also be us ed for treatment of severe Raynaud’s phenomenon. It is important that these medications are not used in combination with nitroglycerine as the combination of these two drugs can lead to low blood pressure and other serious side effects. Other medical treatments such as endothelin -1 inhibitors or prostacyclin analogue infusions can be also used for difficult -to-treat ulcers that have not responded to the above treatments.

A surgical intervention to decrease the nerve stimulus for tightening of finger vessels

(sympathectomy) is also performed in som e centers.

As mentioned above, it is also important that any infections are treated with the appropriate antibiotic treatment. Professional wound care can be also important when the ulcer is large.

Dr. Shervin Assassi is an Associate Professor of Medicine at the University of Texas in Houston. He has

obtained his medical degree from the University of Freiburg in Germany. He has completed his post-graduate

training in internal medicine and rheumatology at UT-Houston, where he has also obtained a Master's degree in Clinical Research. He is currently the associate director of the UTHealth Scleroderma Clinic which is one of the largest specialized scleroderma clinics in the USA. He has completed several studies on clinical and molecular factors predicting important outcomes in scleroderma, such as interstitial lung disease, fatigue, and scleroderma renal crisis. He is currently the principal investigator of NIH and Foundation supported projects for developing biomarkers that predict the disease course in persons with scleroderma.

Chapter News & Events

Stepping Out to Cure Scleroderma 5k Walk/Run

San Antonio, TX

The San Antonio walk took place on October 12, 2013 at Woodlawn Lake Park. There were over 1,000 people in attendance with at least 800 people walking or running. There was a high school band and cheerleaders from Antonian Preparatory High School to cheer and lead us on. Children were able to enjoy face painting, moonwalks, and a cotton candy machine. Tasty food was provided by The Egg and I breakfast. Participants were able to enjoy music by the Children’s Christian music band "S3". Special thanks go out to Sergio Barrera for volunteering as the Emcee for the morning and to Camp Diasozo for providing the children’s activities. Numerous raffle items were also donated and the group was able to raise over 30K! Thank you to all the patients, family and friends who volunteered to help that day. And a big thank you to all of the sponsors: Stepping Out to Cure AJ Reygadas-Realtor Scleroderma Walks South Texas Orthodontics San Antonio Black Police Officers' Coalition The TX chapter is currently planning South Texas Center for Pediatric Care walks at the following locations for 2014: Camp Diasozo San Antonio, Dallas, and Houston. Stay Actellion tuned for more details! David Massey Insurance Services TRDI

Arthritis Associates Artist’s Corner

The Egg and I In this section we would now like to include

La Vraie Beaute images, artwork, poetry, short stories etc.

that help you express how you and/or your loved ones live with and manage your scleroderma. If you have something you would like to Neurology: Suite 1014 –Jasminne Mendez share [email protected]

When you’re in /a hospital gown/you are not a teacher. /Or a writer /or an actress /or a poet /or anyone special. /You are an exposed /and fragile /patient. /You have no /socia l status /and your humility /and/or ego /is irrelevant. /You are /a lab rat. /As unnecessary /as the joke /the nurse makes/to try and make you/feel "comfortable". /In a faded paper g own /you may/as well /be naked

/on a freeway. /Stripped from your persona/you lie on a cold /hard hospital bed /clinging to the

only/shred of dignity /you have left /which hangs /miserably on the unintentional "thank you" /that escapes your mouth/as the doctor hurriedly /leaves the room. /You don't have a right /to ask questions in the gown. /No you have to be fully/dressed /before you can do that. /You cannot pretend /to be modest /about your lopsided breasts /and hairy knees /because your sudden /imperfections /won't change the test results. /And being comfortable /or anything more positive /than anxious /would make you seem/ arrogant/Because /in a hospital gown /you are just sir or ma’am /and I'm sorry and /I hope that doesn't hurt. /Nameless. /Shameless. /A forgotten face /in a pile of folders/that will only /be remembered /if you're asked/to come back /and do it /all /over /again.

Scleroderma Spotlight: Johns Hopkins Study

CANCER MUTATION LIKELY TRIGGER OF SCLERODERMA

Release Date: 12/05/2013 Findings could reshape research on cancer origins and treatment of other autoimmune diseases

Johns Hopkins scientists have found evidence that cancer triggers the autoimmune disease scleroderma, which causes thickening and hardening of the skin and widespread organ damage.

A report on the discovery, published in the Dec. 5 issue of Science, also suggests that a normal immune system is critical for preventing the development of common types of cancer.

According to researchers, patients with scleroderma often make immune proteins or antibodies to another protein, called RPC1. These antibodies are believed to cause the organ damage characteristic of the disease, and the reason behind this antibody production has remained unknown. The Johns Hopkins team showed that cancers from a majority of patients with severe scleroderma had a mutation in a gene called POLR3A, which codes for RPC1. These alterations created a “foreign” form of the RPC1 protein, which they say appears to trigger an immune response. The study used blood and tumor tissue samples from 16 patients with scleroderma and different kinds of cancer.

“Our study results could change the way many physicians evaluate and eventually treat autoimmune diseases like scleroderma,” says study investigator Antony Rosen, M.D. “Current treatment strategies that are focused on dampening down the immune response in scleroderma could instead be replaced by strategies aimed at finding, diagnosing and treating the underlying cancer,” says Rosen, vice dean for research, director of rheumatology and the Mary Betty Stevens Professor at the Johns Hopkins University School of Medicine.

Rosen says the team’s findings should spur research into the possible cancerous origins of other autoimmune diseases, including lupus and myositis, and whether immune responses to antigens other than RPC1 are involved.

The causes of autoimmune disease are largely unproven, says Rosen. Scientists have speculated that infections, chemical exposures and inherited genes could be triggers, although hard evidence is lacking. None of those explain the onset of scleroderma, which is estimated to afflict as many as 300,000 Americans of all ages and is not an inherited disease.

Scientists have previously found that some patients with scleroderma have a higher incidence of cancer. In the most severe cases of scleroderma, patients with antibodies against RPC1 develop cancers around the time of their diagnosis more frequently than patients who have other antibodies.

Rosen’s colleague and study co-investigator Kenneth Kinzler, Ph.D., suspected that the POLR3A gene encoding RPC1 may contain mutations that trigger the development of cancer and scleroderma. Kinzler and Bert Vogelstein, M.D., co-directors of the Ludwig Center at Johns Hopkins, scanned the POLR3A gene’s DNA code in tumor samples from eight scleroderma patients with cancer and antibodies against RPC1. Tumors from six of the eight patients had genetic alterations in the POLR3A gene. All eight patients developed cancers between five months prior to their scleroderma diagnosis and two and a half years after it. The close timing of patients’ cancer and scleroderma diagnoses suggests that the two are linked, say the scientists.

“As early cancers grow, the body is exposed to novel proteins caused by the mutations in the cancer and potentially opens a window to development of autoimmune disease,” says Vogelstein, Clayton Professor of Oncology at the Johns Hopkins Kimmel Cancer Center and a Howard Hughes Medical Institute investigator.

The scientists found no POLR3A gene mutations in tumor samples from another eight scleroderma patients lacking antibodies against RPC1. These patients also developed cancers, but most long after their diagnosis with scleroderma, with half getting cancer more than 14 years after their scleroderma diagnosis.

In two scleroderma patients with the cancer-linked RPC1 antibodies, Rosen’s team found that the immune system cells in the blood of patients reacted very highly to RPC1 protein fragments from mutated POLR3A.

In other experiments, immune T cells extracted from people with scleroderma were triggered by fragments of mutated RPC1 and recognized only the mutated RPC1 protein fragments. “Altogether, this strongly suggests that the mutations led to the immune response,” says Rosen.

Still, other experiments showed that long-lived, immune B cell antibodies from people with POLR3A mutations recognized RPCI whether it was mutated or not, demonstrating to researchers that once triggered, the immune response is capable of attacking both cancerous and normal tissues.

The findings revive a decades-old theory that everyone develops mutation-laden cells with the potential to morph into cancer. Through a process called immunosurveillance, the immune system detects and kills these cancer-prone cells. Full-blown cancers arise when immunosurveillance fails.

According to investigators, while evidence in supporting and refuting this theory had been gathered in mice, the new study provides the first evidence that this principle may be important in common human tumors of study participants, such as breast, colon, ovary and lung.

Study results may also help explain why, in some cases, people cured of cancer have also seen their scleroderma disappear.

“This study speaks to the power of the immune system and the emerging picture of harnessing the immune system to treat cancer, adding support to the notion that the immune system may be keeping cancers in check naturally,” says Kinzler, professor of oncology at the Kimmel Cancer Center.

"Study Suggests Link Between Scleroderma, Cancer In Certain Patients - 07/07/2010."Study Suggests Link

Between Scleroderma, Cancer In Certain Patients - 07/07/2010. John Hopkins, 05 Dec. 2013. Web. 31 Jan. 2014.