Becoming a proactive patient is key to managing this rare autoimmune disease.
By Linda Slusser
The first time my fingers grew painfully cold, turning purple, then white, and then back to a normal pink, the temperature was 60 degrees. It was April and I had been walking my dog. Over the next few weeks, any kind of cold—even an icy glass of water in my hand—triggered the same reaction in my fingers.
My primary care physician identified my symptoms as Raynaud’s phenomenon and sent me to a rheumatologist, who took a history, did an exam, and ran blood tests.
“The Raynaud’s is only one part of your condition,” he explained. “You have a rare autoimmune disease called scleroderma. It is incurable but treatable.”
What Is Scleroderma?
Scleroderma is a connective tissue disease where collagen is deposited in the skin and organs. Tissue thickens, causing the skin to harden and damaging internal organs. Kerri Connolly, director of programs and services at the Scleroderma Foundation, says that an estimated 300,000 people in the United States suffer from scleroderma; 75 percent of them are women. Onset usually occurs between the ages of 30 and 50.1
Soumya Chatterjee, MD, MS, FRCP, director of the Scleroderma Program and associate professor in the Department of Rheumatic and Immunologic Diseases at the Cleveland Clinic, says that about 20 new cases of systemic scleroderma are diagnosed per 1 million Americans each year.
There are two main types of scleroderma: localized scleroderma and systemic sclerosis. In localized scleroderma, the mildest variety, usually only a few places on the skin are affected. Progression may stop even without treatment. Systemic sclerosis is the more serious variety, which can present in two forms: limited and diffuse.
Dr. Chatterjee says that two-thirds of patients diagnosed with systemic sclerosis will have the more benign, limited form. This form may be referred to as CREST syndrome, named for its common symptoms: calcinosis (hard, often painful calcium deposits in the skin); Raynaud’s phenomenon; esophageal dysfunction; sclerodactyly (tightened skin on the fingers); and telangiectasias (red spots on the skin).
More-serious complications, such as pulmonary hypertension, can develop later.
The diffuse form of the disease is the most severe and affects one-third of the patients with systemic sclerosis, according to Dr. Chatterjee. Many of the body’s internal organs can be damaged in this form, and it can become life-threatening.
Begin with Two Things
Feeling stunned and scared upon diagnosis of scleroderma is a natural first response, but there are steps you can take to empower yourself and move forward.
First, as tempting as it may be, do not randomly roam the Internet for information. You will encounter worst-case scenarios, as well as incorrect information. If you do search for information and find statistics or firsthand accounts that frighten you, don’t panic. Scleroderma is “not automatically a death sentence,” says Dr. Chatterjee. A milder form of the disease does not necessarily shorten one’s normal life span. Even if you have a more severe form involving major organs, treatments can manage most symptoms.
Second, find a doctor—ideally a rheumatologist—who has expertise and experience dealing with scleroderma. It’s good if the doctor practices close to your home, better if he or she is part of a group that can work with the different organs scleroderma can affect, and best if the group is associated with a research university or scleroderma center.
If your local primary care physician is less familiar with scleroderma, you can still benefit from the knowledge of an expert working in a larger research setting: patients often travel to a center where experts specialize in scleroderma to formulate a care plan and then return once or twice a year to update their treatment plan; their local physician consults the expert between visits as needed.
Dr. Chatterjee says that, at the initial visit, the expert will typically do five things:
- Confirm the scleroderma diagnosis.
- Determine the extent of the problem.
- Identify which organs are involved.
- Decide what further testing might be needed.
- Recommend a treatment plan and, if more than one organ is affected, prioritize which one will dictate the overall management of the disease.
Consult Reliable Resources
After you have had an initial consultation with an expert on scleroderma, spend time learning about the disease and your specific situation by consulting reliable sources. The following patient-oriented websites provide good overviews of the illness:
- American College of Rheumatology, rheumatology.org
- Cleveland Clinic, my.clevelandclinic.org
- Mayo Clinic, mayoclinic.org
- Scleroderma Foundation, scleroderma.org
In addition, The Scleroderma Book: A Guide for Patients and Families (Oxford University Press, 2005) by Maureen D. Mayes, MD, offers a comprehensive discussion of how scleroderma affects the organs. Dr. Mayes devotes chapters to the skin, kidneys, gastrointestinal tract, lungs, heart, musculoskeletal system, and related conditions. In addition, she addresses patients’ concerns about sexuality and pregnancy.
Meet Again with the Expert
Armed with some basic knowledge, you are ready to schedule a follow-up appointment for a candid dialogue with the expert. This conversation is critical because with the scleroderma diagnosis you have become a “snowflake”—the word patient Mariann Boyanowski chooses to capture the unique way scleroderma appears in each patient.
“No two scleroderma patients are going to be the same,” Dr. Chatterjee explains. Scleroderma “is different from lupus or rheumatoid arthritis, which are often treated the same way through a hierarchy of medications.” With scleroderma, he says, your treatment plan will be “custom-made based on what your needs are.”
As you discuss your unique diagnosis and symptoms with the expert, you have the opportunity to become a proactive patient. Before the appointment make a list of questions; during the meeting (and all that follow, including phone conversations) take notes to record the doctor’s responses and any information you want to remember. Some patients opt to take a tape recorder or a friend or family member to help take notes and absorb the information. (If you do want to record the conversation, be sure to get permission from the doctor ahead of time.)
Be sure you get all the information you need during your visit with the expert: explore short-term and long-term expectations; ask about the possible impact on quantity and quality of life; zero in on concerns specific to you, such as the organs involved, treatment plan and potential side effects, adjustments required at home and work, and specialist referrals. When the appointment ends, be sure you know how the doctor prefers to be contacted for any follow-up questions that may arise.
Adopt Coping Strategies
Everyone with a chronic illness faces losses and accompanying grief as they try to adapt to a new reality. Nurse practitioner Megan Liddicoat, RN, BSN, tells scleroderma patients:
“Acceptance is a shift that focuses on how to live—and I would put LIVE in capital letters—with the illness while not being defined by it.”2
The following are some suggestions for coping with scleroderma.
- Eat A Healthy Diet. Consulting a dietitian would be worthwhile.
- Try walking, strength training, yoga, and chair exercise—whatever you can manage.
- Pace Yourself. Eliminate nonessential responsibilities, and rest when you need to, even for 15 minutes at a time.
- Investigate Aids For Symptoms. Mittens with finger-warming inserts for Raynaud’s provide relief.
- Try Creative Therapy. Journaling, drawing, or other creative pursuits may allow you to express your feelings and relax in a healthy, productive manner.
- Pray Or Meditate. Patient Molly Petsch’s most important coping mechanism was “depending on my lifelong habit of prayer and meditation.”
- Seek Out Fun. Participate in activities that bring you joy—either things that have always been a source of fun or, if necessary, new activities that suit your current abilities.
- Accept Support. Family and friends are not your only bolsters. Connect with support groups, in person or online. Liddicoat says that finding even one other person to talk with on the phone could be enough: “Sometimes it helps to just have somebody else that can understand what you’re going through.” Speaking with a therapist, far from showing weakness, provides you with a neutral adviser.
Face the Future with Hope
If you are facing a new diagnosis of scleroderma, know that though the journey ahead will present challenges, there are proactive steps you can take to live well with this condition.
- “Educate yourself the best that you can,” says Dr. Chatterjee. “An educated patient does a lot better than somebody who doesn’t want to know and relies entirely on the physician.”
- Be Aware. Pay attention to what is happening with your body, and see your doctor when and as necessary.
- Seek out other patients through in-person, online, or phone meetings, regional conferences, and the National Scleroderma Convention. Making these connections will help you learn about the latest research and find support.
- “Rediscover humor, laughter, and play,” says Liddicoat.
- Embrace Positivity. Look forward, not backward.
- Set Goals. This diagnosis may alter your course, but you can set new goals and see them through.
Remember that you are a person who happens to have scleroderma; the disease need not define you. Take control. Choose to live the best life you can imagine.
- Merkel PA. Scleroderma. American College of Rheumatology website. Available at: http:/www. rheumatology.org/I-Am-A/Patient-Caregiver/ Diseases-Conditions/Scleroderma. Accessed October 19, 2015. 2. Liddicoat M. Webinar #6—Grief to Hope: From Loss to Healing. Scleroderma Research Foundation website. Available at: http://srfcure. org/for-patients/webinars. Accessed October 19, 2015.
Gottesman K. The First Year: Scleroderma: An Essential Guide for the Newly Diagnosed. New York: Marlowe and Company; 2003.
Mayes MD. The Scleroderma Book: A Guide for Patients and Families. New York: Oxford University Press; 2005.
Patients and Newly Diagnosed. Scleroderma Foundation website. Available at: http://www. scleroderma.org. Accessed October 20, 2015.