Melissa Warde's life was forever changed 21 years ago when, at the age of 15, she was diagnosed with scleroderma. At the time, little was known about the chronic connective tissue disease, which involves the hardening and tightening of the skin and fibers that provide the framework and support for the body. "I knew from that day forward, I could sit back and wait for the disease to progress or I could, to the best of my ability, work to control the disease within myself," Warde said during an Ask Stanford Med Google+ Hangout last week. "I knew I had to have a cheerful disposition, despite the tragedy that I was dealt, and of course having a positive attitude really helped me to focus on the winnings of life."
During the live conversation, Warde was joined by Lorinda Chung, MD, director of the Scleroderma Center and co-director of the Multidisciplinary Rheumatologic Dermatology Clinic at Stanford, and Karen Gottesman, patient services director for the Scleroderma Foundation of Southern California, for a panel on scleroderma research and progress being made to enhance patients' quality of life.
Chung opened the discussion with an overview of recent modifications to the disease criteria used in diagnosing scleroderma. Since no two cases of scleroderma are alike, the disease can often be difficult to diagnosis. However, early detection (.pdf) is critical for improving patient outcomes. Under the new criteria, physicians are directed to look for symptoms such as puffy fingers, capillary changes in the nail folds or Raynaud's disease, which is present in 90 percent of patients with systemic sclerosis. Chung said:
Previously, patients really had to have significant, pretty obvious, skin tightening in order to meet the classification criteria. Or have interstitial lung disease or pulmonary fibrosis, which is scarring in the basis of the lungs, in order to meet the criteria.
These new classification criteria will enable rheumatologists, who may be less experienced in scleroderma, to detect early signs and then refer [patients] appropriately for an accurate diagnosis.
Following Chung's update on the modifications to the disease criteria, Gottesman spoke about how patients can mange stress related to learning they have a rare, incurable disease and continue living life to the fullest. She advised:
Really learn to be your own advocate. Part of that means educating yourself, not only on all the different aspects of the disease, but also on what type of scleroderma you have so you are aware of possible symptoms that come up.
I think what scares a lot of patients and is really stressful is when you hear of a disease that doesn’t have a cure. But you have to keep in mind that there are hundreds of diseases without cures and we have a lot of treatments in the toolbox to treat the symptoms. At the end of the day you have to learn to co-exist with the disease and that process is really different for every single patient.
Being a proactive patient, Gottesman said, also means being a compliant patient and following through on properly taking any prescribed medications, completing physician recommended tests and other instructions from health-care providers. She said, "If you have a different game plan in mind, then you really need to be upfront [with your doctor] about what it is you need and what you think you want to do, so that you can communicate. That will help you in the long run."
As the conversation continued, the three women explored a range of topics, including pulmonary hypertension. The condition is the second-leading cause of death among patients with scleroderma, and a recent study showed that the risk of death for scleroderma patients was almost seven times higher among those who developed pulmonary hypertension within the first three years of disease. Said Chung:
The reason it's so important to undergo screening for is because we now have a whole slew of medications that are approved by the FDA to treat pulmonary hypertension. If you screen for pulmonary hypertension, then you’ll can catch it early and hopefully institute treatment to prevent progression from occurring too quickly. We recommend all patients with systemic sclerosis undergo screening for pulmonary hypertension at baseline.
Digital ulcers, a common complication of scleroderma, were also discussed. This is an issue that Warde is particularly knowledgeable about: She was hospitalized eight times because of them, and she participated in a 2009 clinical trial with Chung to evaluate ambrisentan, an approved medication for pulmonary hypertension, for the treatment of digital ulcers. When amputation became a possibility, she had a surgical procedure called a digital sympathectomy in 2010. In outlining her various treatments and procedures, Warde said, "I’m happy to say I’m doing much better."
Chung noted the medications Warde took to control her digital ulcers were only accessibly to her because she was either hospitalized or participating in a clinical trial. She said, "In the U.S. we don’t have any FDA-approved therapies for the treatment and prevention of digital ulcers. There are additional medications that we use off label in order to improve blood flow to patients' fingers and most of these medications we’ve borrowed from the pulmonary hypertension treatment algorithm."
The full discussion is available to watch on the Stanford Medicine YouTube channel.
Previously: Another piece of the pulmonary-hypertension puzzle gets plugged into place, Patients with rare diseases share their extraordinary stories and Restoring hand function with surgery