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Autoimmune Disease

Autoimmune Disease, Chronic Disease, Patient Care, Pediatrics

A wake-up call from a young e-patient: “I need to be heard”

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often chronic diseases share their unique stories. Our latest comes from 15-year-old Morgan Gleason, who lives with the autoimmune disease juvenile dermatomyositis. 

Before June 18, 2010, the day I was diagnosed, I knew the medical system the way that most kids do. I went to the doctor for immunizations, physicals, sore throats and bones that might be broken. Then, I developed a rash on my joints. I started sleeping more than normal, was very weak in my muscles, and experienced frequent stomachaches and headaches.

At the age of 11, after a year of these symptoms, I was diagnosed with a rare autoimmune disease called juvenile dermatomyositis. I suddenly was in a whole new medical system. I had to learn to swallow pills, wait for hours in doctors offices, spend nights in the hospital, worry about what was happening, deal with some not-so-nice doctors and nurses, and endure a lot of pain. I also watched my parents get frustrated with figuring out medical bills and trying to understand all of the claim statements and appeal denials.

Now I take 21 pills a day, get two infusions a month by an IV, and give myself an injection once a week. I have more specialists than my grandparents, and I spend a lot of time as a patient.

This January, I was hospitalized for the second time in four months for meningitis due to a reaction from a treatment I received. After four days of little sleep and an excruciating headache, I made a video about my hospital experience and posted it online. To my surprise, the video got a lot of attention. Forbes, Time, the Huffington Post and other outlets wrote about it. I believe that the video was popular because my experience was a common one and struck a nerve with others.

I am appreciative of the care I have been given. I love the hospital where I get my treatment, and I think it’s a great hospital. The medical students, residents, attending physicians, and specialists are great doctors. The nurses are also really great. This is not an issue with the individual people or hospitals. The issue is much bigger, and it’s the way the system as a whole is designed.

My video had a few main points. I was frustrated that I couldn’t get any rest in the hospital. The system is designed around the schedules of the doctors and the desire to discharge patients by noon instead of around the circumstances and needs of the patient. Second, the doctors come in individually instead of coming together and addressing all the concerns at one time. Third, when patients are awoken from deep sleep, they’re not going to be as engaged as they would be when they are alert and comfortable. Finally, patients, and even children and teenagers, appreciate having the doctor talk with them instead of having the doctors talk over them or away from them in the hallway.

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Ask Stanford Med, Autoimmune Disease, Chronic Disease

Join Ask Stanford Med for a live discussion about scleroderma on Wednesday

Join Ask Stanford Med for a live discussion about scleroderma on Wednesday

hands_laptop_033114Although scleroderma is derived from the Greek words meaning “hardness” and “skin,” its symptoms affect far more than patients’ epidermis. The complex, rare disease can cause damage to the vascular system, lungs, kidneys and gastrointestinal tract with potentially life-threatening consequences.

On Wednesday at 4:30 PM Pacific time, we’ll be hosting an Ask Stanford Med Google+ Hangout about scleroderma research and progress being made to enhance patients’ quality of life. The live video discussion was organized in partnership with the Scleroderma Foundation and Inspire, a company that builds and manages online support communities for patients and caregivers.

Our panel of special guests includes Lorinda Chung, MD, director of the Scleroderma Center and co-director of the Multidisciplinary Rheumatologic Dermatology Clinic at Stanford; Karen Gottesman, patient services director for the Scleroderma Foundation of Southern California; and Melissa Warde, who was diagnosed with scleroderma at age 15 and has lived with the disease for more than two decades.

Panelist will address a range of topics, including:

  • Recent modifications to the disease criteria used in diagnosing scleroderma
  • The importance of patients being screened for pulmonary hypertension
  • The use of rating skin-thickness progression to help determine prognosis
  • A patient’s perspective on participating in a clinical trial
  • Efforts to develop online tools that enhance quality of life
  • Tips on how patients can live life to the fullest despite this debilitating disease

To participate in the discussion, watch the broadcast on the Stanford Medicine YouTube channel. A link to the hangout will also be tweeted on the @SUMedicine feed and posted on the School of Medicine’s Facebook page once the broadcast begins. Only panelists will be featured on screen, so audience members don’t need to be camera ready to join the conversation.

The public is welcome to submit questions for panelists in advance of the discussion by posting them in the comments section below before 3 PM Pacific time tomorrow (Tuesday). Questions can also be submitted during the live video discussion via Twitter using the hashtag #AskSUMed.

Previously: Save the date: Ask Stanford Med Google+ Hangout on Scleroderma April 2Another piece of the pulmonary-hypertension puzzle gets plugged into place, Patients with rare diseases share their extraordinary stories and Restoring hand function with surgery 
Photo by Judit Klein

Ask Stanford Med, Autoimmune Disease, Chronic Disease

Save the date: Ask Stanford Med Google+ Hangout on Scleroderma April 2

Save the date: Ask Stanford Med Google+ Hangout on Scleroderma April 2

Updated 03-25-14: Readers are welcome to submit questions for our panelists in the comments section below. We’ll collect questions until 3 PM Pacific time on April 2. A selection of the questions will be answered during the live video conversation, which will be broadcast on the Stanford Medicine YouTube channel starting at 4:30 PM Pacific time. A future blog entry will provide details on how to watch the Google+ Hangout.

***

3-17-14: An estimated 300,000 Americans are living with scleroderma, a chronic connective tissue disease that is generally classified as one of the autoimmune rheumatic diseases. While hardening of the skin is the most visible manifestation of scleroderma, symptoms of the disease vary greatly among patients and the effects range from mild to life-threatening. Researchers are still working to determine the cause of scleroderma, and currently there is no cure for the disorder.

To foster conversation about this complex, rare disease, we’re partnering with the Scleroderma Foundation and Inspire, a company that builds and manages online support communities for patients and caregivers, for a Google+ Hangout about scleroderma research and progress being made to enhance patients’ quality of life. Among the panel of special guests are:

  • Lorinda Chung, MD, director of the Scleroderma Center and co-director of the Multidisciplinary Rheumatologic Dermatology Clinic at Stanford. Chung is actively involved in clinical, translational, and epidemiologic research on systemic sclerosis and related connective tissue disease, and she’s the principal investigator on a number of clinical trials of new potential therapies for scleroderma patients.
  • Karen Gottesman, patient services director for the Scleroderma Foundation of Southern California. Both a patient and a long-standing patient advocate, she is author of The First Year – Scleroderma, An Essential Guide for the Newly Diagnosed. Gottesman is also a member of the Scleroderma Patient-centred Intervention Network (SPIN), an international consortium of scientific researchers and clinicians organized to develop, test and disseminate psychosocial interventions to improve the quality of life for scleroderma patients worldwide.

Audience members are welcome to submit questions during the live video discussion via Twitter using the hashtag #AskSUMed. Please save the date and join us on April 2 at 4:30 PM Pacific Time.

Previously: Another piece of the pulmonary-hypertension puzzle gets plugged into place, Rules for living with a chronic illness, Patients with rare diseases share their extraordinary stories and Restoring hand function with surgery

Ask Stanford Med, Autoimmune Disease

A closer look at the autoimmune disease vasculitis

When various forms of news media last week reported the cause of death of Harold Ramis, the writer/director/actor, as complications from the “rare autoimmune disorder vasculitis,” I can promise you there were many people who read that and said, “Huh?” for very personal reasons. These are people who, like me, knew that these reports weren’t quite right. Vasculitis is actually a family of at least 15 forms of this disease group and one not so rare when all those who have some form (perhaps as many as 3 million) are added together.

Research and clinical trials on vasculitis have been carried on in a handful of centers around the world. One long-time investigator in this area, also a teacher and clinician, is here at Stanford: Cornelia Weyand, MD, PhD, division chief of immunology and rheumatology. Wayand’s e-mail box was flooded last week, so we asked her to answer some basic questions here about the vasculitis family.

I understand the vasculitides are a family of diseases. Is there something all forms have in common?

A diagnosis of vasculitis means that there is inflammatory disease in the blood vessels.

All organ systems in the body have blood vessels. Therefore, all organ systems can be affected by vasculitis. Blood vessels provide oxygen and nutrients to the tissues. Inflamed blood vessels have a tendency to become blocked. In that case, the tissues do not get blood supply anymore, causing serious complications. In some cases, the inflamed blood vessel bursts, causing life-threatening bleeding. This complication is particularly serious if the body’s largest blood vessel, the aorta, is affected. A leak in the aorta is incompatible with life.

What insights into vasculitis have we gotten from research?

My research team has been involved in vasculitis research for the last decade. We have been trying to find answers to the questions most patients ask at one point in the course of their disease:

A. Why did I get this disease?

Vasculitis results from a faulty immune response. Cells of the immune system attack the blood vessel and cause tissue injury. The blood vessel responds to the attack by either closing up or by rupturing. We have been able to identify the immune cells that initiate and sustain vasculitis. Remarkably, cells that induce disease are identical to cells that protect the body. We have also learned that blood vessels have specialized sensor cells in them that keep a dialogue with the immune system and start the inflammation.

B. How can my disease be treated or prevented?

We cannot prevent vasculitis, but since the disease takes a course of flares and remission, we may be able to prevent the next disease flare.

Vasculitis is treated by suppressing the immune system. One of the most effective drugs is cortisone. Some patients need it in large doses and we are very cognizant of side effects.

We have devoted our research effort to develop new means of therapy. To accomplish that goal, we have developed a system in which we can induce vasculitis and then test new therapies. This system involves the transplantation of human blood vessels into mice. If such mice are supplied with immune cells from our patients, vasculitis develops in the engrafted blood vessel. We can treat that inflammation in the mice and can easily take a biopsy from the blood vessel to check what we have achieved and how therapy actually works.

C. How do you know whether my disease is active or not?

This is one of our greatest challenges as we take care of our patients. We cannot just go and take a tissue biopsy of our patients every time they come and see us. We have a research project in place which is aimed at developing biomarkers of vasculitis in a blood sample. We isolate out the immune cells of the patient and, by applying cutting edge technology, we assess these immune cells to get information how likely or unlikely these cells would cause inflammation.

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Autoimmune Disease, Chronic Disease, Dermatology

My two-decade battle with psoriasis

My two-decade battle with psoriasis

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; the latest comes from Alisha Bridges.

Psoriasis has affected every aspect and transition of life that I’ve encountered thus far. I’ve had the itchy, flaky, non-contagious autoimmune disease since I was 7 years old; I’m now 26. As I approach the 20-year anniversary of encountering the disease, I think of how my treatment has evolved, and as I reflect on the differences in treatment between then and now, it’s a Catch-22 in some ways.

It all started after a bad case of chicken pox. My scars weren’t healing correctly. They looked crusty and inflamed. After more than 90 percent of my body remained covered with this mysterious rash, my grandmother decided it was time for me to see the doctor, who diagnosed me with psoriasis. The positive side was that I had Medicaid as insurance, and it covered any and everything I needed. But unfortunately, due to my age, there weren’t many treatment options. From the age of seven to 19, I was prescribed an array of topical treatments and UVA light treatment, none of which were really effective in ridding me of psoriasis. The treatments just kept it at bay.

Once I went to college, treatment became more challenging. First, I went out of state for college, so the only time I could get treatment was when I came home for winter vacation. This particular treatment required me to stay in the hospital for three weeks, which was basically my entire winter break. Once I realized a treatment twice a year wasn’t going to be effective, my family attempted to find me a doctor near my school. The only caveat then was that Medicaid is state-to-state; therefore I was removed from hometown Michigan Medicaid and required to apply for Alabama Medicaid where I attended school. I wasn’t approved for Alabama Medicaid, though, which caused me to go essentially without insurance, aside from the simple coverage the school offered for emergencies.

After a few years of being in school without any insurance, I finally landed a job with coverage and started my routine doctor visits. This time I had more options. As a child I couldn’t consider biologic injections and oral medications, but as a working adult these options became available to me. The flip side was and remains that the medicine is harder to get because of high deductibles and regulations by insurance. I’ve also found that it’s harder to maintain insurance due to life situations such as layoffs or career changes.

There are vast differences between having this disease as a child through adulthood, yet there are a few similarities that I experienced in both phases of life. Doctors have fought to get me treatment no matter what age. As a teenager with severe psoriasis, doctors attempted to get me approved for Enbrel, which has only been authorized for adults over 18. I’ve even had doctors battle the insurance company to gain approval and decrease the cost of various medicines.

Though there have been many things that have changed there is one aspect of psoriasis that is too often neglected. From childhood until now there have been no coping strategies offered to me when dealing with this disease. Out of the approximately ten doctors I’ve seen in regards to my psoriasis, not one inquired on how the condition affected me psychologically. Although this disease appears to be a battle from the outside, the mental anguish faced as a psoriasis patient is life-altering and can even be virtually paralyzing. Patients need to know that there are other people in the world with this disease, and that there are resources outside of medicine to help them cope. Coping strategies are just as important as treatment. Although I have found organizations such as the National Psoriasis Foundation to help manage this disease, it wasn’t because of professional recommendation. I found them on my own at the age of 24.

I can only fathom how having support would have enhanced the overall quality of life for me if a doctor would have made me aware of these organizations at the age of seven. Although I have struggled to find a successful treatment, knowing that there’s support for the mental aspect of psoriasis will give me peace until a cure is found.

Now, psoriasis does not define me - I define it.

Alisha Bridges is the creator of Beingmeinmyownskin.com, where she blogs about life with psoriasis. She’s a community ambassador and volunteer for the National Psoriasis Foundation.

Autoimmune Disease, Research, Sleep, Stanford News

Stanford study sheds light on narcolepsy, “will shape the next decade of research” into the disease

Stanford study sheds light on narcolepsy, "will shape the next decade of research" into the disease

Back in 2009, I wrote about Stanford research indicating that narcolepsy is an autoimmune disease, caused when patients’ immune systems kill the neurons that produce the protein hypocretin. A just-published study confirms that finding while also showing that the condition can sometimes be triggered by a similarity between a region of hypocretin and a portion of a protein from the pandemic H1N1 virus. My colleague Krista Conger explains the detailed science behind the work and summarizes its significance in a release:

The study provides some of the most compelling cellular and molecular evidence to date for a scientific concept known as “molecular mimicry.” Mimicry is the idea that the normal immune response to a pathogen, in this case the pandemic 2009 H1N1 influenza virus, can trigger autoimmunity — when the immune system mistakenly attacks healthy components of the body — because of similarity between a pathogen protein and a human protein.

“The relationship between H1N1 infection, vaccination and narcolepsy gave us some very interesting insight into possible causes of the condition,” said Emmanuel Mignot, MD, PhD, professor of psychiatry and behavioral sciences [and director of the Stanford Center for Sleep Sciences and Medicine. “In particular, it strongly suggested to us that T cells of the immune system primed to attack H1N1 can occasionally also cross-react with hypocretin and somehow cause the destruction of hypocretin-producing neurons.”

The new study suggests new ways to try to intervene before complete destruction of the specialized brain cells. Their loss is the hallmark of the disease and leads to its dramatic symptoms. The study also could pave the way to a new blood test to diagnose narcolepsy. And it sheds light on a previously observed association between a pandemic H1N1 vaccine used in Europe in 2009 and an increase in narcolepsy cases in Scandinavia the subsequent year.

Mignot shares senior authorship of the research with immunology researcher Elizabeth Mellins, MD, who told Conger that the findings “will shape the next decade of research into narcolepsy.” The study appears today in Science Translational Medicine.

Previously: Does influenza trigger narcolepsy?, More clues about narcolepsy and Narcolepsy = autoimmune disease

Autoimmune Disease, Pain, Research

Rheumatoid arthritis patients fare better than 20 years ago, study reports

Some encouraging news about rheumatoid arthritis (RA), a systemic autoimmune disease that causes painful, swollen joints: A new study out of The Netherlands has shown that people recently diagnosed with the disorder have an easier time with daily functioning than patients who were diagnosed 20 years ago, as measured by levels of depressed mood, anxiety and physical disability associated with the condition.

Earlier diagnosis, prescription of physical exercise, and more aggressive drug interventions are responsible for patient improvements, according to the study, which was published in the journal Arthritis Care & Research. From a press release:

For the present study, researchers recruited 1151 with newly diagnosed RA between 1990 and 2011. Participants were 17 to 86 years of age with 68% being female. Each participant was assessed at the time of diagnosis and monitored for the following three to five years.

Findings indicate that after the first four years of treatment 20 years ago, 23% of RA patients reported anxiety, 25% depressed mood, and 53% had physical disability compared to 12%, 14% and 31%, respectively, today. The decrease in physical disability remained significant even after adjusting for reduced disease activity. Results suggest that the downward trend in physical disability, anxiety, and depressed mood may be due in part to reduced disease activity.

“Our study determined that currently, 1 out of 4 newly diagnosed RA patients are disabled after the first four years of treatment; while 20 years ago, that figure was higher at 2 out of 4 patients,” concludes [Cécile L. Overman, a Ph.D. Candidate with the Department of Clinical and Health Psychology, Utrecht University]. “Today, RA patients have a better opportunity of living a valued life than patients diagnosed with this autoimmune disease two decades ago.”

Previously: Important metabolic defect identified in immune cells of rheumatoid arthritis patientsMany lupus patients on Medicaid fail to take medication as prescribed, study shows and Collaboration between Stanford and UCSF aims to advance arthritis research

Autoimmune Disease, In the News, Nutrition, Stanford News

“Sodium Girl” on living with a salt-free diet

"Sodium Girl" on living with a salt-free diet

The writer Jessica Goldman Foung blogs about healthy recipes for a no-salt diet. She’s the author of a cookbook, “Sodium Girl’s Limitless Low-Sodium Cookbook,” and she recently taught a course on Writing Through Illness for Stanford’s Continuing Studies program. Her experience with the autoimmune disease lupus, which has attacked her kidneys and brain and caused her to undergo dialysis and manage seizures, among other challenges, led to an investigation on healthy eating that she shares with her readers.

Goldman Foung discussed her journey with food and illness with us in an earlier Scope Q&A. Now, a Stanford Magazine piece reports on her current bill of health – and continuing healthy attitude:

This January marks 10 years since Foung’s diagnosis. Dialysis and the transplant list are behind her. Though she jokes that her doctors call her “one of the healthiest unhealthy people they know,” she lives with joint pain, chronic fatigue and a weak immune system and must weigh every activity and invitation against its cost to her energy reserves. “I try to balance the ambition and stubbornness. I think that’s why I survived in the first place.”

Previously: Food blogger Jessica Goldman discusses turning dietary restrictions into a culinary adventure

Autoimmune Disease, Health Disparities, Research, Women's Health

Many lupus patients on Medicaid fail to take medication as prescribed, study shows

Many lupus patients on Medicaid fail to take medication as prescribed, study shows

pillsA study of medication compliance in people who have lupus has found that poorer patients on Medicaid were often not taking medications as prescribed. Lupus is a serious autoimmune disease in which the body attacks its own tissue as if it were a foreign invader. It affects more women than men, and women of color are two to three times as likely to have lupus as are Caucasian women. Immune suppressors and other drugs are often prescribed to prevent organ damage and to manage symptoms, which include fatigue, pain and joint inflammation.

HealthDay News reports on the recent study:

“It’s alarming,” said lead researcher [Jinoos Yazdany, MD, MPH,]  of the University of California, San Francisco. “These medications have a proven track record of improving patients’ outcomes.”

The study used pharmacy claims data, so it’s not possible to say why people were not taking their medication as prescribed, Yazdany said.

But money could be one factor. Medicaid covers the drugs, Yazdany noted, but even a small co-pay could be a barrier for low-income patients.

Drug side effects could be another issue, Yazdany said, as could a lack of education about the medications. “Some people may not be fully aware of the benefits of these drugs,” she said.

The findings, which were presented on Saturday at the American College of Rheumatology‘s annual meeting in San Diego, were drawn from a study of 23,187 Medicaid patients who were prescribed one or more medications for lupus. As outlined in the article, during the six-month study period patients “picked up enough medication to cover only 31 percent to 57 percent of the days.”

Previously: Rheumatoid arthritis patients not getting necessary medication, Research shows why lupus may be more common in black, Asian people and Consumers’ behavior responsible for $163 billion in wasteful pharmacy-related costs
Photo by rockbadger

Autoimmune Disease, Chronic Disease, Genetics, Immunology, Research, Stanford News

Found: Potential new way to predict some multiple-sclerosis patients’ disease course, drug response

Found: Potential new way to predict some multiple-sclerosis patients’ disease course, drug response

I See Nothing“I have multiple sclerosis. Will I become crippled in the future? Or is it going to be the ‘mild’ form? Of the dozen medications out there to treat MS, which one is the best therapy for me?”

Stanford neurologist May Han, MD, who specializes in MS, encounters questions like these from her patients on a daily basis. MS is an autoimmune disease of the brain and spinal cord that causes paralysis, blindness and other disabling symptoms. Over a million people, most of them young adults in the prime of life, suffer from MS worldwide.

While there’s currently no cure for MS, by the end of 2013 there will be 10 FDA-approved MS therapies. The wealth of choices creates a daunting task for physicians: How can they pick the most appropriate therapy for MS patients?

Despite these therapies’ overall efficacy in preventing MS attacks, any one of them can simply fail to work in a particular patient, or cause debilitating and, sometimes, fatal side effects. Right now, physicians lack tools to predict who would respond well to a specific therapy. That’s largely because, Han told me, different patterns of immune mechanisms go awry in different patients:

Despite great strides in MS research over the past 50 years, these differences in immune response from one patient to the next remain poorly understood. As a result, MS still is a disease where the term “only time will tell” perfectly applies. We do not have methods that allow us to predict responses to a selected therapy.

But Han and her colleagues have achieved an important step toward the goal of finding ways to do just that, as reported in a new study in Nature Immunology. Using cutting edge technology to analyze autopsy samples from MS patients, the study authors (including Stanford geneticist Michael Snyder, PhD) identified more than 2,000 proteins that were activated in MS lesions. One of those proteins, sphingosine-1-phosphate receptor 1, was activated only in the MS brain samples, suggesting its importance in MS pathogenesis.

In fact, Gilenya, the first oral medication ever approved for MS, targets that very receptor. Gilenya wards off MS attacks by preventing immune cells from leaving the spleen and lymph nodes. But some patients on the drug, paradoxically, develop worsening MS attacks.

In a mouse version of MS, the authors discovered that certain mutations in the gene coding for the receptor lead to a worsening of MS symptoms. The new findings raise the possibility that these mutations’ presence might contribute to patients’ lack of response to therapy when they’re given drugs such as Gilenya.

Developing a diagnostic test to spot the identified gene mutations might help to predict, for those patients who have them, the course of their disease and response to therapy.

Previously: Two different types of MS, one big step toward personalized medicine, Stanford neuroimmunologist discusses recent advances in MS research and Tool could help predict onset of disability for patients with progressive MS
Photo by garryknight

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