Published by
Stanford Medicine

Category

Chronic Disease

Autoimmune Disease, Chronic Disease, Clinical Trials, Patient Care

Two decades with scleroderma: How I find answers to hard-to-solve questions

The day I was diagnosed with scleroderma 21 years ago was devastating for my parents and me, to say the least. I was 15 years old and I remember thinking: I have what? Scleroderma? What is that? Can you spell that?

Not much was known about the disease and, since the Internet was in its infancy, we couldn’t simply Google “scleroderma” to learn more about it or find support groups. There was no one to bounce off ideas with. My father, who was a diligent researcher, consulted medical textbooks. Meanwhile, my mother, who was born with the “gift of gab,” sought information from anyone and everyone who crossed her path. But ultimately we were forced to rely heavily on doctors’ recommendations, which sadly were pretty gloomy and a bit much for a teenager to handle.

Fast forward to today. When I have a question, I connect with my local chapter of the Scleroderma Foundation, either by e-mailing a board member or by attending a support group meeting. I also go online to the Raynauds Association, Scleroderma Foundation and Pulmonary Hypertension Association. Above all it’s important to find a rheumatologist who is not only knowledgeable about scleroderma, but has a good grasp of its complexities and is willing to help you get the results you need. Trust me – they are out there!

Back in 2004, I decided it was time to get a new rheumatologist. I asked around for recommendations from my personal network and a friend with rheumatoid arthritis suggested I see her physician. Before meeting the doctor, I looked at his online reviews from other patients and his curriculum vitae to get a sense of his academic and professional experience and achievements. When meeting with a new physician, it’s important to ask if she/he has treated other scleroderma patients, gauge their knowledge of clinical trials, find out if they are up to date on the medications being used to treat the different facets of the disease, and make sure they understand the importance of certain annual tests.

When I switched rheumatologists, I had a particular problem I needed to solve. For the most part my illness had become stable, but I had one pesky ulcer that was truly relentless! I tried various calcium channel blockers, ACE Inhibitors, and Vasodilators, and nothing worked. The infections were getting out of control, even though I did my best to stay on top of it. My frustration reached a point where I asked my doctor to “please, remove the first flange of my index finger.” Thankfully he refused and said, “No, we’re not going to give up.”

Continue Reading »

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.

Continue Reading »

Ask Stanford Med, Chronic Disease, Clinical Trials, Patient Care

Ask Stanford Med: A focus on scleroderma

Ask Stanford Med: A focus on scleroderma

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.”

Continue Reading »

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

Chronic Disease, Patient Care

A year’s summary of patient insights from Inspire contributors

Year Two of our partnership with Inspire, a company that builds and manages online support communities for patients and their caregivers, has continued to bring a patient viewpoint piece to Scope readers each month. We’re grateful for all the insights shared, and we hope you’ll check out Inspire’s just-published compilation of this year’s stories, titled Experts by Experience.

As Patricia Salber, MD, writes on The Doctor Weighs In:

The patients’ stories offer clinician readers an opportunity to learn what it is like to be on the other side of the stethoscope – and it isn’t always pretty. Some of the stories made me shudder as I recalled being a perpetrator of some of the bad behaviors described in the document.

These patients’ stories are much more recent than mine, but still they contain examples of communication failures…

She continues:

But what I love about this compilation is that there are also stories about doctors doing it right:

The patient who was told he only had two years to live talked to another doctor who told him instead, “Yes, you can beat this. We are treating to cure!”…

Take a look and see what inspires you.

Previously: Experts by experience: A year’s worth of patient stories

Chronic Disease, Health Disparities, Health Policy, Patient Care, Research, Stanford News

Study shows higher Medicaid coverage leads to lower kidney failure rates

Study shows higher Medicaid coverage leads to lower kidney failure rates

Years ago, nephrologist Manjula Tamara, MD, treated a 23-year-old uninsured patient whose kidneys were failing. The patient’s medical options, at that point, were life-long dialysis or a hoped-for kidney transplant – bleak options for such a young person, and ones that adequate preventive care could have been avoided.

That memory, along with the federal government’s recent expansion of Medicaid spurred Tamura as a scientific researcher to pose the question: Does expanded Medicaid coverage translate into better care for low-income patients with chronic diseases, such as kidney disease?

According to the Stanford study published today in the Journal of the American Society of Nephrology, the answer is yes. Using data from national registries, Tamura, who is lead author of the research, and colleagues collected data on the more than 400,000 American adults who developed end-stage renal disease (or ESRD) between 2001 and 2008. As I explained in a release:

Medicaid coverage during those years among low-income, nonelderly adults ranged from 12.2 to 66 percent, depending on the state, with California averaging between 30 and 35 percent. For each additional 10 percent of the low-income, nonelderly population covered by Medicaid, the study found there was a 1.8 percent decrease in ESRD incidence.

The study is particularly timely because states are in the process of deciding whether to adopt the recent changes to Medicaid, which came with the passage of the Affordable Care Act. So far, only about half of the states have. The study discusses these recent changes and what the expansion in Medicaid coverage could mean to low-income Americans with kidney disease, along with patients with other chronic diseases:

Before the Affordable Care Act, only low-income Americans who were pregnant, had a disability or were parents of minors could receive Medicaid coverage if they met their state’s income eligibility levels. States now have the option to increase Medicaid coverage to all adults under the age of 65 with incomes below 133 percent of the poverty level regardless of whether they are pregnant, disabled or parents of minors.

“The care of patients approaching kidney failure or end-stage renal disease is a useful model to study the potential effects of Medicaid expansion on chronic disease care because ESRD care is costly and the quality of pre-ESRD care is tracked nationally,” Tamura said.

What the study did not look at was whether this expansion could ultimately result in financial savings. In the United States, 75 percent of health care dollars goes into the treatment of chronic diseases and these conditions – which include heart disease, diabetes, hypertension, and kidney disease – are all on the rise. In an interview, Tamura suggested that future research on this topic is needed.

Previously: Study shows higher rates of untreated kidney failure among older adults and Geography may determine kidney failure treatment level

Cardiovascular Medicine, Chronic Disease, Stanford News

Born with high cholesterol

high cholesterol illustrationOn a Friday morning last October, I drove to the East Bay to meet with a fellow who I had been told had quite a story to tell. I met Scott Radabaugh in a coffee shop in San Ramon – a tall, dark-haired man with a weightlifter’s physique and an eagerness to unburden himself of the many troubles he’d suffered as a result of his genetic predisposition to high cholesterol. This was no garden-variety high cholesterol, but the kind of numbers that put people at serious risk of heart attack at a relatively young age.

We talked for more than 2 ½ hours as Radabaugh, 46, detailed his surgeries – his quadruple bypass and the surgery to clear a clogged vessel in his neck – as well as his ongoing anxiety about when the next heart event might strike.

“I’m on hyper alert,” he told me for a story that appears in Stanford Medicine magazine’s new issue. “Once I have chest pains, it may be time…What’s scary is that I don’t go anywhere without nitroglycerin or aspirin [to help defuse a blood clot or heart attack]. I think about my own mortality many times a day.”

Radabaugh had learned just three years ago that he had inherited a gene for high cholesterol, a condition known as familial hypercholesterolemia (FH). People with FH are born with high cholesterol – yes, babies can suffer from high cholesterol. And the harmful substance begins building up in the arteries from that time forward.

Unfortunately, Radabaugh had passed the gene on to his three children, and he felt some guilt in that. All of the children, as well as Radabaugh himself, are taking medication to help prevent heart problems and are careful in their eating habits. The disease, I learned, is relatively common in the U.S. population, though few people are aware it. As an advocate with the FH Foundation, a nonprofit patient organization, Radabaugh is hoping to change that – and to help others avoid some of the heartache he’s experienced himself.

Previously: Mysteries of the heart: Stanford Medicine magazine answers cardiovascular questions and Hope for patients with familial hypercholesterolemia
Illustration, which originally appeared in Stanford Medicine magazine, by Lincoln Agnew

Cardiovascular Medicine, Chronic Disease, Genetics, Research, Stanford News

Damage to dead cell disposal system may increase heart disease

Damage to dead cell disposal system may increase heart disease

garbage cansThink of it like taking out the garbage.

That’s the way Stanford researcher Nicholas Leeper, MD, explained to me the findings of his recently published study.

Actually, it’s more helpful to think of the study’s discoveries on the genetics of heart disease as something of a garbage strike – at the molecular level.

Due to a genetic defect, the body’s ability to dispose of its daily tonnage of dead cells gets damaged, and as a result the body’s garbage - in the form of old cells and debris - starts to build up in the walls of its blood vessels. Normally, the body is extremely efficient at taking out the garbage. Two hundred billion cells die every day in our bodies and most get cleared out within a matter of seconds. But when this process breaks down and garbage in the form of necrotic cells starts building up in the walls of blood vessels, it’s not a good thing.

Leeper, a physician and assistant professor of vascular surgery, and colleagues Yoko Kojima, MD, Tom Quertermous, MD, and others set out to discover why genetic variation at the chromosome 9p21 location has been repeatedly identified as the most important commonly inherited DNA sequence for a wide range of cardiovascular diseases including stroke, heart attacks and aneurysms.

Conducting studies in mice with atherosclerosis, the researchers showed that loss of a candidate gene at this locus leads to impaired “efferocytosis” - from the Latin for “take to the grave” – the process by which dead or necrotic cells are removed. Literally, the burying of dead cells. Mice with this genetic variation showed an increase in buildup of these dead cells, further advancing their atherosclerosis as opposed to those that did not have the genetic variation.

In other words, a commonly inherited genetic variant, which is found in 20 percent of the population, contributes to the development of coronary artery disease (also known as coronary atherosclerosis) by stimulating the accumulation of necrotic debris within the evolving plaque. Coronary atherosclerosis is the process by which plaque builds up in the wall of heart vessels, eventually leading to chest pain and potentially lethal heart attacks. Leeper explained it to me further:

If you were born with genetic variation at the 9p21 locus, your risk of heart disease is elevated, though we haven’t understood why. This research gets at that hidden risk. You can be a non-smoker, be thin, have low blood pressure, and still be at risk for a heart attack if you were born with this variant. This work may help explain that inherited risk factor, and more importantly help develop a new therapy to prevent the heritable component of cardiovascular disease.

Photo by shooting brooklyn

Chronic Disease, Research, Stanford News

New Stanford-developed sweat test may aid in development of cystic fibrosis treatments

New Stanford-developed sweat test may aid in development of cystic fibrosis treatments

13495-cftest_newsWorldwide 70,000 children and adults, including 30,000 in the United States, are living with cystic fibrosis, a recessive genetic disorder that affects the lungs and digestive system. Among them is the 32-year-old daughter of Jeffrey Wine, PhD, director of Stanford’s Cystic Fibrosis Research Laboratory.

Wine has firsthand knowledge about the cost of the disease and how conventional treatment approaches focus on addressing symptoms as they appear. He also understands how few drugs tackle the underlying problem of the disease, which is that a key protein known as cystic fibrosis transmembrane conductance regulator (CFTR) is broken, damaged or missing.

CFTR is responsible for transferring fluid and minerals in and out of cells, and defects among patients diagnosed with cystic fibrosis can vary greatly. A Stanford Report story published today explains how current tests fall short of precisely determining how much functioning CFTR is present and how Wine and colleagues developed a new sweat test that produces more detailed information than before. Becky Bach writes:

The new test determines the ratio between two types of sweat in each individual by using dyes to form bubbles on the skin. That ratio accounts for differences in sweat volume – between a conditioned athlete and a sedentary person, for example – and reveals an individual’s CFTR levels.

Wine’s work showed that even healthy people have varying levels of CFTR and that only a small amount of CFTR is needed to remain disease-free. “The biggest surprise for me was how small the response was. I don’t think anybody expected that,” Wine said.

Therefore, drug developers have a lower target: they only need to restore 10 percent of CFTR functionality to relieve symptoms. Also, patients can be treated with drugs that supplement their personal CFTR levels to relieve symptoms. That is particularly important because people with the same genetic flaw can have different amounts of CFTR, Wine said.

Previously: Film about twin sisters’ double lung transplants and battle against cystic fibrosis available online, Diverse microbes discovered in healthy lungs shed new light on cystic fibrosis and Living – and thriving – with cystic fibrosis
Photo by Kozorez Vladislav/Shutterstock

Stanford Medicine Resources: