Patient Care

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.”

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Cancer. It’s been called “The Big C,” but the more we study it, the more it resembles hundreds of little c’s, each with its own unique molecular makeup. The differentiation exists both among patients with cancers in the same site (the various sub-types of breast cancer, for example) as well as within a single patient. This latter phenomenon is referred to as “intra-patient tumor heterogeneity,” and it has profound implications for the future of cancer treatment, including the viability of so-called “targeted therapies” receiving so much attention and hope.

Many cancer tumors tend to be chaotic mixes of different cell types, some more aggressive – and therefore more dangerous – than others. Chemotherapy and the emerging category of more specific “targeted therapeutics” work by acting on a known characteristic of a particular cancer cell type, like accelerated replication rates or a specific genetic mutation.  But in a complex tumor, not all cells will exhibit that specific characteristic, or at least not do so at the same time. Also, it is possible for cancer cells to adapt and become resistant to a particular therapy, in a partially analogous way in which evolution works on a macroscopic scale.

A recent opinion piece published online in the journal The Scientist points out that intra-patient heterogeneity can also involve treatment-relevant difference between the primary tumor and metastases, as well as among metastases. Written by Stanford Cancer Institute Director Beverly Mitchell, MD; David Rubenson, associate director for administration and strategic planning; and Daniel S. Kapp, MD, professor emeritus of radiation oncology at Stanford, the article discusses these matters in detail and lays out many of the significant scientific and clinical questions surrounding the potential for treating cancers with targeted therapies. This fall, the Stanford Cancer Institute will convene an international symposium to discuss these questions and a range of related issues.

Information on the symposium, titled “Intra-patient Tumor Heterogeneity: Implications for Targeted Therapy,” will soon be available on the Stanford Cancer Institute website.

Previously: Director of the Stanford Cancer Institute discusses advances in cancer care and research

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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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.

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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.”

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In this new Stanford Medicine video, patient Laura Koellstad tells the story of how her life changed with her first seizure and a diagnosis of intractible epilepsy, and then turned around following treatment at Stanford. Josef Parvizi, MD, PhD, associate professor of neurology and neurological sciences, and Robert Fisher, MD, PhD, director of the Stanford Comprehensive Epilepsy Program, explain the functional mapping and surgical procedures used to treat Koellstad’s condition, allowing her to return to work and regain her ability to drive.

Previously: The brain whisperer: Stanford neurologist talks about his work, shares tips with aspiring doctors, How epilepsy patients are teaching Stanford scientists more about the brain and Implanting electrodes to treat epilepsy, better understand the brain

Blood is a remarkable liquid. Not only does it carry red blood cells to deliver oxygen, it also transports cells of the immune system to protect us from infection. But there’s another, hidden payload: bits of genetic material derived from dying cells throughout the body. In a patient with cancer, a tiny fraction of this circulating DNA comes from tumor cells.

Now researchers in the laboratories of Stanford radiation oncologist Maximilian Diehn, MD, PhD, and hematologist and oncologist Ash Alizadeh, MD, PhD, have found a way to read these genetic messages and use them to diagnose lung tumors and monitor how they respond (or don’t) to treatment. The technique is highly sensitive and should be broadly applicable to many types of solid tumors. It also bypasses some of the more fussy patient-optimization steps that have previously been required.

From our release:

“We set out to develop a method that overcomes two major hurdles in the circulating tumor DNA field,” said [Diehn]. “First, the technique needs to be very sensitive to detect the very small amounts of tumor DNA present in the blood. Second, to be clinically useful it’s necessary to have a test that works off the shelf for the majority of patients with a given cancer.”

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“We’re trying to develop a general method to detect and measure disease burden,” said Alizadeh, a hematologist and oncologist. “Blood cancers like leukemias can be easier to monitor than solid tumors through ease of access to the blood. By developing a general method for monitoring circulating tumor DNA, we’re in effect trying to transform solid tumors into liquid tumors that can be detected and tracked more easily.”

Using their technique, the researchers were able to identify 50 percent of patients with Stage I cancers, and all patients with more advanced disease. The research was published Sunday in Nature Medicine.

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Organ transplant has been a life-saving option for decades now, but its science is still evolving. One of the most pressing questions is why some people with transplants surpass the standard expectations. I recently spoke with David Weill, MD, director of Stanford’s Center for Advanced Lung Disease, and Bruce Reitz, MD, the Stanford physician who performed the first successful adult heart-lung transplant in 1981, about one patient who has definitely exceeded expectations.

Steve Rasmussen was a 28-year-old Santa Cruz resident when cystic fibrosis finally claimed his lungs in 1988. The best solution then was a heart-lung transplant. Twenty-six years later, Rasmussen is now celebrating the 25th anniversary of his transplant – and his remarkable record of transplant longevity. (Earlier this year, Stanford’s lung transplant program hit a milestone of its own, marking its 500^th adult transplant.)

As I wrote in my article about why Rasmussen has survived so long:

Reitz knows that Rasmussen’s transplant longevity is unusual. He thinks that it might be related to some kind of difference in Rasmussen’ immune system. Another possibility is the combination of a particular donor and a particular recipient. “Frankly, we don’t have any real clue what it is about the long-term survivors that has given them this tremendous gift,” Reitz said.

There’s more in the video above.

Previously: Life-threatening diagnosis leads to powerful friendship for two California teens, A story from the edge of medical possibility: Operatic soprano sings after double lung transplant and Celebrating the 30-year anniversary of the world’s first lung-heart transplant

Last September, Scope/Inspire contributor Jessica Rice wrote about her experience being diagnosed with terminal lung cancer; as a follow-up to Rice’s piece, one of our physicians shared her thoughts on communicating with seriously ill patients. Rice, who also chronicled her journey on http://stageiv.wordpress.com, passed away last Friday. We’re re-publishing this entry in her memory.

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Since becoming ill, I’ve learned that I have the innate ability to make doctors very uncomfortable – squirmy, even. It’s surprising because I had assumed medical professionals with decades of experience have fielded every possible question a patient might ask.

But I suppose I’m not a typical patient. In November 2011, I was diagnosed with stage IV lung cancer (bronchioloalveolar carcinoma, a subset of adenocarcinoma) with extensive spread to the mediastinal and hilar lymph nodes. At the ripe old age of 30, I joined a very exclusive club of young, non-smoking women with this rare cancer.

What I’m discussing with these doctors is no picnic. While there’s a sprinkling of terminally ill 30-somethings out there, we’re not a common sight in most oncology offices.

My biopsies were immediately tested for genetic mutation and found to be ALK+. Crizotinib had received FDA approval a few months earlier, so it was the logical first course of action. The pill was successful for three months before two things happened: toxicity set in, and my cancer grew resistant. Next, I tried two different chemo cocktails; both failed. I joined the LDK378 trial in November 2012 and had an excellent response. Unfortunately I experienced very painful side effects which led to dose reductions below protocol. I was likely getting booted from the trial and taking a break when I had a seizure this past June.

My MRI showed five brain tumors, along with small lesions I affectionately termed “brain lint.” After two CyberKnife sessions, a few tumors shrank, a couple grew, and five more sprouted from that innocent looking brain lint. It was time for whole brain radiation.

Through all this I’ve worked with more than a half-dozen doctors and surgeons. Some have impressed me, a couple seemed lacking in one area or another, and one even managed to capture my heart. Regardless, I’ve unintentionally made all of them uncomfortable at one time or another.

It could be my tough questions.

I consider myself a down-to-earth, logical creature; looking at the facts and hearing the truth is strangely comforting to me. This is why I recently asked, “What will dying be like if it’s the brain tumors that kill me? Will it be sudden, like a seizure with an uncontrollable brain bleed?” I had asked this question long ago in relation to lung cancer, but it now seems more likely that the brain tumors will lead to my demise.

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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.

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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:

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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

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