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Chronic Disease

Cardiovascular Medicine, Chronic Disease, Patient Care, Women's Health

Welcome to your new country: A heart patient on her “travels” with heart disease

Welcome to your new country: A heart patient on her "travels" with heart disease

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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; this month’s column comes from heart patient Carolyn Thomas

My doctor once compared my uneasy adjustment to life as a heart patient with being like a stressful move to a foreign country.

I used to be pretty comfortable living in my old country, pre-heart attack. I had a wonderful family and close friends, a public relations career I loved, a nice home – and a busy, happy, healthy, regular life.

Then on May 6, 2008, I was hospitalized with what doctors call a “widowmaker” heart attack.

And that was the day I moved far, far away to a different country.

Many who are freshly diagnosed with a chronic and progressive illness feel like this. The late Jessie Gruman, PhD, who spent decades as a patient, described in a Be a Prepared Patient Forum column that sense of being drop-kicked into a foreign country: “I don’t know the language, the culture is unfamiliar, I have no idea what is expected of me, I have no map, and I desperately want to find my way home.”

Deported to the foreign country called Heart Disease, I too found that nothing around me felt familiar or normal anymore once I was home from hospital.

I felt exhausted and anxious at the same time, convinced by ongoing chest pain, shortness of breath and crushing fatigue that a second heart attack was imminent. I felt a cold, low-grade terror on a daily basis.

Instead of feeling happy and grateful because I had survived what many do not, I frightened myself by weeping openly over nothing in particular. I slept in my clothes. I didn’t care how I looked or how I smelled. I had no interest in reading, walking, talking, showering or even getting out of bed. Everything seemed like just way too much trouble.

Where once I had been competent, I now felt unsure.

Where once I had made decisions with sure-footed speed, I now seemed incapable of deciding anything.

And my worried family and friends couldn’t even begin to comprehend what was going on for me – because I could scarcely understand it myself. Sensing their distress, I tried to paste on my bravest smiley face around them so we could all pretend that everything was normal again. But making even minimal conversation felt so exhausting that it eventually seemed so much easier to just avoid others entirely.

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Chronic Disease, Clinical Trials, Genetics, Patient Care, Pediatrics, Stanford News

Cystic fibrosis patient on her 20+ years of care

Cystic fibrosis patient on her 20+ years of care

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When Lauren Catron was first diagnosed with a severe form cystic fibrosis, an inherited disease that makes mucous and sweat glands go haywire, her doctors were unsure that she’d live to be a teenager. That was nearly 23 years ago. Now, 26-year-old Catron is a full-time college student at Mission College in Santa Clara, Calif. with enough energy to work a job in her spare time.

Catron credits her sustained health to the more than two decades of care she’s received at the Pulmonary and Cystic Fibrosis Center at Lucile Packard Children’s Hospital. Catron shares her story on the Happier, Healthier Lives Blog:

“When I was first diagnosed in 1992, the doctors told my parents that I may not make it to my teens,” said Catron, who has the genotype associated with a shorter lifespan and the most severe symptoms of cystic fibrosis, including a constant buildup of mucus in her lungs that interferes with breathing. “But a whole team of people at Stanford has dedicated themselves to keeping me healthy. They have given me absolute unconditional support, amazing treatment and care, and have become my second family.”

Carol Conrad, MD, director of the pediatric pulmonary function lab, explains that the center’s expert care stems from the many clinical trials and studies they do to advance the treatment of cystic fibrosis. “No other CF center in California is doing these kinds of clinical trials,” Conrad said.

This research, which ranges from dietary-supplement studies by Conrad to gene therapy work done by Richard Moss, MD, shows promise. Moss and his colleagues were the first to discover that gene therapy could improve pulmonary function in cystic fibrosis patients – an important finding that may lead to a treatment for the disease in the future. “As depressing as the disease can be, there’s a lot of hope. That’s what keeps us motivated,” said Conrad.

Previously: New Stanford-developed sweat test may aid in development of cystic fibrosis treatmentsFilm about twin sisters’ double lung transplants and battle against cystic fibrosis available onlineDiverse microbes discovered in healthy lungs shed new light on cystic fibrosis and Living – and thriving – with cystic fibrosis
Photo of Conrad (left) and Catron courtesy of Lucile Packard Children’s Hospital

Aging, Chronic Disease, Events, Health Policy, Neuroscience, Public Health, Women's Health

Alzheimer’s forum with Rep. Jackie Speier spurs conversation, activism

Alzheimer's forum with Rep. Jackie Speier spurs conversation, activism

10776927963_3dd8d244da_zWhat happens when you bring together a woman with Alzheimer’s, a congresswoman, a policy expert and two doctors? No, this isn’t a joke – but an intro to an informative and wide-ranging discussion on Alzheimer’s disease and its effects on women.

“I was pretty ignorant until fairly recently,” said Rep. Jackie Speier (D-CA), who organized the forum Alzheimer’s: A women’s health issue held in San Mateo, Calif. yesterday. She also penned an opinion piece published recently in the San Francisco Chronicle. “I had no idea that two out of three people diagnosed with Alzheimer’s are women.”

Although it’s the fifth leading cause of death in California, Alzheimer’s receives much less federal money than many other major diseases, she said.

To spur conversation and provide information, Speier invited Cynthia Ortiz Guzman, a former nurse who suffers from Alzheimer’s; Ruth Gay, director of public policy and advocacy for the Alzheimer’s Association; Elizabeth Landsverk, MD, medical director of ElderConsult, and Stanford’s Michael Greicius, MD, MPH, an associate professor of neurology and neurology and medical director of the Stanford Center for Memory Disorders. Greicius has done research on women’s risk of the disease.

Nearly all of the 150-plus people who attended the forum had a loved one who suffered from Alzheimer’s. “We still have a good life, but there is so much that needs to be done,” Guzman told them.

Greicius and Landsverk fielded questions about how to diagnose and treat Alzheimer’s as well as promising directions of research.

At Stanford, Greicius said a person with memory impairment would meet with a neurologist, take a several hour neuropsychological exam, have bloods tests and a brain scan, and meet with social workers and nurses. He emphasized that this is far above the level of care available in more community medical centers. Sometimes physicians are able to find biomarkers that signal Alzheimer’s presence more than a decade before symptoms appear he said.

Greicius urged attendees to find out if they’re eligible for a neurological research trial at Stanford and to consider donating their brains and the brains of their loved ones to use for research. He also thanked Speier for focusing attention on Alzheimer’s.

“We’ve got to get the attention of policymakers to address this issue,” Speier said, adding that she might try to secure federal funds as part of the defense budget.

Gay, who recently traveled to Washington, D.C. to advocate for the disease, agreed. “We know that today we need a game changer – we need people to step forward and speak out about this disease,” she said.

Previously: Science Friday explores women’s heightened risk for Alzheimer’s, The state of Alzheimer’s research: A conversation with Stanford neurologist Michael Greicius and The toll of Alzheimer’s on caretakers 
Photo by Marjan Lazarevski

Chronic Disease, In the News, Patient Care, Public Health

Physicians advocate for “more educated and deliberative decision making” about dialysis

Physicians advocate for "more educated and deliberative decision making" about dialysis

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More than 20 million Americans, one in 10 adults, have some form of chronic kidney disease. For those suffering from chronic kidney disease or end-stage renal disease, dialysis is a commonly recommended treatment. But a story published today in the New York Times reports that for older patients the treatment is increasingly being seen as an choice, not an imperative, and “a growing number of nephrologists and researchers are pushing for more educated and deliberative decision making when seniors contemplate dialysis.”

Paula Span writes:

Unquestionably, dialysis has helped save lives. The mortality rate for patients with chronic kidney disease decreased 42 percent from 1995 to 2012, according to the most recent report from the United States Renal Data System.

The picture for older patients, in particular, is less rosy. About 40 percent of patients over age 75 with end-stage renal disease, or advanced kidney failure, die within a year, and only 19 percent survive beyond four years, the renal data system has reported.

In a Canadian survey, 61 percent of patients said they regretted starting dialysis, a decision they attributed to physicians’ and families’ wishes more than their own. In an Australian study, 105 patients approaching end-stage kidney disease said they would willingly forgo seven months of life expectancy to reduce their number of dialysis visits. They would swap 15 months for greater freedom to travel.

In real-world hospitals and nephrologists’ offices, of course, patients aren’t offered such trade-offs. “People drift into these decisions because they’re presented as the only recourse,” said Dr. V. J. Periyakoil, a geriatrician and palliative care physician at Stanford University School of Medicine.

The moving video above, which was produced by Periyakoil, tells the story of one older man’s decision to stop dialysis after 12 years. (“It takes a lot out of you – it’s a long drawn-process,” Christopher Whitney explained in the piece. “If I would get a kidney now, it would be a waste… I’m not the person I used to be.”) About the difficult decision-making process that faces patients like Whitney, Periyakoil said in an email this morning:

Persons with kidney failure often struggle with making decisions related to dialysis. These decisions impact not only the patient but also their family members. For some, these decisions have ethical and moral implications as well. You may have questions like “Should I start dialysis right away or can I wait? Is it okay to refuse dialysis? I have been on dialysis and feel tired all the time and have poor quality of life – is it okay to stop dialysis? If I stop dialysis how long will live?”

Periyakoil urges patients to “think about what your life goals are as well as what matters most to you at life’s end. Be sure to discuss these important issues with your doctor so you can make your wishes known and make decisions that are right for you and your family.”

Previously: How best to treat dialysis patients with heart disease, Keeping kidney failure patients out of the hospital, Study shows higher Medicaid coverage leads to lower kidney failure rates and Benefits of dialysis for frail elderly debated

Cardiovascular Medicine, Chronic Disease, Genetics, Public Health, Research

International team led by Stanford researchers identifies gene linked to insulin resistance

International team led by Stanford researchers identifies gene linked to insulin resistance

261445720_2f253a1336_zBack in the 1970s and 1980s, Stanford’s Gerald Reaven, MD, had the darndest time convincing others that type 2 diabetes wasn’t caused by a lack of insulin. No one would believe him that, as we now know, type 2 diabetics are insulin resistant — their cells no longer respond to insulin’s cue to take in glucose.

Fast-forward a few years. Insulin resistance has been implicated in a slew of symptoms such as high blood pressure and heart troubles known as metabolic syndrome — it isn’t just a problem for diabetes. Scientists knew that about half of insulin resistance was governed by weight, exercise and diet. But the heredity half was a mystery — until now.

Thanks to an international collaboration and many months of work, a team of researchers led by Joshua Knowles, MD, PhD, and Thomas Quertermous, MD, have found the first gene known to contribute to insulin resistance. It’s called NAT2, and when mutated, it leads to a greater chance for carriers to become insulin resistant.

From the release:

“It’s still early days,” Knowles said. “We’re just scratching the surface with the handful of variants that are related to insulin resistance that have been found.”

Researchers found NAT2 by compiling data from about 5,600 individuals for whom they had both genetic information and a direct test of insulin sensitivity. Measuring insulin sensitivity takes several hours and is usually done in research settings. No genes met the high standards demanded by genome-wide association studies. Yet NAT2 appeared promising, so researchers followed up with experiments using mice.

When they knocked out the analogous gene in mice, the mice’s cells took up less glucose in response to insulin. These mice also had higher fasting-glucose, insulin and triglyceride levels.

“Our goal was to try to get a better understanding of the foundation of insulin resistance,” Knowlessaid. “Ultimately, we hope this effort will lead to new drugs, new therapies and new diagnostic tests.”

Previously: New insulin-decreasing hormone discovered, named for goddess of starvation, Stanford researchers identify a new pathway governing growth of insulin-producing cells and Faulty fat cells may help explain how type 2 diabetes begins
Image by Andy Leppard

Chronic Disease, Health Policy, In the News, Medicine and Society, Medicine X

Patients with “invisible illnesses” speak out about challenges in their communities and workplaces

3477601702_765d0c9504_zWhat does a patient with chronic disease look like? Sometimes they look like everyone else, as many diagnosed with “invisible illnesses” are pointing out. In a recent NPR story, Carly Medosch, a former ePatient scholar at Stanford’s Medicine X, speaks about discrimination in the workplace for those whose health challenges are not immediately obvious. Medosch has been living with Crohn’s disease for 20 years and fibromyalgia for one year.

From NPR’s write-up:

For Medosch and others who struggle with an invisible disability, occasional hospital stays and surgeries are not the hard part. Mundane, everyday activities can be more difficult… Walking to the subway or even bending down to pick something up can take a lot out of her. But that isn’t apparent from the outside.

“I kind of call it being able to pass,” she says. “So I can pass as a normal, healthy, average person, which is great and definitely helps ease my everyday life — especially in interactions with strangers, getting your foot in the door in a situation like a job interview.”

But a foot in the door doesn’t mean people are sympathetic: Wayne Connell, who founded the Invisible Disabilities Association after his wife was diagnosed with Lyme disease and multiple sclerosis, is also quoted in the piece:

We’d park in disabled parking and she didn’t use a wheelchair or a cane, and so people would always give us dirty looks and scream at us… When they see someone in a wheelchair, OK, they get that they’re in a wheelchair. But what if they have chronic pain, what if they have PTSD — anything from cancer to peripheral neuropathy to autism?

Perhaps more importantly, disabled people have legal rights that are being ignored. Joyce Smithey, a lawyer who specializes in labor and employment, says it’s not uncommon for employers to say “We don’t do that as a policy” when people with invisible disabilities request accommodations. Smithy says:

And that’s a problem, because that person is not asking to partake of a benefit that’s offered in a policy; that person is asking for an accommodation they’re entitled to under the law.

Previously: When you say nothing at all: Living with an invisible illness, and How to cope with an “invisible illness”
Photo by Hugo Chisholm

Chronic Disease, Immunology, Infectious Disease, Neuroscience, Research, Stanford News

ME/CFS/SEID: It goes by many aliases, but its blood-chemistry signature is a giveaway

ME/CFS/SEID: It goes by many aliases, but its blood-chemistry signature is a giveaway

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It’s the disease that dare not speak its name without tripping over one of its other names. Call it what you will – chronic fatigue syndrome (CFS), myalgic encephalomyelitis (ME) or its latest, Institute of Medicine-sanctioned designation, systemic exertion intolerance disease (SEID). It’s very real, affecting between 1 million and 4 million people in the United States alone, according to Stanford infectious-disease sleuth Jose Montoya, MD, who has closely followed more than 200 SEID patients for several years and done extensive testing on these patients in an effort to find out what’s causing their condition.

Different authorities have quoted different numbers regarding those with SEID. The name-calling and number-assigning squishiness stems from the fact that beyond its chief defining symptom – overwhelming, unremitting exhaustion lasting for six months or longer – it’s tough to pin down. Additional symptoms can range from joint and muscle pain, incapacitating headaches or food intolerance to sore throat, lymph-node enlargement, gastrointestinal problems, abnormal blood-pressure or hypersensitivity to light, noise or other sensations.

Research into the hows and whys of SEID has been plagued by the inability to establish any characteristic biochemical or neuroanatomical underpinnings of the disorder. Although many viral suspects have been interrogated, no accused microbial culprit has been indicted. To this day, there are no valid laboratory tests for diagnosing SEID.

But a burst of insight into SEID’s physiological substrate came only months ago when Stanford neuroradiologist Mike Zeineh, MD, PhD, working with patients from Montoya’s registry, found that they shared a pattern of white-matter loss in specific parts of the brain. The discovery drew a great deal of attention in the press as well as the CFS community. (See our news release about that study for details.)

Now a high-profile, multi-institution team including Montoya has published a study in Science Advances showing yet another physiological basis for a diagnosis of SEID: a characteristic pattern, or “signature,” consisting of elevated levels of various circulating immune-signaling substances in the blood.

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Chronic Disease, Health Policy, Public Health, Public Safety, Stanford News

New uses for old polymers: Stanford Engineering team uses surgical glove material to make air filters

New uses for old polymers: Stanford Engineering team uses surgical glove material to make air filters

After visiting China and enduring the stifling air pollution, Stanford engineering professor Yi Cui, PhD, wanted to explore solutions to the problem. This week, his team published a paper in the scientific journal Nature Communications, detailing a new kind of highly effective air filter made out of polyacrylonitrile, a synthetic polymer that is used to make surgical gloves.

The researchers used a relatively new technique called electrospinning, or drawing out microscopically thin threads from a liquid to make a lightweight and fairly transparent filter out of PAN. The filter attracts particles from the air, especially those around 2.5 microns – or PM2.5 – which are among the most dangerous for the human respiratory tract.

The researchers make the case for the new PAN air filter pretty eloquently in a press release:

“It was mostly by luck, but we found that PAN had the characteristics we were looking for, and it is breathtakingly strong,” said Po-Chun Hsu, co-author on the study and a graduate student in Cui’s lab.

. . .

“The fiber just keeps accumulating particles, and can collect 10 times its own weight,” said Chong Liu, lead author on the paper and a graduate student in Cui’s lab. “The lifespan of its effectiveness depends on application, but in its current form, our tests suggest it collects particles for probably a week.”

The material collects 99 percent of air particles for up to a week, but is still 70 percent transparent, so it could be used as a window covering. “It might be the first time in years that people in Beijing can open their window and let in a fresh breeze,” Cui said in the statement.

Previously: The high cost of pollution on kids’ healthStudy shows air pollution may increase heart attack risk more than drug useContinuing pollution restrictions used during Beijing Olympics could reduce cancer rates and New insight into asthma-air pollution link
Video by Kurt Hickman

Chronic Disease

Letting go of my secret about Charcot-Marie-Tooth, “the biggest disease no one has heard of”

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; this month’s column comes from a patient advocate from Washington.

I’ve tried hundreds of different versions of my story to try to get people to understand. “I walk funny because I have Charcot-Marie-Tooth, also known as CMT. It’s named after the three doctors that discovered it: Charcot – Marie – Tooth. It’s a type of Muscular Dystrophy – but not really… It’s a genetic, progressive, neuromuscular disease that affects my legs and feet, arms and hands – and my diaphragm. It makes me tired. I’m sometimes in a lot of pain. Currently there is no treatment or cure. It’s just something I am living with.” Blah…blah…blah. I can see the person I’m talking with zoning out and I know I’m losing him. That’s hard because I’ve only just recently opened up about my CMT. I want my friends, family and the world to understand why I have struggles and limitations.

I’m 46 years old, and I was diagnosed at 13 years old. It’s been a secret I’ve kept hidden for 33 years.

The outpouring of support I received gave me the confidence and empowerment to get involved in raising awareness of the disease

CMT is by definition a rare disease, affecting fewer than 200,000 people in the U.S. Before the diagnosis, I tripped and fell a lot. When the pediatrician taped on my knee to test my reflexes, nothing happened (I always thought he just must be seeing something I didn’t see because he looked puzzled, but then moved on without commenting). I was constantly spraining my ankles and bandaging my knees from falling so much. Finally, the CMT diagnosis explained it. But it certainly didn’t do anything to help the situation other than confirm that I had a serious disease that would continue to burden my  me. I became a master of making excuses for why I couldn’t join in activities like volleyball, jogging, aerobics, hiking, walk-a-thons, and much more. Social events even upset me, and I became more isolated.

It wasn’t until my disease progressed to the point that I needed braces to help me walk that I could no longer keep my secret. While researching online for bracing options, I discovered the advocacy organization Hereditary Neuropathy Foundation. In finding the foundation, I realized I wasn’t alone: Many others felt as I did. I agreed to conduct a letter-writing campaign, letting friends and family know about the diagnosis and why I wear leg braces; doing so helped people understand why I made changes in my life in order to adapt to my CMT.

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Aging, Chronic Disease, In the News, Media, Neuroscience, Women's Health

Science Friday explores women’s heightened risk for Alzheimer’s

Science Friday explores women's heightened risk for Alzheimer's

More than two-thirds of the Americans living with Alzheimer’s are women — some like the character Alice in the movie “Still Alice,” who suffers from an early onset form of the disease.

Science Friday tackled that topic Friday, with guests Michael Greicius, MD, MPH, associate professor of neurology and director of the Stanford Center for Memory Disorders, and Roberta Diaz Brinton, PhD, professor of pharmacology at the University of Southern California. The two quickly disputed the belief that more women get Alzheimer’s disease because they live longer.

“The way women age puts them at risk,” Brinton said. As they transition through menopause, some women develop cognitive symptoms such as insomnia, depression and short-term memory loss, leaving them at greater risk for Alzheimer’s, she explained.

Women who have a form of a gene called APOE-e4 are particularly at risk, although it doesn’t seem to affect men, Greicius said. The gene interacts with estrogen.

Scientists are continuing to decipher the link between estrogen and Alzheimer’s and the possibility of hormone therapies, as well as the connection — if any — between pregnancy and Alzheimer’s risk, the scientists told listeners.

The 18-minute segment is available here.

Previously: Blocking a receptor on brain’s immune cells counters Alzheimer’s in mice, The state of Alzheimer’s research: A conversation with Stanford neurologist Michael Greicius, Having a copy of ApoE4 gene variant doubles Alzheimer’s risk for women but not for men and The toll of Alzheimer’s on caretakers

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