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Chronic Disease, Genetics, Patient Care

Navigating a rare genetic disorder with a positive attitude

Navigating a rare genetic disorder with a positive attitude

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 Carla Charter.

roam-1024x1024Seven years ago, when my youngest child was diagnosed with chromosome 12q duplication syndrome, I learned that I too had the syndrome. It’s a rare condition caused by the abnormal duplication of the long arm of chromosome 12, leaving three copies rather two.

At that point the 12q was more of a footnote to my hectic life. Syndrome or not, life went on. There was work and the children and hundreds of other things to think about, none of which the 12q really affected.

The syndrome that hadn’t affected my life too much reared its ugly head two years ago while I was driving home one night. In an instant, a highway exit disappeared from view and came back, giving me an extreme “What the heck was that?” moment. Little did I know that this episode was about to usher me into the world of visual impairments. I now have forearm crutches to help me walk. My visual distance impairment changes are frequent, and I have slight hearing loss.

Because I’m an advocate for people with disabilities, some praise me as inspirational. But I am not inspirational. I am human. There are days when I feel frustrated, overwhelmed with the changes in my life, and even a little cranky. It’s OK to admit it, because I’ve got a family who loves me through all of it. If I seem a little quiet or snappy, you may be meeting me on an off day. We all have off days — disability or not.

Those of us with disabilities also have our own way of coping with them. For me, it’s humor. It’s the reason I had a bright pink cane for a time. If I was going to have to deal with using a cane because of the 12q, I was going to find the brightest prettiest cane I could find and rock the heck out of the 12q.

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Chronic Disease, Global Health, Medical Apps, Stanford News

Reporting and treating cholera: Soon, there could be an app for that

Reporting and treating cholera: Soon, there could be an app for that

8424972981_35858721c7_zIn the aftermath of the 7.0 magnitude earthquake that shook Haiti in January 2010, clean water for drinking and hygiene was scarce. This set the stage for the largest cholera outbreak in recent history, killing an estimated 6,631 people. Now that a devastating 7.8 magnitude earthquake has hit Nepal, a similar situation may be in the works. Eric Jorge Nelson, MD, PhD, a pediatrician and cholera expert, is working to change this scenario with a smartphone app that he and his team are developing for use in places at high-risk for cholera outbreaks.

Although disasters and cholera often go hand in hand, the disease is also a perennial problem in places like Bangladesh and Nepal, where monsoons routinely overflow sewers and contaminate water supplies, Nelson explained. In areas such as these, about 2.8 million cases of cholera occur each year.

Time is of the essence when reporting and treating cholera. “The time it takes from when a person ingests the bacterium [Vibrio cholerae], becomes sick with diarrhea, and dies can be less than 24 hours,” Nelson told me during a recent conversation. If untreated, as many as half of the people with cholera can die, but the mortality rate drops to less than one percent if treated in time.

Therein lies the rub, Nelson explained. Many cholera-stricken areas have limited access to electricity and the tools that disease experts and doctors need to rapidly report and respond to a cholera outbreak. “The reporting mechanisms are often six-weeks delayed,” Nelson said. “We need a way to help hospitals; they need an ongoing system to provide real-time data.”

To address this problem, Nelson and his colleagues are creating a smartphone app with the aid of a $1.25-million Early Independence Award from the National Institutes of Health. Their first goal is to develop and deliver the app to doctors working in hospitals in Bangladesh, where cholera is common.

The app is a series of four pages that prompt the doctor to collect data that helps them report, diagnose and treat patients with cholera. It also contains a checklist of “danger signs” that doctors may fail to notice; this list reminds him or her to look for other illnesses that could mask or mimic cholera.

Perhaps the best feature of the app is that it’s fast. “If English is your first language, you can get through the app in roughly 60 seconds. If English is your second language, it takes about two minutes,” Nelson told me.

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AHCJ15, Cancer, Chronic Disease, Events, Medicine and Society, Palliative Care, Patient Care

Looking at cancer as a chronic illness

Looking at cancer as a chronic illness

6903202302_d9740cc15b_zMany of us think of cancer as a terminal illness, but as treatments have become more sophisticated, more and more people are living longer with cancer. So is it becoming a chronic condition like rheumatoid arthritis or insulin-dependent diabetes? A panel at this past weekend’s Association of Health Care Journalism 2015 conference addressed this question, starting with a metaphor that has really lodged itself in my brain: the Niagara Falls approach.

After she was diagnosed with stage-four breast cancer and her oncologist asked her what she wanted to accomplish, Amy Berman, RN, a grantmaker and senior program officer at the John A. Hartford Foundation, replied,”I want to do ‘Niagara Falls.'” For Berman, Niagara Falls means continuing to live with as high a quality of life as possible, and then when such quality is no longer sustainable, dramatically dropping to the inevitable end point. By contrast, a different oncologist had announced to her that they should fight the thing full-force, do everything possible to beat it, including a double mastectomy and chemotherapy until her body could no longer handle the toxicity. Berman thought this would be an inverse Niagara Falls, dramatically reducing her quality of life and then dragging on to the inevitable end.

Berman, who is something of a cancer celebrity, has lived nearly 5 years post-diagnosis at 11-20 percent odds, and she has never been hospitalized. She was beaming during her panel. “I look good,” she said, as the chuckling audience caught her joie de vivre. “And I feel the way I look.”

Berman made the point was that “as our nation ages,” providers need to have serious discussions with patients, not shield them from the truth through rosier prognoses. We need to debunk the myth that palliative care means giving up or accepting a shorter life, she said – rather, it focuses on quality of life and what’s important to patients. It also shifts care from hospital to home, and in doing so saves money: Berman passed up an estimated $1 million in treatment over the past 4 years. “This is how we need to think about care,” she said. “Managing people to live well with serious illness… My cancer cannot be cured, but I’m also not dying today.”

George Sledge, MD, professor of oncology at Stanford, a member of the Stanford Cancer Institute, and a medical writer, is on the same page about palliative care. He said he considers it a success if his patients never go to the hospital. But that doesn’t mean he brushes off the ways in which cancer is different than truly chronic diseases.

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Big data, Chronic Disease, Public Health, Research

Finding asthma outbreaks using Twitter: How social media can improve disease detection

Finding asthma outbreaks using Twitter: How social media can improve disease detection

Asthma_inhaler_useWant to know if bad air has sparked an asthma epidemic in your neighborhood? Well, you’ll have to wait several weeks using traditional epidemiologic methods, a time lag that makes prompt response efforts quite tricky.

Or, perhaps you can just check out your Twitter feed.

A team led by Sudha Ram, PhD, at the University of Arizona found that a model that aggregates Twitter data, Google searches, air quality data and asthma-related emergency room visits can predict outbreaks with 70 percent precision. It’s big data in action.

As Ram comments in a press release:

The CDC gets reports of emergency department visits several weeks after the fact, and then they put out surveillance maps. With our new model, we can now do this in almost real time, so that’s an important public health surveillance implication.

With that information, hospitals could beef up their staff and health care workers could reach out to at-risk populations.

In the future, Ram said she plans to examine diseases with greater geographic and temporal variability such as chronic obstructive pulmonary disease (COPD) and diabetes. Her research was published in a special issue of the Institute of Electrical and Electronics Engineers Journal of Biomedical and Health Informatics.

Previously: Advice for young doctors: Embrace Twitter, Mining Twitter to identify cases of foodborne illness and Text messages about asthma could help children breathe easier 
Via MedCity News
Photo by Wikimedia

Cardiovascular Medicine, Chronic Disease, Patient Care, Stanford News

Monitoring heart failure from home

Monitoring heart failure from home

blood pressure readingSometimes, the best way to prevent a visit to the hospital is to become your own care provider. That’s the theory behind a new Stanford-led project that monitors heart-failure patients at home.

From an Inside Stanford Medicine story on the pilot program:

“There is abundant evidence in the literature that suggests home monitoring can improve patient outcomes,” said Rita Ghatak, PhD, director of Stanford’s Aging Adult Services, one of the sponsors of the program. “It can improve survival, days out of the hospital, quality of life and it provides an extra measure of psychosocial support.”

Project leaders teach heart-failure patients, such as 74-old-year Earl Shook, who is featured in the story, how to measure their blood pressure and oxygen saturation at home. Patients also receive visits from specially trained nurses. A nurse caught when Shook’s blood pressure was climbing too high and helped get him in to the cardiologist the next day.

Shook said it was hard to leave the hospital, but he was reassured by the home-monitoring program. “It let me know there was somebody still caring for me.”

Previously: Exercise may boost heart failure patients’ mental and physical health, Failing at prescribing the best heart-failure treatments and Home health-care treatments for lymphedema patients cut costs and improve care 
Photo by sriram bala

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

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