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Chronic Disease

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

CDC, Chronic Disease, Events, In the News, Patient Care, Research

Stanford expert to discuss systemic exertion intolerance disease (formerly chronic fatigue syndrome) during public call

Stanford expert to discuss systemic exertion intolerance disease (formerly chronic fatigue syndrome) during public call

telephone-158190_640Chronic fatigue syndrome is not only real, but it also has a new name: “systemic exertion intolerance disease” (SEID). The weeks-old name change was heralded by an Institute of Medicine report, which was reviewed by Stanford’s José Montoya, MD.

Montoya will discuss the disease, the name change, and some of Stanford’s work on SEID, in a “patient-centered” conference call sponsored by the CDC on Monday afternoon. He’ll be joined by the CDC’s Elizabeth Unger, PhD, MD, chief of the chronic viral diseases branch.

The public is welcome to join in, and listeners will be able to submit questions during the conference call, which begins at noon Pacific time.

More details, including the call-in number, can be found on the CDC’s website.

Previously: Chronic fatigue syndrome gets more respect (and a new name), Some headway on chronic fatigue syndrome: Brain abnormalities pinpointed, Unbroken: A chronic fatigue syndrome patient’s long road to recovery and Patients’ reaction to ME/CFS coverage in Stanford Medicine magazine
Photo by OpenClips

Autoimmune Disease, Chronic Disease, Health and Fitness, Nutrition, Obesity, Research

Study clarifies link between dieting, exercise and reduced inflammation

Study clarifies link between dieting, exercise and reduced inflammation

4503404991_13da58b6e6_bIf you’ve ever wondered how dieting and exercise reduce inflammation, read on. According to new research, a compound that our bodies crank out when energy supplies are low could be the link between diet and exercise, and reduced swelling in the body.

When diet, fasting and exercise starve the body for calories, the body increases production of a compound called beta hydroxybutyrate (BHB). This compound has long been known as an alternate source of energy; the new research suggests that BHB can also block the inflammatory response.

In their study, published this week in Nature Medicine online (subscription required), a team of scientists co-led by Yun-Hee Youm and Kim Yen Nguyen at the Yale School of Medicine, discovered that the compound BHB reduces swelling in the body by inactivating a group of proteins, called the inflammasome, that drive the inflammatory response.

The research team used human immune cells and mice to explore the effects of BHB in the body. They found that mice given BHB directly, and mice fed a low-carbohydrate diet (that prompted their bodies to synthesize their own BHB), both benefited from reduced inflammation.

These results are noteworthy because a better understanding of the mechanism that links diet, exercise and inflammation could help scientists develop more effective treatments for inflammatory disorders such as Type 2 diabetes, atherosclerosis and Alzheimer’s disease.

Previously: Newly identified type-2 diabetes gene’s odds of being a false finding equal one in 1 followed by 19 zeroesImproving your health using herbs and spices, Exercise may alleviate symptoms of arthritis regardless of weight loss, Study points to inflammation as cause of plaque buildup in heart vessels and Examining the role of exercise in managing and preventing diabetes
Via ScienceDaily
Photo by Dave Nakayama

Chronic Disease, Health Policy, In the News, Pediatrics, Public Health, Sleep

Talking about teens’ “great sleep recession”

Talking about teens' "great sleep recession"

Sleepy Teen Student

We all understand, at some level, that sleep is critical to our health. But there’s a cultural undercurrent that belies that understanding: We tend to glorify the go-getters who can survive on four or five hours of sleep, lauding their productivity and drive. Numerous studies have shown that Americans of all ages – kids, teens, and adults – are not getting enough sleep.

More and more, researchers are warning that lack of sleep can damage our long-term health. Just yesterday, Rafael Pelayo, MD, with the Stanford Center for Sleep Sciences and Medicine, was on KQED’s Forum radio program to discuss a new study looking at some alarming trends in teen sleep habits. The study, titled “The Great Sleep Recession” was published this week in the scientific journal Pediatrics. It showed that over the past 20 years, teens have been getting less sleep. Girls, minority teens, teens in urban areas and of low socioeconomic status were less likely to get at least seven hours of sleep than male, white teens. What’s more, minority teens and low SES teens were likely to report they thought they got enough sleep.

During the show, Pelayo spoke about our relationship with sleep and the challenges of sticking to a “sleep budget”:

When I read the title [of the study] it made me think of Bill Dement, who talks – at Stanford – about a sleep debt and not having enough total sleep. And a sleep debt has been growing and accumulating in people who have used sleep as something as optional in their lives. These students are… modeling after their parents, who are not getting enough sleep… But in the kids, it’s a particularly hard problem for them, they feel pressure to not get enough sleep.

Pelayo went on to say that parents and teens tend to prioritize other things, like homework, over sleep – but what they should be doing is setting aside a certain amount of time for sleep. “If the homework doesn’t get done, it doesn’t get done. They can’t make homework more important than sleep,” he said.

That last statement is a pretty radical suggestion, but if we are to avoid the fall-out from our bad sleep habits, radical changes may be the only solution.

Previously: With school bells ringing, parents should ensure their children are doing enough sleeping, Stanford docs discuss all things sleep, Study shows poor sleep habits as a teenager can “stack the deck against you for obesity later in life” and What are the consequences of sleep deprivation?
Photo by Alberto Vacarro

Chronic Disease, Obesity, Research, Stanford News

Faulty fat cells may help explain how Type 2 diabetes begins

Faulty fat cells may help explain how Type 2 diabetes begins

heavywaterWhy do some obese people develop Type 2 diabetes while others don’t? New evidence suggests the answer may lie just beneath the skin. A study published this month in the Journal of Lipid Research found metabolic anomalies in the subcutaneous fat of a group of people at risk for diabetes. Basically, fat cells under their skin weren’t very good at storing fat.

That’s a problem because fat that doesn’t get stored in these cells must go somewhere, and it often ends up in other organs, such as the liver, muscle, pancreas and heart. In those locations, there is evidence that too much fat causes “lipotoxicity,” in part by interfering with the messages of the sugar-handling hormone insulin.

The new research, a collaboration between Stanford’s Tracey McLaughlin, MD, and her colleagues here and at UC Berkeley and the National Institutes of Health, used a state-of-the-art technique developed by Berkeley’s Marc Hellerstein, MD, PhD, to monitor fat synthesis and storage in the subcutaneous fat cells of 15 people. All of the subjects were overweight or obese. Half were insulin resistant: Although their blood-sugar levels were normal, their bodies responded poorly to their own insulin, a state that precedes full-blown Type 2 diabetes. (Many scientists think that understanding insulin resistance could lead to preventive strategies for Type 2 diabetes.) The other subjects had normal insulin sensitivity.

Each day for four weeks, the subjects drank a few sips of heavy water, a non-radioactive substance labeled with “heavy” hydrogen atoms that have an extra neutron. After four weeks, the scientists took small samples of the subjects’ subcutaneous belly fat and measured how much heavy hydrogen had been incorporated into the cells’ stored fat molecules and their DNA.

The insulin-resistant subjects had less heavy hydrogen in their fat molecules than the insulin-sensitive subjects, suggesting that their subcutaneous fat cells made and stored less fat during the study. The amount of heavy hydrogen in the DNA of the two groups’ fat cells was the same. This means that the insulin-resistant people were making new subcutaneous fat cells at the same rate as the insulin-sensitive people. The bodies of the insulin-resistant people could generate new fat cells under the skin, but the cells didn’t work quite right.

“This is an important extension of limited static and nonhuman data supporting the hypothesis that dysfunctional fat storage in subcutaneous adipose tissue contributes to obesity-associated insulin resistance,” the scientists wrote, adding that future identification of the molecules that cause this problem may help researchers develop drugs that could treat insulin resistance and prevent Type 2 diabetes.

Previously: The role of nutrition in diabetes prevention and management, Preventing pre-diabetes from turning into diabetes and The importance of regular exercise in delaying and treating diabetes
Photo by Kim P

Cancer, Chronic Disease, Clinical Trials, Science Policy

A look at crowdfunding clinical trials

A look at crowdfunding clinical trials

1024px-Assorted_United_States_coins I’ve been able to watch the crowdfunding phenomenon up close: My husband is a Kickstarter addict, and he, like millions of others, funds projects that speak to his passions and social priorities. In recent years, some non-profits have applied the crowdfunding model to clinical trials (something he hasn’t funded yet), and others may follow suit as federal-funding dollars dries up. Last week, Nature Medicine published an article that describes the first few years of those efforts and the questions they bring up.

As outlined in the piece, critics argue that the system unfairly penalizes those that may not have a large online social network to use to publicize their funding efforts, while proponents say it makes it possible for donors to connect more directly with the research and it increases transparency of research funding. As one source explains:

“One key thing is tangibility,” says Catherine Ferguson, Innovation Project Lead at Cancer Research UK, “It’s an inherent part of crowdfunding that isn’t inherent in regular funding.” Whether it’s a particular type of cancer or a particular therapy, crowdfunding allows for a “more direct relationship with both the researcher and the research,” she adds, emphasizing that this directed approach is good for maintaining relationships with donors.

Cancer Research UK, which we’ve written about before, was one of the early advocates of clinical trial crowdfunding. It recently concluded it first effort to crowdfund a clinical trial to study a vaccine for Epstein-Barr virus in cancer patients. The group fell far short of their goal, raising only six percent of the £40,000 ($61,000) goal on their Indiegogo campaign, so it returned the funds to donors. Again, from the article:

The organization chose a so-called fixed-funding model, in which they chose a goal amount but kept none of the funds that were raised if the goal wasn’t met. “It felt disingenuous to keep some of the money but not make the research happen,” said Ferguson. “We really wanted to emphasize that the money was for a specific project and if the project couldn’t be fully funded, then why keep the money?” Because the campaign wasn’t successful, the funds raised were returned to those who pledged the money, but Ferguson said that many of the donors reached out to make contributions to the organizations anyway.

Other organizations are using slightly different models, and the coming months, or maybe years, will reveal whether any are able to successfully fund clinical trials through this new avenue.

Previously: New crowdfunding sites apply Kickstarter model to health and medicineCan crowdfunding boost public support and financing for scientific research? and Crowdsourcing the identification of cancer cells
Photo by Elembis

Autoimmune Disease, Chronic Disease, Immunology, Stanford News, Videos

Chronic fatigue syndrome gets more respect (and a new name)

Chronic fatigue syndrome gets more respect (and a new name)

As has been widely reported, an Institute of Medicine (IOM) report released yesterday acknowledged that chronic fatigue syndrome is a real and serious disease and renamed the disorder “systemic exertion intolerance disease” to better reflect its key symptoms.

Stanford professor José Montoya, MD, who served as a reviewer on the IOM report, is featured in the video above, which accompanied Washington Post coverage of the development. The Post article goes on to say:

“We just needed to put to rest, once and for all, the idea that this is just psychosomatic or that people were making this up, or that they were just lazy,” said Ellen Wright Clayton, a professor of pediatrics and law at Vanderbilt University, who chaired the committee of the Institute of Medicine, the health arm of the National Academy of Sciences.

Although the cause of the disorder is still unknown, the panel established three critical symptoms for the condition (also known as myalgic encephalomyelitis):

  • A sharp reduction in the ability to engage in pre-illness activity levels that lasts for more than six months and is accompanied by deep fatigue that only recently developed.
  • Worsening of symptoms after any type of exertion, including “physical, cognitive or emotional stress.”
  • Sleep that doesn’t refresh the sufferer.

The panel also requires that a patient have one of two other disease manifestations, either cognitive impairment or orthostatic intolerance. Orthostatic intolerance is an autonomic nervous system disorder that is caused by an abnormal increase in heart rate and low blood pressure, believed to be triggered by the disease.

Susan Kruetzer, an SEID patient interviewed by Erin Allday in this San Francisico Chronicle article, expressed guarded optimism about the report’s ability to generate more research funding and patient support, saying “What I want to see is someone in Congress get pretty riled up by this report — have them see how many people are affected, how these people are really ill, how they’ve been mistreated,” Kreutzer said. “I’d just like to light a fire. I don’t know if this report will do that, but I suppose it gives us some ammunition.”

Previously: Some headway on chronic fatigue syndrome: Brain abnormalities pinpointed, Unbroken: A chronic fatigue syndrome patient’s long road to recovery and Deciphering the puzzle of chronic fatigue syndrome

Cardiovascular Medicine, Chronic Disease, Research, Stanford News, Surgery, Transplants

Growing number of donor hearts rejected for transplantation, Stanford study finds

Growing number of donor hearts rejected for transplantation, Stanford study finds

KhushAs a health writer, I’ve interviewed and written about numerous heart patients whose lives were saved when someone else died and donated their hearts for transplantation.

Those patients expressed both the anguish of hoping and praying for a new heart — when that means someone else has to die — and the overwhelming gratefulness for those donor hearts that saved their lives.

So when I wrote a story about a new Stanford study that shows an increasing number of donor hearts being rejected for transplantation, it struck a chord.

The study, published today online in the American Journal of Transplantation, found that the number of hearts rejected for transplant by surgeons and transplant centers is on the rise despite the growing need for such organs. As cardiologist Kiran Khush, MD, the lead author of the study, said in my story on the work, “We’ve become more conservative over the past 15-20 years in terms of acceptance, which is particularly troubling because of the national shortage of donor hearts and the growing number of critically ill patients awaiting heart transplantation.”

Khush and her colleagues sought to study national trends in donor-heart use by examining data from the federal government’s Organ Procurement and Transplantation Network on all donated hearts from 1995-2010. Of 82,053 potential donor hearts, 34 percent were accepted and 48 percent were declined. The remainder were used for other purposes such as research.

The researchers found a significant decrease in donor heart acceptance, from 44 percent in 1995 to 29 percent in 2006, which rebounded slightly to 32 percent in 2010. They also found, as I wrote in the story:

Among a portion of donor hearts that are referred to as “marginal” — those with undesirable qualities, such as being small or coming from an older donor — their use in transplantation varied significantly across geographical regions depending on choices made by the surgeons and the transplant centers.

The study explored possible reasons for so few organs being accepted. Increasing scrutiny by regulatory agencies of the 140 or so transplant centers across the country may have had the unintended result of making surgeons and centers more risk averse and as a result reject more hearts. Also, an increasing us of mechanical circulatory support devices that help keep patients alive while waiting for donor hears, may cause surgeons to wait longer for “better hearts.”

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Big data, Cardiovascular Medicine, Chronic Disease, Research, Stanford News

Big data used to help identify patients at risk of deadly high-cholesterol disorder

Big data used to help identify patients at risk of deadly high-cholesterol disorder

Familial hypercholesterolemia is not exactly a catchy name. But Stanford cardiologist Josh Knowles, MD, is determined to make it easier to remember. This little known, high-cholesterol disease is a silent killer. If you don’t know you have it, it can strike suddenly – and years before most people ever start worrying about heart attacks.

Knowles and fellow researchers at Stanford have launched a new research project aimed at identifying people at-risk of having FH. Using “big data” research methods and software that “teaches” a computer how to recognize patterns, researchers plan to comb through electronic medical records at Stanford hospitals and, if successful, pinpoint those who might have the disease and not know it.

In a story I wrote on the new project, Knowles described how this innovative technology could potentially be used to transform health care:

Machine learning, in which computer algorithms learn to recognize patterns within data, is widely used by Internet businesses such as Amazon and Netflix to improve customer experience, get information about trends, identify likes and dislikes and target advertisements. These techniques have not been widely applied in medicine, but we believe that they offer the potential to transform health care, particularly with the increased reliance on electronic health records.

Using these methods to help identify patients with FH is a good place to start, Knowles said, since there are currently few systematic approaches to finding people with FH, and many doctors are unfamiliar with the disease. As he told me:

This disorder certainly leads to premature death in thousands of Americans each year … Less than 10 percent of cases are diagnosed, leaving an estimated 600,000 to 1 million people undiagnosed. If found early enough and treated aggressively with statin-based regimens, people can live longer, healthier lives.

The project is part of a larger initiative called FIND FH (Flag, Identify, Network, Deliver), a collaborative effort involving Stanford Medicine, Amgen Inc., and the nonprofit Familial Hypercholesterolemia Foundation to use innovative technologies to identify individuals with the disorder who are undiagnosed, untreated, or undertreated.

Previously: Registration for Big Data in Biomedicine conference now open, Hope for patients with familial hypercholesterolemia and Born with high cholesterol
Photo by Dwight Eschliman

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