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Chronic Disease, Research, Stanford News, Videos

“This is probably one of the last major diseases we know nothing about”: A look at CFS

“This is probably one of the last major diseases we know nothing about": A look at CFS

Chronic fatigue syndrome affects between 836,000 to 2.5 million people in the United States, and 25 percent of them are confined to their bed. Earlier this year, the Institute of Medicine released a report acknowledging that chronic fatigue syndrome is a real and serious disease and renaming the disorder “systemic exertion intolerance disease” to better reflect its key symptoms.

The current issue of Palo Alto Weekly focuses on the disease and tells the story of local resident Whitney Dafoe, a promising 31-year-old photographer whose career was cut short when he began experiencing crushing fatigue, dizziness, gastrointestinal problems and dramatic weight loss:

Dafoe’s disease has progressed to the point that he cannot talk, read or use the Internet. His joint pain became so severe some time ago that he could no longer walk and needed to use a wheel chair. Now he rarely gets out of bed. On a good day, he’ll show his gratitude by pointing to his heart, his mother said.

His parents have stuck a few brief messages he’s scrawled on notes to the door frame outside his room. The yellow squares of paper are the only way he can communicate these days.

“I don’t know what to say. I just feel pretty hopeless about all this. I never get a break from bad things,” he wrote on one note.

“It’s so hard not being able to take care of my stuff. The feeling of helplessness it gives me is so stressful,” another states.

Dafoe, who is also featured in the above video, is the son of Ronald Davis, PhD, a genetics researcher who was instrumental in the Human Genome Project and directs Stanford’s Chronic Fatigue Syndrome Research Center. A second article details how Davis and colleagues are working to better understand the debilitating disease and develop diagnostic tests and treatments:

Davis and his team plan to use technologies developed for the Human Genome Project to sequence the entire genome of chronic fatigue patients, including 1,600 mitochondrial genes, more than 20,000 other genes and control regions that regulate genes. They hope to identify proteins that are found in immune cells, blood and spinal fluid; search for infectious agents in blood, bone marrow, spinal fluid and saliva and changes to gastrointestinal tract flora; and find evidence of autoimmune responses. The research could reveal DNA sequences that are altered in chronic fatigue patients.

The detailed approach is more comprehensive than that of other research, which has only looked at a fraction of the genes, according to the center’s website.

Davis is working with numerous collaborators across many fields, hoping the collaborative effort will attract the best minds in their fields.

“This is probably one of the last major diseases we know nothing about. This is your last chance to be a pioneer,” he said.

Previously: ME/CFS/SEID: It goes by many aliases, but its blood-chemistry signature is a giveawayChronic fatigue syndrome gets more respect (and a new name), Studies on ME/chronic fatigue syndrome continue to grab headlines, spur conversation, Unbroken: A chronic fatigue syndrome patient’s long road to recovery and Deciphering the puzzle of chronic fatigue syndrome

Chronic Disease, Patient Care, Pediatrics

On growing up with chronic illness: “I’ve never felt like I had ownership over my body”

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 with Crohn’s disease.

woman-body-144220_1280

As a child who was diagnosed with Crohn’s disease at the age of nine, I learned to give my power over to my doctors and parents. I never questioned the constant prodding, the pain that I had to endure from different tests and exams, the dozen pills that I swallowed down each day, because after all, I was to trust doctors and adults. They knew what was best for me. They knew what was best for my body. And of course, this is true – but only to an extent. Please hear me out.

In no way am I undermining the miraculous work that medical professionals do each and every day. I am beyond grateful for the way that my disease was handled, I was given a fairly normal childhood because of the way my medical team was able to manage my disease. And on top of that, I have the most incredible parents who handled my disease beautifully; they allowed me to feel supported, loved and taken care of. Honestly, I just had to show up for doctor appointments, swallow pills, and be a kid. I left the details up to the adults.

But then I started growing up. High school, boys, and school dances became my new normal. I lost my power at the age of 17 when I was date raped. Although I attempted to say “no” and stick up for myself, I ultimately didn’t know how to confidently do this. I didn’t know how to command respect because I was so used to never being asked to say “yes.” Unfortunately, this situation snowballed into another date rape and ultimately a suicide attempt. I truly felt detached from my body. It wasn’t mine. I didn’t know how to handle it. I despised it. It was the source of so much pain. And so, I wanted to leave it.

I never connected my inability to stick up for myself with being a child of chronic disease until the last couple of years. As I reflect back, the correlation is so clear. I never was taught to question what my doctors did to my body. I cannot recall being asked if it was “okay” to be examined or to be touched. If I was in a doctor’s office, it was just assumed and expected. To be clear: There was absolutely never anything inappropriate that happened to me in my doctors’ care. I think the only reason that the perceived lack of power on my side affected me is because I was a child, and I didn’t have the capability to differentiate the way I handled my body in the care of a doctor versus the hands of a teenage boy.

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Chronic Disease, Global Health, Health Policy, Public Health, Research, Stanford News

Finding the sweet spot in public health law to regulate sugary drinks

Finding the sweet spot in public health law to regulate sugary drinks

lemonade-155663_1280Two Stanford public health law experts say one of the biggest culprits of the obesity epidemic – on top of fast foods and sedentary lifestyles – is sugary drinks. And they believe the sweet spot for public health law in curbing the adverse effects of sugar-sweetened beverages (SSBs) lies in the strategic use of measures such as higher SSB taxes, limits on advertisements targeting kids, and restrictions on soft drinks and sugar-sweetened teas and sports drinks in government institutions, such as public schools.

“Enough is already known about the promise of some legal interventions to curb SSB consumption – significant tax hikes and advertising restrictions are two good examples – to be fairly confident that they would make a difference,” says David Studdert, MD, a professor in the medical and law schools and a core faculty member at the Center for Health Policy/Center for Primary Care and Outcomes Research.

Studdert is the lead author of a review paper, “Searching for Public Health Law’s Sweet Spot: The Regulation of Sugar-Sweetened Beverages,” which was published today in PLoS Medicine.

Studdert and senior author Michelle Mello, MD, also a professor in the medical and law schools, and co-author Jordan Flanders, a former Stanford Law School student, argue that sugary drinks are a substantial, yet preventable contributor to the global burden of obesity and associated health conditions.

A recent study in the journal Circulation linked the consumption of sugary drinks to an estimated 184,000 adult deaths each year, with more than 25,000 of those Americans. While Americans’ consumption of sugary drinks has plateaued, according to the research, about three-fourths of the deaths due to SSBs are now in developing countries. Mexico leads with 24,000 total deaths. The United States still ranks fourth, however, just behind South Africa and Morocco.

The Stanford researchers say the evidence shows that sugary drinks are contributors to the global obesity epidemic, but the appropriate reach of regulation to curtail SSB consumptions remains highly contested.

“Finding public health law’s sweet spot requires regulatory approaches that are capable both of achieving measurable improvements to public health and of winning victories in courts of law and public opinion,” they wrote.

That’s often difficult.

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Chronic Disease, Neuroscience, Pregnancy, Research, Women's Health

Women with epilepsy face elevated risk of death during pregnancy and childbirth – but why?

Women with epilepsy face elevated risk of death during pregnancy and childbirth - but why?

5987537049_ed5eff3b31_zWomen with epilepsy face a higher risk of death and a host of complications during their pregnancies than other women, according to a new study published today in the Journal of the American Medical Association Neurology.

The researchers found women with epilepsy had a risk of 80 deaths per 100,000 pregnancies, more than 10 times higher than the risk of 6 deaths per 100,000 pregnancies faced by other women.

That’s a big deal, neurologists Jacqueline French, MD, from NYU Langone Medical Center, and Stanford’s Kimford Meador, MD, write in an accompanying editorial.

“The study should sound a major alarm among physicians and researchers,” French and Meador write. But, it fails to answer an integral question, they say: Who exactly is at risk and why did the women die?

Women with epilepsy are more likely to have hypertension, diabetes and a variety of psychiatric conditions. Are those conditions responsible for the differences in death rates, the authors question.

The study also fails to distinguish between women with well-controlled epilepsy and those continuing to suffer seizures. “These are critical questions, and, without the answers, we are left in the unsatisfying position of having to advise all women with epilepsy that they may be at higher risk,” French and Meador write. The study “raises far more questions than it answers. Most women with epilepsy have uncomplicated pregnancies.”

The authors conclude: “Future studies need to confirm and build on the present findings to improve the care of women with epilepsy during pregnancy.”

Previously: Treating intractible epilepsy, Ask Stanford Med: Neurologist taking questions on drug-resistant epilepsy and How epilepsy patients are teaching Stanford scientists more about the brain
Photo by José Manuel Ríos Valiente

Big data, BigDataMed15, Chronic Disease, Genetics, Videos

Parents turn to data after son is diagnosed with ultra-rare disease

Parents turn to data after son is diagnosed with ultra-rare disease

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

Four years ago, Matthew Might, PhD, and his wife, Christina, learned that their son Bertrand was the first person to be diagnosed with ultra-rare genetic disorder called N-Glycanase Disorder. At the 2015 Big Data in Biomedicine conference at Stanford, Might recounted the story of his son’s medical odyssey and explained how a team of Duke University researchers used whole-exome sequencing, which is a protein-focused variant of whole-genome sequencing, on himself, his wife and Bertrand to arrive at his son’s diagnosis.

Watch the video above to find out how Might and his family, who turned a deaf ear to doctors’ advice that nothing could be done for their son, harnessed the power of the Internet to identify 35 more patients with the same disorder and are now leading the charge in helping scientists better understand the disorder.

Previously: Nobel Laureate Michael Levitt explains why “biology is information rich” at Big Data in Biomedicine, At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health, Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients, On the move: Big Data in Biomedicine goes mobile with discussion on mHealth and Big Data in Biomedicine panelists: Genomics’ future is bright

Chronic Disease, Genetics, Health Disparities, Pediatrics, Research, Stanford News

Cystic fibrosis is deadlier for Hispanic patients, Stanford study finds

Cystic fibrosis is deadlier for Hispanic patients, Stanford study finds

Lungs-embroideryHow do physician-scientists select research projects? Sometimes, they’re prompted by the niggling feeling that something is not right.

That’s what happened to cystic fibrosis doctor MyMy Buu, MD, the lead author on a new paper that uncovers an important health disparity, a higher mortality rate for CF patients of Hispanic ethnicity. Buu, a pediatric pulmonologist who takes care of CF kids at Lucile Packard Children’s Hospital Stanford, launched the research because she noticed something worrying: It seemed to her that a lot of Hispanic children with CF were not doing well.

“…I didn’t know if this was just because we have more Hispanic patients in California, or if they were actually, really, sicker,” Buu said. CF is a genetic disease that causes serious breathing and digestive problems; Buu’s job is a mixture of trying to help her patients stay relatively healthy and dealing with complications of the disease.

“Because I’m interested in health disparities, I wanted to see if there were any differences in outcomes in the Hispanic group,” she said.

She turned to the Cystic Fibrosis Foundation‘s patient registry, focusing on 20 years of data that encompass every California child diagnosed with CF from the beginning of 1991 to the end of 2010. Of the children studied, Hispanic CF patients were almost three times as likely to die as their non-Hispanic counterparts.

Buu and her colleagues were able to use the data to eliminate several possible explanations for the disparity. Hispanic children were not being diagnosed later than non-Hispanic kids and did not have less access to health care, for instance. Our press release about the study describes the factors that may contribute to the disparity:

However, the researchers did find important clinical and social differences between the groups. At age 6, the earliest that lung function is routinely and reliably measured for patients with CF, Hispanic children with CF had worse lung function than non-Hispanic kids with the disease. The gap in lung function persisted as the children aged, although it did not widen. And although the same proportion of patients in both groups eventually developed CF complications, the complications struck Hispanic patients earlier in life. Hispanic patients lived in poorer neighborhoods and were more likely to be covered by public health insurance than their non-Hispanic counterparts.

The research also showed that, between the two groups, different mutations prevailed in the disease-causing gene, which is called the CF transmembrane conductance regulator gene. Hispanic patients tended to have rare and poorly characterized mutations in their CFTR gene, whereas non-Hispanic patients had more common mutations that have been more extensively researched.

The next steps, Buu said, are to make others aware of the increased risk for Hispanic CF patients and to figure out how the risk can be reduced.

Previously: Cystic fibrosis patient on her 20+ years of care, New Stanford-developed sweat test may aid in development of cystic fibrosis treatments and Film about twin sisters’ double lung transplants and battle against cystic fibrosis available online
Image by Hey Paul Studios

Chronic Disease, Pediatrics, Research

Earlier puberty linked with wide range of health conditions in study

Earlier puberty linked with wide range of health conditions in study

children-516340_1280Given that I have an eight-and-a-half-year-old who looks and often acts much older than her age, puberty has been on my mind a lot lately. (So much so, in fact, that I just got the highly regarded book The New Puberty: How to navigate early development in today’s girls – y’know, just in case). I was interested, then, to come across results of a recent U.K. study that examined the effect of the timing of puberty onset on later physical health.

A Medical Research Council press release nicely summarizes the work, which is the largest of its kind to date:

The study, published in Scientific Reports, confirms previous findings that early puberty in women is a risk factor for heart disease and type 2 diabetes, and showed, for the first time, that early puberty in men also influences these same conditions.

In addition, new links were found between the timing of puberty and a wider range of health conditions, including irritable bowel syndrome, arthritis, glaucoma, psoriasis and depression in men and women, and also early menopause in women.

Researchers tested data from nearly half a million people in UK Biobank, a national study for health research funded primarily by the [Medical Research Council Epidemiology Unit at the University of Cambridge] and the Wellcome Trust. Participants were asked to recall puberty-timing by remembering the age of their first monthly period for women and age at voice-breaking for men.

Those in the earliest or latest 20 percent to go through puberty had higher risks for late-life disease when compared to those in the middle 20 percent, including around 50 percent higher relative risks for type 2 diabetes, heart disease and poor overall health. Furthermore, these disease links were not simply explained by nutritional status or obesity.

It’s important to note that the study relied on self reports versus medical records on puberty timing – which the authors call the main limitation of their work. In addition, as is emphasized in the release, the findings don’t show cause and effect but instead demonstrate “a causal link between puberty and certain diseases.” Still, the results are interesting and appear important enough for more scientific digging; as the authors conclude in the paper, “further work is needed to understand the possible… mechanisms that link puberty timing to later life health outcomes.”

Previously: Study shows former foster kids face higher risk of future health problems“The child is father of the man”: Exploring developmental origins of health and disease and Research shows kids’ health good predictor of parents’ future health
Photo by EME

Chronic Disease, In the News, Pain, Research, Science, Stanford News

Scientific discovery could lead to treatments for chronic pancreatitis

Scientific discovery could lead to treatments for chronic pancreatitis

Pancreatitis is one of the most common gastrointestinal hospital admissions-related illness. Patients with the acute form of the disease show up at hospitals doubled over with severe abdominal pain, a swollen belly that’s tender to the touch, nausea, and vomiting.

For some patients the disease flares up then disappears. For others, it develops into an ongoing, chronic form of the disease with no known cure. Not only is it extremely painful, it also causes malnutrition and carries with it a high risk of leading to pancreatic cancer. Treatment options are pretty much limited to prescription pain killers.

This has great implication in a disease that has no active therapy with no known agents that can alter its natural devastating course

It’s known that chronic pancreatitis is marked by the uncontrolled growth of scar tissue in the pancreas known as fibrosis, which slowly destroys the organ’s ability to function. Since the pancreas is in charge of excreting enzymes to digest food, patients begin to suffer malnutrition. It’s also known that excessive alcohol consumption is the leading cause of pancreatitis but just what is happening at a molecular level to cause the fibrosis is less clear.

Now, Stanford researcher and gastroenterologist Aida Habtezion, MD, and colleagues here and at Cedars-Sinai Medical Center have published research that sheds light on what exactly is happening and could lead to treatments for the severe disease. In a story I wrote on the study, Habtezion discusses their discovery of a new molecular pathway that when blocked by an experimental pharmacological drug can slow the progression of pancreatitis in animal models and in human cells.

As Habtezion told me, her lab’s research into just how the immune cells of the pancreas behave when inflamed with pancreatitis unveiled the new pathway:

“For the first time we can show that macrophages interact with pancreatic stellate cells via a particular immune pathway, and by targeting this pathway we show a decrease in chronic pancreatitis/fibrosis progression,” she said. “This has great implication in a disease that has no active therapy with no known agents that can alter its natural devastating course.”

The hope is that researchers will now be able to develop a form of the experimental pharmacological agent used in the study to block the molecular pathway that can be given to humans. Blocking the pathway will block the scar tissue growth, and hopefully either slow the progression of the disease or reverse it altogether.

Chronic Disease, Parenting

Living with the uncertainty of NF

Living with the uncertainty of NF

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 Kate Duff of Massachusetts.

Silver LiningWhen our adult daughter Megan was about three years old, I noticed several bumps on the side of her head, and some brown spots on her belly. After meeting with her pediatrician, Megan had surgery to remove the bumps.

The week after the surgery, her surgeon called to say that what he removed were tumors and that Megan had neurofibromatosis (NF), and that we would be hearing from her pediatrician, and he hung up the phone. This was in 1987. There was no quick or easy way to look up information on NF, and never mind trying to research – I had NO idea what the surgeon even said.

Our pediatrician told us what NF was and that Megan most likely had this disorder, but she had never had a patient with NF. She gave us a Neurofibromatosis Northeast pamphlet that detailed what seemed to be a lot of scary things about the disease. We left the office overwhelmed and just couldn’t believe that our perfect little girl had this horrible disorder. We agonized about Megan’s future.

The next day, I called the number on the back of that flier. What I know now is that that was a lucky day for my family and me. The nonprofit organization Neurofibromatosis Northeast and its executive director, Karen Peluso, have saved my family and Megan many times over the last 28 years.

Although NF has brought us challenges, it has never been too serious or life threatening. Megan has had her share of surgeries to remove painful and disfiguring tumors, and she has dealt with learning disabilities that she has overcome to become a college graduate.

But in October 2013 all that changed. A week before her 30th birthday, I had to give Megan the news that she had aggressive breast cancer. We learned that people with NF have a four times greater risk of having breast cancer.

Megan has had a double mastectomy, reconstruction surgery, two rounds of chemo, and now doing radiation and a 3rd round of chemo. We have approached her breast cancer as we have approach her NF – by taking one day at a time – and living this way has truly helped her stay positive thru her treatments. Even with her NF, Megan has never asked, “Why me?” She handles all of this with amazing courage and grace. She is my hero.

Five years ago I met a group of mothers whose young children were recently diagnosed with NF. I wanted them to meet Megan to see how bright their children’s futures can be; I wanted them to know it’s not all gloom and doom.

If we can keep the doctors at the microscopes so they can find a cure for this horrible disorder, maybe we can make patients’ quality of life better and not so scary and uncertain. Research money is what will allow that to happen.

When Megan was first diagnosed, a dear friend said how sorry she was, and that she just couldn’t find a silver lining in all of this. But my friend was wrong. Through this journey with Megan and NF, we may not have seen it right away, but it was there: All the amazing, caring and generous people we’ve met along the way are the silver lining.

Kate Duff lives in Massachusetts with her family. For the past three decades, through Neurofibromatosis Northeast, Duff has helped raise money for NF research, and also support families affected by NF.

Photo by LadyDragonflyCC

Chronic Disease, In the News, Pediatrics, Research

A picture is worth a thousand words: Researchers use photos to see how Type 1 diabetes affects kids

A picture is worth a thousand words: Researchers use photos to see how Type 1 diabetes affects kids

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The impact of Type 1 diabetes can be a trying and forceful one, especially for children. To better understand the disease’s role in young patients’ lives, Ashby Walker, PhD, and colleagues at University of Florida conducted a study in which they gave 40 kids cameras and asked them to take photos representing what life with diabetes meant for them.

university press release discussed what the researchers found:

The most common pictures were of diabetes supplies, with 88 percent of youth taking at least one picture of needles, syringes, meters, pumps, insulin, ketone strips, test kits, and other materials for managing diabetes.

The accompanying captions focused mainly on the unavoidable presence of these supplies in the youths’ lives and the annoyance surrounding that fact. For instance, one white male participant wrote: “Diabetes means the burden of supplies,” and another wrote, “Because this is my life now. Needles and medicine, needles and medicine.”

Approximately half the adolescents also took pictures of their bodies with bruises, calluses, and pricked fingertips to display the physical pain and bodily evidence of diabetes and wrote captions that illustrate the pain and burden of the disease. For instance, one white female participant wrote: “This is a scar. Diabetes is about learning to get used to what hurts.”

The researchers also saw key differences in the types of photos taken by children in different socioeconomic situations:

…[Y]outh from more affluent households were more likely to take photos with symbols of resistance. The resistance photos and captions showed how the adolescents overcome the hardships associated with diabetes and sought to show how they would not be defined or limited by their diagnosis. More than half the adolescents took at least one resilience photo, but affluent youth were more likely to take these pictures than those from lower socioeconomic levels.

For instance, one white male wrote: “This shows that diabetes does not limit what you can do in your life,” describing a photo of a map with red dots on places he had traveled during the summer months.

“These photos demonstrate the importance of assisting low-income youth by providing them with resources and perspectives that encourage them to not be defined by their diagnosis,” Walker concludes. Her work appears in the journal Diabetes Spectrum.

Alex Giacomini is an English literature major at UC Berkeley and a writing and social media intern in the medical school’s Office of Communication and Public Affairs.  

Previously: High blood sugar linked to reduced brain growth in children with Type 1 diabetesTips for parents on recognizing and responding to type 1 diabetes and Researchers struggle to explain rise of Type 1 diabetes
Photo by Jill Brown

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