Monthly Archives: August 2016

crohns

Crohn’s disease scientist knows the disease as a patient, too

Whenever a co-worker has a bad cold, Karen Edelblum wears a mask. Karen Edelblum is an assistant professor at Rutgers New Jersey Medical School studying Crohn’s disease. She also has the bowel disease herself.  Crohn’s disease scientist knows the disease as a patient, too
She has sworn off raspberries and popcorn.

And, although just in her mid-30s, she already has been through a case of shingles, a disease that more typically strikes those over 50.

Such is life for someone with Crohn’s disease, a misery-inducing immune disorder with flare-ups that she likens to having food poisoning for months on end.

But unlike most of the 1.6 million others in the United States who suffer from inflammatory  bowel disease (IBD ), which includes Crohn’s and colitis, Edelblum is fighting the problem not only as a patient, but also as a scientist.

An assistant professor at Rutgers New Jersey Medical School, she has uncovered new clues about specialized cells in the immune system, ingeniously recording microscopic movies of their activity inside a live mouse.
Edelblum also is active in the patient community, having worked nine summers at a camp for children with the condition, and raising money for research. All the while she maintains a sense of humor about a disease.

She gets high marks from former boss Jerrold R. Turner, a senior pathologist at Brigham and Women’s Hospital in Boston.

“She’s really the full package,” said Turner, a faculty member at Harvard Medical School. “She’s not somebody who’s going to go into her lab and close the door.”

It was a course that Edelblum started plotting when she was 13 years old.

An initial misdiagnosis

That’s when the first flare-up happened.

Like others with her condition, Edelblum has a “leaky” gut – a flaw in the lining that separates the intestinal tract from the bloodstream.

But that alone is not enough to cause colitis, which strikes the colon, or Crohn’s, which can occur anywhere in the digestive tract.

Sufferers also have an immune system prone to going into overdrive, so that when bacteria invade, the immune response sets off a vicious cycle of inflammation, leading to further impairment of the intestinal lining.

It is unclear what triggers a flare-up, though stress can contribute. Physicians sometimes fail to read the signs.

Edelblum had a chronic fever and gastrointestinal distress, and one internist suggested she might have leukemia. Her mother was skeptical and sought another opinion, eventually getting a diagnosis of Crohn’s.

The 13-year-old patient then asked her doctor three questions: Am I going to die? (Not from this.) Is there a cure? (No.) If I have kids, would they get it? (Possibly.)

“That’s when I decided this is what I’m going to do with my life,” she recalled last month, sitting in her lab in Newark, N.J. “If I have the capability to change this outcome for myself or others, then why not do that?”

Growing up in the Houston area, she always had been interested in science. When peers recoiled from dissecting worms and other creatures in science class, she would offer to come in early and do it for them.

She studied biology as an undergraduate at Emory University, followed by a doctorate in cell biology at Vanderbilt University and a post-doctoral position with Turner, then at the University of Chicago.

 

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Edelblum was far from the first patient who aspired to study her own disease, Turner said.

“What’s unusual is that she followed through, and she didn’t change her mind later,” he said. “What most people in the world don’t realize is how hard research is.”

Working with Turner, she used sophisticated microscopes to peer inside the gut of a sedated mouse, carefully performing surgery to ease the animal’s intestines onto a glass plate without disrupting their function.

Sitting in front of a computer screen at Rutgers, she called up a series of images recorded through that procedure, revealing the activity of a poorly understood immune soldier called a gamma delta T-cell.

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Highlighted in fluorescent green, the cells can be seen approaching the lining of the animal’s intestine. They remain in position for a few minutes, then retreat and move to another location, a pattern that made Edelblum think of a sentinel on patrol.

Last year in the journal Gastroenterology, she, Turner, and colleagues reported that these sentinels appear to serve an antibacterial function.

The team administered Salmonella bacteria to two kinds of mice: one in which the movement of these sentinels was genetically blocked, and another in which it was enhanced.

“If you block the migration of these cells, more bacteria get in,” Edelblum said. “And if you enhance the migration, fewer of them get in.”

Other researchers have shown that the cells secrete an antimicrobial peptide, though it is not clear that is what keeps the bacteria from getting across.

These sentinels are not compromised in people with Crohn’s or colitis, Edelblum said. Rather, she hopes there might be a way to enhance their activity to strengthen a patient’s defenses against the disease.

They appear to be among the immune system’s first lines of defense, springing into action long before inflammation sets in.

She is intent on finding what causes the sentinels to migrate. Some signal from the bacteria, perhaps.

For now, Edelblum keeps her own disease at bay with immunosupressive drugs, receiving intravenous infusions every 10 weeks. With careful management of her disease, she has not had a flare-up in 14 years.

But the suppressed immune system led to the case of shingles a few years ago, and it makes her wary of sneezing coworkers. And past flare-ups have left her with lesions in her colon, hence the need to avoid popcorn and raspberries – too irritating.

She continues to advise others with inflammatory bowel disease, and in one case went a step further, inviting a patient from the summer camp to come work with her for a few months.

The microscopic sentinels on her computer screen may not end up holding the answer. But Edelblum is determined to serve as a human sentinel so long as the disease poses a threat.

 

“This article is written by Tom Avril for the Philly magazine”

SWIMMING

Swimmer Kathleen Baker Overcomes Crohn’s Disease to Become an Olympian

Kathleen Baker, 19, has fought to prevent her health challenges from defining her. Talking about her condition, she said: “I found doctors who weren’t going to be just like, ‘You’re Kathleen with Crohn’s disease.’ I need to be Kathleen the swimmer with Crohn’s disease.”

Baker, who qualified for the Olympics in the backstroke — and perhaps a relay — seven years after receiving the life-altering diagnosis, will not be the first American Olympian with Crohn’s. The kayaker Carrie Johnson, now retired, made the first of three Olympic teams in 2004, a year after she was found to have the disease. Other prominent athletes who have the condition include the N.F.L. quarterback David Garrard, who had a foot of his intestines removed, and the former N.H.L. player Kevin Dineen, who played 16 seasons after learning he had Crohn’s.

Baker, who was born and raised in Winston-Salem, N.C., can remember clearly when she started feeling poorly. It was February 2010, the same weekend she set her first two national age-group records, shortly before her 13th birthday. She complained of fatigue and was running a fever. When lab tests came back inconclusive, her pediatrician, Barbara Clifford, referred her to a gastroenterologist for a colonoscopy. It was Baker’s first; since then she has had more than half a dozen.

She learned of her diagnosis by accident. Feeling too ill to sit in class, Baker had sought refuge in the office of her father, then the head of the lower school at Forsyth Country Day, where she was a student.

The next year was a blur of doctors’ offices and medical tests and illnesses, including whooping cough and a broken rib sustained during a violent coughing episode. The first Crohn’s treatment she was put on involved a daily regimen of more than a dozen pills, but it was ineffective.

Eighth grade was a nightmare, Baker said. Already thin, she lost more than 10 pounds, prompting her mother to feed her a cheeseburger and a 500-calorie piece of cheesecake each night to try to keep her weight up.

“For years afterward,” Baker said, “I could not eat those foods because I hated them so much.”

When people at school or at swimming commented on her weight loss, Baker told them she was dealing with stomach problems.

“I didn’t want to be known as that sick kid,” she said.

Her health began to stabilize after her treatment was changed to incorporate monthly intravenous infusions that consumed most of two days, including one for recovery. But after a few years, the infusions ceased to be effective, and Baker began a regimen she continues to follow that includes giving herself biweekly injections in the abdomen.

As Baker sought to manage the disease, training through bouts of stomach cramps, nausea and diarrhea, her parents and older sister, Rachel, strained under the weight of her struggles. Kimberley Baker sometimes excused herself to take a shower just so she could release the tears that she held back in her daughter’s presence. Rachel, who swims at Washington & Lee University, struggled to understand why the disease had targeted her sister and not her.

“Of course, I’ve thought ‘why not me?’” Baker’s sister wrote in an email. “It’s hard to watch someone you love suffer, but especially in this case, since we’re close in age, do the same sport, and she was so good while I was never going to go to the Olympics. So it seemed like I should be the sick one, not her.”

Baker’s determination sometimes makes her a difficult patient. It was with great reluctance that she agreed to limit her training to one pool practice a day. Her parents, doctors and coaches have all grown exasperated trying to persuade her to back off during training, or to forgo it altogether, when she is experiencing Crohn’s flare-ups.

“It was always very challenging to get Kathleen not to swim,” said Dr. Clifford, her pediatrician. “It felt like punishment to her.”

Despite spending, as Baker described it, “a lot of high school and my childhood in doctors’ offices,” she steadily climbed the competitive ladder. She won four medals at the 2013 world junior championships and finished second in the 200-meter backstroke at the senior nationals the next summer. That qualified her for the 2014 Pan Pacific Championships and the 2015 World Championships in Kazan, Russia.

In March, as a freshman at the University of California, Baker placed second in the 200-yard individual medley at the N.C.A.A. Division I championships but struggled to manage the cumulative stress from the Pacific-12 Conference championships and the N.C.A.A. meet. As a result, she chose to skip the 200 backstroke at the trials and concentrate on the 100.

The eight-contestant field in the final included the 2012 Olympic gold medalist Missy Franklin and Natalie Coughlin, a former world-record holder in the event. Baker set a personal best of 59.29 seconds to finish 27-hundredths of a second behind the winner, Olivia Smoliga.

When Dr. Kappelman, in North Carolina, found out that Baker had made the Olympic team, he said he called his wife and his parents and then stepped outside his office and announced the news “as if an amazing thing had happened to my own child.”

Baker’s experience on other international trips has made her adept at filling out the medical forms required by the World Anti-Doping Agency and packing her medical kit, including syringes and extra dosages of her medicine in case of emergency. The super bacteria in the waters off Rio do not worry her; Baker knows from gastrointestinal disorders.

“There’ve been times where I’ve said, ‘There’s no way I’m going to go on an international team,’ but somehow it’s worked out,” said Baker, who reported this week to a pre-Olympic training camp in San Antonio. “I’ve gotten healthy enough to swim well.”

Well enough to grace the biggest international stage in sports.

“What this means to me,” Baker said, tearing up again, “is on a whole ’nother level.”

That is some really inspiring news!