When you’re diagnosed with a rare cancer

With few medical options, patients take their lives into their own hands

In New York City, indoor cycling is a contact sport. A few minutes before Spinning class at a midtown gym, most women are already on bikes and pedaling hard to warm up; those who didn’t sign up in advance jostle anxiously at the door, hoping for a no-show.

Amid this sea of black-clad intensity, Jennifer Goodman Linn stands out like a burst of sunlight. She has wrapped her hair with an orange bandanna emblazoned with the words Cycle for Survival and sports a bright lemon-yellow jersey. She breezes past the jockeying around her, stopping to give the instructor a hug, then smiles quietly as she settles on a bike and sets the resistance. Arms poised, she’s calm and happy as the first strains of Kanye West’s “Heartless” pulse, a woman exactly where she wants to be.

That she is here at all is some kind of a miracle. Five years ago, at age 33, the marketing executive learned she had soft tissue sarcoma, a type of cancer that attacks body tissues such as nerves and muscles and strikes only 10,000 Americans each year (compared with 200,000 breast cancer diagnoses). She has slogged through three heartbreaking recurrences, three courses of chemotherapy to shrink her tumors and four grueling surgeries to remove them. Cycling has been the one constant: She begged her doctors to set up a stationary bike in her hospital room, and when she returned to class after her first remission, bald and weakened, her instructor and fellow riders welcomed her with applause. Moved by how her sport had helped her heal, in 2007 she launched Cycle for Survival, an event in which teams of riders hit the gym and pedal for hours to raise money for rare cancers. “I realized that I could either admit defeat or use the cancer to do a good thing,” she says. “The choice seemed clear.” 

Linn’s medical journey, on the other hand, has been anything but. Her first symptoms were odd but not particularly alarming: night sweats, a chronic cough and a sudden, sharp pang in her abdomen one afternoon while she was playing tennis with her husband, Dave. “I was losing weight,” she recalls, “but my pants were tight.” Was she pregnant? No, although the newlyweds were trying. And when Linn began taking her temperature to see if she was ovulating, she found she had a fever. With her worry building after several weeks of symptoms, Linn saw her doctor, who ordered blood tests, followed by a series of scans.

When the radiologist saw the results, he bluntly informed her, “You have a big tumor in your abdomen.” Referred to a surgeon who would remove the mass — which was the size of a cantaloupe — Linn learned it could be sarcoma. Yet, like many people, she had never heard of the word sarcoma and didn’t grasp what it meant. “I know it sounds strange, but because the surgeon never used the word cancer, and because I was so young, fit and healthy, I assumed it wasn’t even a possibility. My main concern was that they take [the growth] out without doing a hysterectomy, so I could still have a baby someday,” she says. “I was in deep denial.”

Watching and waitingEven as she was wheeled into surgery, she still hoped the mass would turn out to be a uterine fibroid. Only in recovery did Linn learn that it was indeed cancer; the medical team had removed it as best they could, along with part of her colon, appendix and abdominal tissue. When she and Dave arrived for her first oncologist appointment a few weeks later, reality finally hit full-force. It was, Linn says, “the first time I had an out-of-body-scared moment.” That doctor told Linn and her husband that her odds of surviving five years were 50 percent — no better than a coin flip. Worse, there was no medical protocol for how to proceed.

“When Dave and I found out I had a rare cancer, we immediately wanted as much information as possible,” Linn says. But facts were in short supply. As with all orphan cancers, the term used for any type that affects fewer than 200,000 Americans at one time, research was limited. The “big four” cancers — breast, lung, colon and prostate, which together account for about half of all new cancer cases in the United States — receive the lion’s share of funding and attention. “With common cancers, there is more data, along with collective experience, to develop guidelines for treating these diseases,” says David G. Pfister, M.D., chief of head and neck oncology at Memorial Sloan-Kettering Cancer Center in New York City. “The more you see something, the more experienced you get at dealing with it. We know if one drug works better than another and are able to understand the course of the disease.” With orphan cancers, most physicians and patients have no blueprint. “In terms of treatment, there aren’t many patients going through what I am,” Linn says. “And with such a small pool, there isn’t much incentive for drug companies to invest in research.”

Getting a cancer diagnosis is an isolating experience under the best of circumstances. But minimal medical options and few support groups mean people with orphan cancers are apt to feel especially singled out. “It’s lonely and frustrating,” admits Linn, who has gone through a series of different chemotherapies at Memorial Sloan-Kettering. Recently, her oncologist told her she is free of measurable disease. Remission is normally cause for celebration, but Linn has been given good news three times before, only to see the cancer return each time. When she asked what came next, the answer was less than reassuring. “I don’t know,” the doctor told her. “There’s a 50-50 chance that it’s coming back. We’ll keep scanning you every 10 weeks, and if something turns up, we’ll deal with it.”

It’s the uncertainty patients with orphan cancers find most agonizing — “Watching and waiting is the hardest part,” Linn says — especially coming on the heels of baffling symptoms and catch-as-catch-can treatments. Yet despite the challenges, people with orphan cancers are working urgently — swapping advice online, pushing for more clinical trials and raising awareness through efforts such as Cycle for Survival, which is now run by Memorial Sloan-Kettering. “I needed an outlet, but I also created the organization selfishly,” Linn says. “If I leave it up to someone else to develop new therapies, it might never happen.”

Awareness brings money, which in turn fuels research, and last year’s federal stimulus package spurred new grants for the study of orphan cancers. “This is the era of orphan diseases, in large part because of the patients,” says Alexandria T. Phan, M.D., associate professor in the department of gastrointestinal medical oncology at the University of Texas M.D. Anderson Cancer Center in Houston. “Their voices are even more important than doctors’, because it’s the patients who get the rest of the world excited.” In the process, they are changing the destiny of almost anyone with cancer, uncommon or not, creating new treatments and forging a path to survival where none existed before.

 

Rare warbler found in Afghanistan

Scientists say they have for the first time discovered a breeding site for the world's least-known bird species.

Little is known about the large-billed reed warbler, but researchers have found a thriving flock of the birds in a remote corner of Afghanistan.

Robert Timmins from the US based Wildlife Conservation Society discovered them when he was conducting a survey in the area.

The tiny brown bird, first spotted in 1867, has not been seen since 2006.

Mr Timmins says one of the reasons why so little is known about these birds is that they are often mistaken for other types of warblers and they are a very private species.

"Reed warblers are very good at hiding and they don't like to be seen. They usually like to skulk in thick vegetation", he said.

Mr Timmins taped the rhythmic song of these reed warblers, and with colleagues used the recording to entice other members of the colony from their hiding places.

DNA analysis confirmed this was a distinct breeding population of the large-billed variety.

While the scientists are excited by the discovery, they are concerned about the long-term survival of these birds.

Ironically the ongoing war and the remoteness of their location have helped their survival - but according to Mr Timmins, this might change.

"We don't wish a war-like situation on anybody. But once peace comes and development starts, you really do have to think about what will happen to the natural environment," he said.

As well as a flood of new information about the large-billed reed warbler, this discovery will hearten researchers that species can survive in even the most difficult of environments - there may well be other birds out there that have been presumed extinct, but are in fact surviving in some remote corner.

Arctic polar bears imperilled by man-made pollution

The long term survival of polar bears is being threatened by man-made pollution that is reaching the Arctic.

This conclusion comes from a major review of research into how industrial chemicals such as mercury and organochlorines affect the bears.

The review suggests that such chemicals have a range of subclinical effects.

When added together, these can have a dramatic and potentially fatal impact on the bears' bones, organs and reproductive and immune systems.

The review, an analysis of more than a decade's research into the effect of pollution on bears, is published in the journal Environment International.

A range of man-made pollutants reach the polar Arctic region, carried there in the air and water.

These include toxic metals such as mercury, organohalogen contaminants (OHCs) including organochlorines, and polybrominated diphenyl ethers (PBDEs) and perflourinated compounds (PFCs), which are used industrially in insulating fluids, as coolants, in foams and electronics and as pest control agents.

Such chemicals are often fat-soluble and accumulate in the fat of many animals, which are then eaten by top predators such as polar bears.

These top predators are then exposed to increasingly concentrated levels of toxins.

But the impact of these toxins on polar bears has been difficult to measure, with the only previous studies done by the Arctic Monitoring and Assessment Programme in 1998 and 2004.

That is party because it is logistically difficult to take many and repeated samples of blood or tissue from live polar bears.

Also, only free-ranging healthy animals that are not clinically sick tend to be sampled, making the overall population appear to be healthier than it already is.

ILL EFFECTS Shrinking sexual ability: studies have found correlations between levels of OHCs and smaller and deformed sexual organs in male and female bears Overactive organs: organochlorines increase the activity of liver enzymes, while mercury boosts stress hormones in the blood Mercury damages the bears' nervous systems PCB exposure may lead to decreases in bone mass density

So veterinary scientist and polar bear expert Dr Christian Sonne, of the Department of Arctic Environment at Aarhus University in Denmark, conducted the first review of all pertinent research on the health effects of such contaminants on polar bears.

Previously, Dr Sonne was part of a team of researchers which found that "stress" linked to pollutants and shrinking sea ice appeared to be shrinking polar bears.

His new analysis includes the results of more than 200 organ and skull tissue samples taken from 80 bears in East Greenland between 1999 and 2009, as well as repeated measurements and observations of bears living in the Svalbard archipelago, Norway.

These studies reveal a number of ill-effects associated with industrial pollutants.

However, such studies can only show that contaminant levels are correlated with ill-effects, not that they cause them.

Bears and dogs

So Dr Sonne investigated the direct impacts of Arctic pollutants on two other top predators living in the region, Norwegian Arctic foxes and Greenland sledge dogs.

In 2003, researchers started a two-year study in which they fed Arctic foxes clean or contaminated whale blubber. One fox of a pair of brothers was fed clean food as a control, while the other brother ate contaminated food.

Having eliminated all other influences, such as gender and age, the researchers showed that foxes exposed to environmental levels of pollutants do suffer harmful effects.

For example, PCBs trigger decreases in bone density and damage the liver, mercury and organochlorines cause renal lesions, while OHCs alter the amount of vitamins circulating in the blood.

Similar effects were found in comparable studies on Greenland sledgedogs.

The maximum sea ice extent is declining by about 2.7% per decade

"Polar bear studies are correlative, but that is not conclusive as being 'cause and effect'," explains Dr Sonne.

"So including dogs and foxes as model species is important [because] you use species that are much like polar bears, and the species were exposed to similar food items as polar bears."

The impact on the bears is likely to be greater even than those effects which show up in studies.

"It is really important to understand that all organ systems are tied together," says Dr Sonne.

So individual pollutants may only have subtle, non-clinical effects on particular parts of a bear's body.

But in concert, the overall impact can be devastating, reducing an individual bear's ability to hunt, reproduce and resist disease.

"After being very sceptical, I now feel that the impact on bears may be true," says Dr Sonne.

Climatic impact

He also concludes that climate change will exacerbate the impact of pollutants on the bears.

As the level of sea ice declines with warming temperatures, polar bears are fasting for longer.

That may mean they eat fewer seals and therefore less pollutants overall.

But they will have to burn fat to compensate.

That will release greater concentrations of toxins from their fat stores into their blood, says Dr Sonne.

This will cause further illness, weakening bears that will already be in poorer condition and may be exposed to new and more virulent pathogens capable of surviving in a warmer Arctic.

Dr Sonne's research is published a week after another separate study published in the journal Arctic showed that polar bears in the southern Beaufort Sea in the Arctic Ocean are occurring more frequently on land and open water, and less on the ice.