An unforgettable plateau

THE DUBLIN tennis coach who reached the summit of Mount Everest last month has raised €20,000 in support of lung transplants for cystic fibrosis patients.

Cian Ó Brolcháin’s experience in tennis-coaching a young boy diagnosed with cystic fibrosis inspired him to plan the Himalayan expedition. Ó Brolcháin had noted the young tennis student had “amazing perseverance”, in spite of his condition.

“People climbing at altitude feel similar effects for that short period compared to those cystic fibrosis sufferers who live with this all the time at sea level,” he said.

Ó Brolcháin (pictured above in blue on the summit of Everest) was one of three Irish people to reach the world’s highest summit during a season in which 10 people, including at least three Sherpas, died and a number of Sherpas were injured.

There were an estimated 548 summits during the season from both sides of the mountain, with most of the fatalities occurring during the weekend of May 19th/20th on the southern side, from Nepal.

Ó Brolcháin described in his post-summit blog how he passed dead climbers during the latter stages of his ascent on the southern route, which was supported by Sherpa Thundu and colleagues employed by the Jagged Globe commercial expedition.

“My body was telling me that this was not a place for human beings to be in,” he noted, when above 8,000 metres in the so-called “death zone”.

However, he recalled that when he reached the summit plateau on May 25th, “to look at the curvature of the Earth and stand on the highest point was an experience I’ll never forget”.


Pharmaceutical company Pharmaxis (ASX: PXS) today welcomed an announcement by the Federal government that Bronchitol will be listed on the Australian Pharmaceutical Benefits Scheme (PBS) for the treatment of cystic fibrosis.

The Minister for Health Tanya Plibersek has announced Bronchitol will be reimbursed for the treatment of cystic fibrosis (CF) patients, including children older than six years, who cannot use or are nonresponsive to medicines already listed on the PBS.

Dr Alan Robertson, the CEO of Pharmaxis said: “Cystic fibrosis is a challenging disease to treat and Bronchitol represents the first new drug ever listed on the PBS to tackle the fundamental problem responsible for loss of lung function. We are pleased that this innovation will shortly be available to patients through the Pharmaceutical Benefits Scheme and look forward to monitoring the impact of Bronchitol on people’s lives over the coming years. This reimbursement decision is a testament to the dedication of the many people involved in developing Bronchitol for cystic fibrosis and we welcome the news.”

Mr David Jack, CEO of Cystic Fibrosis Australia said: “New therapeutic advances are desperately needed and the PBS listing is excellent news. I am pleased for the CF Community that a product of Australian research and innovation has brought a significant advance in patient care. Improving lung function and preventing lung infections are key to maintaining good health, so new treatment options have the potential to make a real difference in the lives of CF patients.”

When listed, the approved price of Bronchitol will be $31.00 per day.

More than 600 cystic fibrosis patients were part of two large scale clinical trials of Bronchitol. The clinical trials were managed by Pharmaxis which coordinated studies in 95 hospitals and CF centres throughout the world.

Bronchitol is approved for marketing in Australia and Europe and a New Drug Application has been lodged with the FDA seeking marketing approval in the USA.

Eleven new drugs added to pharmaceutical benefits scheme (PBS)

Federal Health Minister Tanya Plibersek says 45,000 people will benefit from cheaper medicines following the addition of 11 new drugs to the pharmaceutical benefits scheme (PBS).

The new listings include a treatment for Australians with cystic fibrosis delivered via an easy to use portable inhaler.

“Mannitol can be used by patients, including children older than six years, who cannot use or are non-responsive to medicines already listed on the PBS,” Ms Plibersek said of the cystic fibrosis treatment.

It reduces the amount of mucus build-up in sufferers’ lungs.

Other medicines added to the PBS include treatments for age-related macular degeneration, rheumatoid arthritis, osteoporosis, Parkinson’s disease and bone marrow, prostate and kidney cancers.

Ms Plibersek announced on Sunday the government had also agreed to increase the price of six medicines already listed on the PBS

Patients driving direction of new drug research

Scott Martin’s son was still a newborn when nurses began to suspect the baby had hemophilia. The diagnosis sent Martin and his wife into a tailspin for about six months – then they began searching for treatment.

Three years later, frustrated by the lack of options, Martin, a Texas energy executive, pooled his wealth with John Taylor, a New York financial services executive whose own son is a hemophiliac, to launch a biotechnology firm, now based in Cambridge, focused on discovering a cure for the bleeding disorder.

“I can’t tell you how many times we’ve gone out to try to raise money from third parties who said, ‘You guys are crazy,’ ’’ said Martin, noting his and Taylor’s sons are constant motivators. “[But] you kinda gotta be crazy.’’

Lorraine Heidke-McCartin of Hanson led a protest of FDA policies outside the Biotechnology Industry Organization’s conference in Boston Tuesday.

Lorraine Heidke-McCartin of Hanson led a protest of FDA policies outside the Biotechnology Industry Organization’s conference in Boston Tuesday.

Martin and Taylor are among the many patients and their families taking an increasingly larger role in drug development, inspiring new treatments, working closely with pharmaceutical companies, matching patients with clinical trials, paying for research, and lobbying to speed drug development.

In doing so, patients are pushing their diseases into the limelight and fundamentally changing the way the biotechnology and pharmaceutical industries, as well as the government, approach drug creation and approval, and patient care.

Patients and patient groups have taken high profiles at the Biotechnology Industry Organization convention in Boston this week, appearing on panels, protesting regulatory policies, and hobnobbing with pharmaceutical executives to press for more investment and research into new drugs.

The companies appear to be listening. Major firms such as Biogen Idec of Weston, Pfizer Inc. of New York, and French pharmaceutical giant Sanofi, the parent of Genzyme Corp. of Cambridge, have agreed to partner on several initiatives with patient groups such as The Michael J. Fox Foundation for Parkinson’s Research.

“There has not been a time that companies paid as much attention to these patient groups and patients,’’ said Margaret Anderson, executive director of FasterCures, a think-tank in Washington with a goal of accelerating medical developments. “There is a stark realization that no one is going to get where they need to go unless there is collaboration.’’

For decades, patients and their families were largely spectators as pharmaceutical companies, regulators, and research foundations decided which drugs would be developed and which diseases would be targeted. But that changed with the AIDs epidemic of the 1980s and ’90s, when victims and activists took to the streets and the halls of Congress to press government and pharmaceutical companies to do more to treat the disease, then a virtual death sentence

The activists bolstered their case by becoming experts on HIV and AIDS, able to converse with doctors and drug developers about clinical trials and the federal approval process.

“What the AIDS activists did was they broke the barriers down to let [patient] groups and this type of expertise into the room,’’ Anderson said.

The AIDS activists paved the way for advocates like Pat Furlong, whose two sons died of Duchenne muscular dystrophy in the mid-1990s. When they were first diagnosed with Duchenne at ages 4 and 6, Furlong borrowed $100,0000 to finance research, pretended to be a doctor to nab meetings with experts on the disease, and staked out pharmaceutical executives to beg them to find treatments.

In 1994, she founded Parent Project Muscular Dystrophy, a nonprofit advocacy group that invests in drug research and clinical trials for the disorder, a genetic defect that causes muscles to weaken over time for lack of a certain protein. In the last decade, the nonprofit has raised and spent about $20 million to build a registry of patients, press companies to develop better drugs, and design clinical trials.

“The human spirit will do what it needs to do to triumph,’’ Furlong said. “I protect the people that I love. It just so happens that my family has grown to include the whole Duchenne community.’’

Drug companies increasingly see such patient communities as important components of their business strategy. Genzyme pioneered patient-pharma relations as it created drugs to treat rare enzyme deficiencies. Genzyme works with patient groups to lobby government officials in various countries to make sure its expensive drugs – which can cost hundreds of thousands a year to treat a single patient – are covered by insurance or subsidized when necessary.

One of the company’s first successful drugswas developed based on work spurred by a father looking to cure his children of Pompe disease – a story chronicled in the Harrison Ford movie, “Extraordinary Measures,’’ based on a book by Wall Street Journal reporter and former Globe staffer Geeta Anand.

“Being patient-centric isn’t just talking about patients,’’ said Jamie Ring, the company’s senior director of global patient advocacy. “It’s a company’s willingness to be challenged by patient communities [and when issues arise] being willing to change course.’’

Patients and their advocacy groups also played a large role in the development of a highly effective treatment for a rare form of cystic fibrosis by Vertex Pharmaceuticals of Cambridge. The nonprofit Cystic Fibrosis Foundation provided the company with millions of dollars – much of it raised by Boston businessman Joe O’Donnell, whose son died of cystic fibrosis – to help finance research, development, and clinical trials.

The drug, Kalydeco, was approved by the federal Food and Drug Administration this year.

The Michael J. Fox Foundation is following a similar path, providing money to biopharmaceutical companies to accelerate the development of new drugs. The foundation has benefited from the high profile of its founder, television and movie star Michael J. Fox, who has Parkinson’s, said Todd Sherer, the foundation’s chief executive.

“Michael’s profile was really important in getting attention to Parkinson’s, not only drawing research funding, but researchers,’’ Sherer said.

Patients and their families are becoming not only partners with drug companies, but also political activists. Breast cancer survivor Lorraine Heidke-McCartin and her husband Phil McCartin, for example, lead a group of activists pushing federal regulators to speed up the approval process for experimental cancer treatments.

On Tuesday, the McCartins organized a demonstration that drew about two dozen people outside the BIO convention at the Boston Convention & Exhibition Center to protest FDA policies that they say keep cancer victims from new drugs that could save their lives. The biotech and pharmaceutical industries have also been critical of how long it can take to approve new drugs.

“We want flexible treatment and informed choice,’’ said McCartin, whose wife was diagnosed with an aggressive form of breast cancer in 2006.

An FDA spokeswoman said the agency has sped up its drug approval process in the last several years, while still ensuring the drugs are safe.

Still, even at its fastest, drug development can take years. Martin and Taylor, whose sons have hemophilia, launched their firm, Inspiration Biopharmaceuticals, in 2006, but haven’t yet brought a drug to market.

The firm, which employs about 60, hopes to have its first product on the market this year or next, and is conducting clinical trials on a second treatment.

Taylor laughed a bit as he recalled his journey to this point: learning about his son’s condition, making friends and acquaintances in the hemophilia research world, and finally partnering with the Ipsen Group of France to pursue the drug treatments the company is developing.

And how does his son feel about his dad’s endeavor?

“My son [still] can’t believe it, of course,’’ Taylor said.

By Erin Ailworth|  Globe Staff    June 20, 2012


Cystic Fibrosis Worldwide Announces New Board President

Worcester, Mass. (June 20, 2012) –Cystic Fibrosis Worldwide (CFW) announces the appointment of Terry Stewart as board president. Mitch Messer was formally the President, serving since June 2005. The announcement was made at the Annual Meeting of the Members at the European CF Conference in Dublin Ireland on June 5th.

Terry Stewart, the retired CEO of CF Australia (CFA), aims to enhance CFW’s mission by
constructing internal development and improving fundraising and program
efforts. Stewart has served as the CEO of CFA for 12 years and has been a CFW
board member for 5 years. While serving at CFA, he has implemented and managed
successful programs such as 65 Roses Day, The Great Escape, and The National
Great Strides. Stewart has a strong sense of the CF community and has personally
helped a number of its members to get involved in activities that interest

Mitch Messer served as CFW President and Treasurer since June 2005, and he has worked in the
non-profit sector for 26 years. He also serves on several other boards and committees,
such as Cystic Fibrosis Australia and Australian Cystic Fibrosis Research
Trust. Some of his career highlights include meeting with the Palestinian
Minister of Health, negotiating a contract with the Health Department to allow Cystic
Fibrosis West Australia (CFWA) to provide comprehensive home care for people
with CF, and being involved in the development of the niche at the QEII Medical
Centre in Nedlands, which houses over 12 community-based organizations.

CFW has had much success working with Messer as president and looks forward to the fresh ideas and strategies Stewart
will bring to CFW. In addition, CFW welcomed a new board member Aisha Ramos
from Spain. Aisha Ramos will work to help CFW develop program in Latin America
and reach out to the Spanish speaking CF Community internationally.

Cystic Fibrosis Worldwide (CFW) is a non-profit organization located in Massachusetts
and Turkey.  CFW is dedicated to improving quality of life and life expectancy for people living with Cystic
Fibrosis (CF), a genetic life-threatening disease. Since inception in 2002, CFW
has used a variety of programs to aid the CF community in Massachusetts, across
the US, and throughout the world.  With 67 member countries, CFW’s primary function is to spread information about the
disease among scientists, medical professionals, caregivers, patients, and
families and to act as a platform for the international exchange of information.
In addition, CFW helps member countries, both developed and developing, by
providing capacity-building tools in areas of governing, operating, and

To learn more about CFW, please visit



CF Worldwide has found a great new website and we want to share it with you!
WikiCF is an open, free website for and by people living with CF, their families and friends. WikiCF is a place to connect and network. You can exchange practical information with others, from the latest treatments to tips on living with CF. Like on any wiki, once registered, anyone can add new content, link to other sites or simply edit and rate existing content and share it with friends. All content is reviewed by professionals to ensure it is of the highest quality. Don’t miss the chance to add your distinct voice helping people with CF fight for a better life.

Pharmaxis debuts Bronchitol in EU

Pharmaxis has officially launched its Bronchitol spray in the UK and Germany, and presented more trial data showing its efficacy.

Pharmaxis has used this week’s European Cystic Fibrosis Meeting in Ireland to launch its flagship Bronchitol spray in the UK and Germany.

Bronchitol is designed to reduce the amount of mucus build-up in the lungs of patients with respiratory conditions. It consists of a proprietary formulation of mannitol, delivered though an inhaler.

To coincide with the launch, the company presented phase III trial data indicating that the product can be effective at reducing exacerbations in patients with cystic fibrosis.

The data from two 2009 trials shows that exacerbation incidences decreased by 29% in the overall population, by 24% in adults, and by 59% in adult patients who had also shown an increase in lung function on bronchitol.

Sputum weight in adult patients was also increased at both six and 14 weeks, and improvements in lung function were sustained out to 12 months.

Principal investigator Dr Moira Atken said the results of the trial are encouraging. “There remains a significant need for new treatments in cystic fibrosis and the results [suggest Bronchitol] is a very useful drug,” she said.

Pharmaxis gaining marketing approval for Bronchitol throughout the EU in April.

The product is making its debut in the UK and Germany as there is no requirement to receive pricing and reimbursement approval before launching in these markets.

Earlier this month, the company published the retail prices for the product in the two markets – £16.55 ($25.99) per day in the UK, and €35.65 ($45.28) per day in Germany. The UK Department of Health has provided notification that the UK price is acceptable.

But the UK National Institute for Health and Clinical Excellence (NICE) has issued a preliminary opinion that Bronchitol cannot yet be considered a cost-effective use of NHS resources.

Pharmaxis CEO Dr Alan Robertson announced the NICE decision on June 1, but pointed out that the verdict is not final, and that no cystic fibrosis drugs available in the UK other than Bronchitol have ever been reviewed by the institute.

‘Docs said we’d never make it to five’: Incredible twins with cystic fibrosis still going strong at 48 – experts astonished at their survival

Defiant: Cystic Fibrosis suffering twins Michelle (right) and Christina 

The moment the twins ­arrived in the world their future already looked bleak.

Michelle and Christine Ayres were born with cystic fibrosis… and doctors told their parents the sisters would be unlikely to live to their fifth birthday.

Heartbreakingly, the advice to the family was to “go home and cherish the time you have left”.

Yet today, nearly half a century later, the girls have defied all the odds to become the oldest living twins in the world with the disability.

They take 52 tablets a day to cope with the illness. But Michelle and Christine say it’s not the medicine which has kept them alive – but the ­unbreakable bond between them.

“We are each other’s lifeline,” ­Christine says. “We have a sixth sense and know when the other needs help.

“We have a will to live and survive which has kept us going and we are not about to give up fighting now.”

That remarkable will has allowed the girls to share many landmark moments in life. They were inseparable in school, their first job was at the same firm, they were bridesmaids at each other’s ­weddings and, when their condition meant they couldn’t have children, both adopted daughters.

Now 48, Michelle and Christine are speaking out to raise awareness about cystic fibrosis, which affects 9,000 people in Britain.

The illness clogs the organs with a thick, sticky mucus which makes it hard to breathe or ­digest food. Sufferers are prone to ­infections and even a simple cold can prove fatal.

The twins need weekly check-ups and in recent years Christine’s condition has got worse. Both realise they won’t live into old age.

Christine, from West Sussex, says: “The diagnosis when we were born was ­really bleak because in 1964 doctors knew hardly anything about the illness.

“Our parents Nadine and Howard basically wrapped us in a big blanket during the early years. No one with even the slightest sniffle was ­allowed within 100 yards of us.

“Mum gave up everything to care for us. And our older brother Nigel was great too. It was the key to us surviving.”

When the twins hit their teens they made a pact to look after each other. “And we made a promise that the illness wouldn’t ruin our lives,” says Michelle.

“We both ­instinctively know when the other is having a bad day. It’s a sixth sense which has kept us both safe.”

Yet there have been moments of unbearable heartache. Six years ago Michelle’s health took a turn for the worse. Medics wrongly diagnosed a bacteria on Michelle’s lungs which often kills cystic fibrosis sufferers.

Because the condition is highly ­contagious the pair weren’t allowed to see each other for a year.

“It was the hardest 12 months of our life,” Christine said. “The only way we could see one another was if we stood at opposite ends of the garden at our parents’ house. When we found out it was ­wrongly diagnosed we were distraught. It’s a year we’ll never get back.”

And in the past few months Michelle has worsened. She needs oxygen 24/7 and has to take 52 tablets a day.

It is highly unusual for cystic fibrosis sufferers to live beyond the age of 50. But the twins refuse to be downbeat

“We have always been told we couldn’t – couldn’t expect to live long, have children, travel,” says Christine. “But together we’ll keep on fighting because that’s what we were born to do.”

UCSF advances fight against cystic fibrosis

Six-year-old Tom Rolefson is prone to tonsillitis.

When he’s suffering from a sore, swollen throat, feeling uncomfortable and fatigued, he sometimes says to his twin sister, “Taylor, you’re so lucky you don’t have this.”

And Taylor, who has cystic fibrosis, agrees. Although she may be the sicker of the twins – her brother doesn’t share her disease – she rarely acts the part.

“We’re raising them the same, and we try not to make a big issue out of the CF,” says the twins’ mom, Kathy Rolefson.

But it’s not easy.

Taylor, whose family lives in Piedmont, is a patient at UCSF’s cystic fibrosis center, where doctors have adopted aggressive treatment protocols for keeping the inherited disease under control. She wears a special vibrating vest for half an hour, twice a day, to shake up the mucus in her chest and keep her lungs clear. She regularly uses a nebulizer to deliver antibiotics directly to her lungs and fight off any bacterial infections that may be brewing.

She takes more than two dozen pills every day to control the symptoms of her disease. “And that’s when she’s healthy,” her father, David Rolefson, said.

And so far, Taylor is mostly healthy.

Cystic fibrosis, which affects about 30,000 people in the United States, is a deadly disease that causes the mucus and other secretions of the body to become sticky and thick. Those secretions then clog up the passageways of the lungs and other organs, causing repeated infections, lung damage, intestinal blockages and poor weight gain.

Drug helps a few

This year, the U.S. Food and Drug Administration approved the first drug to treat the underlying cause of cystic fibrosis, but it helps only a small percentage of patients who have a specific gene mutation. Otherwise, there have been very few medical breakthroughs in the treatment of cystic fibrosis.

And yet, the life expectancy of babies born with the disease has almost doubled in just the past two decades – from 21 to 38. That improvement is due almost entirely to more refined medications and tools used to treat cystic fibrosis, and an aggressive push by doctors and patients to battle the disease before it can do the worst damage.

“The advances have occurred because of better understanding for basic things. Technological fine-tuning has really allowed treatments we were always using to become more useful,” said Dr. Carol Conrad, director of the Pediatric Lung and Heart-Lung Transplant Program at Lucile Packard Children’s Hospital at Stanford.

“The prognosis for a cure is good, although it’s not as quick as we would like,” Conrad said. “But it used to be the most depressing thing to me when I was a resident, to see these teenagers come in and die. And these days, I have a clinic full of healthy patients.”

At UCSF, aggressive treatment has produced striking results over the past decade. The medical center was once below the national average when it came to patient reports on lung function and other tests for cystic fibrosis. Now, in most categories, UCSF is just as strong as the top 10 cystic fibrosis centers in the country, said Dr. Dennis Nielson, director of the Pediatric Cystic Fibrosis Center at UCSF.

UCSF doctors now see patients more often – aiming for every 10 weeks, instead of every three months – and they prescribe antibiotics more freely, a technique that’s important for cystic fibrosis patients who are prone to bacterial infections in their lungs.

Preventing damage

The key is to do everything possible to prevent lung damage, which can’t be reversed.

“We have taken the attitude that we just don’t cede any loss of lung function easily,” Nielson said. “We take it personally, to some extent, and we don’t give up easily. We’ll keep pounding away, literally, with chest therapy and antibiotics.”

It was that aggressive stance that landed Taylor in the hospital for 10 days when she was a baby. She’d gotten sick with the flu, her parents said, and her doctors at UCSF didn’t want to take any chances with her lungs so they kept her under strict care.

And already Nielson has talked about giving Taylor a feeding tube to help increase her calorie intake. Like most kids with cystic fibrosis, Taylor has problems eating enough food to keep her weight up – her parents will slather her vegetables with big slabs of butter, and they let her eat pretty much anything she wants.

“There was a period where she wouldn’t eat anything, and (a feeding tube) was one of the aggressive strategies they were talking about,” David Rolefson said. “I’m glad that we chose an aggressive doctor who’s going to push us when we need to be pushed.”

David Rolefson’s brother, Tom, died of cystic fibrosis when he was just 21. Having grown up seeing the damage done by the disease, David Rolefson was devastated by the diagnosis in his daughter.

“I did my grieving when we got the news, and then I put it on a shelf,” he said. “I see CF as a diagnosis with real hope now.”

Kathy Rolefson, in some ways, seems to have taken the news harder. She’s keenly aware of the life expectancy number hanging over her daughter’s head, but, at the same time, she’s determined to give both of her children as normal a life as possible – and to keep them healthy for as long as she can.

“People try to be helpful,” said Kathy Rolefson, who has turned to her mother-in-law for much of her support in dealing with the disease. “But when your kid has a terminal disease for which there is no cure, there’s nothing to say to make it better.”

Brotherly support

As for Taylor, her biggest support seems to come from her brother. When the twins went to a friend’s birthday party recently, Tom carried Taylor’s pills in a pocket. And every day, when Taylor takes her medication and puts on the chest vibration vest, Tom announces, “It’s time for our treatment,” and sits with her.

On a recent weeknight, the kids played in Taylor’s room, taking turns cooking meals for each other in a play kitchen. Taylor sat at the table, pounding her fists and demanding her food.

“Here!” Tom said, thrusting a plate of plastic vegetables in front of her. “Eat your food!”

Taylor laughed and shook her head.

“It’s candy!” Tom said with a knowing smile.

And Taylor ate.

Read more:

Chance to win CFChef by submitting your recipes

Submit your favorite cystic fibrosis – friendly recipes for a chance to claim the title of CFChef! As a part of the 2012 program expansion, Abbott launched two new CFChef recipe contests and is calling for “Cookout” and “Back-to-School” themed recipes by June 21, 2012 for a chance to win. Anyone touched by cystic fibrosis (CF) is encouraged to enter.

More about the Recipe Contests
•   The 2012 CFChef Recipe Contests were created to identify CF-friendly recipes in two themed categories: Cookout and Back-to-School.
•   Individuals touched by CF are invited to submit their favorite original CF recipes or traditional recipes adapted for a CF diet at
•   Entries will be judged by a nutritionist, who will select the winning recipes based on nutritional value, ease of preparation and “the story” behind the recipe.
•   Each contest will have three winners (6 total), who will receive a digital scale for measuring the nutritional content of food – a great tool for any CF kitchen. Winning recipes will also be showcased in the CFChef Online Cookbook.

In addition, those touched by CF are also encouraged to complete an online survey designed to generate ideas for new program content directly from the CF community! The survey must be completed by July 20, 2012 at

Suzanne Michel, a registered dietitian affiliated with a prominent CF center in Philadelphia, is available to discuss the importance of nutrition for people living with CF, and why the CFChef website continues to be a useful tool for the community.