Meet the brave people who fought to give Cystic Fibrosis sufferers a new lease of life

At Christmas, Germany paved the way for its patients after reaching a deal with manufacturer Vertex, joining Austria, France, and the US. By then, Vertex and Orkambi had won both the prestigious French Prix Galien for the most promising rare disease medicine in 2016 and the Drug Discovery of the Year courtesy of the British Pharmacological Society. Yet despite glowing and growing proof of efficacy, efforts to reach a deal here dragged on and on forcing CF patients, family and friends to take to the streets, shout from the rooftops and march on the Dáil, sensing that their shot at securing Orkambi was in the last chance saloon.

For some, that chance, when it did come, came too late. Gráinne Golden, from Cartron Point, Sligo, succumbed to CF in February 2016, at just 21 years of age.

“There were three things she asked us to do before she died,” recalls her mother, Terri.

“Literally, with her dying breath, she asked that we continue to campaign for Orkambi, that we fight for better lives for those who live with CF, and that we campaign for opt-out [instead of the current opt-in system] of organ donation.”

And so, in memory of Gráinne, known to her friends as ‘GG’, Terri took up her beloved daughter’s campaign and took to the streets with other members of the CF community calling for the Government to fund the drug that could throw patients a lifeline.

Perhaps the most public face of that campaign was Jillian McNulty, aged 41, who had the benefit of Orkambi as part of a clinical trial in Ireland. It transformed her life.

“The year before I went on it, I was in sharp decline,” says Jillian. “It was really scary. Friends were dying, average age 28/29. I had severely reduced lung function, no energy. I had to sit down to shower. I felt death was imminent.”

She got on an Orkambi trial in St Vincent’s University Hospital. It was, she says, “like winning the Lotto”. But she couldn’t tell anyone.

“When you are on the trial, you are not allowed to speak about it publicly,” she says. “It’s part of the contract with Vertex.”

But everyone in the CF community had heard of the wonder drug. GG, who was a friend of Jillian’s, guessed she was on it.

“She’d noticed I was spending less and less time in hospital,” Jillian says. “Everyone knew the drug was there in a trial setting but people didn’t know who was on it.”

As soon as the 18-month trial ended, Jillian was cleared to speak out. She started speaking out two-and-a-half years ago — and hasn’t stopped since. It was never her intention to become the poster girl of the Orkambi campaign but that is essentially what happened. With every setback, she took to social media and to the airwaves, she contacted radio stations and newspapers, and, as time went on, she organised Dáil protests.

“I wanted to tell people about Orkambi. I wanted the CF community to see that there was hope and sometimes hope is all we have,” says Jillian.

It wasn’t all plain sailing. Some parents of CF children questioned her motivation.

“I was accused of wanting to be pictured with TDs, of wanting to get my picture in the paper,” says Jillian. “I was bullied and criticised. But it was a small minority. And when you put yourself out there, there are always going to be critics But I know why I’m doing it and I don’t care what others think.”

She was fast off the blocks when the National Centre for Pharmacoeconomics (NCPE) recommended in June last year that Orkambi not be funded at the submitted price of €160,000 per patient per annum, although it recognised the health benefits of the drugs. Cystic Fibrosis Ireland (CFI) expressed its dismay but opted not to put the boot in as it sought to give breathing space to the Government to negotiate with Vertex.

That goodwill evaporated in November amid reports that the HSE’s drugs advisory committee was set to endorse the NCPE’s position. The clamour started for intervention and Health Minister Simon Harris was forced into the debate.

Jillian says they had tried to get former health minister Leo Varadkar to back their campaign. “He seemed supportive, but he did nothing,” she says.

Mr Harris, she says, was a different ballgame. He appeared to have compassion.

The campaigners upped the ante. There were TV appearances. Dáil protests. At one stage in March, Mr Harris asked Jillian to call off a planned protest because negotiations with Vertex were at a delicate stage. The request got out and caused outrage. Campaigners were running out of patience. The negotiations had dragged on too long. People were losing heart and for others, time was simply running out.

And then the improbable happened. At a price rumoured to be €100,000 per patient per annum, the State struck a deal “in principle” with Vertex. And not only for the reimbursement of Orkambi, which could benefit 550 patients, but also for the extension of a second Vertex wonder drug, Kalydeco, to children aged 2-5, previously available to those aged six and over. And, crucially, looking to the future, the agreement will cover what are known as “pipeline drug therapies” — in other words, drugs currently in development that may outshine existing therapies or that may throw a lifeline to the 30% of the CF population that still has no drug to treat the underlying cause of the condition in Ireland.

News of the breakthrough with Vertex came in a good week for CF campaigners. It came on Wednesday so that, instead of leading a planned protest outside Leinster House, an ecstatic Jillian could be seen hugging Mr Harris on Kildare St. It came on the eve of CF’s annual fundraiser, 65 Roses Day. CFI was jubilant. Thanks to the minister were heartfelt.

Marisa Reidy, from Abbeydorney, Co Kerry, celebrated at the Munster Rugby open training session at Musgrave Park with her Munster-mad daughter Hanna O’Connell, almost seven years old, who has CF.

“We were involved in the campaign in Kerry and even though Hanna won’t get Orkambi until she is 12, her future is looking brighter,” Marisa says.

Terri Golden is celebrating too, although the victory is bitter-sweet.

“It brings a lot of emotions to the fore but I am looking forward to hearing good stories about CF patients instead of all the bad stories we normally hear,” she says. “So many others have died and gone before Gráinne.”

GG’s uncle, Declan Meaney, has organised a Easter Sunday Family Fun Day in Cree, Kilrush, Co Clare, and Terri says it will be a time to celebrate rather than mourn.

Jillian is hopeful that having access to Orkambi will spare her parents further mourning and the trauma of burying a third child.

“My brother Derek, who had CF, died in the 1970s when there were very few options for CF patients,”she says. “He was five-and-a-half. A second brother, Gary, who had special needs, also died. My Mam and Dad have had it tough and now they don’t need to worry about burying a third child.”

Next week, Jillian heads to New York and Boston for a well-deserved holiday. She will visit Vertex HQ in Boston as part of the trip, undertaken at her own expense. Previously, she provided testimony in Washington on the benefits of Orkambi to the Food and Drug Administration, the US body that regulates the drug market. She was part of an FDA advisory committee, the only person from outside the USA invited to testify. She even met the creator of Orkambi, Fred Van Goor.

What makes Dr Van Goor’s drug special is that it slows the progression of CF and significantly reduces exacerbations or sudden worsening of the condition that leads to hospitalisation.

Terri Golden hopes that, one day, instead of treating an incurable disease, a cure will be found.

“Then we change what the letters ‘CF’ stand for. Instead of cystic fibrosis, they will stand for Cure Found.”