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Saskatoon family waiting for access to cystic fibrosis treatments

Saskatoon family waiting on new deal for access to cystic fibrosis treatments
WATCH: A Saskatoon family awaits word for access to new treatments for their two boys who have CF.

A Saskatoon family waits on a potential deal that would bring access to new cystic fibrosis (CF) treatment drugs in Canada.

CF is the most common fatal, inherited disease affecting young Canadians, according to health officials. Beginning at birth, a build-up thick mucus in the body causes havoc in many organs, including the lungs.

Currently, negotiations between the pan-Canadian Pharmaceutical Alliance (pCPA) and an American company, Vertex Pharmaceuticals, are ongoing for CF treatments in Canada. Two previous attempts to come to an agreement for the treatments failed to materialize in 2016 and 2019.

According to an article on the Cystic Fibrosis Canada website, the medications being negotiated include Orkambi and Kalydeco. Essentially, it says, “these drugs target the basic defect from specific mutations that cause CF.” “The newest drug called Trikafta has the potential to treat 90 per cent of people living with CF.”

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The article said Trikafta is currently not part of the negotiations. In the United States, the drug has been fast-tracked after being called a breakthrough treatment. Orkambi and Trikafta treat a larger portion of CF patients. They are over 2,000 different mutations of CF at this point.

CF patients would take them twice a day, treating the basic defects of the disease.

Read more: Cystic fibrosis cases in Saskatchewan on the rise, according to new report

It’s welcome news to the Nechvatal family. Two of their four children — Dominic, 11, and Benjamin, 3, — have CF.

Parents Shaun and Katarina recall the moment they found out Dominic was diagnosed with CF in 2008.

“It was really just shock(ing), (that) was the first reaction,” Shaun said.

The Nechvatals didn’t know they were carriers for the disease at the time; they later learned one in 25 Canadians is a carrier for CF.

Dominic was the first newborn in Saskatchewan to be diagnosed through the newborn screening program, which allows treatment and therapies to begin before symptoms appear, greatly improving health outcomes.

Shaun said the learning curve for the daily regime required was steep. They were and still are, heavily supported by the boys’ CF team. The pediatric CF clinic team at Saskatoon’s Royal University Hospital (RUH), now at the Jim Pattison Children’s Hospital, provides education and specialized care for babies, children and youth with CF.

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Adults with CF in the province receive their care from experts in the adult CF clinic team at RUH.

“(The earlier) we found out the better for Dominic (and Ben),” Shaun added. “So, we started his percussion therapy and quickly thereafter his enzyme therapy with his meals so he can digest nutrients.”

The two Nechvatal boys complete a total of four hours of CF therapies each day when they are healthy; more when they are sick. These include inhaled medications, chest physiotherapy to clear mucus. In addition, they take copious amounts of pills to help digest nutrients and fight frequent bacterial infections.

 

Benjamin Nechvatal receiving daily nebulized medications, age 4 months.
Benjamin Nechvatal receiving daily nebulized medications, age 4 months. Katarina Nechvatal / Supplied
Dominic doing CF physiotherapy (airway clearance).
Dominic doing CF physiotherapy (airway clearance). Katarina Nechvatal/ Supplied
Dominic, 11, with one month's supply of CF meds.
Dominic, 11, with one month's supply of CF meds. Katarina Nechvatal/ Supplied
Benjamin, 3, with one month's supply of CF meds.
Benjamin, 3, with one month's supply of CF meds. Katarina Nechvatal/ Supplied

“You have to take your pills every time you eat since your pancreas is blocked with mucus and it doesn’t spit out enzymes,” Dominic explained.

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“You have to take them in little pills.”

Domini said he has to have snacks at every recess in school. The food has to contain a lot of fat and protein because his body does not absorb nutrients as well as someone without CF.

Their sisters — Eva, 15, and Anika, 14 — sometimes help them do their breathing exercises as they are required to do them twice a day. The girls have learned that being the sibling of a person with CF means having much less access to their parents, such as helping with schoolwork or spending time together due to high demands on their time for CF therapies.

Read more: Saskatchewan fundraisers go virtual amid COVID-19 restrictions

Cystic Fibrosis Canada chief scientific officer Dr. John Wallenburg said these new drugs are called precision medicines, which correct the basic defect in CF patients.

“There is a protein that’s not made properly and these drugs go in and they help it work more normally,” Wallenburg said.

“It means now you are taking a drug, it goes through your body and it’s fixing the problem at its root.”

He said while Kalydeco was approved for use by Health Canada in 2012, it only works for roughly five per cent of the population. Orkambi, he says, works for about 50 per cent of the CF population.

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Wallenburg said that over time, the lung function of CF patients steadily decreases.

He added these drugs are not available to the entire CF population at this point.

“We are pretty much the last country of the OECD20 (Organisation for Economic Co-operation and Development) who is looking at this drug,” he said.

“Canada isn’t a country that has a path for drugs for rare disorders and (CF) is a rare disorder. You can’t really compare them and really treat them for drugs that are for more common disorders.”

Wallenburg said the difference in negotiations this time around is both sides are highly motivated to get a deal done sooner than later.

Read more: Lawn signs honour families affected by cystic fibrosis as fundraising, advocacy move online

Canadian Cystic Fibrosis Treatment Society founder and chair Chris MacLeod has been on Kalydeco since a hospital stay in 2012. The drug not only saved his life but brought his lung capacity up from roughly 30 per cent to around 70 per cent.

It worked on him because the type of genetic mutation he has is treatable with the drug, but it only works on select patients.

“The biggest difference is is you are alive, functioning and working on whatever it is you want to do in life,” MacLeod said.

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“You are fully engaged in the game of life.”

The 50-year-old said the drugs have the potential to turn CF from a terminal disease to a chronic condition.

In Dominic’s case, Shaun said, he is doing a lot of treatments on a lot of different medications which are really a band-aid measure and not a cure. He added the disease continues to progress despite all their hard work.

“While Dominic does his treatments every day, and he does them diligently as much as an 11-year-old can, but the disease is still progressing,” Shaun said. “At the end stage, he may need a double lung transplant. His lung function could decrease drastically.”

“We are in survival mode for it. Once he has access to these gene modifying therapies that are treating the root cause of the disease.”

“The work that CF does is in our country for those with CF, in the words of one of our CF doctors, who has said for quite some time, ‘people that support Cystic Fibrosis Canada do so because we are winning.'”

Read more: Cystic Fibrosis Canada asks Saskatchewan for help in advocating potential life-saving drug

He says while they wait for new treatments to become available in Canada, the work being done for those with CF is as outstanding as it can be and provides hope.

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“In the words of one of our doctors, who has said for quite a long time, people who support the work of (CF) should do so because we are winning,” Shaun said.

“We’ve seen the progression of research for these drugs that are being developed to treat the root cause.”

Hoops for Hope CF fundraiser

For the past decade, Shaun and Katarina Nechvatal have hosted the annual Hoops for Hope event, a three-on-three basketball tournament featuring teams from across the province. Its purpose is to not only provide a day of fun and sport but to raise funds and awareness for CF and support the work of Cystic Fibrosis Canada.

Their son, Dominic, was diagnosed in 2008 right before the Hoops for Hope idea was born.

Hoops for Hope continues to drain 3’s for cystic fibrosis
Hoops for Hope continues to drain 3’s for cystic fibrosis

With Shaun’s deep roots in the basketball scene in the city, both at high school and university levels, it only seemed like a natural fit to start the fundraiser.

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“We thought with our connections to the basketball community we could put something together,” Shaun said.

“We have been overwhelmed with the support we have received from the community. It’s overwhelming to see the progression.”

“We enjoy putting it on. It’s a ton of work. It’s a labour of love.”

Because of the COVID-19 pandemic, they are planning a virtual Hoops for Hope event later this summer.

So far, they have raised roughly $400,000 for CF through the event with all the funds directed to the north Saskatchewan chapter of Cystic Fibrosis Canada.