Cystic fibrosis is still the No. 1 fatal genetic disease for Canadian kids – here’s why

It's estimated that one in 3,600 kids born in Canada have cystic fibrosis, Cystic Fibrosis Canada says. Burger/Phanie/Getty Images

It was supposed to be a routine ultrasound for Hamilton resident Tammy Strong, who was at the time 20 weeks pregnant with her daughter Mikaela Bianchin in 2000. But as the transducer probe from the ultrasound machine moved across her belly, it picked up on something peculiar.

“They noticed something on the ultrasound called an echogenic bowel,” Strong explains. “That’s when they asked if we had any history of cystic fibrosis in our family. We said no, so they said it was OK and not to worry about it and that it could be nothing.”

So Strong didn’t worry.

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Weeks later Mikayla was born, she had a bowel obstruction and was sent to the neonatal intensive care unit (NICU). While there, Strong overheard the doctor mentioning that a bowel obstruction at birth could sometimes be a sign of cystic fibrosis.

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At that time there was no newborn screening for cystic fibrosis, so they sent away for genetic testing and discovered that Mikayla had the disease.

(Today in Canada, babies at birth are pricked at the heel of the foot for a blood sample, which is sent off to test for several rare genetic disorders.)

“That was overwhelming because we were brand new parents trying to learn what to do with a newborn baby and it was just so challenging and difficult,” Strong says. “We knew nothing about the disease. And when we looked into it, we see that it’s a fatal disease and that’s extremely difficult for parents to even try to imagine that they might outlive their child.”

Cystic Fibrosis Canada explains the disease happens when a child inherits two defective copies of the gene that carries cystic fibrosis – one from each parent.  That was the case for Strong and her husband Darren. They had a one-in-four chance of having a child born with the disease.

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As time went on, the couple learned how to care for Mikayla. They also decided to try for another baby and in 2003 had their second daughter Madison.

Despite the odds, however, Madison was also born with a bowel obstruction which later led to a diagnosis of cystic fibrosis.

Mikayla and Madison. Cystic Fibrosis Canada

“It brought even more challenges onto us,” Strong says. “We dealt with it, but we were disappointed that both our children were born with this genetic disease. We did take the chance because we still had a 75 per cent chance of not having a baby with cystic fibrosis.”

According to Dr. John Wallenburg, chief scientific officer at Cystic Fibrosis Canada, cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults.

It’s estimated that one in every 3,600 children born in Canada has cystic fibrosis, and more than 4,100 Canadian children, teens and adults visit specialized cystic fibrosis clinics.

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“There is no cure,” Wallenburg says. “As a result of the disease, the body produces thick sticky mucus that plugs ducts and harbours bacteria and other pathogens. [Cystic Fibrosis] affects multiple organs leading to a variety of effects on the body, but mainly affects the digestive system and lungs.”

Because of this mucus buildup, both Mikayla and Madison have to spend an hour-and-a-half each morning before school and another hour-and-a-half every night undergoing inhalation treatments and chest physiotherapy.

“The girls are amazing support for each other,” Strong says. “It’s just that the disease is extremely time consuming and exhausting on a daily basis.”

Plugged ducts in the pancreas means that most people with cystic fibrosis cannot digest their food without supplementation enzymes, Wallenburg says. The degree of the disease’s severity, he adds, differs from person to person – however, the persistence and ongoing infection in the lungs (brought on by pathogens trapped in the mucus) leads to progressive destruction of the lungs and loss of lung function.

Symptoms of cystic fibrosis include persistent cough with productive thick mucus, wheezing and shortness of breath, frequent chest infections, bowel disturbances, oily stools, weight loss or failure to gain weight, salty-tasting sweat, infertility in men and decreased fertility in women.

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Cystic fibrosis is often diagnosed at birth. A sweat test, which measures elevated levels of salt in the sweat, is part of the diagnosis protocol, Wallenburg says. Genetic testing can also help identify patients as well as carriers.

In fact, one in 25 Canadians is a carrier of the gene.

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There are treatments that can help manage aspects of the disease, including medications to aid with food absorption, and antibiotics for chronic infections.

Sometimes, however, mucus buildup can be so much that surgery is required. In Mikayla and Madison’s case, they’ve had 12 surgeries between the two of them.

The leading cause of death in patients with cystic fibrosis, Wallenburg says, is respiratory failure.

“Individuals living with cystic fibrosis will spend between two to four hours every day of their lives doing therapies to slow the rate of progression of the disease,” Wallenburg says. “Often called an invisible disease, even in young people with no outward symptoms of CF, the therapeutic regimen can interfere with life, school, and participation in after-school activities. As the disease progresses and co-morbidities develop, it interferes with the ability to go to school or university, to work or maintain a ’normal’ routine, start a relationship or even raise a family.”

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However, a common misconception is that cystic fibrosis is mainly a pediatric disease. In Canada, Wallenburg says, the tipping point was in 2004 — the first year there were more adults than children with the disease. Today 60 per cent of people with cystic fibrosis are adults.

The median age of survival for someone born in 2016, Wallenburg points out, is 53 years old. The median age of death in 2014 was only 32.

“People with cystic fibrosis are living longer, more accomplished lives,” Walenburg says. “They have families and like everyone else, struggle to find balance between their home, school and work lives, with the added dimension of having two to four hours of additional activity to incorporate every day, and, sometimes, frequent hospitalizations. Those with CF struggle with the problems associated with having a perceived ‘time-limit’ — do I have children, or is that unfair, to them, to my partner?  They contribute greatly to society, and leave gaping holes when they pass away.”

There are also two new drugs that target the basic defect in cystic fibrosis, Wallenburg says. However, one of the two is not covered by provincial health-care plans, and the other isn’t even covered for all of the mutations that it could treat.

“Effective therapies are being denied to individuals who very much need them and who could greatly benefit,” Wallenburg says. “Part of this is due to the nature of cystic fibrosis being a rare disease.”

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It’s discoveries of new treatments – and possibly a cure – that give Strong and her family hope. And now’s the time more than ever for Canadians to pay attention to this disease because hope is just on the horizon, Strong says.

“I want people to know that people with cystic fibrosis are working really hard to stay healthy because we have tremendous hope that a cure is close,” Strong says. “So can you imagine if you knew your child was born with a fatal disease that a cure was within reach? That the donations made now could actually cure your child.”

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