Roseville parents have hope for son’s future with cystic fibrosis
More About Cystic Fibrosis
- An inherited chronic disease that affects the lungs and digestive system
A defective gene and its protein product cause the body to produce thick, sticky mucus that:
- Clogs the lungs and causes infections, obstructs the pancreas
- Stops natural enzymes from helping the body break down and absorb food
- CF affects about 30,000 children and adults in the United States, and 70,000 worldwide
- About 1,000 new cases are diagnosed each year
- More than 70 percent of patients are diagnosed by age 2
- The predicted median age of survival is the late 30s
- Very salty-tasting skin
- Persistent coughing, at times with phlegm
- Frequent lung infections
- Wheezing or shortness of breath
- Poor growth/weight gain in spite of a good appetite
- Frequent greasy, bulky stools or difficulty in bowel movements
Source: Cystic Fibrosis Foundation
Each morning, 21/2–year-old Drew Burke gets to select a movie to watch as a distraction for the 30 minutes he sits confined to a chair, a vest strapped around his chest, his little body shaking.
On a recent day in May, he chooses “The Lorax.” Later in the evening, he will once again pick something to watch on the television in the family room of his parents’ Roseville house.
As Drew sits, the vest shakes. Before their son turned 1 year old, the Burkes pounded on their son’s back with percussors, per the doctor’s orders. Now, either mom or dad will hold a nebulizer that sprays medicine into Drew’s nose, intended to prevent lung infections. Sometimes, the inhalant misses because his body moves so much or he gets fidgety, which means a wasted treatment.
The vest, meanwhile, loosens the thick mucus accumulated in his lungs, so he will cough it up. When Drew has a cold, he wears the vest four times a day. Drew, like 30,000 other children and adults in the United States, has cystic fibrosis, an inherited disease that affects the lungs and digestive system. The disorder is caused by a mutation in the gene for the protein that regulates sweat, digestive fluids and mucus.
The battle against the condition is daily and unrelenting. Over time, the lungs of a person with this condition weaken from exertion from the constant buildup of mucus and bouts with infections.
Drew’s life expectancy is 37 years old. But groundbreaking advancements in medical research and treatments have given hope to those impacted by cystic fibrosis, including one clinical trial the Burkes are considering for their son.
At the start of his vest treatment on this May morning, Drew smiles, his dimples showing and his big brown eyes twinkling with excitement. Despite his disease, he is always on the go.
“Can I hear you roar?” asks his mom, Tiffany, which is code for attempting a cough.
As the minutes spent with the vest on pass, the shaking increases and Drew’s smile fades.
“I’m done,” he says, his voice uncontrollably trembling.
But his dad, Rick, must refrain from turning off the machine.
The grieving process
Rick Burke was raised in Pleasanton and met the woman who would become his wife, Tiffany, when both worked as camp counselors. They celebrate their 12th anniversary this month.
The Burkes knew during Tiffany’s pregnancy with their second child that something was wrong. An ultrasound showed an intestinal blockage. When Drew was born in October 2010, doctors immediately began surgery to remove the blockage, and soon the baby was diagnosed with cystic fibrosis.
Neither Tiffany, now 34, nor Rick Burke, 35, had heard of cystic fibrosis and they underwent a crash course in the chronic disease that would come to dictate much of their lives. Doctors also informed them of Drew’s short life expectancy.
“There was a grieving process to know he wasn’t going to live as full a life as a normal person,” Rick Burke says.
Cystic fibrosis is attributed to a defective gene that causes the body to produce thick, sticky mucus, according to the Cystic Fibrosis Foundation. This mucus clogs the lungs and causes infections and stops natural enzymes from helping the body break down and absorb food.
Drew uses an enzyme treatment to break down food people without cystic fibrosis break down naturally. He has a high-calorie diet and eats a significant amount of food for his age, and his parents add butter and salt to all his dishes, as he sweats out a lot of salt. He drinks PediaSure twice daily. He takes up to 32 pills a day to treat his condition. And all of this is administered by his parents.
“I’ve learned I’m a caregiver before a mom,” Tiffany Burke says. “I have to drop that emotion so I can do what’s best for him.”
She once tried Drew’s vest on and said it felt like a combination of suffering an asthma attack and suffocating. Drew has spent some 250 hours of his life in the vest, so far.
His condition also requires regular visits to Kaiser Permanente Roseville Medical Center, which has three pediatric specialists for cystic fibrosis. Kaiser provides a multidisciplinary approach to their care of these patients, and each has a team with a nurse, respiratory therapist, case coordinator, social worker, genetic counselor and nutritionist.
“I make the joke that I live at Kaiser, and it’s really not a joke,” Tiffany Burke says.
Rick Burke works for a healthcare company in Rocklin, while his wife gave up a career as an esthetician. Sometimes, though, she wishes she still worked so she could have a brief reprieve from the demands of caregiving. They get help from a nanny a few times a week.
“Of course, I’m exhausted. Of course, I have no time with friends. But I’m given this gift,” Tiffany Burke says, referring to her son.
The parents estimate they spend about $150 a month for medications and $300 a week in grocery bills.
Dr. Steven Julius, a pediatric pulmonologist at Kaiser Roseville, describes cystic fibrosis as an “incredibly expensive” disease.
“Both the time commitment and the financial expense to simply ‘maintain’ one’s health are astronomical,” Julius says. “Furthermore, frequent lung exacerbation can often result in an escalation of therapy including but not limited to frequent, prolonged hospitalization, thus furthering the cost.”
Drew has suffered one serious lung infection, for which he had an 11-day hospital stay.
Cystic fibrosis is genetic and both Rick and Tiffany Burke possess the regressive gene that caused the CF mutation in Drew — but not in their older son, Brayden, 7. If both parents carry the gene, then the chance of having an offspring born with the disease is 1 in 4.
Julius says while there is no mandatory prenatal testing for cystic fibrosis, many women choose to test for a variety of genetic diseases on a panel that can be customized based on ethnic background of the parents and genetic diseases known in the family. Cystic fibrosis is much more common in Caucasians of European decent.
“DNA screening tests for CF look for the most common mutations which, based on the panel selected and the ethnicity, can detect up to 99 percent of CF cases,” Julius says. “However, there are approximately 2,000 known mutations and new mutations continue to be discovered. Screening does not check for all possible mutations and some parents can have a mutation not present on the panel.”
Promising advancements ahead
In the 1950s, children with cystic fibrosis rarely lived to attend elementary school. But advancements in research and medical treatments have dramatically extended life for people with the disease, and the median life expectancy today is the late 30s.
A big part of the reason for the continued progress is the Cystic Fibrosis Foundation, which partners with pharmaceutical companies to fundraise, develop therapies and spread information. The foundation has put millions of dollars into the drug Kalydeco, which the U.S. Food and Drug Administration approved in January 2012.
“This drug is the first to address the underlying cause of CF at the molecular level and has shown miraculous, disease-halting results,” Julius says.
The drug is currently approved for patients at least 6 years old with a specific mutation that applies to only 4 percent of the cystic fibrosis population. Other promising drugs address lung inflammation, nutrition, infections and mucus clearance.
Rick Burke says Kalydeco has given his family “tons of hope about the future.” Drew has been invited to participate in a clinical trial at Seattle Children’s Hospital to determine how the drug impacts children under the age of 6.
The parents also credit their Christian faith with giving them strength.
“We know (Drew) has the perfect body waiting for him for eternity in Heaven, so that makes us feel better … that has given us a lot of reassurance,” Rick Burke says. “I don’t know what we’d do without that. We would be even more devastated.”
Initially, the father grieved that his son would never become a grandparent or live into his 60s or beyond, but now he’s optimistic that could happen. The Burkes worry about the scary decisions Drew will eventually face, but doctors tell the parents to save for college, to plan for the belief that their son will one day get married and establish a career.
“We’ll get there when we get there,” Tiffany Burke says. “I’ve literally learned: one day at a time, once second at a time.”
These parents are sometimes sucked into a tunnel of despair dreading what hasn’t yet come to pass, but they choose every day not to stay there.