Tuesday, Sep 02, 2014
Health

Living with cystic fibrosis


Published:   |   Updated: July 11, 2013 at 08:06 AM

Heather Lamont Shovlin may not consider herself an expert on cystic fibrosis. But she is the strongest advocate and support system for her young son, Connor Mundy, 8, who was diagnosed in infancy.

The Palm Harbor mom, who had five other children, knew something was different about Connor's first three months of life. He was irritable, often inconsolable and had frequent bowel movements that seemed to prevent him from putting on weight.

"We thought it was colic," Shovlin said.

But a blood test at 3 months indicated Connor might be suffering from a condition Shovlin had little information about. He was sent for further testing, including a sweat test that measured the salt content in Connor's excretions. And it was confirmed. Connor had cystic fibrosis.

Both of Connor's parents were tested and were found to be carriers of the defective gene, the only way a child can have the disease.

Connor, now 8, is a curious, green-eyed, intelligent young man with an enormous passion for life and adventure. He has learned to become proactive in his own fight to live a quality life despite his disease.

Maddison Rae Tarulli, a beautiful, happy, curious 8-month old little girl is also living with cystic fibrosis, diagnosed when she was just a week old. Unlike Connor, Maddison showed no unusual symptoms. Her parents, Danielle Whitman and Thomas Tarulli, were notified of a positive test result after Maddison had undergone routine newborn screening.

The Brooksville couple took Maddison to All Children's Hospital in St. Petersburg where she was tested further to confirm the diagnosis.

"We were devastated," Whitman said. "I didn't even know what cystic fibrosis was."

Like Shovlin, Whitman began the journey of learning as much as she could about the condition and immediately stepped into the role as her young daughter's most dedicated advocate.

According to the Cystic Fibrosis Foundation, CF is a chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). CF is caused by a defective gene, mutated from both parents.

The protein products in the defective gene cause the body to produce unusually thick and sticky mucus. This mucus clogs the lungs (which could lead to life-threatening lung infections) and obstructs the ability of the pancreas to produce natural enzymes that assist in the breakdown and absorption of food particles.

Cystic fibrosis is considered a life-threatening disease. In the 1950s, children with CF weren't expected to live long enough to reach elementary school age. But with advances in research and medical treatments, most modern CF cases usually live into their 30s, 40s and beyond.

There are about 1,000 new cases of cystic fibrosis diagnosed each year with more than 70 percent of those diagnosed by the age of 2.

More than 45 percent of the cystic fibrosis population is over the age of 18, indicating that research is helping CF sufferers live longer. In fact, the predicted median age of survival is now in the late 30s.

To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. More than 10 million Americans are symptomless carriers of the defective CF gene. A blood test is used to detect carriers.

When two carriers of the gene have a child, that child has a one in four chance of having CF, a one in two chance of carrying the gene without having CF and a one in four chance of not carrying the gene or having CF.

In Connor's case, cystic fibrosis was suspected after certain symptoms appeared. Symptoms might include salty-tasting skin, persistent phlegm cough, frequent lung infections, wheezing or shortness of breath, poor growth or weight gain in spite of a good appetite and frequent greasy, bulky stools or difficulty in bowel movements.

In many cases today, the defective gene is discovered during routine newborn screenings directly after birth, as was the case with Maddison.

Once CF is suspected, the physician usually orders a sweat test, which is conducted at an approved cystic fibrosis clinic.

Living a quality life while battling cystic fibrosis requires dedication to specialized care, said Shovlin, who has become Connor's lifeline for his entire life. It isn't an easy journey, Shovlin said, since diligence is required to keep Connor healthy.

As an infant, he suffered from failure to thrive, even though he was nursing constantly. But he also eliminated more than most babies and therefore had difficulty putting on weight. At age 8, Connor is much smaller than his same-aged peers, requiring an enormous amount of calories each day to maintain good health.

Connor must also be kept away from potential illnesses. "He doesn't just get a common cold," Shovlin said. "When Connor gets sick, he gets MRSA."

Every three months, Connor goes through evaluation treatments. "We are seen in a special room and have to wear masks," Shovlin explained, to prevent Connor from getting sick.

Despite Shovlin's diligence, Connor was admitted into the hospital twice this year for lung infections. His latest stay was at Arnold Palmer Hospital for Children in Orlando where he was introduced to new medications that require at least two treatments a day when he is healthy and more when he is sick, said Shovlin.

Shovlin has dedicated her life to keeping Connor healthy. Yet she fights a legal battle daily with trying to get some kind of assistance for her son. He has been declined four times for Social Security Disability Benefits and one time in front of a judge. She currently has an attorney working on an appeal.

Shovlin isn't alone. Cystic fibrosis is considered non-eligible for Social Security benefits because, according to the guidelines obtained from the Social Security Administration, CF sufferers are expected to be able to work, when old enough, and obtain an income.

But Connor and Maddison are children who must rely on their parents to care for them. Both families struggle to maintain financial stability as they protect their children from harm.

Whitman can't work because she cannot put Maddison in day care.

The infant's daily treatments require up to 10 capsules of enzymes prior to every feeding. And Whitman must monitor her daughter's health continuously. How could she ever trust someone to give that kind of special attention to her child while she works?

Both sets of grandparents offer support where possible. Currently Whitman and Tarulli live with his parents because they cannot afford to go out on their own.

Connor's treatments are weakening his family's finances and his constant care prevents Shovlin from working a traditional job. She has become very creative in finding entrepreneurial options to keep her family intact and Connor healthy.

But it is taking its toll. The family recently created a fundraiser, called Coins for Connor, through an organization called Give Forward, to raise money for Connor's expenses. "I didn't want to do it," Shovlin said. But friends and family encouraged her to create the fundraiser.

Donations can be given to Connor's cause by joining the fight at www.give forward.com/fundraiser/gwg2/coins-for-connor.

The Cystic Fibrosis Foundation's mission statement follows the motto "adding tomorrows" to extend the length and quality of life for people with cystic fibrosis. Approximately 30,000 Americans fight the challenges every day. Yet advances in research have dramatically changed the face of the disease from even 10 years ago.

The foundation is also advocating by lobbying for additional support for families struggling with the financial burdens of keeping their children healthy and assisting adults with CF.

"I am teaching Connor to be proactive with his disease," Shovlin said. "He needs to know what to do when he is away from me."

Whitman is taking ever day as it comes. As a young mother, Whitman has already become the force in her daughter's life.

"We still do things," she said. "I am very careful when I take Maddison out. But we take her everywhere."

Her hope for her daughter is that she doesn't miss out on life just because she has a different path to follow.

"You tend not to sweat the small stuff," Shovlin added. "When you start to get overwhelmed, you tell yourself, 'OK, this is our life and we just have to do what we have to do.'"

For more information about cystic fibrosis, visit the Cystic Fibrosis Foundation at www.cff.org.

Hernando Today correspondent Kim Dame can be reached at damewrites@yahoo.com

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