• E-mail
• Print
• Comment
• Font Size
• Digg
• del.icio.us
• Discuss article

Tucson, Ariz.-Area Family Adapts to Child's Diagnosis of Cystic Fibrosis

Posted on: Friday, 29 April 2005, 18:00 CDT

Apr. 29--It was such a little thing at the start -- a few small bumps on Nathan Contreras' cheeks that looked like baby acne.

When the rash spread to Nathan's arms, stomach, legs and bottom, turned beet red and started peeling, Lesli Contreras was referred to a specialist in rare skin diseases.

He delivered the bombshell: Nathan, despite feeding voraciously at his mother's breast, was malnourished.

The rash, caused by nutritional deficiencies, was most likely a rare manifestation of cystic fibrosis -- a progressive, genetic disease that requires a lifetime of specialized medical care and that almost certainly will shorten Nathan's lifespan and leave him infertile.

"I felt like someone dropped a piano on me," Contreras said.

Tests at Tucson Medical Center days later confirmed the diagnosis.

Cystic fibrosis results from a defective gene that causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening infections, according to the Cystic Fibrosis Foundation. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to break down and absorb food.

Every day in a Tucson hospital or clinic, parents hear similar news. They learn their child has cystic fibrosis, cerebral palsy, spina bifida, congenital heart disease, muscular dystrophy, epilepsy, asthma or some other chronic, progressive or deadly condition. They are faced with their child's mortality and their lives are forever changed.

It can be overwhelming.

The emotions run the gamut from numbness to devastation. There is often denial, confusion, even guilt when the disease is gene-based, as cystic fibrosis is, said Yvonne Gathers, a social worker with the pediatric pulmonary section of the Arizona Respiratory Center.

Parents are taking in a ton of information about the disease and, in many cases, worrying about how they will pay for the medical care, she said.

They're wondering, "How normal is my child going to be?" and "What does the future hold for my child?" Gathers said.

In Tucson, many foundations and support groups assist families affected by chronic disease. One of the most comprehensive resources for families is The Children's Clinics for Rehabilitative Services, which treats about 4,500 southern Arizona children who have chronic diseases and disabilities, said Dr. Rodrigo Villar, co-medical director of the clinics. The center offers medical services, information, support and assistance in applying for state health programs, including the Children's Rehabilitative Services program, Gathers said. The program covers medical costs for Arizonans under 21 with certain illnesses.

When Lesli and her husband, Patrick Contreras, recall this period of their lives, two memories will stand out.

The first will be the birth of Nathan on Jan. 27 after a pregnancy rife with trouble. Patrick Contreras said he felt awe when he saw the baby crown.

"He was like a gift from God." The second unforgettable moment will be when the doctor came to Nathan's room at TMC on April 8 to deliver the results of the diagnostic test for cystic fibrosis.

"I was holding Nathan and Pat was sitting beside me on a chair," Lesli Contreras said. "I had to hand Nathan to him because ... my hands kind of went numb. I felt like I was going to fall over. ... I went to the bathroom, shut the door, and I collapsed on the floor and started crying. I just cried for a minute and tried to collect myself and came back out and said, 'OK, now what do we do for him?'"

Nearly everyone with cystic fibrosis eventually dies from respiratory failure.

But the picture is far less bleak than in the past. Life expectancy has gone from one year in 1950 to nearly 40. The oldest patient in Tucson is 65.

The disease is highly variable, said Dr. John Mark, a University of Arizona pediatric pulmonologist. Some people stay healthy into their 30s with only "tune-ups" ever other year or so. Others are hospitalized regularly, he said.

The Contreras family is getting into the daily rhythm of having a child with cystic fibrosis. In the mornings and evenings, Nathan needs a 10- to 20-minute breathing treatment with a nebulizer and pounding of the chest to loosen the thick mucus in the lungs.

He takes vitamins, and before every meal he gets applesauce laced with enzymes to allow him to digest his mother's milk and make use of its nutrients.

His parents carefully monitor his weight, eager for every extra ounce because normal growth is crucial for people with cystic fibrosis.

"If children have normal growth ... their lung function stays much healthier for a longer period of time," Mark said.

On one level, the family, which includes 10-year-old Thomas, is struggling. Patrick, 41, makes a fair income, having followed in the footsteps of his father, the late Alberto Contreras, as a jeweler. But Lesli, 34, won't be able to return to her former job as a nanny, a loss of $1,500 a month.

They have unpaid medical bills of about $12,000 from when she was uninsured and pregnant with Nathan. They are now insured but the plan covers only a percentage of Nathan's care and bills have to be paid upfront and reimbursed later, Lesli Contreras said.

Doctors have told the Contreras family that medical research could improve Nathan's quality of life and perhaps extend it.

"But there's a part of me that keeps thinking, 'Don't they say that about every disease.' I hope so and I pray it's true but I just don't want to feel blindsided," Lesli Contreras said.

-----

To see more of The Arizona Daily Star, or to subscribe to the newspaper, go to http://www.azstarnet.com.

Copyright (c) 2005, The Arizona Daily Star, Tucson

Distributed by Knight Ridder/Tribune Business News.

For information on republishing this content, contact us at (800) 661-2511 (U.S.), (213) 237-4914 (worldwide), fax (213) 237-6515, or e-mail reprints@krtinfo.com.

Source: The Arizona Daily Star

More News in this Category