Faces of Rare Disease: Cystic Fibrosis

Faces of Rare Disease: Cystic Fibrosis

Chromosome 7 is one of 23 pairs of chromosomes that are part of every person's genetic make-up. When there is a mutation in a gene on this chromosome, it is known as "cystic fibrosis."

In this "Faces of Rare Disease" story, we introduce you to little Landon McKee of Iowa, living with this chronic disease.

22-month-old Landon McKee loves stories, and it is no wonder - this bubbly boy has been living his own amazing story since birth.  "It was a perfect pregnancy," said mother, Tiffany.  "No signs of a problem, nothing."

Like every infant, Landon went through newborn screenings.  "He flagged for cystic fibrosis and they wanted us to go to New Orleans and just get a sweat test as a precaution," said Tiffany.

The sweat test is standard to detect the defective cystic fibrosis gene. When Landon's test results came back positive for the deadly disease, Tiffany and her husband, Brett, were shocked with a diagnosis they knew nothing about, let alone that they were both carriers.  "I don't even know what the doctors told us that day," said Tiffany, "I couldn't tell you...I was just gone."

Brett instantly shifted his thoughts and dreams for his baby boy to survival mode.  "You find out they have something that's wrong with them and you don't know anything about it," he said, "it just blows your mind."

The defective gene causes the body to make thick, sticky mucus that clogs the lungs and keeps the pancreas from breaking down food.  "Their lungs, with the mucus, is really thick and sticky and gets lodged in their lungs and their lungs will hold in infection," said Tiffany.

Healthy lungs have unobstructed bronchial tubes, while the sticky mucus in the lungs of a cystic fibrosis patient blocks the bronchial tubes.  This mucus build up leads to chronic lung infections and that is typically what leads to death for those with the diagnosis.

The disease is managed each day with antibiotics, enzymes before every meal and multiple daily vitamins.  Breathing treatments are also done daily, followed by 30 minutes of chest and back pats to clear the mucus.  "It is not just kids that have to do this, adults are having to do this every day just to keep themselves able to do normal things," said Tiffany.

In the 1950s, most diagnosed children never made it to grade school, but today, the life expectancy is in the mid-30s.  "We need research, we need funding, we need to find those drugs out there that could possibly cure or prolong people's lives," said Tiffany.

That is something Cassondra Guilbeau is fighting for, after losing her 38-year-old husband, Brian, to the disease in 2009.  "It may not be a cure for CF," said Cassondra, "but what it will do will allow people with CF to live longer, healthier lives."

Tiffany and Brett are working with other families to raise money needed to make a medication that could help children like Landon live well into adulthood.  "You would never even think anything is wrong with him," said Tiffany, "he is just active and happy."

It is an overwhelming feeling for these young parents to think about the struggles their child faces, but they believe hope is on the horizon.  "Our hope is that there is a cure one day, in the form of a medicine or something that he has to take, maybe just one pill that he has to take and he doesn't have to worry about his enzymes, doesn't have to worry about his breathing treatments," said Brett.

There is a new drug that is the first of its kind to treat breathing problems and the results have been great, although it only affects about four percent of patients with a specific gene mutation.

Right now, Congress is evaluating the "EXPERRT Act." that will speed up the FDA drug approval process, with the help of rare disease researchers and patient advocates.

If you want to help raise awareness and funds for cystic fibrosis, join "Geaux Team Landon" for the Great Strides Walk at Veteran's Memorial Park in Lake Charles on September 15th.  Click here for more information.

Copyright KPLC 2012.  All rights reserved.