A Family’s Fight against Cystic Fibrosis

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RALEIGH, N.C. (Ivanhoe Newswire) — Imagine losing nearly all of your siblings to cystic fibrosis, a genetic condition that makes it difficult to breathe.  There are some treatments, but so far, no cure.  There’s one woman who is working to turn her personal tragedy into triumph.

“My mom had nine children, yeah, it was a big family,” said Wanda O’Neal, PhD, Associate Professor of Medicine at Marsico Lung Institute UNC Cystic Fibrosis Center.

O’Neal gets emotional when talking about her eight siblings.

“I knew that my sisters and brothers had cystic fibrosis,” she continued.

In fact, six out of the nine children were diagnosed with the debilitating lung disease.

“My sister Nancy, she was the first to pass away,” O’Neal shared.

One by one, O’Neal watched helplessly as five of her siblings became sick with pneumonia, eventually succumbing to CF.

“They were just so brave,” O’Neal told Ivanhoe.

Searching for a way to turn tragedy into triumph, O’Neal has dedicated her life to CF research at the University of North Carolina.

“We’re making steps,” she said.

Amazingly, O’Neal’s 50-year old brother Mike is living with CF. Her team of researchers is working to identify what’s helped him survive. Researchers are also taking the CFTR protein that’s defective in patients and altering it in the lab so it works better to keep mucus in the lungs hydrated. UNC scientists are collaborating with drug companies on treatments that would make the defective protein work better in patients.

“We’re developing the technology to actually personalize it; to tailor the optimal therapy for that person,” said Richard Boucher, MD, Director Of the UNC Marsico Lung Institute.

O’Neal says she will never stop working to find a cure for CF, with the memory of her siblings pushing her on.

“It makes a difference that people still remember them for the people that they were, not the disease that they had,” O’Neal shared.

A family’s fight, inspiring hope in the battle against cystic fibrosis.

The UNC researchers say the new treatments should be available in three to five years. The hope is to extend the life span of patients from their forties well into their seventies. For more information on their cystic fibrosis research please visit https://www.med.unc.edu/marsicolunginstitute/ or https://www.cff.org.

Contributors to this news report include: Janna Ross, Field Producer; Roque Correa, Videographer; Cyndy McGrath, Supervising Producer; Hayley Hudson, Assistant Producer; Dave Harrison, Editor.

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MEDICAL BREAKTHROUGHS

RESEARCH SUMMARY

 

TOPIC:            A FAMILY’S FIGHT AGAINST CYSTIC FIBROSIS

REPORT:       MB #4396

 

BACKGROUND: Cystic Fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affect the production of the CFTR protein. When the protein is not made correctly, it affects the balance of salt and fluids inside and outside of the cell. This imbalance leads to thick, sticky mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. People with CF can have a variety of symptoms that include but are not limited to; persistent coughing at times with phlegm, frequent lung infections including pneumonia or bronchitis, and wheezing or shortness of breath.

(Source: https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/)

 

DIAGNOSING: More than 10 million Americans are carriers of one mutation of the CFTR gene. To have CF, a child must inherit two copies of the CFTR gene that contain mutations, one copy from each parent. People who have only one copy of a CFTR gene mutation do not have cystic fibrosis. They are called “CF carriers”. Genetic testing plays a key role in the diagnosis of CF. The test looks at a person’s DNA, which is taken from cells in a blood sample or from cells that are gently scraped from inside the mouth.

(Source: https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/)

 

NEW RESEARCH: Researchers at the University of North Carolina are developing better treatments, while searching for a cure for CF. Researchers have found that CF patients with the Delta F508 mutation, the CFTR gene, does not fold into its correct form and cannot make it to the cell surface. Other genes and pathways are involved. Researchers have analyzed more than 4,000 genetic pathways to find the ones that played roles in CF and identified two broad types of pathways. They say these genetic pathways may play roles not only in the severity of the disease, but whether a person responds to specific therapies, including a combination therapy of two new drugs. They are hoping to find out if people who respond to these therapies will have higher expression of the genetic pathways they’ve identified. If so, they may be on the cusp of personalized approaches to treating CF patients at the level of their genes.

(Sources: http://endeavors.unc.edu/the_family_disease/ and Dr. Wanda O’Neal)

 

FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:

Mark Derewicz

Mark.derewicz@unchealth.unc.edu

984-974-1915

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com

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