Cystic fibrosis breakthrough

Published On: Mar 27 2013 01:57:52 PM EDT
Updated On: Mar 29 2013 06:20:00 AM EDT

Each year, a thousand children are born with cystic fibrosis. Kids with it are not expected to live past their thirties, but now many could live much longer.

Rylee is a girl on the go. She won’t let her disease slow her down.

“I have cystic fibrosis,” said Rylee.

Cystic fibrosis causes the body to produce a thick mucus that clog the lungs and pancreas, making it difficult to clear the lungs and break down food. A child with CF constantly fights infections and to maintain a healthy weight.

“Any kind of plan that we had for the future or dream that we had for our daughter was completely shattered,” said Amy, Rylee’s mom.

A year ago Rylee, was taking 20 pills a day. Now, she’s only taking one!

“They’re magic pills,” Rylee said.

Kalydeco is the first drug that targets the underlying cause of CF, the defective protein called CFTR. In some patients, this protein does not allow fluids to clean the surface of the lungs that can cause deadly infections.

“That infection can fester because it just doesn’t move,” explained Carolyn Cannon, MD, Director of the Pediatric Cystic Fibrosis Care and Teaching Center at Children’s Medical Center at Dallas.

Kalydeco restores the function of the CFTR protein, clearing out the lungs, and relieving symptoms of the disease.

“It is absolutely a game changer. It changes their life,” Cannon said.

Giving kids like Rylee a chance for a long, healthy life.

“I can dream anything for her now,” Amy said.

Not only does Kalydeco take away the symptoms for some kids with cystic fibrosis, doctors believe it might allow them to live decades longer than expected.

Kalydeco was recently FDA approved for kids over six. Rylee is using it off-label and is the first child under the age of six to start on it. The drug costs 300,000 dollars a year, but Rylee’s insurance pays all but $90 a month.

Additional Information:

BACKGROUND:   Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system.  About 30,000 children and adults in the United States (70,000 internationally) have it.  Sticky, thick mucus is produced because of a defective gene and its protein product. The sticky mucus clogs the lungs and could lead to life-threatening infections.  Also, it obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. More than 70% of patients are diagnosed by the age of two.  Before advances in medical treatment, in the 1950s few children lived to go to elementary school.  The median age of survival is now late 30s. (Source: www.cff.org)

 

SYMPTOMS:  People who have cystic fibrosis can have a mixture of symptoms.  They can include: persistent coughing, salty skin, frequent lung infections, wheezing and shortness of breath, frequent greasy stools, difficulty with bowel movements, and poor growth or weight gain.  (Source: www.cff.org)

 

TREATMENT:  There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications.  Aggressive intervention and close monitoring is always recommended.  Treatments aim to loosening and remove the thick mucus from the lungs, prevent and treat intestinal blockage, prevent and control lung infections, and provide needed nutrition.  Mediations include antibiotics, mucus-thinning drugs, oral pancreatic enzymes (to help the digestive tract absorb nutrients) and bronchodilators.  Chest physical therapy can loosen the mucus.  There are available mechanical devices; such as, the chest clapper, inflatable vest, and breathing devices.  The doctor might recommend pulmonary rehabilitation and can include: nutritional counseling, breathing strategies, exercise training, psychological counseling, and energy conserving techniques.  Also, surgery is another option.  They can include: nasal polyp removal, oxygen therapy, lung transplant, endoscopy, feeding tube, and bowel surgery.  (Source: www.mayoclinic.com)

 

NEW TECHNOLOGY:  Kalydeco is a new FDA approved oral medication for treating cystic fibrosis in patients six and older.  This is the first dug that targets the cause of cystic fibrosis, the G551D mutation (a mutated gene and its protein product CFTR).  About four percent of people with cystic fibrosis in the United States have the G551D mutation.  The drug used to be called VX-770 and its generic name is ivacaftor.  The pill is taken twice a day.  The drug helps improve lung function and lower sweat chloride levels.  It can also help patients gain weight.  In people with the G551D mutation, the defective protein moves to the right place at the surface. It acts like a locked gate, preventing the proper flow of fluids and salt in and out of the cell.  Kalydeco unlocks that gate and restores the function of the mutated protein.  Allowing the proper flow of fluids and salt, it helps to thin the mucus.  Kalydeco is now available by prescription for people with the G551D mutation ages six and older.  Vertex began clinical trials in 2012 to see if Kalydeco can be taken by children ages two to five with the G551D mutation, people with mutations other than the G551D, and people with at least one copy of the R117H mutation. For more information on obtaining Kalydeco, contact Vertex at 1-877-752-5933 or www.kalydeco.com.  (Source: http://www.cff.org/treatments/Therapies/Kalydeco/#How_does_Kalydeco_work?)

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