Entries in Cystic Fibrosis (6)


Policy Makes Lung Transplant Less Likely for 10-Year-Old

Courtesy Murnaghan Family(NEWROWN, Pa.) -- If Sarah Murnaghan were 12 years old, she would be at the top of the adult lung transplant list because she only has weeks to live and a lung transplant would as-good-as cure her of cystic fibrosis.

But she's not 12, and if she doesn't get new lungs, she might not even make it to 11.

"We are not asking for preference for Sarah, we are asking for equality," Sarah's mother, Janet Murnaghan, said in a press release. "We strongly believe Sarah should be triaged based on the severity of her illness, not her age."

The Murnaghan family of Newrown, Pa., is fighting a little known organ transplant policy that is effectively pushing 10-year-old Sarah to the bottom of the adult transplant waiting list because it mandates that adult lungs be offered to all adult patients before they can be offered to someone under 12 years old.

Sarah has been on the pediatric waiting list for new lungs for 18 months, but since there are so few pediatric organ donors, there hasn't been a match. She's been living at Philadelphia Children's Hospital for two months connected to a machine to help her breathe, Sarah's aunt, Sharon Ruddock, told ABC News.

There were only 11 lung donors between 6 and 10 years old and only two lung transplants in that age group in 2012, according to an Organ Procurement and Transplantation Network statement.

However, since Sarah was eligible for an adult lung transplant, her family was both horrified and excited when her condition rapidly deteriorated earlier this month because they thought it meant she would get bumped to the top of the adult waiting list, Ruddock said.

"A week went by with nothing, no offers," Ruddock said. "They said, 'Well, you're not at the front of the line. It goes to all adults, and if all the adults turn them down, the lungs go to the kids.'"

Patients with cystic fibrosis, a genetic condition that damages the lungs, have an average life expectancy of 31 years old, said Dr. Devang Doshi, a pediatric lung specialist at Beaumont Children's Hospital in Michigan who has not met Sarah. But if they get a lung transplant, the condition is essentially cured.

"It's a very disheartening thing to hear and read about because you've got a child in desperate need of a transplant to survive...and people less qualified in terms of severity are able to get that organ instead of this child because of what's in place," Doshi said. "From a medical standpoint, we look at these types of hurdles and obstacles and sometimes get frustrated with the system."

So Sarah's family started an online petition on to persuade the Organ Procurement and Transplantation Network to change its policy. So far, they've gathered about 40,000 signatures.

The organization, which falls under the U.S. Department of Health and Human Services, responded on Monday that it can't make an exception for Sarah.

"OPTN cannot create a policy exemption on behalf of an individual patient, since giving an advantage to one patient may unduly disadvantage others," the statement read.

Doshi said he thinks children under 12 years old should be considered with the adult patients and awarded organs based on how severe their conditions are. Adult lungs may not perfectly fit child patients, but they can be used to save multiple children. One of his 6-year-old patients' got a partial lung donation from her mother several years ago in a last ditch effort to save her life.

Although adults make up the majority of the lung transplant waiting list, NYU Langone Medical Center's head bioethicist Art Caplan said children should be given priority if they're sicker than those adults, in part because children should be able to get more healthy years out of the lungs than adults.

"At the end of the day it's not so simple as kids versus adults," Caplan said, adding that chances of survival with the new organ and many other issues factor into the decision. "I think, however, there is a case that would say...most Americans -- as donors -- would want to give priority to children."

Doshi also said he thought that most adults would agree children should come first.

Sarah, who dreams of being a singer and a veterinarian, told her parents she wanted to fight for her life but not know how dire her situation was. However, Ruddock said she probably knows anyway. She lost her hearing a few weeks ago as a side effect of one of the antibiotics keeping her alive. At bedtime, she now asks her parents if she'll wake up.

Last Monday, Sarah's siblings and cousins gathered to say goodbye even though their parents didn't say that's what was going on, Ruddock said. On Friday, doctors told the family that they weren't sure Sarah would survive Memorial Day Weekend, but she pulled through.

"She was the little leader in our family. She would always get the little kids to put on a play for us," Ruddock said. "She's a bit of a pistol with a good personality to survive. She's not meek. She's a tough kid."


Copyright 2013 ABC News Radio


Boy Ordered to Transfer Schools for Carrying Cystic Fibrosis Gene

John Coletti/Getty Images(PALO ALTO, Calif.) -- A California middle school has asked that an 11-year-old boy be transferred elsewhere because he carries the gene for cystic fibrosis, a life-threatening genetic disease that is not considered contagious.  His parents say they will take the issue to court.

School administrators told Colman Chadam he needed to transfer from Jordan Middle School in Palo Alto, Calif., because he was considered a risk to another student at the school who has the disease, the San Francisco Chronicle reported.

“Based on the advice of medical experts, this is the zero risk option, and most certainly helps our District deliver on its commitment to provide safe learning environments,” Charles Young, associate superintendent of education service at the Palo Alto Unified School District, said in a written statement to ABC News.

Colman’s parents are going to court to dispute the transfer, claiming their sixth grade son poses no threat to the school or other students.

Cystic fibrosis is a genetic lung disease characterized by uncontrollable buildup of mucus in the airways, digestive tract and pancreas.

An estimated 30,000 children and adults have cystic fibrosis, and 10 million more are carriers of the cystic fibrosis gene, according to the Cystic Fibrosis Foundation.

While Colman may be at higher risk for lung infections, he poses no risk to children without cystic fibrosis or those who do not have the gene for the disease.  However, researchers say it may be risky for him to encounter someone who does have the disease.

Exposure can cause bacterial cross-contamination and a higher risk for infections among people who are carriers of the gene or who have the disease, according to a paper published in 2003 by Dr. Lisa Saiman, a professor of clinical pediatrics at Columbia University Medical Center in New York.

School administrators said the school already had a student with cystic fibrosis before Colman arrived.

Colman’s mother, Jennifer Chadam, told the San Francisco Chronicle that she listed Colman’s genetic condition on his school health form.  She said he has previously attended two other schools with children who have cystic fibrosis.

“They made this decision without seeing one medical record on my son,” Jennifer Chadam told the Chronicle.

According to Dr. John LiPuma, director of the Cystic Fibrosis Foundation Burkholderia cepacia Research Laboratory and Repository at the University of Michigan, there are many children who carry genes for a disease they will never go on to develop.

“Given this school’s strategy, they would need to reassign about 5 percent of their student body to another school,”  he said.

But Young said the administration said they are not willing to take chances.

“The harsh reality of a busy middle school campus, where students ranging in ages from 12 to 15 share a cafeteria, restrooms, the gym and locker room, a library and other settings, is that it might be virtually impossible to maintain a specified separation and sanitation protocols at all times,” Young wrote.

Carriers and children with cystic fibrosis can attend the same school as long as they are not placed in the same classroom or stay at least three feet away from each other, according to infection control guidelines from the Cystic Fibrosis Foundation.

However, LiPuma said, with proper hygiene, it’s highly unlikely that any infection will occur, even if students come in close contact.

Copyright 2012 ABC News Radio


Boy, 10, Treated Daily for Cystic Fibrosis, Bowls Perfect Game

The Grayston Family(LAGUNA HILLS, Calif.) -- A 10-year old California boy who was diagnosed with cystic fibrosis as an infant is defying all the odds.

Sam Grayston, 10, of Laguna Hills, Calif., bowled a 300 last Friday at the Forest Lanes Bowling Center in Lake Forest, Calif.

“The pressure started to build and I threw the ball a little weird,” Sam said. “I was really nervous, but it kept going right to left and then all the pins fell.”

Sam’s mother, Laurie Grayston, said that Sam had part of his intestine removed and was fed through a feeding tube until he was nine months old. She was also told that Sam would never be able to sit up on his own.

“I didn’t want to believe it,” said Laurie. “We didn’t believe he was going to be held back. We thought he was going to be normal.”

Now Sam has to undergo daily treatment for his cystic fibrosis. This includes a few arduous breathing treatments every morning and night, including a treatment that requires him to wear a vest that shakes him vigorously to clear mucus from his lungs. He also has to take medicine each time he eats and has to drink constantly to avoid dehydration.

Despite what therapists and doctors predicted, Sam started to walk and has spectacular hand-eye coordination.

His father, Joe, a Los Angeles County fire captain and former professional baseball player for the Texas Rangers, taught his son how to play baseball and golf.

“He is great with almost any sport that uses a ball and a bat,” Joe said. “He is such a great athlete and he has a quiet confidence about him.”

“He has the most amazing swing as a lefty, in golf and baseball,” Laurie said. “He was on the 10 and 11 year old baseball All-Star team as a nine year old.”

According to his mother, Sam just wanted to try bowling for fun and now he can’t get enough of it. He wants all of his birthday parties to be at the bowling alley. The Graystons also set him up in a Youth Bowling League and started sending him to private lessons.

“He just took off from there,” Laurie said. “I drop him off around 10 and he will play until 6 p.m. He is just focused on it; he is focused on any sport he does.”

However, when Sam’s passion for bowling conflicted with his ability to play baseball, he had to make a decision. He decided to take some time off from baseball and participate in his weekend bowling league. But  this decision initially was met with some resistance from his parents.

“I had been his baseball coach for a few years and when he told me he was going to stop playing baseball and bowl instead I was like ‘Um, what?’” Joe said laughingly.

But, Sam’s parents said that they want him to follow his dream and do whatever he wants.

When Sam saw the last pin fall in the 10th frame he was elated.

“Happiness -- lots of happiness. Most of my friends were there and everyone was watching,”  Sam said.

Sam said that his favorite sport is bowling and his next big goal will be to bowl a 700 series over a course of three games.

“Sam is an inspiration,” his mother said. "He never complains and he is always in a good mood. He is just an all around amazing boy.”

Copyright 2012 ABC News Radio


Bride Races Against Cystic Fibrosis to Get to the Altar

Stockbyte/Thinkstock(NEW YORK) -- Doctors said Kirstie Mills Tancock may not make it to the alter without a new set of lungs.

The 21-year-old from Devon in the United Kingdom has cystic fibrosis, and just days before her dream wedding last year, her lungs filled with a life-threatening infection.

"I have spent every moment living like it was my last," said Tancock, who, until her health spiraled downward, was a fit athlete and worked as a pole dance instructor.

"I take life as it comes," she said.  "You never know what's going to happen.  Just because you know your life will end doesn't mean you have control."

Television cameras followed Tancock for four months last year as she simultaneously planned her wedding and waited for a lung transplant.  Breathless Bride: Dying to Live will air on TLC on Feb. 29 at 10 p.m. EST.

In the documentary, Tancock was confined to a wheelchair and hooked up around the clock to an IV for strong pain medication and antibiotics.  Just days after her June 16 wedding, she was medevaced to a London hospital for a lifesaving double lung transplant.

"Kirstie is a complete fighter," said her husband Stuart Tancock, 27, and a sports store manager, in the documentary.  "You can't put her down.  She'll fight for anything."

From a young age, Kirstie Tancock knew she was living on borrowed time.  She was born with cystic fibrosis, an inherited chronic disease that affects the lungs and digestive system.  About 30,000 children and adults in the United States have the disease.

Close to 1,000 new cases are diagnosed each year in the U.S., and about one in three people with the disease will die waiting for a lung transplant.

A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening infections, according to the Cystic Fibrosis Foundation.  The disease also obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

Only a half century ago, few children with CF lived to attend elementary school.  Today, medical advances have extended the average life span of someone with CF well into their 30s and 40s.

According to the CF Patient Registry, nearly 1,600 people with the disease have received lung transplants since 1991.  As many as 90 percent are alive one year after transplantation and half are still living after five years. 

Copyright 2012 ABC News Radio


Sisters Thrive on Experimental Cystic Fibrosis Drug

iStockphoto/Thinkstock(BOSTON) -- An experimental drug called ivacaftor has transformed life for two Massachusetts sisters born with cystic fibrosis, a genetic disease that frequently interrupted their schoolwork and extracurricular activities by turning simple colds and viruses into potentially life-threatening lung infections that slowly reduced their ability to breathe freely.

Laura Cheevers, now 13, and her sister Cate, 10, were born with a gene defect that clogged their lungs with thick, sticky mucus, leaving them vulnerable to bacterial growth, infection and inflammation. Cystic fibrosis affects mucus membranes elsewhere in their bodies, including their digestive systems, where it interferes with absorption of nutrients, forcing them to consume thousands of daily calories to keep from losing weight. Both were in and out of the hospital and tired easily from an incurable, progressive disorder, which their parents knew could cut short their lives.

But today both are thriving, thanks to an international team of scientists and the Cystic Fibrosis Foundation, which spent years jointly developing what is shaping up to be the first treatment successfully targeting the basic defect underlying their disease. Although the twice-daily pill only helps CF patients with one particular genetic mutation -- about five percent -- experts expect the research to help them target the other mutations responsible for the disease. Both girls participated in double-blind clinical trials comparing ivacaftor pills to dummy pills among young adults and children. Neither the patients, nor their doctors, knew for sure for 48 weeks if they were getting the medication -- or the placebo.

However, the family and Cate had their suspicions. They noticed that Cate began improving within a month of beginning the study of ivacaftor in children 6 to 11. She stopped coughing, began growing like a weed, and her first lung tests showed "almost a 30-percent bump, which blew all of us away," said her mother, Kim Cheevers. Laura, who was in a similar study of the drug in children and adults ages 12 and older, stayed "pretty much the same as before. She ended up worsening over the winter."

Then, on April 1, everyone in the two trials began getting the medication for sure, and the results have been nothing short of stunning for the sisters from North Andover, Mass.

Laura, who typically "strains to gain a pound a year," has gained about 8 pounds, said Kim Cheevers, a pediatric intensive care nurse at Massachusetts General Hospital in Boston. "She is not coughing at night anymore. When she does get sick -- and this week we all have this horrendous cold and cough -- her mucus isn't that thick, thick sticky mucus. Everything is watery; it's easier for her to clear." More remarkable still, "she hasn't been on a course of antibiotics since she's been on the drug. In the past, every other month she'd be on something."

Laura and Cate are now six months into extensions of the ivacaftor clinical studies, which will provide them with the medication for eight years, their mother said. "We're on it until it gets FDA approval."

Vertex Pharmaceuticals, of Cambridge, Mass., developed the drug in collaboration with a non-profit drug research affiliate of the Cystic Fibrosis Foundation. On Oct. 19, Vertex asked the FDA for a priority review of the drug, which can be granted to medications considered major treatment advances. Vertex also requested similar expedited consideration from the European Medicines Agency, the regulatory body for the European Union.

The trial in which Laura enrolled found that ivacaftor improved lung function, helped with normal growth and weight gain, and reduced infections with few side effects, according to a report in Wednesday's issue of the New England Journal of Medicine. Improvements for those getting the drug began as early as two weeks and lasted for the duration of the study. Furthermore, the rate of serious side effects was worse among placebo recipients than those getting ivacaftor, suggesting it's safe as well.

Up until now, most drugs given for cystic fibrosis treated only its complications, such as chronic lung inflammation and frequent infections, and helped patients clear the clogged mucus better. These drugs helped push median survival in the last four decades from 11 years to what the Cystic Fibrosis Foundation says is now 37 years.

Results from a study of ivacaftor in children ages 6 to 11 (in which Cate participated), as well as use of the drug in combination with VX-809, another drug in the CF pipeline, are being presented this week at the 25th Annual North American Cystic Fibrosis Conference in Anaheim, Calif.

Copyright 2011 ABC News Radio


New Guidelines Recommend All Women Should Be Screened for Cystic Fibrosis 

Comstock/Thinkstock(WASHINGTON) -- The American College of Obstetricians and Gynecologists (ACOG) has expanded guidelines for preconception and prenatal cystic fibrosis screening. 

Cystic fibrosis is a progressive disease that primarily affects the lungs, pancreas and digestive tract.  Median survival is around 37 years as the disease shortens patient lifespan significantly, according to the ACOG.

Previously, screening to determine whether a person carried the cystic fibrosis causing gene was only recommended for people who had a family history of the disease or were of Ashkenazi Jewish or Caucasian decent, where the prevalence of the disease is highest and the sensitivity of the test is over 90 percent.  The test is less than 50 percent effective in detecting the carrier gene in Asians. 

Since it is very hard to say that people belonging to a particular ethnicity are more likely to be affected with cystic fibrosis, the ACOG is now recommending testing all women of reproductive age for the cystic fibrosis gene as part of routine obstetric care.

Copyright 2011 ABC News Radio 

ABC News Radio