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New hope for patients with cystic fibrosis

 
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Sarah and Jeffrey Yourman don’t let their disease keep them from an active life.

Lisa and Steven Yourman and their two teenage children have all the trappings of the typical suburban Jewish family. A ketubah (Jewish marriage contract) and family portraits are displayed prominently on the wall of their split level home, their cat roams around the books, electronics, and other possessions of a busy family life, and a basketball hoop and four cars occupy their driveway. But their Fair Lawn home also has signs of their remarkable challenge: the medical equipment and cartons of medical supplies necessary to care for Sarah and Jeffrey, both of whom have cystic fibrosis.

Cystic fibrosis (CF) is a genetic disease affecting about 30,000 people in the United States. It is more prevalent in Caucasians. The incidence among Ashkenazi Jews is similar to that for Tay-Sachs: About one in 29 Ashkenazi Jews is a carrier. Carriers have no symptoms, but when two carriers have a child there is a one in four chance that the child will have CF.

CF is a lifelong illness with no cure. It affects many critical organs, including the lungs, liver, and pancreas. Just a few decades ago a CF patient’s life expectancy was in the teens, but now, because of antibiotics and other advances in treatment of symptoms, many CF patients live active lives into their 50s.

Lisa and Steven Yourman have hope that the prognosis for their two children will be even better, as a new drug that treats the underlying defect is being tested and may soon become available. Over the years there have been many potential therapies offering hope that did not pan out, but the new drug, Ataluren, works in an entirely different way, explained Lisa Yourman. “There were other drugs I never got excited about. There was an IV [intravenous] medication that, when given in very high doses, corrected the defect, but there were serious adverse reactions. But this one is different. The drug is 11 years in the making,” she said.

“Everyone carries two copies of the gene for the sodium channel protein. The two versions could be the same or different,” said Yourman. The Yourman children have among the most common mutations: Delta F508 and G542X. It is the G542X mutation that gives them hope, as it is a so-called “nonsense mutation.” Normal genes provide instructions to guide the production of all the proteins that control the functions of the body. When a nonsense mutation occurs, the mutated gene contains an error that blocks the production of a complete protein. A CF nonsense mutation is an error in the genetic instructions that interrupts production of a key protein needed for transport in many organs. The partial protein that is made does not work properly and leads to serious complications in mucous secretion and production of other fluids. The new drug Ataluren may be able to reverse the defect caused by a nonsense mutation such as G542X mutation (see sidebar).

“The drug has been extensively tested at Hadassah Hospital in Israel,” said Yourman. “The drug is in clinical trials. Now it is being tested around the world.” Lisa recalled her late mother-in-law, Janet Yourman, who was very active in Fair Lawn’s Hadassah chapter, raising money for Hadassah Hospital for almost 50 years. Lisa believes that work of Janet Yourman and others like her on behalf of Hadassah may have helped lead to the development of this drug.

The Yourmans will be applying for Sarah and Jeffrey to participate in Phase III trials at Children’s Hospital in Pittsburgh, where trials are scheduled to begin shortly. It is a 48-week double-blind randomized trial, which means that half the patients get the treatment and half a placebo, an inert medication. “The worst that can happen is that you can waste a year,” said Lisa, referring to the possibility that her children might be assigned to the placebo group. After the trial, the patients who received the placebo are eligible to take the drug.

“We are so excited. I hope they both qualify,” she said.

Life in a CF family

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Lisa Yourman demonstrates the preparation of antibiotics for Sarah’s IV. MIRYAM WAHRMAN

For Lisa Yourman, taking care of two children with CF involved learning how to administer medications, advocate for medical services, negotiate complex health insurance issues, and schedule daily therapy sessions, all while providing opportunities for Sarah and Jeffrey to have normal childhood activities. The treatments for CF symptoms have improved dramatically, allowing the children to live remarkably normal lives despite the fact that the regimen needed to maintain their health is daunting. Yourman works as an advocate to help other parents deal with CF and has even lobbied in Trenton on health-care issues.

Yourman brims with pride over her children’s accomplishments. “I have two kids with chronic disease with them every single day of their lives, and they are very successful academically,” she said.

Sarah, 19, is a sophomore at Kean University. The petite and perky teen is studying for a bachelor of fine arts degree in theater design and technology and would like to work in theater lighting design. Sarah also suffers from CF-induced diabetes and she has done public speaking as a diabetes advocate. She was on the cover of “Diabetes Positive” and received the Michael Brennan courage award in 2009 from the CF community.

When she is at college, Sarah gets up two hours before class to perform her treatments, which involve using a mechanical vest that dislodges the mucous in her lungs. Before bed she takes a handful of pills, including antibiotics and medications to thin the mucous.

“I’m not afraid to share that I have CF and diabetes,” said Sarah. “There are four of us students who are really close and work together [on projects]. There is an 8-foot ladder to reach the equipment in their 12-foot ceilings. It’s dubbed the Sarah Yourman ladder,” she said with a smile. “When I first got there I would not get on the ladder, but I got over the fear of ladders. We also have a cherry picker in the department, for the main theater, and I went up in it,” she said.

Growing up, Sarah was a competitive free-style skier, a sport that involves jumps and aerial stunts. Now she focuses on downhill skiing and has recently taken up snowboarding. Throughout the winter, Sarah and her father work as ski coaches at Wyndham Ski Resort. “I usually go skiing every weekend from December until mid-March,” she said. “This year I have so much going on that I just go whenever I can.”

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Jeffrey Yourman demonstrates the mechanical vest. MIRYAM WAHRMAN

She still laments the season she missed when she was 16 and had scoliosis surgery. “I have two titanium rods and 16 screws in my back,” she said, adding with a smile that this coincides with her birthday, which is Feb. 16 (2/16).

When Sarah is home, she gets chest physical therapy, which Jeffrey still gets 365 days a year. “The kids get beaten on every day,” said their mother. A physical therapist drums the chest and back with cupped hands to dislodge excess mucous and relieve breathing. The treatment, which may be needed several times a day, lasts about 45 minutes. For Sarah, being home also frequently involves intravenous antibiotic treatment to counteract infections she may have picked up at school.

Since many CF children have growth issues, both Sarah and Jeffrey were prescribed growth hormone. “Jeffrey, who started at an earlier age, is still on it,” said Yourman. “His predicted height was 5 feet, and he is now 5 feet 7 1/2 inches.”

Jeffrey and Sarah have both participated in camps and trips sponsored by Chai Lifeline, Camp Simcha, and a new organization called Kids of Courage. Those organizations provide mechanisms for Jewish children with serious medical needs to enjoy camping and travel experiences. “In March 2009 Jeffrey took a fully paid trip to L.A,” said Yourman. “The camp takes care of medicine, therapy, etc. They are phenomenal in every way in dealing with medical issues.”

Although Jeffrey’s approach to dealing with CF is “don’t think about it,” he displayed remarkable patience and willingness to discuss his experiences. A sophomore in high school who just turned 17, Jeffrey is excited about getting his driver’s license. He loves to play basketball and is a Lakers fan. For Jeffrey, the Make-A-Wish Foundation sponsored their family for a Hawaiian cruise last year. His favorite part of the trip was driving a dune buggy.

The Yourman children do not have activities together with other CF teens. “Because of cross-infection, CF kids are not allowed to hang around together,” said Yourman. “Jeffrey doesn’t have much contact with other kids who have CF since it presents a risk that they will transmit infections to each other.”

“Whatever your kids want to do, don’t say no,” Yourman advised. “The only time our doctor said ‘no’ was when Sarah wanted to go to EMT school and volunteer on the ambulance,” because of the risk that she would be exposed to infections.

“A normal life is whatever life you lead that brings satisfaction to you and inspiration to others,” Sarah said. “I lived it all my life, so I don’t know how to live it any other way.”

Information on the clinical trials for Ataluren can be found at www.ptcbio.com. Information on CF can be found at the Website of the Cystic Fibrosis Foundation, www.cff.org

Miryam Z. Wahrman is professor of biology at William Paterson University in Wayne. She has done research and written extensively on bioethics and biomedical science.
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More on: New hope for patients with cystic fibrosis

 
 
 

Clinical trials of Ataluren

To be considered for the clinical study on the new drug Ataluren, originally called PTC124, CF patients “must know their genetic mutation,” said Teaneck resident Dr. Jay Barth, executive director of clinical development at PTC Therapeutics, Inc., the South Plainfield-based company that is beginning Phase III trials for the new drug. Barth, a Teaneck resident, explained that “many patients already know their mutation. If not, they have to have genetic testing.” Patients who carry at least one copy of a nonsense mutation (see below) may qualify. Also, patients must be at least six years of age, and have lung functioning within a certain range.

Cystic fibrosis can be caused by many different forms of mutations in the CFTR gene. The CFTR gene makes a protein that normally handles the movement of salt across membranes and the secretion of fluids and mucous. Since fluid management and mucous play important roles in many critical organs, CF can affect the lungs, liver, pancreas, reproductive structures, and sweat glands.

 
 

Israeli scientists take extraordinary measures to conquer CF

The recent film “Extraordinary Measures” tells the real-life tale of a family with two children who are suffering from a fatal genetic disorder. Their father takes drastic steps to encourage and support the work of a brilliant scientist, whose insight leads to a miracle drug that saves the lives of the children. The CF story may have a similar path to a happy ending — with the work of some extraordinary Israeli physicians and researchers leading to a new approach to cure CF.

The CFTR protein is the source of all problems in cystic fibrosis. CFTR stands for cystic fibrosis transmembrane conductance regulator. Its normal function is to move salts across cell membranes throughout the body — a process that is essential to the proper functioning of the lungs, kidneys, pancreas, and other organs, as well as the normal growth and development of the vas deferens, a structure that transports sperm in men.

 
 
 
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Sending socks to the IDF

Teaneck rabbi to bring much-needed supplies to soldiers in Israel

Rabbi Tomer Ronen, rosh yeshiva of Ben Porat Yosef in Paramus, and his wife, Deganit, are the proud parents of a son in the IDF.

Their son, a 20-year-old who went all the way through SAR in Riverdale and then went to Israel, where he studied at a yeshiva for a year and then joined the IDF exactly a year ago, is in a parachute unit. “For the last three weeks, they were training and training and training,” Rabbi Ronen said. Last Thursday, “he called and said, ‘Abba, Ima, we are out. We are giving away our cell phones.’ So we knew that it was happening that night.”

So now the Ronens are both proud and worried parents; worried enough, in fact, to decide that they could no longer sit at home in Teaneck and worry. “To be the parents of a lone soldier is hard,” Rabbi Ronen said. “To be the parent of a lone soldier and know that he is going in — that is even harder.”

 

Passage to India

Local academic finds Jewish parallels in Hindu university

Dr. Alan Brill of Teaneck faced his students.

The classroom reminded him of British Mandate era buildings in Jerusalem. It obviously had been built in the 1940s, or at least refurbished then. All the desks had inkwells.

Among the students earnestly taking notes were three Buddhist monks from Cambodia wearing orange robes; two Tibetans, one of whom looked like a Sherpa in his yak-wool vest; an Australian Christian dressed like a hippie trying to dress like an Indian, and several Indians dressed in modern clothing. Up front, wearing a traditional long golden coat, was the professor of Hindu religion and philosophy who normally taught this course. He was particularly diligent in his note-taking.

The day’s topic was the Bible.

 

From the Union to the Union

Rabbi Daniel Freelander of Ridgewood moves from one Reform institution to head another

Rabbi Daniel Freelander of Ridgewood is an avuncular, charming, modest man. To talk to him is to feel entirely at ease.

And then you realize that you are talking to someone who has been instrumental in the development of liberal Judaism — in both the way it looks and operates, and even more profoundly in the way it sounds.

Rabbi Freelander, 62, is leaving his comfortable berth as senior vice president at the Union for Reform Judaism — the organization for which he has worked in various capacities for 39 years — to become president of the World Union for Progressive Judaism. In some ways the move is minor — the two organizations share a floor in a midtown Manhattan office building, and Rabbi Freelander is keeping his office. But in other ways it is huge — his responsibilities go from national to international, and from the Reform movement to the larger liberal world, of which Reform Judaism is a significant — but not the only — stream.

 

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‘Stop at the Red Apple’

Founder’s daughter talks about her childhood at the Route 17 landmark

It’s one of those absolute generational and geographic divides.

If you are from somewhere other than here, or if you are below, say, 40 or so, the Red Apple Rest means nothing to you.

But if you are from here, defined very broadly, and if you are at least nudging middle age, then even if you never actually went there, your memory will conjure up images of that iconic place. It was what? A diner, sort of, or more accurately a cafeteria, a rest stop on the way up to the mountains. (And if you have to ask which mountains, then never mind. It’s the Catskills, dear. Now go and play while we grown-ups talk…)

The Red Apple Rest — the never-closed oasis that drew motorists off the macadamed hell that was Route 17 as they made their almost endless way to their vacations or summer bungalows — was created by Reuben Freed, who made it his life and loved it dearly. Elaine Freed Lindenblatt, 72, who lives in Tappan, N.Y. and is the youngest of Mr. Freed’s four children, has written a memoir, “Stop at the Red Apple,” chronicling the family’s life there. Its publisher, SUNY Press, will release the book in January.

 

From the Union to the Union

Rabbi Daniel Freelander of Ridgewood moves from one Reform institution to head another

Rabbi Daniel Freelander of Ridgewood is an avuncular, charming, modest man. To talk to him is to feel entirely at ease.

And then you realize that you are talking to someone who has been instrumental in the development of liberal Judaism — in both the way it looks and operates, and even more profoundly in the way it sounds.

Rabbi Freelander, 62, is leaving his comfortable berth as senior vice president at the Union for Reform Judaism — the organization for which he has worked in various capacities for 39 years — to become president of the World Union for Progressive Judaism. In some ways the move is minor — the two organizations share a floor in a midtown Manhattan office building, and Rabbi Freelander is keeping his office. But in other ways it is huge — his responsibilities go from national to international, and from the Reform movement to the larger liberal world, of which Reform Judaism is a significant — but not the only — stream.

 

Passage to India

Local academic finds Jewish parallels in Hindu university

Dr. Alan Brill of Teaneck faced his students.

The classroom reminded him of British Mandate era buildings in Jerusalem. It obviously had been built in the 1940s, or at least refurbished then. All the desks had inkwells.

Among the students earnestly taking notes were three Buddhist monks from Cambodia wearing orange robes; two Tibetans, one of whom looked like a Sherpa in his yak-wool vest; an Australian Christian dressed like a hippie trying to dress like an Indian, and several Indians dressed in modern clothing. Up front, wearing a traditional long golden coat, was the professor of Hindu religion and philosophy who normally taught this course. He was particularly diligent in his note-taking.

The day’s topic was the Bible.

 
 
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