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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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Jersey City Boy

Mayor Steven Fulop tells his story — and his immigrant parents schep naches

The story of the new mayor of Jersey City is a goulash — a rich, highly seasoned, aromatic stew, full of disparate ingredients that somehow blend together.

This variant is kosher.

And for added authenticity, it’s Hungarian.

Steven Fulop’s story is both as deeply American and as fully Jewish as one person’s story could be — it is our own 21st-century version of the great American dream.

Cooking alongside it is the story of Jersey City, the state’s second largest, with a century-long history of corruption and bossism that Mr. Fulop is well positioned to turn around.

Mr. Fulop’s story starts with his grandparents. All four were born in Transylvania, the heavily wooded, mountainous, lushly beautiful region that has changed hands between Hungary and Romania. As this story begins, it still was part of Hungary. World War II came late there; his mother’s parents, the Kohns, were taken from the ghetto toward its end. His grandfather, Alexander, went to a transit camp, and his grandmother, Rosa, was on one of the last transports to Auschwitz in April 1944.

Her story is so painful that when her son-in-law, Arthur Fulop, tells it, his eyes fill, even though it is a story he has been telling for decades.

 

Take my kidney. Please…

Local cantor is living donor for beloved congregant

It’s fairly easy to say “I hope you feel better” to a sick friend.

It’s much harder to put your kidney where your mouth is, but Cantor Eric Wasser of the Fair Lawn Jewish Center did.

On February 19, he donated a kidney to his friend, Harvey Jaffee of Garfield.

Mr. Jaffee was in what his doctors “were starting to call end-stage kidney failure,” he reported. He now has a functioning kidney and will be able to resume his life, and Cantor Wasser will be able to return to his. Both, they say, feel enriched and ennobled (if temporarily weakened) by the experience.

Mr. Jaffee’s kidneys had been failing for some time, and he had trekked from doctor to doctor as he tried to get on the registry for a transplant. The screening process is extraordinarily thorough. “It’s one of the most daunting things in the world,” he said. “They send you to doctor after doctor, to check every orifice you have — and some that you don’t. Sometimes I was seeing four or five doctors a week.

 

The essence is to wake us all up

Ikar founder Rabbi Sharon Brous and local leaders talk about building a living Jewish community

Rabbi Sharon Brous radiates intensely concentrated passionate hummingbird energy in almost tactile waves.

It is hard to imagine how anyone could have done what she did — created and maintained a Jewish community that has grown wildly, attracted devoted members, brought disaffected Jews back to Judaism, juggled the tensions between tradition, innovation, accessibility, and fidelity — but once you meet her, you can see that if anyone could have undertaken that impossible-sounding feat, it would have to be her.

Ikar, the Los Angeles synagogue that Rabbi Brous imagined and shaped 10 years ago, is now a 580-plus family shul, with a 150-child preschool, a multigenerational membership, and a growing future. Rabbi Brous has garnered so much recognition and so many awards almost off-handedly — on the Forward’s 50 most influential Jews for years! On Newsweek’s Top 50 rabbis list for years, once as number one! Giving the benediction at Barack Obama’s second inauguration! — that it is hard to realize that she is only 41.

 

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The Jewish people’s 911

Local archivist collects a century of JDC photographs

Twenty-six serious men sit around the table.

Two of the men have long beards; half wear mustaches. Scattered between them are two women, one of whom, of course, is the stenographer, known only as Mrs. F. Friedman. The other is the comptroller.

The year is 1918, and the men are leaders of the Jewish community. Most, like the host of the meeting, banker Felix Warburg, and his father-in-law, banker Jacob Schiff, are Reform Jews of German origin. A couple, including those with beards, are Orthodox and from Eastern Europe. Some are rabbis; one is novelist Sholem Asch. The comptroller is Harriet B. Lowenstein.

Meet the founders of the Joint Distribution Committee of American Funds for the Relief of Jewish War Sufferers, the organization now known as the American-Jewish Joint Distribution Committee and variously as JDC or “the Joint” for short.

 

The case of the family tree

Local rabbi solves genealogical mystery

Move over Sherlock Holmes. There’s some pretty good detective work going on right here in Bergen County.

Putting together clues and puzzle-like pieces of information, Rabbi Benjamin Shull has solved what he jokingly refers to as his “semi-obsession” — the search for more branches on his family tree.

In the process, he has discovered previously unknown relatives, uncovered a direct link to a renowned Lithuanian rabbi and Musar activist, and come into possession of a beautiful, illuminated honest-to-goodness family tree.

Rabbi Shull, the religious leader of Temple Emanuel of the Pascack Valley in Woodcliff Lake, has written a memoir, “Uprooted,” detailing his journey.

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The little house in the big woods

Artist’s family remembers growing up in Fort Lee

The three children grew up in the middle of the woods.

There were acres of land all around the house; waterfalls tumbled from the rocky hills and splashed down in their rush toward the mighty color-shifting river far below. There were trees to climb, trails to blaze, rocks to scale. For half of the year, glorious canopies of trees shaded their view; when the leaves fell, the children could see the river, and the ships that steamed silently upriver to unload and then headed back south again, out to sea.

It was a perfect pastoral scene, the backdrop for a bucolic 19th-century childhood.

Then pull the camera back a bit. You’ll see that the river is the Hudson, the time the second half of the 20th century, and the town is Fort Lee.

 
 
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