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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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We’ve got the horse right here…

Local Orthodox family wins the Kentucky Derby. Really!

It took American Pharoah barely more than two minutes and two seconds to win the 2015 Kentucky Derby.

For Joanne Zayat of Teaneck, whose husband, Ahmed, owns American Pharoah (and yes, that is how it is spelled), those two minutes and barely more than two seconds stretched out and then blurred and bore little relation to regular time as it usually passes.

There she was — really, there they were, Ahmed and Joanne Zayat, their four children — all Orthodox Jews — and a small crowd of friends and relatives, in one of the owners’ boxes at Churchill Downs in Lexington, Kentucky, on a glorious flowering spring Shabbat, watching as their horse won America’s most iconic horse race.

How did they get there?

 

Remembering Rochelle Shoretz

Sharsheret founder, dead of breast cancer at 42, recalled, through tears, with great love

The skies were stormy last Sunday when Rochelle Shoretz, 42, succumbed to complications from breast cancer.

Rain continued falling Monday as more than 500 people gathered at Gutterman and Musicant in Hackensack to mourn and eulogize the mother of two teenage sons, who lived in Teaneck and was the founder and executive director of Sharsheret, a locally based national nonprofit organization providing health information and support services for thousands of young Jewish women living with breast or ovarian cancer.

Many of her friends and relatives said that the rainy gray horizon seemed symbolic of the great light that was leaving this world.

In his eulogy, Rabbi Shalom Baum of Congregation Keter Torah in Teaneck noted that this Shabbat’s Torah portion centers on the kindling of the eternal light in the Temple sanctuary. “It seems that, ironically, our light — Rochie Shoretz — has been extinguished,” he said. “But she would reject that conclusion categorically. … Rochie, you are already a light to so many.”

 

100 years in Hoboken

United Synagogue’s building celebrates its centennial

Hoboken is surprisingly small, given its outsize reputation.

It’s only got 50,000 residents, and its nickname, Mile Square City, is roughly accurate. (“It actually covers an area of two square miles when including the under-water parts in the Hudson River,” Wikipedia helpfully tells us. It’s hard to understand why anyone would want to count the underwater parts.)

It’s a city with a storied history — Frank Sinatra, “On the Waterfront” and therefore Marlon Brando, gangsters, music, angst, longshoremen, gritty local color. Its lack of parking, which makes finding a space in Manhattan seem relatively as easy as finding one in, say, Montana, is legendary.

For the last few decades, Hoboken’s been home to young people who work in Manhattan but don’t want or can’t afford to live there; it pulses with singles, who might make noises about staying but have tended to move once they’re married and certainly once they have kids.

Hoboken also has a more recent history of apparently being on the cusp, the verge, the very sharp tip of change, but somehow not quite making it.

 

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Local man rises above injury to start home health aide venture

Ronald Gold’s life is so dramatic that it’s hard to resist the temptation to start with a cliché.

The story of his life is about the moment when everything changed, the second that split it inexorably into before and after. The time when he almost died, when his understanding of himself in the physical world ended, when through great pain he was reborn.

But really, the person Mr. Gold became after the terrible accident that rendered him paraplegic was a logical outgrowth of the person he was before. His integrity, athleticism, ambition, courage, tenacity, brains, competitiveness, and strength — as well as, yes, his deep Jewish connections — not only saved his life but allowed him to embark on this next part of it.

 

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Mahwah rabbi forms coalition to help cut back on gun violence

It would have been entirely understandable if Rabbi Joel Mosbacher wanted to ban all guns. Just collect them all, melt them into a lump, and be done with it.

Rabbi Mosbacher’s father, Lester Mosbacher, was eulogized as a “gentle soul” in 1992; he died, at 52, after he was shot by a burglar who was holding up his store on Chicago’s South Side.

His murder was the textbook definition of pointless — Mr. Mosbacher was shot in the head and arm by a petty thief who got nothing from the robbery and was tried, convicted, and then released for retrial, which never happened. Nothing ever happened, except that Mr. Mosbacher remained dead.

For years, Rabbi Mosbacher, the spiritual leader of Beth Haverim Shir Shalom in Mahwah, bottled his rage. And then, just a few years ago, he took its distilled essence, nourished by news stories of other shootings, equally senseless, like his father’s murder causing sudden, catastrophic, and lifelong pain to survivors as their own lives had to reweave themselves around a gaping hole, to lead a new campaign.

 

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Rabbi Mosbacher reacts to the Charleston massacre Last week’s shooting at the Emanuel A.M.E. church in Charleston, South Carolin

Last week’s shooting at the Emanuel A.M.E. church in Charleston, South Carolina, which left nine people dead after their murderer, Dylann Roof, sat with them at Bible study for nearly an hour before spouting racists tropes as he gunned them down, has brought the issue, which always simmers just below the surface, to an angry boil.

“On the one hand, Charleston is another in a series of mass shootings that seem to happen almost weekly at this point,” Rabbi Mosbacher said. “That speaks to part of the core of this problem, which is access to guns. People will say all sorts of things. They say it is a question of mental health. Yes, it is — but it’s not fundamentally about mental health. I don’t think that we have significantly more mental health problems here than in Europe.” But laws controlling gun ownership are far more stringent in the rest of the Western world, and the numbers of shootings are correspondingly lower.

 
 
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