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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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Bus, bomb, book

Local reporter investigates personal and political repercussions

According to Jewish tradition, every person is an entire world.

The death of any one person is the disappearance of that world, and all the other touching, interlocking worlds are left infinitely poorer.

Mike Kelly of Teaneck, a columnist for the Bergen Record, has been in a small room with a man who killed 46 people in three separate bombings. A man who obliterated 46 separate worlds. And who seems to be proud of it.

Mr. Kelly has written a book, “The Bus On Jaffa Road,” that focuses on one of those bombings, the one on the Jaffa Road in Jerusalem in 1996 that killed 26 people, including Sara Duker, also of Teaneck, and Matthew Eisenfeld, her boyfriend, who came from West Hartford, Connecticut. He also focuses on Steven Flatow of South Orange, whose daughter Alisa was killed in another bus bombing the year before, and who was instrumental in the story as it unfolded.

 

At the heart of Touro

Alan Kadish leads America’s largest Jewish university

Few children, if any, dream of growing up to become university presidents.

Dr. Alan Kadish of Teaneck certainly didn’t.

Instead, the childhood dream that led him to the presidency of Touro University began with the death of a beloved uncle.

“My mother’s brother, a strapping man in his 50s, had a sudden cardiac death when I was 15,” Dr. Kadish, 58, remembered.

“That was a problem I wanted to study.”

Alan Kadish, the son of a father from the Lower East Side and a mother from Vienna, went to Yeshiva University’s MTA high school. He then attended Columbia University, where he majored in biochemistry, and he followed that with a medical degree from Yeshiva University’s Albert Einstein College. His specialty, of course, was cardiology: helping to prevent and treat heart attacks. After a residency at Brigham and Women’s Hospital in Boston, he took a fellowship at the Hospital of the University of Pennsylvania.

 

The father of Jewish Home Family retires

Charles Berkowitz, visionary creator of compassionate services for the elderly, looks back

In 1970, when Charles P. Berkowitz of Glen Rock became assistant administrator at the Jewish Home and Rehabilitation Center in Jersey City, President Nixon was sending troops to Cambodia, antiwar riots were roiling college campuses, and the New York Marathon was making its debut.

Chuck Berkowitz, just 29 at the time, already had a vision far beyond that decade. He anticipated and implemented forward-thinking approaches to elder care that have earned him many awards and approbations in the past 44 years.

At the Jewish Home’s annual gala dinner last Sunday at the Rockleigh Country Club, he was feted upon his retirement as president and CEO of the Jewish Home Family, a position he held since June 2009. He became CEO of the Jersey City site in 1982. The facility, founded in 1915 as the Hebrew Orphans Home of Hudson County, moved to Rockleigh in 2001 as Hudson’s Jewish population declined.

 

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A time to mourn

Remembering Rabbi David Feldman

There were about 1,000 people at Rabbi David Feldman’s funeral.

There are many things to say about Rabbi Feldman, who died last Friday at 85, but that statistic is a good place to start.

David Michael Feldman was a pastoral rabbi, a scholar, a medical ethicist, a serious and authentic Jew, a formal and generous and devoted family man, and the rabbi emeritus of the Jewish Center of Teaneck.

And he was beloved.

 

A time to mourn

Too many funerals

As the sun set last Yom Kippur, Dr. Lawrence David Zigelman stood next to his ailing 94-year-old father, Rabbi Abraham Zigelman, and recited every word of the closing Ne’ilah prayer aloud with him in the back of the sanctuary at the Young Israel of Fort Lee.

When the synagogue’s rabbi, Neil Winkler, asked his best friend why he had done this, Dr. Zigelman responded, “I don’t know how many more Ne’ilahs I will have with my father,” Rabbi Winkler recalled.

It was, in fact, the final Ne’ilah that either man would recite.

The Zigelman family is reeling from the deaths of father and son just 12 days apart — the 66-year-old pediatrician on November 7 and the retired pulpit rabbi on November 19. They now lie side by side in Jerusalem’s Har Hamenuchot cemetery.

 

From Assyria to Iberia

Even in prophetic period, Israelites were part of the larger world, local Assyriologist says

We Jews are used to thinking of the ancient land of Israel as set in the middle of vast stretches of desert, and of the Israelites as living more or less alone there, relatively unaffected by their neighbors.

Yes, there were skirmishes with neighbors, occasional raids down from the hill country, some fights over borders, but on the whole Israel was separate, the undisputed center of its world.

Well, that’s not really true, according to Dr. Ira Spar of Suffern, N.Y. Dr. Spar, who is a professor of ancient studies at Ramapo College of New Jersey in Mahwah, is also the Metropolitan Museum of Art’s research Assyriologist. (Isn’t that the most wonderful job title?) In that capacity, he is part of a team that put together “Assyria to Iberia at the Dawn of the Classical Age,” an exhibit on display at the Met until January 4.

 
 
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