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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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Dentistry in Africa

Local father-daughter duo fix teeth in Jewish Ugandan village

Kayla Grunstein’s parents, Shira and Dr. Robert Grunstein, didn’t want her to “be a brat,” Kayla said.

They wanted her to learn something about the world and her place in it, about the importance of work and the satisfaction of a job well done, about gratitude and generosity and giving.

They also were not adverse to allowing the 14-year-old some excitement and adventure at the same time.

In fact, a lot of excitement and adventure. With the Abayudaya in Uganda.

This is how it happened.

Her father, Dr. Robert Grunstein, is a dentist. He lives in Teaneck but has spent his career working mainly with lower-income children in Passaic and Paterson. He had the brilliant idea (yes, this is journalism, but some things are so clear that they just must be said, so brilliant idea it is) of buying an old fire truck and turning it into a mobile dental office. “Kids love fire trucks, and they are ambivalent at best about going to the dentist,” he said. “If you mix the two, it becomes more palatable.

 

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?

 

Born to lead

The head of the Jewish Federation of Northern New Jersey tells his story — and federation’s

Learning to cull less-than-perfect goldfish as they hurtle by you on a slimy assembly line, using your bare hands, disposing of them in garbage bags, is not a skill most nice Jewish boys acquire.

Nor is standing in the middle of an ice-cold pond in a torn wetsuit and hand-selecting the most decorative available koi, at the orders of overseas hoteliers, again with your bare hands.

Jason Shames of Haworth did both those things, during a stay on an Israeli kibbutz. Those and similar skills, oddly enough, were part of a logical progression that took Mr. Shames from the Bronx to the helm of the Jewish Federation of Northern New Jersey, a job he accepted four years ago this week.

 

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Zahal Shalom brings Israeli veterans to Ridgewood for touring, love

What happened when the alarm went off in the Pentagon was a reminder of one of the reasons local volunteers behind Zahal Shalom are so eager to open their homes, their schedules, and their wallets to 10 wounded Israeli veterans each year.

During their two-week stay, the Israelis get to see New Jersey, New York, and Washington, D.C.

In Washington, they visited the monuments, ate in the Senate dining room, and took a tour of the Pentagon, where — and this was not on the five-page itinerary — a fire drill caused alarms to clang loudly.

For Anat Nitsan, the alarm brought back memories from the Yom Kippur war, more than 40 years ago. Now an art curator, then she was a soldier at the air force base at Sharm el-Sheikh, at the southern tip of Sinai. She survived the initial surprise attack from the Egyptian air force. And then, in a case of friendly fire, she watched in horror as a missile seemed to target her directly. Somehow she survived that too — though not without a case of post-traumatic stress disorder.

 

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?

 

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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