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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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Stay tuned for the return of comments

 

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.”

 

Blue and white moon

Israeli lunar mission makes stop in Paramus

In the May 1944, Itzhak Bash and 299 other Jewish engineers were removed from Auschwitz and taken to work at a Volkswagen factory that was assembling the V-1 flying bomb.

He had been a textile engineer in Hungary before the Nazis invaded and deported the Jews, but the Germans didn’t need his specific technical skills; they wanted slave laborers they could trust with careful work. The first V-1s from occupied France landed on London on June 13, 1944. As the Allies pushed into France, Mr. Bash was switched to work on the V-2, the first rocket to reach the edge of space. By the war’s end, more than 3,000 V-2 rockets had been launched.

Mr. Bash was one of the lucky hundred men who had survived from the original group of 300 engineers. Some were killed by Allied raids; others by the conditions at the work camps.

 

‘Come on over…’

As summer starts, we look at the Palisades Amusement Park through the eyes of its longtime publicist, Sol Abrams

“Palisades has the rides... Palisades has the fun... Come on over.

Shows and dancing are free... so’s the parking, so gee... Come on over.”

Suppose, just for a moment, that you might want to take an elephant water-skiing.

(No, don’t ask why. That’s a question for another time. Just go with it.)

Okay. So you’ve got the elephant. You’ve got a body of water big enough for it — the Hudson River.

Oh, and you happen to be on 30 acres that span Cliffside Park and Fort Lee, in southern Bergen County, not far at all from the river — but the direction to the river is less east than it is down. Straight down a jagged cliff. (It’s not called Cliffside Park for nothing.)

 

RECENTLYADDED

Community stands with Israel at bergenPAC

So very many people! So very much energy! So many Israeli flags! So much passion that it sizzled!

Those are the overwhelming impressions from the Israel solidarity rally organized by the Jewish Federation of Northern New Jersey in Englewood last week.

The 1,370-seat bergenPAC theater was, well, packed; so were overflow rooms inside the theater, and unlucky seatless latecomers milled about in the street. Dr. Zvi Marans, the federation’s president, estimated the crowd at about 2,000. The crowd’s size was even more impressive given the short time in which it was pulled together — the rally had been organized in just two days.

Security was formidable — police officers with dogs checked out the area, beginning well before the rally, and visitors’ bags were opened and bodies were wanded as we went in. As the rally opened, the federation’s CEO, Jason Shames, warned us that it was not impossible that there might be some attempts made to disrupt it. If someone started shouting, we were to remain quiet as security dealt with the problem.

 

No light yet

‘Remember – she’s 2’

Although this community does not feel the barrage of rockets, the adrenaline and strain of IDF service, the upside-down-ness of life after a sudden recall to active service, the sleepless worry of parents, the responsibility of hundreds of innocent deaths on the other side, or the uncertainty of the outcome of the situation in Gaza, many of us have deep connections to Israelis, and even more of us want to help in any way we can.

Here are some stories of how this community – and remember that New Jersey is about the size of Israel – is reacting. These stories are just a few of very many, but we think that they are both representative and illustrative.

Please note that we have been careful not to include too much information in these stories. We have not said anything about where IDF members are serving, or what they are doing – or even given their names. We know that the IDF does not think it safe to publicize such information, and we comply with that request willingly.

 

No light yet

‘He meant to live his life’

Ilan Vakhnin, principal of the Shakim High School in Nahariya, is on the steering committee developing policy and programming for th Partnership 2Gether, a sister city relationship between the Jewish Federation of Northern New Jersey and Nahariya, a city in southern Israel.

He was part of a six-person delegation, in town for a few days of meetings, when his cell phone rang.

On the other end, his daughter was crying so hard that he had to tell her to stop it if he was going to be able to understand what she was telling him. Eventually, she was able to get the message out.

 
 
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