Many With Gaucher Unaware of Disease


When Jewish New Yorker Joan La Belle, now 70-something, was in her mid-20s, she began to experience scary symptoms, suggesting a serious health problem: “I felt exhausted, had rough menstrual periods with very heavy bleeding and terrible nose bleeds.”

She also suffered substantial hemorrhaging in childbirth, she said in a recent telephone interview from Minneapolis, where she has been a longtime resident.

Hemorrhaging and an enlarged spleen — another of her symptoms — are often misdiagnosed as leukemia, and bone pain is often mistaken for arthritis, so La Belle said that she really didn’t know the actual cause of her symptoms for years.

Finally, 15 or 20 years ago, a Jewish physician filling in for her regular internist correctly recognized her enlarged spleen as an indicator of Gaucher (pronounced go-SHAY) disease, to which Jews are especially susceptible.

Gaucher is sufficiently rare that many doctors weren’t and still aren’t aware of it. And when LaBelle was diagnosed, “they were just doing research, and there was not a glimmer of hope” for a treatment, she said

But then, medical researchers produced the enzyme regimen that LaBelle needed, and for the last 12 or 13 years, she has received regular infusions that have dramatically improved her life, she said. These enzyme treatments completely control her symptoms, LaBelle reported.

“Prior to the [enzyme therapy], I used to have hemorrhaging and my hemoglobin was very low,” she said. “But, now it’s normal.”

LaBelle receives intravenous infusions of the latest formulation of the enzyme, called Cerezyme, at a local Minneapolis hospital every other week. It takes 60 to 75 minutes, she said. The length of time per patient varies, depending on the number of units a patient needs.

LaBelle said “every couple of months” she has a “bone crisis,” which is an event of intense pain that occurs because of a sudden lack of oxygen in an area where Gaucher-affected cells have interfered with normal blood flow. The episode can last for hours or days. She said she treats the pain with medication.

Based on statistical probability, half of the Gaucher patients at the Lysosomal Diseases Treatment Center at Children’s Hospital of Wisconsin should be of Ashkenazi (Central and Eastern European) Jewish heritage.

In fact, however, only one of the eight Gaucher patients, though not Jewish, believes he has Ashkenazi ancestry. The reason could be the lack of knowledge about the disease, said genetic counselor Amy White, who works at the Lysosomal Diseases Treatment Center.

This means that many people who are at risk or suffering have not been diagnosed or treated. The disease is not thought to be life threatening, but it’s chronic and painful and doctors frequently mistake the symptoms for something else. However, even when it’s recognized, treatment remains extremely expensive.

The undiagnosed cases are probably due to “a lack of awareness among both medical and lay communities,” according to the National Gaucher Foundation (NGF).

So this year for the first time, the NGF designated a “National Gaucher Disease Awareness Month” in the hope of educating health-care providers and the public about the importance of recognizing the signs and symptoms of the disease. The results of this effort, which took place in September, are not conclusive, but researchers and advocates especially wanted to reach the Jewish community, where this often painful and debilitating — but highly treatable — disease is most prevalent.

According to the National Gaucher Foundation, Gaucher disease occurs when a person inherits a mutated gene from both parents, but if the person inherits a mutated gene from one parent and a normal gene from the other parent, he or she will not have the disease but may be a carrier. A carrier may pass the gene on to the next generation, depending on the genetic makeup of the person he or she marries.

White said that the Lysosomal Treatment Center has a lot to offer Gaucher patients, in addition to the life-changing Cerezyme infusions. Despite being located in Children’s Hospital, the genetics center, headed by Dr. William J. Rhead, chief of the generics department, does not limit its services to children.

“We see any individual or family who has a genetic condition,” White said. “We provide an initial evaluation and make recommendations as to specialists in Gaucher disease.”

The center also provides semiannual or annual evaluations of the course of a patient’s disease, as well as its treatment. It takes X-rays, does bone MRIs and CTs of the liver and spleen and conducts specialized blood tests for Gaucher Disease markers. These tell a patient how the disease is progressing and whether the Cerezyme dosage is adequate.

In addition, the center provides genetic counseling to couples contemplating pregnancy, as well as to expectant parents. It also counsels patients and their families on the psychosocial aspects of the disease.

The genetics center can assist Gaucher patients with medical insurance issues, an important service because of the cost of Cerezyme.

A version of this article was first published in the Wisconsin Jewish Chronicle.

 

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Artist Depicts Pain of Genetic Ailment


 

When he was 6 years old, Los Angeles artist Ted Meyer had two life-changing experiences. He won his first art show prize after copying a flamingo drawn by an older friend. Secondly, he was diagnosed as suffering from Gaucher Disease after intensive bouts of pain in his knees and hip bones.

“It felt like someone was slowly breaking your bones for days on end,” Meyer recalled.

Initially, his parents took him to several hospitals in the New York area, where puzzled doctors shook their heads and warned that they might have to amputate the boy’s legs. Finally, a European intern at Mount Sinai Hospital recognized the symptoms of Gaucher Disease, but in the absence of any effective treatment at the time, all he could prescribe were painkillers.

Over the next year, Meyer’s stomach distended, he was constantly fatigued and he bruised and bled easily. Doctors removed his large spleen when he was 7, but that offered little relief. And his persistent nosebleeds seemed only to worsen.

“I didn’t go to school much, and I was the smallest kid in my class,” the 47-year-old Meyer remembered. “I had to stay in hospitals three or four times a year, and there were some weeks when I couldn’t move my legs at all.”

Meyer’s grandparents had emigrated from Lithuania, Poland and Russia. His parents were carriers of the abnormal gene that can cause the disease, but they were not affected. Meyer’s older brother has Gaucher Disease, too, but a third brother never got it.

Between bouts of pain and hospitalization, Meyer developed his painting skills and eventually got a bachelor’s degree in design at Arizona State.

His early works reflected his own physical struggles, and in the series “Structural Abnormalities,” he depicted painted contorted structural images.

“I was at war with my body, and these paintings expressed my trapped and isolated feelings,” he said. “My condition was so rare that there was no one I could talk to about it.”

In his early 30s, Meyer underwent two sets of hip replacements, but 10 years ago, he started receiving the new enzyme replacement infusions and within six months showed dramatic improvement.

Now living in a combination apartment and studio at the Brewery Arts Complex in downtown Los Angeles, Meyer is a well-known graphic designer for magazines and Web sites and has written four popular books.

One of his eye-catching “Structural Abnormalities” paintings is on the cover of “Message to Elijah,” an educational video on Gaucher Disease narrated by actor Elliott Gould.

Every two weeks, Meyer visits a doctor for enzyme therapy, though “after 10-12 days, I usually get tired and feel some pain,” he said.

Long-haired and slim, Meyer would be taken as a healthy specimen on the surface, and he usually doesn’t mention his affliction. One reason, he said, is that New Age devotees in California, who like almost every one else have no idea what Gaucher is, usually advise him to just take some herbs for his problem.

A major hurdle facing many Gaucher patients is the huge cost of the treatments, which can run to $200,000 a year.

“I am lucky that I have insurance through an authors’ group, but even so, you can reach the $2 million lifetime cap in 10 years,” Meyer noted.

Meyer is among an estimated 1,000 Los Angeles-area Jews of Ashkenazi descent with Gaucher Disease. Experts estimate that only about one in 10 is receiving proper treatment. Approximately 50,000 area Jews are carriers of the defective gene and could pass the disease to offspring.

The chief reason for the low treatment rate is that many Los Angeles doctors, including Jewish physicians, are not trained to recognize the symptoms of Gaucher, said Dr. Barry Rosenbloom, a UCLA professor and director of the Comprehensive Gaucher Treatment Center at Tower Hematology Oncology. The center is listed by the National Gaucher Foundation as the primary treatment facility in the Los Angeles area.

“Once correctly diagnosed through a simple blood test, Gaucher patients can be restored through treatment within one year,” Rosenbloom said.

The Comprehensive Gaucher Treatment Center is located at 9090 Wilshire Blvd., Beverly Hills, (310) 888-8680.

Detailed information about the disease, as well as financial assistance, is available through the National Gaucher Foundation. Call (800) 925-8885, or visit www.gaucherdisease.org.

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Coping With Cancer Proves Family Affair


In the first moments after Lori Marx-Rubiner was diagnosed with breast cancer last year, several fears ran through her head. The Jewish community social worker, who was 35 at the time, wondered about her mortality and worried about the prospect of pain and nausea induced by treatment. However, her deepest concern centered on her then 3-year-old son, Zachary.

Telling her son about her illness was "by far the most difficult thing I’ve ever had to do in my life," Marx-Rubiner said. In the five days between undergoing a biopsy and receiving the results, Marx-Rubiner and her attorney husband of 15 years, John, agonized over how to appropriately share such news with their son.

After fruitless searches for age-appropriate books, Marx-Rubiner finally found one that described cancer as a weed growing out of control. Because her son had been spending a lot of time in the garden, she seized on the metaphor to explain her illness and the ways her doctors planned to get rid of it.

"I told him it would take time, but as a family, we were all going to try and get me healthy. And his dad had the good sense to explain that cancer isn’t contagious," she said.

The candid, hopeful tone that Marx-Rubiner took is exactly the approach that mental health professionals recommend. "The more information children have, the less frightened they’re going to be," said Sally Weber, director of community programs at Jewish Family Service of Los Angeles and a licensed clinical social worker.

For example, Weber said it’s natural for children to worry about a parent dying, but parents are often hesitant to discuss the topic.

"Saying [scary] words doesn’t mean they’ll happen," Weber said, noting that parents can respond to the child’s concern by saying something like, "I’m not planning on dying."

"You can be very positive with your children even if you’re feeling very frightened," Weber said. "You can say, ‘Sometimes this scares me, but I’m doing everything I can to get well.’"

From diagnosis through treatment and beyond, communication is crucial not only with children but between spouses as well.

"In families, we all cope differently with crisis and trauma," Weber said.

Couples have to recognize one another’s communication styles and develop their own approach as a couple before the family can cope in a healthy way. For the Marx-Rubiners, "our roles were reversed immediately," the wife said. "All of a sudden, I was the one who needed to be cared for, and I needed to accept that, which was a challenge."

At the same time, she continued, "the spouse is supposed to be strong and supportive and become the caretaker and deal with their issues by themselves…. The challenge for me was to help my husband find ways to communicate with me and to know that he didn’t have to protect me from his fears and anger."

One of the places where the family explored these issues was at The Safe Spot, a one-day camp program for Jewish families with children, where a parent is afflicted with cancer. As a follow-up to this program — which was founded by Weber; Rabbi Ed Feinstein, of Valley Beth Shalom in Encino; and Carol Koransky, senior vice-president of policy, planning and community development for The Jewish Federation of Greater Los Angeles — a series of evening workshops for parents with cancer will be offered next year.

When cancer occurs, "all that used to be normal feels like it’s ended," Weber said. Routines are disrupted. Housekeeping, cooking and other care-giving responsibilities are shifted. The family structure changes. "Now there’s a new normal, and … families learn to adjust to the new normal," she said.

For Marx-Rubiner, that meant hiring a nanny to do light housekeeping, pick her son up from preschool, prepare his dinner and give him a bath. Marx-Rubiner also looked for ways to stay connected with her son, even when she wasn’t feeling well, for example, by inviting Zach to crawl into bed and watch a movie with her.

"And he had a lot more daddy time, which was a real blessing," Marx-Rubiner added.

While there’s a tendency to focus on the patient, "cancer metastasizes to everybody in the family," said Valley Beth Shalom’s Feinstein, who has battled colon cancer twice. In fact, he said, cancer’s impact reaches far beyond the immediate family.

"I watched this ripple effect go through the whole community around me, my wife, my kids, my parents, my brothers, my friends, my kids’ friends and their parents," Feinstein said. "It shakes everyone’s sense that the world is safe."

For both Feinstein and Marx-Rubiner, community support was crucial. Parents from the Adat Ari El Early Childhood Center, where Marx-Rubiner’s son attended preschool, coordinated a schedule to provide daily meals for her family. Others drove her son to school, took him to Tot Shabbat services and invited him over for dinner.

Her husband took her to treatments in the morning, but friends would drive her home and stay with her until the nanny arrived.

"That’s God at work as far as I’m concerned," she said.

Feinstein also received "tremendous love and support" from his community.

"It’s important for the community to take responsibility … and to recognize that it’s not just the patient, it’s everybody in the family [who needs support]," he said.

Looking back on their experiences, both Feinstein and Marx-Rubiner found that cancer brought unexpected gifts.

"[My family has] a keen appreciation for each day," Marx-Rubiner said. "We take nothing for granted. I’m able to recognize that a piece of grass or a weed growing in a concrete block is a

miracle."

"I gave up the idea that I have to be invulnerable," Feinstein said. "I gave up being Superman. I realized I have to share my agony and my struggles with my family."

Both Marx-Rubiner and Feinstein mentioned gaining a stronger spiritual connection.

"The things I believed in before in an abstract way, I believe in now from a much deeper place," Feinstein said.

"I don’t struggle with God anymore," Marx-Rubiner noted.

Feinstein’s advice to those dealing with cancer:

"Don’t give up. Even if you only have a little time left, you have time to do what’s important and to live big in the time you’ve got. If you don’t surrender, you will leave behind a legacy to your children of living with courage and light and humor and wisdom — and that’s why we’re here."

"I think there are tremendous blessings in all this," Marx-Rubiner stressed.

Despite all the challenges she’s faced, Marx-Rubiner is quite adamant about her experience with cancer: "I wouldn’t give it back."

For a list of resources designed for families dealing with cancer, call Jewish Family Service, (323) 761-8800, ext. 1255 .