Although the term is known in the Jewish community, much of the general population probably hasn’t heard of Gaucher disease. The rare genetic disorder can affect anyone, regardless of their ethnicity, but it most commonly affects Ashkenazi Jews.
According to its page on the National Institute of Health website, Gaucher occurs in one in 50,000 to 100,000 of the general population. For those with Ashkenazi Jewish heritage, it affects one in 500 to 1,000 and one in 15 are carriers, according to the National Human Genome Research Institute website. Worldwide, it affects around 10,000 people.
But what exactly is Gaucher? Named after French doctor Philippe Gaucher, the disease can simply be defined as an inherited disorder that can affect various body organs and tissues.
In more specific terms, Gaucher disease is inherited in an autosomal recessive pattern (both parents must be carriers) that involves mutations of the GBA gene, which reduces beta-glucocerebrosidase enzyme activity. A lack of this enzyme results in toxic levels of glucocerebroside and various other substances in the cells.
People with Gaucher can experience no symptoms to many, including liver and spleen enlargement, bone abnormalities, a low red blood cell count, fatigue and easy bruising. If left untreated, the disease can be fatal. Type I is the most commonly inherited (there are three) and can emerge at any age.
In the past, the disease was hard to detect because most doctors, aside from genetic specialists, really didn’t think to look for the disease and had little knowledge and no experience with Gaucher-affected patients. Now, the disease can be detected early through a simple blood test.
October is Gaucher Awareness Month, which means many organizations are taking part in fundraisers and events to promote awareness of the rare disease. An example is the Genzyme Corporation, a leading biotech company that provides treatment for those with rare diseases. The treatment for Gaucher is enzyme replacement therapy that requires life-long intravenous infusions every two weeks.
This year, in support of Gaucher awareness and the National Gaucher Foundation (NGF), Genzyme is sponsoring the second annual Steps Ahead of Gaucher campaign, which involves distributing free green shoelaces to those who want to show support for people and families affected by the disease.
NGF, which is based in Georgia, collaborates with many other organizations around to country to promote Gaucher awareness as well.
But who are the people affected by this disease? Well, they’re regular people living normal lives, who’ve just had to make some adjustments. Two women recently shared their stories about living with Gaucher disease.
All of the sudden
College student Stacey Feuer had been healthy all of her life. While she was pursuing her undergraduate degree at Penn State, out of nowhere she began to experience unexplainable health problems, which included sharp joint and bone pain and fatigue.
When she went to the doctor, test results showed that her liver and spleen were severely enlarged. Feuer says that the sudden onset of the disease was misdiagnosed a number of times by medical professionals at the hospital, who thought it may have been a staph infection or leukemia.
Feuer describes the period of not knowing as frightening for both herself and her family. When the doctors were finally able to determine she had Gaucher, “the fact that it was treatable was very encouraging,” she says.
She ended up going back to Penn State to complete her senior year, which was a time she says involved balancing a college life (she had just turned 21) and a new illness.
Sixteen years later, Feuer, who is a Cerezyme (Type I treatment drug) patient, manages to balance her schedule to make time for treatment every other week. The Florida resident is currently pursuing a doctoral degree in clinical psychology, with a focus on the emotional impact of chronic diseases. Her prospective career path is a direct result of her Gaucher diagnosis.
“One of the things that really helped me was reading about Gaucher and chronic illness in general,” she says. “It really validated what I was experiencing.”
“You may never meet someone who has what you have,” she continues. “Reading about experiences helped me, so I want to help other people in that situation.”
Feuer’s message to those recently diagnosed with Gaucher is to seek out specialists who are knowledgeable about the disease, as she says most doctors aren’t familiar with it. Her second piece of advice is to connect with the community, to free themselves from isolation and get support.
“It’s important for them to talk to other people who are going through what they’re going through.”
The fight to live
A couple states apart, North Carolina resident Chris Lang had a much different experience with Gaucher. Like Feuer, Lang had been relatively healthy when she was younger. But after she underwent routine blood work when she lived in Tennessee 26 years ago, her doctor noticed she had a low platelet count.
She then continued to undergo blood tests, until her doctor found she had a very enlarged spleen. As it was a strange finding, her doctor got in contact with a hematologist/oncologist, who suggested she have a bone marrow biopsy to rule out blood cancers. Lang later described the biopsy as “an apple core down your back.”
Lang still remembers the day when she was diagnosed with Gaucher, which back then was untreatable. She had just put her two children on the bus to go to school when her doctor called her to tell her the news. She says he bluntly informed her she had this genetic disease, and she was going to die.
“You’re just kind of stunned at first,” she says. “All of these things go through your mind. I wasn’t even that horrified until he said ‘We have to test your children.’ ”
Since she finally knew her condition, Lang and her family visited genetics specialists at Vanderbilt University so they could get tested. One of the specialists was Jewish, and used Lang’s husband as a control group. Her husband came back as a carrier, but wasn’t at risk for developing the disease.
“It was very draining as a mother,” she says. “I had to stay alive because I needed to take care of these two kids.” Lang says she did some research on the disease and always found depressing information. All of the outcomes she read about didn’t end well and that’s all the information she had. There was no one else to talk to who knew exactly what she was experiencing.
Coincidentally, Lang was closer to someone like her than she thought. Before the FDA approved a Gaucher treatment in April 1991, Lang says during drug trials, she met a woman suffering from the disease. It turns out the woman had grown up in the same hometown as she. Her disease had affected her since childhood and was much more symptomatic, but Lang says it was odd to find out two people with the same rare disease had been living so close to each other.
After the treatment was approved, Lang says she had her first treatment in May 1991. She was one of the first people to ever undergo treatment.
While the treatment didn’t do exactly what doctors had expected, it did successfully shrink Lang’s liver and spleen. Her kidney, which had been displaced and was crushing her stomach, was finally put back into place. One of her first improvements was that she was finally able to eat real food again.
Before treatment, Lang had been unable to do many things that required minor physical activity. In taking the treatments, she began to notice she wasn’t as tired as she used to be. She describes her past fatigue in a way that her “children learned very quickly to make their own dinner.” Then, she remembers, “this one day, I did three things. To me that was huge.”
While Lang, 57, is now able to partake in many more daily activities than before, she says there are some things she won’t ever be able to do again.
“I used to ride horses and water ski,” she says. “I don’t do these anymore because it’s too risky. I miss those things a lot, but you kind of just go, ‘Oh well.’ ”
For those who are at risk, experiencing symptoms or who have been diagnosed with Gaucher, Lang says it’s important to be proactive.
“You know your body better than anybody,” she says. “You have to be an advocate for yourself. It’s not your advantage to sit back and not know what research is being done.”
Lang currently promotes Gaucher awareness by sharing NGF videos and announcements on Facebook. Before cellphones, she says she used to educate other Gaucher patients via long-distance phone calls. Many of the patients she talked to were quite scared for their children, just as she was.
“You worry more about your kids than yourself,” she says. “That’s one of the things you want to explain to them.”
As for Lang’s children, it turned out they both happened to be just carriers like their dad. They’re not at risk for developing the disease.
For more information about Gaucher disease and awareness, go to gaucherdisease.org. For information about The Steps Ahead Campaign, go to www.stepsaheadofgaucher.com.
