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Lighting up a room

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07/13/2015

Lighting up a room photo

Michelle's high school graduation from Keshet in 2012.

Every now and then, I think about a little girl I was lucky enough to meet when I first started working at JUF News.

At the time, in 2001, Michelle Rappaport was just 5 years old. That afternoon when I visited her family's Buffalo Grove home, a happy little girl jumped off her school bus, bounded through the door, and wrapped a great, big hug around my leg, even though we'd never met.

"The room lights up when she comes in," Michelle's mom, Barrie, told me at the time.

I met Michelle and Barrie as part of a story I was writing about heroic families, whose children were afflicted with Jewish genetic disorders. Michelle suffers from a rare neurological illness called Familial Dysautonomia (FD), an autosomal recessive disorder -- meaning the disease is passed down through two carrier parents -- found almost exclusively in the Ashkenazi Jewish population. The average life span for people with the disorder is 40 years.

For those with FD, like Michelle, the sensory system doesn't do its job properly. If she touches a hot stove, her nerves don't alert her to remove her hand and she could easily burn herself without realizing it. The autonomic system -- which regulates body temperature, blood pressure, and swallowing -- doesn't function properly either. Finally, the "bells and whistles" sign of FD is crying without tears.

That day, when I met the Rappaports, Barrie informed me that she had read two articles about FD when Michelle was a baby, pre-diagnosis. All the symptoms they described matched her daughter's.

It was only then, after Barrie read those articles, that she and her husband were able to diagnose her daughter's illness. "I remember sitting there frozen, thinking this is my child, this is my child," Barrie recalled.

One of those articles, Barrie told me, had appeared in JUF News. It was a lightbulb moment for her -- and for me, too. I realized that our work at JUF was, in some way, helping people like the Rappaports. That realization has motivated me for so many years to do my job better.

Similarly, the staff at the Center for Jewish Genetics, based in Chicago, is making a difference in people's lives every day. The Center seeks to create a healthier, more informed community by educating healthcare professionals, clergy, and-particularly-individuals of Jewish descent about Jewish genetic disorders and hereditary cancers, and about the importance of genetic screening and counseling. In 1999, just a couple years before my visit with Michelle, the Center was launched as a cooperative effort of JUF and the Ann and Robert H. Lurie Children's Hospital of Chicago, as a result of a grant submitted to the Michael Reese Health Trust.

One in 4 Jews is a carrier for a Jewish genetic disorder. While carriers are generally healthy, their children may be at risk for a serious disease. Most Jewish genetic disorders are autosomal recessive, so an individual will develop the disease only if he or she receives the same mutated gene from both parents. Therefore, both parents have to be carriers for the same condition. If they are, they have a 25 percent chance in each pregnancy of having an affected child. 

We in Chicago are lucky to have a genetic center serving our community. The only other cities in the country with Jewish genetic centers are Atlanta, Miami, New York City, Philadelphia, and Phoenix.

One of the programs offered by our Chicago Center educates and screens people in their childbearing years. The Center recommends that anyone of Jewish descent be screened for Jewish genetic disorders. Even if only one partner is Jewish, it's recommended that the couple be tested, because none of these disorders are exclusive to the Jewish population. In fact, even if only one grandparent has Jewish ancestry, the Center advises screening. It's best to screen before conception, when couples can choose from the widest array of reproductive options.

The Center's program features online education and an at-home saliva test (instead of the in-person seminar and blood test in the past), and currently screens for more than 80 genetic disorders. The screening costs no more than $199 per person. In comparison, screening at a hospital costs anywhere from $500 to $3,000 depending on insurance coverage.

Today, all these years later, Michelle still lights up the room. She's now 20 years old, "a true milestone," Barrie told me recently. She said that with the love and support of her family, friends, and a medical team, her daughter has come a long way and weathered many storms, including being sick for months on end.

But in the past two years, life has been much more stable for Michelle, ever since she started a new trial medication. Michelle has attended Keshet -- a partner with the JUF in serving our community, which serves people with special needs -- since the second grade, and currently is enrolled in the Keshet COE-Worker Transition Program, which empowers students with special needs as they exit the formal education system. She also works several jobs, plays baseball, and spends time with her 16-year-old sister, Jessica.

As they seek the best ways to deal with FD, Michelle and her family are facing life's toughest challenges with courage and grace. They are a light and a lesson for the rest of us.

For more information on the Center for Jewish Genetics, call (312) 357-4718, e-mail jewishgeneticsctr@juf.org, or visit www.jewishgenetics.org.

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