Jewish American Heritage Month

Posted By richards on June 29, 2017

With her infectious energy, you would never know Emily Kramer-Golinkoff is battling Cystic fibrosis.

Kramer-Golinkoff will speak this fall at JUF's Norton & Elaine Sarnoff Center for Jewish Genetics' "Jean Therapy" event in Chicago. The event raises awareness about genetic disorders that disproportionately affect Jewish and interfaith families.

Cystic fibrosis, or CF, causes life-threatening infections, lung damage, and, overtime, respiratory failure, according to the Cystic Fibrosis Foundation. For the 70,000 people like Kramer-Golinkoff battling CF worldwide, mucus builds up in their lungs, pancreas, and other organs, clogging their airways and trapping dangerous bacteria, as well as preventing the release of digestive enzymes that enable their bodies to break down food and absorb essential nutrients.

"There are no days off and no breaks and no vacations," Kramer-Golinkoff said in regards to her treatment that takes three to four hours to do each day-when she's healthy. Her treatment consists of various inhaled breathing therapies of antibiotics, bronchodilators, and mucociliary clearance, and strapping on a vest that inflates and forcefully shakes her chest to dislodge mucus that builds up in her lungs and airways. On top of that, she takes 30 pills each day and pokes herself with four to five insulin injections to treat her CF-related diabetes, which, according to Kramer-Golinkoff, affects nearly half of the CF population over the age of 18.

At just 6 weeks old, Kramer-Golinkoff was diagnosed with CF. Today, at age 32, she has about 35 percent lung function and advanced-stage CF. The next stage is end-stage. At that point, her only treatment option is a lung transplant. "Our desperation and urgency is to try and save Emily and others like her," said Liza Kramer, Kramer-Golinkoff's mother.

There are over 1,700 known mutations of CF, but Kramer-Golinkoff has what's called a nonsense mutation, a rare and untreatable mutation of CF. Her mutation, specifically, is known as the Ashkenazi (Jewish) mutation, which affects only some 2 percent of the CF community.

While recent medical advances have helped people with CF live past their average life expectancy of 41, there were no organizations focused on finding treatments and cures for people with Kramer-Golinkoff's nonsense mutations. So back in 2011, she and her family and friends launched Emily's Entourage. The non-profit organization has raised over $2.5 million to fast-track research and drug development for nonsense mutations of CF with a focus on the Ashkenazi mutation. And, this summer, the organization is giving out approximately $500,000 in research grants to a group of researchers all around the world.

Finding a breakthrough for CF won't only help Kramer-Golinkoff and people like her, according to Kramer, but could potentially help 12 percent of people with genetic diseases caused by nonsense mutations, which adds up to about 30 million people.

Kramer-Golinkoff remains optimistic. "We are laser-focused on accelerating breakthroughs that can reach patients in the next five years," she said. "Our sincere hope is that those breakthroughs will allow us to sustain people, so that they can live longer and better than ever before."

But she wants to get the word out to the Jewish community. "It's imperative for the Jewish community to know that there are these game-changing breakthroughs that are happening in the treatment of Cystic Fibrosis, but our Ashkenazi mutation of CF is being left behind. It's really up to us to light the fire to change that."

With one in 25 to 27 Ashkenazi Jews being carriers of the Ashkenazi mutation of CF and CF being the most common fatal Jewish genetic disease, Kramer-Golinkoff hopes that Jewish people comes to realize that "this is our shared disease and the time to act is now."

The Norton & Elaine Sarnoff Center for Jewish Genetics is working with Emily and her Entourage to spread the word about Jewish genetic health at their Jean Therapy event, taking place on Nov. 1 at the Chicago Athletic Association in downtown Chicago. The Center is a community resource for education, access to expertise, and a comprehensive carrier screening program.

For more information about the Jean Therapy event on Nov. 1, contact Sarah Goldberg at sarahgoldberg@juf.org or (312) 357-4718. For more information about Emily's Entourage, visit EmilysEntourage.org.

The Norton & Elaine Sarnoff Center for Jewish Genetics is a supporting foundation of the Jewish United Fund of Metropolitan Chicago, and is supported in part by the Michael Reese Health Trust.

Carly Gerber is a freelance writer living in Chicago.

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Jean Therapy: Getting the word out about a disease all too common in the Jewish community - Jewish United Fund

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