When Jennifer was 26, people started asking her why she was limping. An exercise enthusiast, she brushed aside the question. Then she noticed she couldn’t run laps in her kickboxing class. No problem, she thought — running wasn’t her thing. Next, she started falling behind some older women in Pilates class. By that time, she and her husband were planning on starting a family. Just to be safe, she decided to see a doctor.
Jennifer, a psychiatrist who asked that only her first name be published because she does not want her personal story revealed to patients, first saw a sports physician. He referred her to a podiatrist, who advocated surgery. Unwilling, she went to a physical therapist.
“You definitely have weakness,” she remembers him saying about her muscles. Though he didn’t think it was anything serious (“not genetic or progressive”), he sent her to a neurologist at UCLA. The medical fellow who examined her was a Persian Jew. He knew exactly what was wrong — it was genetic, and it was definitely progressive.
Jennifer has hereditary inclusion body myopathy, a rare, recessive genetic disease that causes late-onset muscle degeneration. The carrier rate in the Persian Jewish community is 1 in 15 — more common than Tay-Sachs is for Ashkenazi Jews. Cases of HIBM have also been documented among non-Jews, including Japanese, Caucasian Americans, Asian Indians and Kurdish Iranians.
Until recently, Jewish genetic diseases have been largely linked with Ashkenazi Jews, amongst whom aggressive prenatal genetic testing has effectively eradicated devastating conditions such as Tay-Sachs.
Now, as the first generation of American-born Jews from Iran and other Middle Eastern countries comes of age, research is turning to diseases in their communities, which have not had the same institutional organizations as the Ashkenazim.
“I had never even heard of [HIBM],” said Jennifer, whose family came to the United States from Iran nearly 50 years ago. “It’s pretty emotionally traumatic to be standing in a room and hear someone tell you that. It shatters your world and everything your life is set out to be.”
Because of its high carrier frequency and appearance in a person’s mid-20s or early 30s, HIBM, of all the genetic diseases suffered by Jews from the Middle East, has gotten the most attention in the United States. Some hope it will be a model for implementing prenatal screening in a community where genetic disease is often misunderstood or carries a heavy stigma.