A rare, mysterious genetic disease

Usually my Cousin Michael sends me interesting family highlights drawn from his superb memory and present extensive research. But this time, the needed research can’t be the kind he always does as he tends to the growth of our always-spreading family tree’s green branches: It’s about a rare genetic disease, and who’s the one who has first brought it to Michael’s — and hence to my — attention? It’s the mother of someone who has it: Michael’s great-nephew Jake, just 2 years old.

Michael received the word recently from his Florida cousin Orah, member of a family branch different from the one we two share. She reported with gravity and sadness that “After countless months of genetic testing and going from one specialist to another, we finally got an answer: Jakey has USP7. He’s only the 47th person in the world to be diagnosed with it.” Although every parent wants to know what’s wrong with an obviously sick child, there is no known way yet to prevent or cure it. This is not the answer that any parent wants to get!

Michael reports that, as far as he’s gleaned from his own not-too-successful research, very little is known at this time about USP7, but it has definitely not been defined as a primarily Jewish disease. “I don’t even think it’s inherited in Jakey’s case,” my cousin writes. Neither of the young victim’s two older sisters, ages 8 and 5, is affected. From the little now known about it, USP7 seems to be a spontaneous mutation, and its signs are quite variable but quite obvious when appearing together: failure to thrive and grow, speech problems, seizures, vision problems, intellectual impairment and more.

Of course I headed straight for the all-knowing internet myself, but that usually reliable source doesn’t yet yield much additional information about this rare disease. All I found were other USPs with other numbers, all with mentions of proteins and sugars, but no details. To me, even as one with a very distant family connection, this is all very sad — an especially terrible sadness for Jakey’s immediate family, with all its accompanying and inevitable fears for his future and theirs. But beyond sadness is the pressing need for much fuller understanding of what yet another “mystery disease” is all about, and finding how to cure it, and prevent it.

Rest assured: USP7 is by no way diagnosed as a “Jewish disease,” as we have come to know some others. I recently heard from someone else who has a child with Gaucher’s, defined as “a hereditary disease in which the metabolism and storage of fats are abnormal; it results in bone fragility, neurological disturbances, anemia, and enlargement of the liver and spleen.” Jewish couples marrying today are almost always specifically asked to be tested for it, since it seems to occur most often within Ashkenazi Jewish marriages.

Current work on unraveling this new mystery disease is being done by researcher Ryan Potts at St. Jude’s Hospital; he hopes that gene mutation therapy will be a cure sometime in the foreseeable future. We can only hope — given this something brand-new for Jewish couples wanting children of their own to worry about — that there will soon also be prenatal (even better than that; premarital) testing for USP7 as routine for at least such couples with shared Ashkenazi backgrounds.

Says Cousin Michael: “I want Jakey to have the best future he can possibly have, and for all children with this syndrome the ability to live normal, healthy lives.” I echo his words. What member of our family, and yours, cannot join us in asking for that?

Harriet Gross can be reached at

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