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 does for our always-spreading family tree’s branches: It’s about a rare genetic disease, and the one who has it is Michael’s great-nephew Jake, just two years old.
Michael only received the word last week from his cousin Orah in Florida, who reported 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. There is no known way to prevent it…”
Michael writes, “This is not a Jewish disease. I don’t even think it’s inherited in Jakey’s case — his two older sisters, 8 and 5, are unaffected. It seems to be a spontaneous mutation, and the signs are quite variable: Failure to thrive and grow — speech problems — seizures — vision problems — intellectual impairment, and more.”
Of course, I headed right for the internet, but all I could find were other USPs with other numbers, and mentions of proteins and sugars. To me, this is all very sad. A terrible sadness for 2-year-old Jakey’s family, with the inevitable fears for his future and theirs. But beyond sadness is the need for a better understanding of what yet another “mystery disease” is all about, and finding how to cure and prevent it.
Current work on unraveling this mystery is being done by researcher Ryan Potts at St. Jude’s Hospital, who hopes that gene mutation therapy will be a cure in the foreseeable future. Orah is fundraising for her cause, just as all of us here see so many others doing for a variety of their own. She organized a one-mile walk, which took place April 7, what has now been proclaimed USP7 Awareness Day. She wrote to Michael: “I am raising money to go toward the research that is now being done to find a cure for this disease. 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.”
The bottom line: $50,000 is the amount needed to support current research. “Thanks to the extreme generosity of so many, we have raised almost $5,000,” she said in advance of the walk. I don’t have the results of that effort yet, but Orah’s hope was to push the total up to $10,000, and beyond. Of course, Cousin Michael is contributing to it, and asking others to do the same. And of course, as mine is a family of story-tellers, he has a story to go with his decision:
“I haven’t asked anyone for money since I went from door to door with my father in June of 1967,” he said, “collecting coins in a can for the State of Israel at the start of the Six-Day War. Now, my niece Orah and her son Jakey are fighting a war of their own. I’d like to think that those coins my dad and I collected back when I was eight years old played a small part in the return of Jerusalem. Now, it’s almost 52 years later, and Jakey was named after my dad. I know that my ‘coins’ of today will play a part in restoring Jakey to health.” Michael has started his own personal campaign for this family cause, and of course I’ll contribute: Pennsylvania and Texas joining the Florida effort.
Please understand, I haven’t written any of this as a monetary solicitation, only to let you know there’s something new on the genetic-disease front that is afflicting at least one of our own. The more we learn, the more we know how much more we need to learn. This seems to be the ultimate lesson, not just in medicine, but in all phases of life.