Dorothy never forgot her baby sister. Even up into her 90s, she spoke wistfully of Baby Katherine, the little girl taken from her family so young. Dorothy was Gordon’s grandmother, and Baby Katherine would have been his great aunt. It was a sad story, but stories of children dying young a hundred years ago were not as unusual. They could—and did—die for many reasons. Dorothy told me the story years ago and I filed it away. Then, shortly after Ethan’s diagnosis, it hit me. Had Baby Katherine had Tay-Sachs?
We asked Gordon’s aunts and uncles for more information but they didn’t know a lot. One aunt bravely asked Dorothy what else she remembered about Katherine, but the best clue Dorothy could give us was in her genes. She was tested for Tay-Sachs using the “spit test” from a controversial company, 23andme.com, which has since been shut down by the FDA. The test could only detect six of the over one hundred mutations that cause Tay-Sachs, but in this case it hit the jackpot. Tests on three generations of Gordon’s family revealed that Dorothy was indeed a carrier. She had passed her mutation unwittingly to her son, then to his son, and then to our son, Ethan.
The test told us that Baby Katherine likely had at least one mutation, like her sister. But for her to have gotten Tay-Sachs, both of her parents would have had to be carriers. Whereas Ethan’s chances of having been born with Tay-Sachs were 1 in 620,000, Katherine’s chances would have been 1 in 250. We wondered how we could know for sure. We could not test Katherine’s parents because they died long ago. If any of their other children were alive—or if they had had children—we could test them for a second mutation. But we were out of luck on all three fronts. Dorothy was the only one of her five brothers and sisters to have children. Our only option was to test the descendants of Dorothy and Katherine’s aunts and uncles, whoever they were and wherever they might be.
The good news was that we had genealogists in the family. They could help us find Katherine’s distant family members and determine whether they carried a second mutation. If they did, we would know with nearly 100% certainty that Baby Katherine had Tay-Sachs. And so we began our search, and so it continues. Better than merely knowing ourselves, our search would lead us to people we could warn about Tay-Sachs. Being related to us, their risk of being a carrier is as high as 1 in 16. It’s something they would want to know about up front.
And then it occurred to us, if we can do this for our own family, we could do it for other families too. Distant relatives who don’t fall within the normal definition of “high risk”—and who consequently don’t get tested—should not have to find out the hard way, the way we did, by losing our child. And so TSAPO was formed. We facilitate the process of finding distant relatives who are at high risk by virtue of their relationship to a known carrier. If we can help even one family avoid the heartbreak of having a child diagnosed with a terminal illness, then our nonprofit, our mission, will be a success!
This spring Dorothy passed away at the age of 99, but not before she took the test that unlocked such a crucial clue. We hope that her last gift to us and to her great-grandson Ethan will make a big difference in many lives. And so we thank her, and Baby Katherine, and Baby Ethan, for helping us learn how to help others and maybe someday defeat Tay-Sachs once and for all.