Throughout his life, David Schleifer, 38, has suffered from an array of seemingly unrelated medical conditions: digestive issues, eye problems, heart defects, joint pain, neurodevelopmental delays. “If anybody could have a problem, it would be my son,” David’s mother, the philanthropist Harriet Schleifer, told eJewishPhilanthropy last week. 

Until recently, all of those symptoms were treated as distinct, inexplicable problems. “I’ve had more than 30 years of going to doctors and specialists and therapists, and each specialist looked at him through the lens of that one specialty. Nobody could put his whole thing together,” she said.

And then, about five years ago, someone recommended screening David’s DNA. “The results showed a very rare genetic mutation that had been discovered only about two years before we sequenced him,” recalled Schleifer, who currently serves as chair of the Conference of Presidents of Major American Jewish Organization and has in the past served in top roles in the American Jewish Committee and other Jewish communal groups.

The genetic mutation is known as Transketolase (TKT) deficiency, and it appears to be most common among Ashkenazi Jews. 

So far, only nine cases of TKT deficiency have been diagnosed, with a few more possible cases, but Schleifer and her husband, Leonard, the co-founder of the biotech firm Regeneron, are looking to change that. In January, they funded a program at Yale University focused on the disorder and are working to raise awareness of it in order to find other people who may unknowingly have the mutation. “We need to identify who else in the world — and there have to be more than nine individuals — has this but don’t know that they have this because they haven’t gone through genetic sequencing,” she said. 

This is particularly true for adults who have been living with the disorder for their entire lives without knowing that it was due to one specific cause. “It’s more likely that [children] will have their DNA sequenced just because of technology today,” she said.

The program, led by Drs. Andrew Wang and Anna Szekely, only recently received the final approvals that it needed to open publicly and put up a website with information about the disorder.

Through the Yale Transketolase Deficiency Program, the Schleifers hope to better understand the disorder and share that information with doctors and researchers around the world and also develop new treatments for it. “This will be open source,” she said. “This can be open to collaborative work with a lot of other universities and scientists. It will not be held close to the vest by Yale. It will work with other organizations because it’s meant to be a public service,” she said. 

Schleifer added that through their funding, people who are diagnosed with the disorder will have their clinical care provided by Yale. 

Schleifer explained that she and her husband funded this center at Yale because her son lives in a nearby community for people with disabilities and his doctors are affiliated with the university. 

“My hope is that we can get a cure for it,” Schleifer said, noting the recent advancements in gene therapies, including by her husband’s company, which have cured babies of hereditary conditions. She added that this would likely not be an option for adults who have lived with TKT Deficiency, as it would have already had a lasting effect on their bodies.

“So in the future, there is hope that we can get to relieve people of growing up with this and their family. I can only tell you, the impact on the family is so great because you spend your whole life focused on the most vulnerable person in the family. … And if you could relieve future people of this, it would be a mitzvah,” she said. 

Since the disorder was only recently discovered, doctors do not yet know basic things, like how it affects longevity, she noted. 

People suffering from the disorder who don’t know it may not be getting the proper kind of care that they need as their doctors don’t realize the true metabolic nature of their symptoms, Schleifer added. 

“We know that there are implications for whether we can introduce [biologic medications] to tamp down the inflammation. There are also digestive issues associated with this. We could try to give them enzymes before they eat so their bodies can better metabolize food,” she said. Without that, people with TKT do not seem to properly absorb nutrients from food and, as a result, do not develop normally. 

Through her extensive connections in the Jewish communal world, Harriet Schleifer also hopes to raise more awareness about the mutation, to have it included in Jewish genetic screenings and to ensure that medical-focused Jewish organizations are aware of it so that they can direct people to specialists.

“We need Jewish communal organizations saying, ‘Hey, if you know somebody who has these symptoms, reach out to these two Yale researchers [Wang and Szekely] or to me,” Schleifer said. “Yale will help with the sequencing. Yale will help with the care of your person. And then, the last thing that we need to do is get it on the prenatal and perinatal screening panels for Jews.” 

The mutation is recessive, meaning both parents need to carry the gene in order to pass it on to a child. Once they discovered that, Schleifer said that she instructed her older son, Adam, to get tested before he and his wife had a baby to see if they also are carriers. “So he got tested and found out he’s also a carrier. Then we had to test his wife, and she is not a carrier. So they can’t have children like his brother, but my son might be able to pass [the gene] down to his children,” she said. 

Schleifer said that she has already started speaking with at least two Jewish genetic screening companies and she hopes to speak with more and also to raise the matter with experts in Israel, where roughly a third of the population is Ashkenazi and thus at higher risk of carrying the mutation.

“I’m a communal leader, I’ve always been a Jewish communal leader, so for me, this is something that I’m doing for my extended family because we’re all related,” she said. 

Schleifer said that she feels her involvement in this cause was, in a sense, preordained. “I have my background in special needs, I practiced law with the special needs population,” she said, referring to her legal career advocating for students with disabilities. “It seems like there was a plan… that there was a reason why I had my son and [why I do] what I do… This is like a life of dual dedication to special needs and to the well-being of all Jews in every way — and it’s what I have to do.”