They thought he might just need glasses.
Lorelei Sandoval and her husband had noticed that their four-month-old son, Isaac, had a small wiggle in his eye, so they brought him in to the pediatrician. It wasn’t until the doctor wouldn’t stop asking them questions — including if they were of Jewish descent — that Sandoval started getting nervous.
“He wouldn’t tell me what it was, but he was asking all these questions,” Sandoval said. “He immediately referred us to a specialist, saying how nervous he was and how he hadn’t seen it since college — in a textbook.”
When Isaac was seven months old, he was officially diagnosed with Tay-Sachs, a metabolic disease in which the body does not produce the right levels of an enzyme needed to clear fatty waste from the brain; it slowly destroys brain functions. Although Tay-Sachs is most prevalent in Ashkenazi Jews (and sometimes referred to as a Jewish disease), it affects non-Jews as well. Currently, there is no cure or treatment.
In most cases like Isaac’s, life expectancy is as little as two to four years. Every case is terminal.
But today, Isaac is five-and-a-half years old.
In 2011, when he was about 10 months old, Isaac underwent what is known as a cord blood transplant at Duke University in Durham, North Carolina. Duke and the University of Minnesota are the two of the only current transplant centers in the U.S. that will consider the procedure, or the similar bone marrow transplant, for children with Tay-Sachs. And for good reason. It’s a difficult and risky process, and its effectiveness for Tay-Sachs is still uncertain.
Trials for Tay-Sachs transplants began about 10 years ago, but few children have undergone the procedure, and even fewer made it through the process alive.
“We found out what a hard choice it was,” Sandoval told the Forward. “It’s basically a 50 percent chance of getting out of the hospital with your child alive, or 100 percent that it [the disease] will take him in two to four years.”
Sandoval, who is a nurse at a hospital in San Diego, said she made her decision after long talks with others in the small Tay-Sachs community whose children had undergone the procedure. The eight families she met who had done the transplant were very honest about the dangers, and they had mixed feelings on whether they would make the same decision again, she said.
Hunter Combs, now well into his teenage years, is the oldest child living with Tay-Sachs today, according to Ken Bihn, founder of the Cure Tay-Sachs Foundation. Hunter received a cord blood transplant when he was 14 months old.
Although the Sandovals desperately wanted to save their son, they didn’t want to attempt a transplant if they didn’t think Isaac would have some quality of life. It wasn’t until Sandoval called one family and heard their 10-year-old child, who had gotten the treatment for Tay-Sachs, laughing with his grandmother in the background convinced her that Isaac needed the transplant.
“We had some hope,” Sandoval said. “I knew we could do that well with Isaac.”
In a sense, the decision to transplant is a decision to have hope.
“People who do transplants have hope,” said Patty Beaudry, a nurse in the Pediatric Blood and Marrow Transplantation Center at the University of Minnesota. “If you don’t, for whatever reason, then you don’t have any hope.”
Not every child with Tay-Sachs is a candidate for transplant. Before being able to have the procedure, patients undergo tests that look for certain criteria and ensure the disease has not progressed too far for the transplant to have some effect. Patients are also tested for essentially every known virus to avoid making them vulnerable to infection while they undergo the process. Since the first step is chemotherapy to kill off their own bone marrow — before transplanting in new marrow or cord blood — their immune systems are deeply compromised or nonexistent, Beaudry said. For both procedures, the transplanted marrow or cord blood will begin making new bone marrow — and hopefully the fat-dissolving enzyme Tay-Sachs patients need.
Beaudry said she knows transplants bring hope because she’s seen it.
When Beaudry first saw Krystie Karl-Steiger at the clinic with her fathers, Bruce Steiger and Rick Karl, she knew she had to hold her. Beaudry works with patients before and after their transplants, and she assured Krystie’s parents that she would be the one to care for her after her procedure.
“The transplant process itself is completely brutal,” Bruce Steiger told the Forward. “Krystie threw up blood for 60 days straight.”
In total, Krystie spent 90 days in the hospital for her transplant in 2007. She lost the ability to eat on her own and suffered from a variety of complications due to the chemotherapy. More complications followed the transplant, forcing Krystie’s parents to live for 18 months in the Ronald McDonald House, a charity that provides parents with a place to stay near their children during long hospital stays.
Steiger said his daughter was the only child with Tay-Sachs in the University of Minnesota Pediatric Blood and Marrow Transplantation Center during their stay. He tried to hold out hope, focusing on the couple he knew whose child with Tay-Sachs had survived the procedure. The three other families he knew had lost their children in the hospital.
“It’s like a war zone,” Steiger said of the hospital’s transplant wing. “Every week, some kid dies. Even within the Ronald McDonald House, you’re constantly comforting families.”
Initially, Steiger and Karl had said no to the idea of a transplant. After discovering Krystie was a candidate, they were given a long procedure waiver to sign. It listed all the possible risks but only one line said the transplant might help with Tay-Sachs, Steiger said. However, that year they attended the annual National Tay-Sachs and Allied Diseases Association conference, and after, witnessing the unrelenting nature of the disease, knew they had to do something.
Steiger once told Beaudry that they had used science to bring Krystie into the world, and when she was diagnosed, they felt they owed it to her to use science to try and save her.
It had taken Steiger and Karl six tries, tens of thousands of dollars, multiple lawyers, egg donors and surrogates to have Krystie. At one point during the pregnancy, the surrogate mother cut off contact, essentially kidnapping their daughter, Steiger said. It wasn’t until they got a phone call one morning that they knew their daughter was being born in a hospital in Orange County, California.
According to all the medical tests when she was born, Krystie was a perfectly healthy child.
Steiger and Karl began to worry only after they noticed she wasn’t developing as quickly as other kids in her playgroup. After Krystie had an MRI when she was 10 months old, they were told their daughter was going to die.
Doctors said Krystie had Leigh disease. They told her parents that she probably had three years to live. However, the diagnosis didn’t seem right to Steiger, so he was relieved when an ophthalmologist told him that she might have something else called Tay-Sachs.
“I didn’t know what it was, but I thought now we can figure it out and fix it,” Steiger said.
Unfortunately, as the procedure exists today, bone marrow and cord blood transplants are not a fix for Tay-Sachs. Children with successful transplants start producing the needed enzyme, but it isn’t clear whether significant enough amounts of the enzyme reach the brain to treat the disease.
After her son had a transplant procedure and developed seizures and other complications, Lorelei Sandoval questioned whether she and her husband had made the right choice for Isaac.
“We did take home almost a vegetable,” she said. “When we first took him home, he wasn’t in a good place.”
However, after getting his seizures under control when Isaac was about three, he returned to how he was before the procedure, Sandoval said. After her transplant, Krystie had lost most her ability to function, so Steiger and Karl also had to do everything for her, but Steiger said he thinks children with transplants do have a better quality of life.
Beaudry said that she doesn’t believe any Tay-Sachs patients can regain milestones they missed, meaning they will never hit grade-appropriate development goals, but that transplants seem to slow down the progress of the disease and can give families more time with their children.
Other families, who declined to be interviewed, had difficult experiences with the transplant process.
“It’s a very personal decision,” Sue Kahn, director of the National Tay-Sachs and Allied Diseases Association, told the Forward.
Kahn said she does not believe most clinicians would recommend the procedure. Her organization tries to provide the facts and resources to families investigating options like a transplant.
The Sandovals, Steiger and Karl are not of Jewish descent, which is something Lorelei Sandoval points to as evidence of the need in the wider community for the screening tests that have been pervasive in the Jewish community.
Although Duke and the University of Minnesota have approved transplants for Tay-Sachs patients, it isn’t clear whether they will continue to do so.
“It was a hard process,” Sandoval said. “I think even Duke doesn’t necessarily plan on doing transplants again for Tay-Sachs unless something changes. I don’t think they saw Isaac as a success story, more of a ‘just made it by’ story.”
Neither Duke nor the University of Minnesota responded to interview requests.
Kahn said there has been hopeful progress on other treatments for Tay-Sachs, such as gene therapy, which her foundation has helped fund. But gene therapies, which Sandoval had been told were a year away from clinical trials when Isaac was in the hospital in 2011, still appear far off five years later.
Steiger said he and Karl eventually got into a routine as Krystie turned six years old, then seven and eight. It seemed as though the disease had been held at bay, he said.
Then, on a sunny day in 2015, when they were on the way to the zoo, Krystie died in her car seat at nine-and-a-half years old.
It was unexpected, Steiger said. She was having a perfectly happy day, and she just took her last breath, he said.
Beaudry, who had become close with Krystie and her parents and helped to care for her about five days a week, doesn’t think Krystie suffered.
“I treasured every minute that I had with her,” Beaudry said. “I find myself thinking I feel so empty without her. It’s a very powerful thing being able to be a part of someone’s life like that.”
As gay men with a terminally ill daughter, Steiger and Karl never thought Krystie would be at their wedding. But on their 20th anniversary together, following the 2013 legalization of gay marriage in Minnesota, Steiger and Karl decided to have a small wedding at the courthouse. Krystie, who had been dressed up by Beaudry and other nurses, was the flower girl.
Even though he got to have his daughter for more than nine years, Steiger said he can’t recommend transplants because they can shorten a child’s life as easily as lengthen it.
But Beaudry still sees value in the option.
“Krystie never learned to walk or talk, but they had a daughter and they had a family,” she said. “Isn’t that valuable?”
Though Steiger and Karl, both now in their 50s, don’t plan on having another child, Lorelei Sandoval and her husband do — and there’s a chance it could also have Tay-Sachs.
Transplants may offer hope for patients, but not enough.
“Somebody still needs to find a cure out there,” Steiger said.