Eli Vasquez was a healthy baby when he was born in 2018, but small, seemingly unrelated problems kept popping up in the months that followed.
He was always congested. His teeth were growing out of order. He had a small bump on his back. And his face was developing in a way that he stopped resembling his family.
“I was in complete denial that anything could possibly be wrong with our baby,” Kelsey Vasquez, his mom, told TODAY.
“There was nothing that really interfered with his day-to-day life or his personality or anything.”
It was the beginning of a medical journey that would ultimately take the family from their home in La Habra, California, to medical specialists in Minneapolis, Minnesota, where Eli’s big sister, all of 4 years old at the time, played a key role in saving his life.
After nine months of accumulating symptoms, Eli underwent genetic tests to see whether there was something more serious behind the small problems.
The diagnosis: Hurler syndrome, a genetic disorder in which the body doesn’t produce an enzyme needed to digest sugar.
“These large sugar molecules start accumulating in the body and they accumulate everywhere — from your head to toe,” said Dr. Ashish Gupta, a pediatric blood and marrow transplant physician at the University of Minnesota Masonic Children's Hospital who treated Eli.
That can ultimately damage the brain, liver, spleen, lungs and heart. Bones are affected as well, leading kids with Hurler syndrome to develop broad faces with a flat nasal bridge and bulging frontal bones. Without treatment, the young patients die within their first decade of life — mostly because the heart and lungs give up, Gupta said: “It’s a tough disease.”
A child must inherit two defective genetic codes — one from each of his parents — to have Hurler syndrome. Only about 1 in 100,000 babies are born with it.
Both of Eli’s parents happen to carry the gene mutation, but since they both still have one working code, they’re able to produce a “decent amount” of the enzyme so they’re not affected, Gupta added.
Eli’s mom, who had never heard of Hurler syndrome before the baby’s diagnosis, became distraught after reading about the condition.
“It's literally like your heart falls out of your body,” Vasquez, 26, recalled. “Multiple nights after finding out, I would just sit next to his crib and just cry and stare at him while he slept.”
Bone marrow donor has emotional union with young recipientApril 8, 201909:22
'Let's do it'
Hurler syndrome has no cure, but treatment that was first tried in the 1980s can prolong a patient’s life. Gupta knows of a person in her 30s living with the disease.
To prevent further damage, baby Eli would need a blood and bone marrow transplant to replace the faulty blood-forming stem cells in his body with healthy ones that produce the enzyme.
The donor would have to be a perfect match and not carry the defective genetic code. When his 4-year-old sister Olivia was tested, she met both criteria — a 1 in 8 chance, Gupta said. Vasquez called it “two huge miracles.” In a quirk of nature, the siblings had the same parents, yet one inherited two defective genetic codes and the other none of them.
Children who are over 6 months of age can donate bone marrow, Gupta said.
Olivia had been kept in the loop about her brother’s illness so when it became clear she’d be the best bone marrow donor, her parents asked for her permission.
“She said, ‘Yeah, let's do it,’” Vasquez recalled. “What she understood the situation by was that her brother had bad blood, hers was good and she was going to give it to him to make him better.”
For the procedure, the family chose the University of Minnesota Masonic Children's Hospital, which was the first to perform a blood and marrow transplant for a patient with an inherited metabolic disorder in the U.S.
'The human body is amazing'
For nine days before the transplant, Eli received chemotherapy stronger than what’s given to cancer patients to completely kill all the stem cells in his bone marrow and make room for his sister’s healthy cells.
On the morning of November 8, 2019, doctors removed bone marrow from Olivia’s hip bone. Only a small amount was needed since Eli was so much smaller than her, Gupta said.
The cells were prepared for transplant in a special lab and collected in a bag that was hooked up to Eli intravenously that afternoon. Gravity pulled the marrow through the line and directly into his body, which took about 20 minutes. There’s no surgery on the patient’s end.
The stem cells are programmed to reach to the empty bone minerals, establish shop, and start renewing themselves and making new cells — “the human body is amazing,” Gupta said.
Olivia was ready to go home that evening, but Eli was in-patient at the hospital for a total of about 21 days. In all, the siblings and their mom stayed in Minneapolis for more than four months so Eli could be monitored during his recovery.
The family returned to the hospital last month for his one-year evaluation.
“Today, he is amazing,” his mom said. “All of these tests came back so good — everything looks either the same or better, which is great news. Nothing had gone backwards.”
Eli doesn't have any developmental issues at this point and is in “a very good place” in terms of his intellectual development, Gupta said,
“He's doing really phenomenal,” he noted. “(But) this is an ongoing battle, this is a marathon and the most important thing is that we will continue to keep evaluating him every year and see what he needs.”
As for Olivia, now 5, she believes she and her brother are the same person after the transplant and loves it.
“She’s so proud that he is made up with her cells and that he's so healthy,” Vasquez said. “I think his outcome wouldn’t have been the way it is if it wasn't for her.”