This is the year that Natalie Anaya learned her toddler has a rare genetic disorder, one that has killed almost every other child in Puerto Rico diagnosed with it. And that was before Hurricane Maria pounded their home.
And yet she is ending 2017 with much to be thankful for.
Because, amid the heartbreak, Anaya discovered that her daughter could get a life-sustaining bone marrow transplant at the University of Minnesota. Then, against long odds, her daughter found the perfect bone marrow donor.
And then, when her daughter’s fragile health was threatened by a lack of clean water and power in the hurricane’s wake, an unlikely rescue flight brought her back to Minnesota for care at the U.
“I won’t look back on this year ... as a traumatic experience,” Anaya said in an interview this week. “I will look back on it as the year when we dealt with it. This is when we got help. That said, it has been a tough year.”
Anaya’s thanksgiving story is unique globally, considering that her daughter suffers from Hurler syndrome, a genetic enzyme deficiency that occurs in one in 100,000 births. But the tale is familiar at the U, which performs one-fourth of the world’s transplants to treat the condition.
The transplants are risky — with a mortality rate of 15 percent or higher — but they have changed and prolonged lives, said Dr. Weston Miller, a Hurler specialist at the U who treated Anaya’s daughter. “I’ve got some patients who are now in their 20s, who are working independently,” Miller said.
Anaya had noticed worrisome characteristics in her daughter, Juliette Marie, since her birth in May 2015: a larger head, a protruding stomach, bowed legs, and a tendency to stick out her tongue.
But the smiling, bright-eyed baby was reaching her developmental milestones, and doctors never mentioned anything serious until a stomach illness struck the girl during a beach weekend earlier this year. Worried, Anaya took her daughter to a small clinic in the oceanside town of Isabela.
A doctor there recommended that Juliette be screened for genetic abnormalities, and that led to the discovery that she had Hurler, which degrades the physical and mental capabilities of children and usually causes death by age 10. The disease results from the body’s inability to produce an enzyme that supports functions throughout the body — the liver, the heart, the lungs, the bones and the brain.
“It’s like kid Alzheimer’s,” Anaya said, “but with a physical component that makes it even worse.”
Anaya couldn’t even type the term Hurler for a while, because the online images showed disfigured, dying children. Then she learned of the possibility of a bone-marrow transplant in Minnesota, and found a Facebook page image of a transplant recipient dancing around in a fairy costume on her 8th birthday.
“I started crying happy tears and called my mom,” she said.
In Minnesota, Miller had concerns. Transplants infuse the recipient with a donor’s cells, which spread throughout the body and coax production of the missing enzyme. But Juliette’s disease had been discovered a bit late. Many children now receive transplants by 18 months, thanks to earlier screening. Juliette’s transplant would come near age 2, which is typically when absence of the enzyme in the brain starts to cause cognitive problems.
On the other hand, her 8-year-old brother turned out to be an ideal bone marrow donor. Relatives often make the best donors, but the odds suggested that he might carry the same genetic trait that caused Juliette’s disease. He didn’t. It was a one-in-12 stroke of luck.
Juliette received the bone marrow transplant on May 15, and remained at the hospital for three months to deal with complications. The family returned to San Juan in late August, where the plan was for Juliette to receive hospital infusions of synthetic enzyme to supplement what her body was now producing.
Anaya was optimistic; beyond the transplant, Juliette received ear tubes after discovering that her condition had left her partly deaf. Now instead of screaming when she needed something, she would simply say “mama.”
Her personality was emerging too, especially a sassy finger-wag when her parents or brother were making her mad.
Then came the hurricane, which shook and flooded the family’s 13th-floor apartment. Soon they had no clean water. Moldy conditions threatened Juliette, at great risk from any infections. Power disruptions also threatened to interrupt her enzyme infusions.
The family needed to get off the island, but flight after flight was canceled. In desperation, Anaya called Sanofi Genzyme, the maker of the synthetic enzyme, hoping the company could pressure an airline to open up a flight. Instead, the company offered a ride on a private jet to Florida, and covered travel costs to Minnesota.
Back at the U, Juliette has received enzyme infusions as well as speech and physical therapy because the syndrome has left her with tightened joints and a curved spine. She is strong enough that the family will soon leave for Texas to stay with relatives.
Anaya and her husband mourn the loss of the ideal childhood for their daughter, who will deal with some level of disability. But they remain grateful.
“I just want her to be happy,” she said. “I do want her to experience love — love someone and be loved.”