At 38 weeks pregnant, Marilyn Medina’s child appeared small on an ultrasound, so doctors induced labor. The newborn, Amiah, weighed in at five pounds, but aside from minor jaundice, she was otherwise healthy.
In her early months, Amiah remained small for her age, but “the doctors never raised concerns,” said Medina, a 34-year-old active-duty Marine. “She was eating and breastfeeding just fine.”
Then, at 8 months old, the child awoke one night with a 104-degree fever and an angry rash all over her torso. Her worried parents, then living in Beaufort, South Carolina, rushed Amiah to the local hospital, where they were told to take her by ambulance to a larger facility in Charleston. Amiah remained there for a week, undergoing multiple tests — for Kawasaki disease, cystic fibrosis, a range of cancers. All were inconclusive, her mother said.
Further testing found the child had pneumonia and extremely high liver enzymes. She was sent home with antibiotics and referred to a gastrointestinal specialist.
That was the start of a years-long medical odyssey. Medina and her husband, Brandon, also an active-duty Marine during that time, shuttled Amiah to the hospital, the pediatrician or to a lab for bloodwork almost weekly as new, disparate symptoms appeared. Amiah suffered frequent ear infections, bronchitis and a loss of appetite. By the time she was 2, her hair began falling out.
“Tufts of hair would come out when you brushed it,” Medina said. For each new symptom, another specialist was consulted.
Amiah was referred to dermatology, immunology, hematology and pulmonology, Medina said.
“Then an ENT got involved when she had a cough that took two months to shake off. … We were attacking each symptom with a different specialist.” Amiah required so many blood tests that “her veins were collapsing, she was so small.”
Medina finally asked her husband to accompany the child whenever a blood draw was ordered because it became so difficult to watch Amiah suffer. “She’s crying, I’m crying,” Medina said. “And I’m apologizing about why we have to pin her down, and why we have to do the bloodwork. Sometimes it would be three adults holding her down.”
After a bone marrow analysis and other tests also came up with no definitive answers, doctors recommended yet another specialist who would ultimately pinpoint the cause of Amiah’s array of symptoms, which by this time also included liver damage.
“I was upset it took so long to diagnose, but not really angry because it’s such a rare condition,” Medina said. “I just felt a lot of guilt.”
The journey to an answer
Neither of the Medinas, nor their older child, Sebastian, now 11, had any serious health problems, which made Amiah’s ongoing symptoms even more perplexing. Still, the family attempted to create a normal life for their daughter, sending her to day care and other activities despite her need for frequent medical attention.
In August 2019, when Amiah was 1½, physicians began testing her for possible genetic mutations that might reveal a disorder. A pediatric gastroenterologist ordered a panel that tests for several hundred genetic conditions. The results showed three genetic variants, or changes in genes, but their significance was deemed “uncertain.”
“We were having so many inconclusive tests, it was all very defeating,” Medina said. “It was taxing on her and us.”
Later that same year, a liver biopsy showed “chronic hepatitis with mild inflammatory activity and early bridging fibrosis,” according to Amiah’s medical notes. There was scarring in the child’s liver that had already formed long bands of scar tissue, which was classified as Stage 2 to 3 — in other words, not mild.
A few months later, an ultrasound showed Amiah’s liver was enlarged.
The suggestion of ongoing inflammation raised the possibility of autoimmune hepatitis, her records show, so she underwent further testing for an immune disorder followed by more genetic tests. These offered a potential clue, her doctors thought: variation in a gene associated with “dyskeratosis congenita,” a condition that can cause a range of problems, including bone marrow failure and liver disease.
In September 2020, in the midst of further testing to determine Amiah’s diagnosis, Brandon and Marilyn Medina received orders from the military to transfer to Jacksonville, North Carolina.
That’s where Amiah, then 3½ years old, was referred to Michael Adams, a pediatric geneticist at the University of North Carolina Medical Center in Chapel Hill. By that time, Marilyn Medina was pregnant with her third child.
Adams ordered a number of tests to follow up on previous workups. It turned out DKC1 was not the culprit. So he had Amiah and her parents undergo “whole exome sequencing’’ — a genetic test that reads all the protein-coding parts of a person’s DNA to identify changes that can cause rare diseases.
When the results came back, Adams said, they were “a surprise to me.”
He phoned the Medinas on Dec. 7, 2021. Marilyn Medina recalls the doctor saying the tests confirmed a diagnosis — but one without a cure.
Amiah tested positive for Shwachman-Diamond syndrome (SDS),a rare condition that afflicts only about 1 in 70,000 to 100,000 people. The disorder, which can be caused by mutations in what’s called the SBDS gene, can have multiple and varied manifestations. Problems can include insufficient absorption of fats and other nutrients due to abnormal development of the pancreas; bone marrow dysfunction leading to low levels of circulating blood cells; as well as liver abnormalities and improper bone growth resulting in short stature and below-average weight in children.
“I was in such disbelief, I cried, of course,” Medina said. “It made me feel like: ‘Was it me, did I do this to her? Am I not meant to have healthy children? Did I eat the wrong thing?’”
What kept Amiah’s diagnostic odyssey going on so long was that the combination of liver disease, low levels of certain white blood cells and the other constellation of symptoms created “an unusual presentation of a rare disease,” Adams said.
Both Medina and her husband, who was honorably discharged from the Marines after 13 years of service and now runs a french-fry bar in Jacksonville, are carriers of the genetic condition, tests found. That means there’s a 1 in 4 chance each of their children would be born with the disorder.
Moving forward
Even though Shwachman-Diamond syndrome remains incurable, Medina said the diagnosis brought her clarity and relief. She could more effectively track her daughter’s symptoms and get her the right treatments faster, she said. Also, joining an online community for parents of kids with SDS helped tremendously, she added; the participants share medical advice and offer guidance and support to each other.
Medina’s third child, Sophia, now 5, has so far exhibited no symptoms of the disorder. But their fourth, Gabby, tested positive for SDS at 8 months old.
Amiah, now a 7-year-old second-grader, loves gymnastics and dancing, but her prognosis remains murky. While she is currently not taking medications, she still gets frequent ear infections, her hearing is impaired, and she remains susceptible to respiratory infections.
Adams said she is at risk for certain complications, especially leukemia, but the diagnosis means clinicians now have a framework for interpreting new symptoms as they arise.
“The diagnosis connects families to support networks, Adams said. “When new therapies or gene treatments emerge — and they are coming — families in those networks will be the first to know. That means children like Amiah could benefit earlier, while they’re still young,” he said.
The Medinas simply want a normal life for their kids.
“I just want to be able to advocate for [the girls] more so they can enjoy the things everyone enjoys,” Marilyn Medina said. “And I want to prevent other people from enduring this kind of delay to get a diagnosis, and all of the bloodwork and the torture for parents and kids to go through.”
Rachel Zimmerman is a journalist and writer based in Cambridge, Massachusetts. Her book, “Us, After: A Memoir of Love and Suicide,” was published in 2024.
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