The start of a years-long medical mystery

At 38 weeks pregnant, Marilyn Medina's doctors induced labor after noting that her baby appeared small on an ultrasound. At the time of birth, the newborn, Amiah, weighed five pounds and seemed to be healthy aside from some minor jaundice.

During the first few months of her life, Amiah continued to be small for her age, but "the doctors never raised concerns," said Medina. "She was eating and breastfeeding just fine."

However, when Amiah was eight months old, she woke up one night with a 104-degree fever and a rash covering her torso. Her parents quickly rushed her to a local hospital before she was transferred to a larger facility by ambulance. Amiah stayed at the hospital for a week, undergoing multiple tests for different health conditions, including Kawasaki disease, cystic fibrosis, and various cancers — all of which were inconclusive.

Additional testing showed that Amiah had pneumonia and extremely high liver enzymes. She was eventually sent home with antibiotics, and doctors referred her to a gastrointestinal specialist.

After that, Amiah continued to suffer from various unexplained ailments, including frequent ear infections, bronchitis, a loss of appetite, and hair loss. As new symptoms appeared, Medina and her husband Brandon brought Amiah to the hospital, pediatrician, and a variety of specialists on an almost weekly basis.

"We were attacking each symptom with a different specialist," Medina said, adding that Amiah had so many blood tests that "her veins were collapsing, she was so small."

Eventually, Medina had to ask her husband to accompany Amiah during her blood draws since it was so difficult for her to watch Amiah in pain. "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."

A multitude of tests before the cause was pinpointed

In August 2019, when Amiah was a year and a half, physicians started testing her for possible genetic mutations. After a pediatric gastroenterologist tested her for several hundred genetic conditions, the results showed that she had three genetic variants, but their significance was "uncertain."

"We were having so many inconclusive tests, it was all very defeating," Medina said. "It was taxing on her and us."

Adams ordered several tests to follow up on previous workups, which showed that Amiah did not have dyskeratosis congenita. He then had Amiah and her parents undergo "whole exome sequencing," a type of genetic test that analyzes all protein-coding parts of a person's DNA to identify changes that could cause rare diseases.

On Dec. 7, 2021, Adams called the Medinas to tell them Amiah's diagnosis: Shwachman-Diamond syndrome (SDS). SDS is a rare condition that only affects roughly one in 70,000 to 100,000 people. It can be caused by mutations in what is called the SBDS gene, which can result in a wide variety of symptoms, including abnormal pancreas development, bone marrow dysfunction, liver abnormalities, and improper bone growth.

"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?'"

"I was upset it took so long to diagnose, but not really angry because it's such a rare condition," Medina added. "I just felt a lot of guilt."

How the family is doing now

Both Medina and her husband are carriers for SDS, which means that there is a one in four chance that each of their children could be born with the condition. Of their four children, Amiah and her youngest sibling Gabby have SDS. Their oldest child, Sebastian, and third child, Sophia, have no symptoms of the disorder.

Although there is no cure for SDS, knowing Amiah's diagnosis has allowed Medina to track her symptoms more effectively and get her treatments more quickly. Amiah is now seven years old and enjoys gymnastics and dancing, but her long-term prognosis is still not clear. Currently, she still experiences frequent ear infections, has impaired hearing, and is at a higher risk of respiratory infections.

The diagnosis has also helped Medina find other parents of children with SDS online, providing them with guidance and support during the process.

"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."

Ultimately, the Medinas say that they simply want their children to live normal lives. "I just want to be able to advocate for [Amiah and Gabby] more so they can enjoy the things everyone enjoys," 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."