After years of searching for answers, Miguel finally had his Pitt-Hopkins Syndrome diagnosis confirmed – and FDNA’s AI technology was the key to this discovery.
When Evelyn discovered she was pregnant with Miguel in 2016, it felt like the beginning of a beautiful chapter. As a dedicated biologist and Ph.D. candidate, her life revolved around research, precision, and the pursuit of knowledge. The pregnancy unfolded smoothly, a period of calm before the storm. But in September of that year, Miguel’s birth shattered expectations – complex, overwhelming, and riddled with complications that no prenatal test had foreseen. What followed was an agonizing odyssey through the unknown, a relentless cycle of unanswered questions, medical consultations, and sleepless nights filled with fear.
For eight long years, uncertainty gripped their lives until, at last, a breakthrough emerged. The key to the mystery lay in artificial intelligence – specifically, the Face2Gene app by FDNA, a revolutionary tool that scrutinizes facial features to help pediatricians unveil genetic conditions. It was this technology that finally gave a name to their struggle: Pitt-Hopkins Syndrome.
The diagnosis, though devastating, was also a moment of clarity – a revelation forged in the crucible of years of searching, waiting, and hoping.
A Traumatic Birth
Miguel’s birth was quick but difficult. After 40 weeks of an uncomplicated pregnancy, Evelyn’s water broke at 11 p.m., and by 3 a.m., Miguel was born via natural delivery. However, the baby did not breathe at birth. “He made a faint sound, almost inaudible, and then passed out,” Evelyn recalls. She still has a video of that moment but avoids watching it. The obstetrician cut the umbilical cord and rushed Miguel away, leaving Evelyn and her husband in a state of confusion and despair.
About half an hour later, Miguel was back in his mother’s arms, but with obvious breathing difficulties. His Apgar score – used to assess newborn vitality – was low, initially a 5, later improving to 7. He needed an oxygen helmet for several hours and returned to Evelyn’s embrace only around 9 a.m., still struggling to breathe. “He was my first child; I had no idea what was happening,” she says.
The First Warning Signs
After birth, Miguel had trouble breastfeeding, something Evelyn, as a first-time mother, did not immediately recognize as unusual. Less than 24 hours later, they were discharged, only to return the next day: Miguel had jaundice and had lost weight. During a 12-day hospital stay, he struggled to feed. “I thought it was me, that my milk wasn’t coming in,” Evelyn says, regretting the lack of guidance.
Formula feeding through a bottle became the solution, and Miguel began to gain weight. Still, at three months old, Evelyn noticed differences: while other babies were active, Miguel was sleepy and “floppy.” “I had to wake him up to feed. It was nice that he slept through the night, but something felt off,” she recalls.
A Race for Answers
At five months, Evelyn’s growing concern led her to push for a referral to a neurologist. The initial diagnosis was motor delay, and therapies such as physiotherapy, speech therapy, and occupational therapy were recommended. However, Miguel’s development remained slower than expected, and irregular head growth raised new concerns. CT and MRI scans were conducted, but they provided no answers.
At nine months, the neurologist suggested cerebral palsy, though the absence of brain lesions – common in that condition – made Evelyn skeptical. “I researched everything, talked to other mothers, and nothing seemed to match,” she says. The search continued with a second neurologist and, later, genetic testing. In 2017, just before Miguel turned one,
a whole-exome sequencing test – an expensive DNA analysis – was performed, but the results came back normal.
The Pandemic and a New Hope
The COVID-19 pandemic put the search for answers on hold, but the birth of Evelyn’s second child, when Miguel was five, reignited her determination. “I was afraid my second child would have the same issues, but she was born strong and healthy – so different from him,” she says. In 2023, she was referred to a geneticist, Dr. Bruno Jhônatan Costa Bordest, who specialized in undiagnosed children.
Dr. Costa examined Miguel and, despite previous normal test results, suggested targeted genetic testing covered by insurance. Once again, results came back inconclusive. “I kept insisting: ‘My son isn’t just autistic; there’s something else going on,’” Evelyn recalls, frustrated by the broad diagnosis of global developmental delay with autistic traits, given to facilitate access to therapies.
Discovering Pitt-Hopkins Syndrome
The breakthrough came in 2024, thanks to a friend whom Evelyn had met when Miguel was two years old. Their unexpected friendship began on a beach in southern Brazil, when an elderly woman noticed similarities between Miguel and her grandson, Guto. Years later, that same friend consulted a geneticist who used the Face2Gene app – an AI-powered tool that analyzes facial features to suggest genetic syndromes. The results pointed to Pitt-Hopkins Syndrome for Guto, which was later confirmed by exome sequencing.
Inspired by her friend’s experience, Evelyn contacted Dr. Costa again, who then also used Face2Gene to analyze Miguel’s facial features. The tool indicated a high match for Pitt-Hopkins Syndrome. With this insight, the geneticist ordered a new exome sequencing, this time focusing on the genetic region associated with that syndrome. The exome confirmed it: Miguel had a mutation in the region and was diagnosed with Pitt-Hopkins Syndrome.
Technology as an Ally in Diagnosing Rare Diseases
Miguel’s case highlights the critical role of tools like Face2Gene in diagnosing rare diseases. Pitt-Hopkins Syndrome is an extremely rare genetic condition characterized by developmental delays, motor difficulties, breathing irregularities, and distinctive facial features. The rarity of these syndromes means that most physicians rarely encounter such patients, making it challenging to retain the full spectrum of their characteristics. Without AI-driven support, the diagnosis could have been further delayed – or even missed entirely.
Face2Gene not only accelerated the diagnostic process but also provided Evelyn and her family with much-needed direction. “The diagnosis changed everything for us. Now we
know what Miguel has, we can seek specialized treatments, and we can connect with other families facing the same challenges,” says Evelyn.
The Impact of a Diagnosis on Family Life
For Evelyn, the diagnosis brought relief and clarity. “So much guilt lifted off my shoulders. I didn’t know what was happening with my son, I didn’t know who to turn to. Now, I know where I stand,” she says. The diagnosis allowed the family to pursue targeted treatments and connect with other families navigating similar journeys.
For example, a common condition in Pitt-Hopkins patients is myopia. The diagnosis prompted Evelyn to test for it. Now, with prescription glasses, his quality of life significantly improved. “He couldn’t see beyond his nose. Now, he’s making much more progress because he can finally see,” Evelyn explains.
Evelyn and Miguel’s journey underscores the importance of investing in technologies like Face2Gene to accelerate rare disease diagnoses. For families facing years of uncertainty, these tools can be the key to finding answers and accessing proper treatments. Early diagnosis also enables families to connect with support communities, share experiences, and advocate for better care.
Evelyn concludes with gratitude: “Today, our family’s reality is completely different. The diagnosis changed our lives. And I’m so grateful for the technology that helped us find our way.” Miguel’s journey is a powerful testament to how technological innovation can transform lives and bring hope to those who need it most.
