Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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 […]
Founded in 2017, the Spanish Coffin Siris Syndrome Association is an organization dedicated to supporting families affected by this rare genetic disorder. In an exclusive interview with Alejandra Paredes, president of the association and mother of a daughter with Coffin Siris Syndrome (CSS), we learned about the challenges faced by the families and about the […]
In 2019, Argentina witnessed the emergence of a beacon of hope for individuals grappling with complex health challenges. The Argentine Alliance of Patients (ALAPA), a non-profit organization, came into being through the vision and determination of two remarkable women: Florencia Braga and Carolina Oliveto. Their direct connection to Stargardt disease, with Carolina as a patient […]
We asked Paula Gödke, vice president of the Brazilian Rett Syndrome Association – ABRE-TE, to tell us about the odyssey to arrive to her daughter’s diagnosis: Aline has Rett Syndrome. “I wish I had been listened to earlier, that my fears and suspicions had prompted professionals to take a second look at the case and […]
The Martin Family’s worries about their daughter Evie started early but were dismissed by health professionals. It took years for these worries to be considered and to finally get to the diagnosis of Williams Syndrome. Evie’s mother says that while microarray testing has made it easier for Williams Syndrome detection, it is dependent on a […]
Face2Gene’s Pediatrician View is a tool that aids pediatricians in evaluating the potential benefits of genetic testing for their patients. Dr. Antonio Martínez Carrascal, the Head of Pediatrician Services at Hospital de Requena, Spain, has been at the forefront of incorporating this innovative tool into his practice. Through a series of enlightening videos, Dr. Carrascal […]
Sandra Mesri, founder of the advocacy group Apehi, suffers from a condition called Acromegaly, a rare disorder that occurs when your body produces too much growth hormone (GH). Just as it often happens with rare diseases, she struggled to find the diagnosis. It took her more than three years to finally get an answer as […]
Lauren’s birth was déjà vu for her parents. She had extra fingers, the same as her 7-year older brother Tyler when he was born. This made them think that they might have a genetic condition since they also shared similar symptoms such as developmental delay. It would take 3 more years for them to be […]
Two mothers from two different countries share a similar story: a 10 year long journey to find a diagnosis for their sons. Early photographs of their sons uploaded to Face2Gene indicated a high match with the syndromes they were later diagnosed with. Nicolas (left) and Bug (right) 3-year-old portraits match on Face2Gene to their eventual […]