Empowering Patients: The Story of ALAPA
In 2019, Argentina witnessed the emergence of a beacon of hope for individuals grappling with complex health challenges. The Argentine Read more
In Search of Answers: Paula Gödke’s Journey to her Daugther’s Rett Syndrome Diagnosis
We asked Paula Gödke, vice president of the Brazilian Rett Syndrome Association – ABRE-TE, to tell us about the odyssey Read more
Finding Hope: Navigating the Diagnostic Odyssey of Williams Syndrome
The Martin Family’s worries about their daughter Evie started early, but were dismissed by health professionals. It took years for Read more
Clinical cases using the Pediatrician View: Dr. Martinez Carrascal shows how it helped him unravel genetic complexities
Face2Gene’s Pediatrician View is a tool that aids pediatricians to evaluate the potential benefits of genetic testing for their patients. Read more
A Diagnostic Odyssey: Sandra’s journey to find out she had Acromegaly
Sandra Mesri, founder of the advocacy group Apehi, suffers from a condition called Acromegaly, a rare disorder that occurs when Read more
Diagnostic Odyssey: Brother and sister journey to find a diagnosis for Bardet Biedl Syndrome
Lauren’s birth was déjà vu for her parents. She had extra fingers, the same as her 7-year older brother Tyler Read more
Face2Gene helps to reduce time to diagnosis of rare genetic syndromes around the world
Two mothers from two different countries share a similar story: a 10 year long journey to find a diagnosis for Read more
A mother’s heart knows: Nicolas’ ten-year journey to a diagnosis
For ten years Maria Rayane knew something was not right with her son Nicolas. She was told by different specialists Read more
First Patient Diagnosed with Ultra-Rare Genetic Syndrome with the help of FDNA’s new AI Algorithm
Dr. Himanshu Goel utilized FDNA’s Artificial intelligence that instantaneously matches rare disease patients’ photos with other patients’ photos around the Read more
A Diagnostic Odyssey: It took almost 10 years for Glenn “Bug” Maughan’s family to find out he had KBG Syndrome
“When you know, when it has a name, even if it doesn’t have a cure, you can find a new Read more