#RareDiseasesNews: A little boy was undiagnosed until the age of 4 and then in 1 day a geneticist solved a great puzzle. A new syndrome was discovered and a family finally got some answers.
There are still no therapies, the syndrome does not even have a name yet, but the diagnosis gave the family some confort and a path to follow! #DiagnosisMatters!
Read the full story HERE