“When Rachel and Rob brought their 7-month-old baby boy to Children’s Hospital of Philadelphia (CHOP) for feeding issues and difficulty gaining weight, they had no idea it would launch a diagnostic odyssey that would take years to identify, wind up involving all three of their children and lead to the discovery of a gene not previously associated with a human genetic disease.
Today, the family is among just seven in the world to be diagnosed with ER Degradation Enhancing Alpha-Mannosidase Like Protein 3 congenital disorder of glycosylation (EDEM3-CDG), a newly recognized genetic condition.”
Read more about one family’s journey to CDG diagnosis here