for good. She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.
Rare diagnosis: Latest Post
Mariah: THAP12 Mutation
Having the only two known cases of a genetic mutation called THAP12, Mariah has used her daughter's condition for good. She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis. THAP12: The Only Two in The...
Rare diagnosis
Sandra: ADNP Syndrome
It took six years for Sandra to receive a diagnosis for her son Tony. He was diagnosed with ADNP syndrome and was the 11th person to be diagnosed. With little information available, Sandra set out to create more awareness for her son’s extremely rare...
Nicole: Single Gene Mutation
Jacob is the first person to ever be diagnosed with a single gene mutation. His parents have learned to live in the moment and love their journey with him.
Maria and Brandon: Chromosomal Deletion 9Q
Chase has Chromosomal Deletion 9Q, a rare genetic condition, and a cleft lip and palate. Despite all the unknowns, his parents live each day to the fullest.
