Episode 25 | Meredith Howell’s Story – a daughter with a rare genetic condition (BBSOAS)




Child Life On Call show

Summary: Meredith, mom to now 8-year-old Lola, shares her experience with her daughter who was diagnosed with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). From infantile spasms to possible lissencephaly (smoothing of the brain), they searched for answers and were eventually led to the NR2F1 gene mutation which explained many of Lola's symptoms. Meredith gets real in our conversation about the ups and downs associated with having a child with special needs.