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Podcast: Once Upon A Gene
Episode: Thanatophoric Skeletal Dysplasia with Ashequka Lacey
Description: Thanatophoric Skeletal Dysplasia with Ashequka LaceyAshequka Lacey is a fierce mama bear to Jakobi who was born with thanatophoric skeletal dysplasia which results from a mutation in the FGFR3 gene. Thanatophoric dwarfism is a severe skeletal disorder, but Jakobi has as much strength and determination in his little body as his mom. EPISODE HIGHLIGHTSTell me about Jakobi.> Jakobi is 18 months old and was born with a rare form of dwarfism called thanatophoric skeletal dysplasia. The gene mutation resulted in short limbs, a small rib cage and s...