Thanatophoric Skeletal Dysplasia with Ashequka Lacey

Once Upon A Gene · Sep 24, 2020 · 35m

Thanatophoric Skeletal Dysplasia with Ashequka Lacey

Ashequka 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 HIGHLIGHTS

Tell 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 small lungs, so he is ventilator dependent. At 20…