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Thanatophoric Skeletal Dysplasia with Ashequka Lacey

Once Upon A Gene

Thanatophoric Skeletal Dysplasia with Ashequka Lacey

ONCE UPON A GENE - EPISODE 049
September 24, 2020

Thanatophoric Skeletal Dysplasia with Ashequka Lacey

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 weeks pregnant, I found out there were abnormalities when I went for a gender scan. Another ultrasound was done to take measurements and although they weren’t sure about what type of dwarfism Jakobi had, the doctor let me know that it was lethal and they advised I terminate the pregnancy. 

What happened after he was born?

Did Jakobi’s birth bring a force out in you?

What happened when you got to bring Jakobi home?

How has Jakobi impacted Ameir’s development?

How has Jakobi changed you?

Can you tell us about your book?

What do you want people to know about your family?

LINKS AND RESOURCES MENTIONED

Jakobi Bays IG

https://www.instagram.com/babybays19

Jakobi and Me Book

jakobiandmebook.com

Jakobi’s GoFundMe

https://www.gofundme.com/f/jakobis-need

Jakobi’s Amazon Wishlist

https://www.amazon.com/hz/wishlist/ls/A5HHKM6B3E2Z?ref

TUNE INTO THE ONCE UPON A GENE PODCAST

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https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7

Apple Podcasts

https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347

Stitcher

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Overcast

https://overcast.fm/itunes1485249347/once-upon-a-gene

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/

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