ONCE UPON A GENE - EPISODE 049 - 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?
The delivery was smooth. I did have a c-section because Jakobi was breech. His legs were too short to flip himself around. There were three teams of medical professionals at Jakobi's delivery and everything happened fast. Jakobi came out screaming, with a head full of hair, big cheeks and weighing 6 lbs. 13 oz. Jakobi was taken directly to Nationwide Children's Hospital upon delivery.
Did Jakobi's birth bring a force out in you?
It changed me because I went through so much emotionally. Once he was here, I needed to protect him. I also have a 10 year old, Ameir but he never needed me to protect him in the same way. Jakobi brought out a different side of me and I was determined to care for Jakobi, to see that he got the best care and to take him home.
What happened when you got to bring Jakobi home?
Once he finally got to come home, it was doing everything I had already been doing at the hospital, just without the nurses. A month after he was sent home, he was re-admitted because his shunt had been exposed and he got bacterial meningitis. He was hospitalized for another month before he came home.
How has Jakobi impacted Ameir's development?
It has matured him. He takes care of Jakobi, feeds him, calming him and ensuring he has the things he needs. He just refuses to change diapers. Ameir is a lover, he has a deep understanding and so caring when it comes to Jakobi.
How has Jakobi changed you?
Jakobi has changed everything for me. I don't complain about much, my world has taken a turn in terms of what I do for business. I'm more appreciative of the small things. I have an 18 month old who has had 6 surgeries, who is connected to a vent and he still smiles and lives his life. I'm a working mom, I'm a single parent, I've started two businesses and wrote a book all while having two kids. For me, it gave me a different type of drive.
Can you tell us about your book?
I self-published a book called Jakobi and Me about Ameir and Jakobi from Ameir's point of view about having a sibling with special needs. It explains Jakobi's condition in laymen's terms and explains that even though Jakobi looks different, he's just like any other baby. You can purchase the book online.
What do you want people to know about your family?
I want people to know that regardless of having a child with special needs, life goes on. Certain things happen that may come with challenges, but never give up. I've dealt with so much, but it has never been enough to keep me down or keep me from my dreams and what I want to do. Ameir gave me something worth living for and Jakobi gave me more of a reason to live and do things.
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