Health Podcast Library
Season 3

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

Apr 4, 2019
49:59

Episode Description

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) shortly after she was three-years-old. However, their story didn't begin there.

As an adventure, Meredith talks about how she and her husband moved to Costa Rica from Indiana after they were married. Lola was born there and shortly after birth, her mom began having questions about her health and development. 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 who is legally blind and has developmental delays. She talks about her own struggles and how she finds balance being a working mom.

If you would like to connect with Meredith, you can send her an email or find her on Instagram and Facebook at Say Hola Lola.

Please rate and review this podcast on iTunes so that it makes it easier for other parents and listeners to find us.

Child Life On Call | Instagram | Facebook | Twitter

Proudly Supported by

Patrons of Health Podcast Library

AAOS Now Podcast
Achieving Health
AAOS Career Podcast
OrthoInfo
Stronger After Stroke
Aging Like a Pro
Who the Health Cares? with Prof Michael Sparer

Supporting Shows

This Just In Radio Show
HIT Like a Girl Pod: Empowering Women in Health IT
Healthcare for Humans
Cuts and Consults
Beyond The Paper Gown Podcast
Speak Up For Your Health
Coffee Break: Breaking the Cycle of Bullying in Healthcare, One Cup at a Time
Thriving with Addiction with Dr. Jonathan Avery
Hopeful Hints
Faces of Digital Health