The Importance of Seeing Rare Disease Patients Holistically: Eric & Kristi Levine, Parents of a Child with CACNA1A

"It was pretty apparent to me that something was going on with him," says Kristi Levine, describing the realization that, based on her experience as a Montessori teacher, her infant son, Trey, was missing developmental milestones. Unfortunately, Kristi’s hunch turned out to be correct and Trey was later diagnosed with a rare genetic mutation called CACNA1A which is impacting his motor skills, balance, coordination and speech. Kristi and her husband, Eric, join host Michael Carrese on this installment in our Year of the Zebraseries to help us understand the disorder and its implications for Trey and their family, which includes Trey’s older sister Stella.  “There's a lot of guilt involved in being a parent of a child who has a disability because you never feel like you're doing enough,” shares Eric, even though they both work full time and have becoming experts at juggling work, caregiving, advocating, and volunteering with the CACNA1A Foundation. In this candid interview, Eric and Kristi discuss the challenges of parenting a child with complex medical needs, the importance of community support, the ongoing search for treatment options, and share some advice for clinicians caring for patients and families living with rare disorders. “We just want medical professionals to respect and understand what we're dealing with on a day-to-day basis and to see our kids holistically, and not just try to fix the problem medically. Understand that for us, the biggest thing that we want for our kids is just their quality of life.”

Mentioned in this episode:
CACNA1A Foundation

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