Kaitlyn, 33, learned that her daughter, Judith, had a condition called CDKL5 deficiency disorder (CDD) when she had convulsions shortly after her birth. Along with her epilepsy, Judith, now 11, also has trouble with focusing on faces, moving on her own, and speaking with others. At first, Kaitlyn was overwhelmed with the responsibility of caring for Judith as a new mother. But as she shares with Medical Stories in National Harbor, Maryland, her family helped provide Kaitlyn the strength she needed to support her daughter. Meanwhile, in Sewell, New Jersey, 60-year-old Sandra is living with Pompe disease, a genetic disorder that severely weakens a person's muscles. Because the condition is rare, it took decades before Sandra received a correct diagnosis. Medical Stories sits down with Sandra, who tells us about her journey to get answers to the questions she's had for years - and how even after her diagnosis, she refuses to let the disease "take over my life." This episode also features in-depth commentary from renowned experts Elia M. Pestana-Knight, MD, Neurology Specialist, Epilepsy Center, Cleveland Clinic; Orrin Devinsky, MD, Director, NYU Langone Epilepsy Center; and Barbara K. Burton, MD, Professor of Pediatrics (Genetics, Genomics, and Metabolism), Northwestern University Feinberg School of Medicine.
Broadcast In: English Duration: 0:26:44