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Joubert Syndrome Type 6: Managing Complex Needs with Therapy and Care Team Support
Joubert Syndrome is a rare genetic disorder that affects the brainstem and cerebellum, leading to coordination, breathing, and developmental challenges. Type 6, in particular, may involve more significant medical concerns such as hypotonia (low muscle tone), respiratory instability, vision and kidney involvement, and feeding and motor delays. Families facing a diagnosis of Joubert Syndrome Type…
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Williams Syndrome: Parenting with Joy and Sensory Awareness
Williams Syndrome is a rare genetic condition caused by the deletion of genetic material from chromosome 7. Children with Williams Syndrome often have a distinctive profile: exceptional verbal and social strengths, deep emotional sensitivity, and a love of music, alongside challenges like heart conditions, mild to moderate intellectual disability, motor delays, and sensory sensitivities. For…
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Kabuki Syndrome: Coordinated Care and Confidence for Medically Complex Families
Kabuki Syndrome is a rare genetic condition that affects multiple body systems and presents with a wide range of medical, developmental, and behavioral challenges. Children with Kabuki Syndrome may experience low muscle tone, feeding difficulties, hearing loss, immune deficiencies, heart conditions, and intellectual or learning disabilities. Because it impacts so many areas of a child’s…
