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Parenting Through Medical Complexity: A Kabuki Syndrome Guide
Parenting a child with Kabuki Syndrome often means managing complex medical needs alongside daily family life. With potential challenges ranging from heart conditions and feeding difficulties to immune system concerns and developmental delays, it’s easy to feel overwhelmed. But with careful planning, trusted care teams, and strong parent advocacy, families can create routines that support…
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Finding Community Support When Raising a Child with Microcephaly
Raising a child with Microcephaly can feel isolating, especially when friends or family don’t fully understand your daily challenges. But the truth is—you are not alone. Across the world, countless parents are navigating similar experiences, learning from one another, and building meaningful communities of support. Whether you connect online, in-person, or through healthcare providers, building…
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Practical Family Tips for Living with Nemaline Myopathy
Nemaline Myopathy (NM) is a rare genetic muscle disorder that causes muscle weakness, low tone (hypotonia), and fatigue. Families navigating NM often become creative problem-solvers—finding ways to adapt daily routines, support their child’s energy, and celebrate every milestone. No two children with NM are exactly alike. Some may walk independently, others may use mobility aids.…
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Trisomy 8: Navigating Rare Diagnoses and Family Conversations
Trisomy 8, often referred to as Trisomy 8 Mosaicism Syndrome (T8MS), is a rare chromosomal condition where an extra copy of chromosome 8 appears in some—but not all—of the body’s cells. This genetic mosaicism means symptoms and outcomes can vary widely. Some individuals may have few or no noticeable effects, while others may experience developmental…
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Chromosome 22 Duplication: Family Life, Therapy, and School Support
Chromosome 22 Duplication Syndrome is a rare genetic condition caused by an extra piece of genetic material on the 22nd chromosome. Because duplications can vary in size and location, symptoms and developmental outcomes differ widely from child to child. Some children may experience delayed milestones, speech and language challenges, learning disabilities, autism-like traits, or hypotonia…
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Living with Nemaline Myopathy: Family Support and Daily Function with Low Muscle Tone
Nemaline Myopathy (NM) is a rare neuromuscular disorder that affects voluntary muscle strength. It’s caused by genetic mutations that impair the structure and function of muscle fibers. Children with NM often have low muscle tone (hypotonia), muscle weakness, and may experience breathing, feeding, and mobility challenges depending on the severity of their condition. Living with…
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Dandy-Walker Syndrome: Family Life and Everyday Mobility Solutions
Dandy-Walker Syndrome is a rare congenital brain condition that affects the cerebellum—the part of the brain responsible for movement, coordination, and balance. It often involves enlargement of the fourth ventricle, partial or complete absence of the cerebellar vermis, and increased fluid buildup (hydrocephalus). For many families, this diagnosis brings a range of questions: How will…
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Caring for a Child with Cerebral Palsy: What Every Family Should Know
Cerebral Palsy (CP) is a lifelong condition that affects muscle tone, movement, and posture. It is caused by abnormal development or damage to the parts of the brain that control movement, often before birth. While the condition varies widely from child to child, what remains constant is the need for compassionate, individualized support—at home, in…
