Posts tagged genetic mutation
Colbie
Colbie

Meet Colbie and learn about life with KIF1A, a rare neurodegenerative disease.

KAND | KIF1A | neuropathy | spasticity | seizures | developmental delay | optic nerve atrophy | hypotonia | ataxia | cerebellar atrophy | Associated Neurological Disorders | neurodegenerative disease | rare diseases | chronic disease | genetic mutation | inclusion | inclusion matters | disability education | disability advocate

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share your storyMacy Gilsonneuropathy, spasticity, seizures, developmental delay, optic nerve atrophy, KAND, KIF1A, hypotonia, ataxia, cerebellar atrophy, OT, PT, Hippotherapy, Speech therapy, Associated Neurological Disorders, neurodegenerative disease, rare diseases, chronic disease, genetic mutationComment
Emma and Abby
Emma and Abby

Learn more about Emma and Abby, two sisters with a rare genetic disorder called THAP12!

infantile spasms | genetic mutation | disability advocate | special needs | special needs family | special needs parenting | inclusion | inclusion matters | infant epilepsy | epilepsy | disability education | disability advocate

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share your storyMacy Gilsongenetic mutation, THAP12, rare disease, rare genetic syndrome, rare deletion, rare chromosomal deletion, infantile epilepsy, epilepsy, epilepsy warrior, infantile spasms, genetic disease, lightning and love, seizure disorder, seizure, stem cell research, brain MRIComment