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Niemann Pick Disease

All articles tagged with #niemann pick disease

health2 months ago•43 min saved

Parents Discover They Carried a Rare Gene Mutation After Their Two Children Were Diagnosed with Niemann-Pick Disease

An Ohio couple learns, after genetic testing, that both parents unknowingly carried the same rare mutation, leaving their two children Roman (7) and Stella (6) diagnosed with Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease Type A/B. The disease can cause liver issues, vomiting, seizures and neurodegeneration; with no cure, the family has pursued aggressive treatments to slow progression, including bi-weekly infusions, while navigating pregnancy and caregiving. Their children have lived beyond initial life expectancy, and the parents have become advocates to improve access to treatment for other families dealing with ASMD, emphasizing resilience and hope.

via Yahoo|

#asmd #family-journey #genetic-testing

health2 years ago•1 min saved

Childhood Dementia: Rare Disease Diagnosed in 8-Year-Old

Eight-year-old Abby Alvey has been diagnosed with Niemann-Pick Disease (NPD), a rare condition that causes childhood dementia. Abby's father describes the devastating effects of the disease, including the loss of motor skills and speech. Despite the prognosis, Abby's family is focused on finding normalcy and maximizing her life experiences. They have created a character called "Abby Strong" to help her understand and fight her condition. The family hopes to take Abby on a trip to Disney World, allowing her to live her life to the fullest and not give up.

via WKRC TV Cincinnati|

#abby-alvey #childhood-dementia #health

health2 years ago•2 min saved

Childhood Dementia Diagnosis: 8-Year-Old Faces Unprecedented Challenge

Eight-year-old Abby Alvey has been diagnosed with Niemann-Pick Disease, a rare condition that causes childhood dementia. The disease leads to a progressive loss of motor skills, speech, and cognitive abilities. There is currently no cure for the disease, and most children with Niemann-Pick Disease die from infection or neurological decline. Abby's family is focused on maximizing her life experiences and creating a sense of normalcy. They have even created a character called "Abby Strong" to help her understand the fight she's facing. The family hopes to take Abby to Disney World to give her the chance to live life to the fullest.

via WRAL News|

#childhood-dementia #health #niemann-pick-disease

health3 years ago•2 min saved

Childhood Dementia Takes Toll on Siblings' Lives.

Renee Staska, a mother from Australia, revealed that all three of her young children have been diagnosed with childhood dementia caused by Niemann-Pick disease type C1, a rare genetic mutation. The disease has no known cure, and most children die in their teenage years. Staska's children, Hudson, Holly, and Austin, are not expected to survive until adulthood. The symptoms of the disease include an enlarged liver and spleen, difficulty coordinating movement, and difficulty with speech and swallowing.

via New York Post |

#childhood-dementia #genetic-mutation #health