Please Help Us

Donations

All donations go to research to find a cure for Angelina and children like her. 


About CASK

CASK Gene Mutations cause rare genetic disorders. Some children pass away in infancy and some pass away before they reach adulthood. Some children regress and lose all their skills that they have been fighting to achieve. Some of the symptoms of CASK Gene Disorders include:

  • Seizures  
  • Feeding issues 
  • Intellectual disability 
  • Speech language difficulties 
  • Some children learn to walk later in life with intensive therapies and some do not learn to walk at all 
  • Vison and hearing problems.  

For more information, please see www.acnrf.com

“In some ways, that CASK-linked pathology is degenerative in nature provides a positive outlook. Because microcephaly in CASK-linked pathology progresses postnatally, there may be a temporal window when therapeutic intervention might prevent or slow further brain cell loss. Regression, even in adolescence, has also been observed in some cases of MICPCH [119], again offering the tantalizing possibility that a therapeutic approach might prevent such decline under conditions when degeneration is known to progressThe potential benefits of intervention might extend even further given that non-cell-autonomous toxicity could also affect functioning of the remaining neurons; reduction of such toxicity, especially when coupled with high-intensity rehabilitative measures [120], might offer real hope for a positive impact on functional outcomes.”   

https://www.mdpi.com/2073-4409/11/7/1131/htm