Skip to content

AUSTRALIA

Newly Diagnosed

I know when I first was told the genetic cause of my daughter Angelina’s brain abnormalities it initially felt overwhelming, a number of questions I immediately asked myself were questions like “what does this mean? Will she die young? Will she ever learn to walk? Will she ever say mum? Will she ever play like other children?”

What helped me during this time and even now, was speaking with other parents in similar situations whether its another CASK family, or another family with a child with special needs or a rare disease, it really helped to feel like I was not alone and someone out there just understood.

There is a fantastic CASK Gene Parent Support Group on FB – please join this and you will find lots of questions, answers, stories, help, laughs, tears but each of those families have a silent understanding and great respect for each other.

The CASK Gene Parent Support Group 

https://www.facebook.com/groups/caskgene/?ref=share_group_link 

Please also see this Information Booklet on CASK which is provided by Unique a Charity in the UK for rare disorders.

( View Booklet )

There are a number of CASK Foundations with valuable resources please see below links to each:

“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