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Our Cask Heroes

Honouring every journey. Celebrating every life

On this page, we share the deeply personal stories of individuals with CASK gene disorder around the world, those who continue to inspire us every day, and those whose memory lives on in the hearts of our community.

James

James

“James is a little boy with a beautiful smile, a gentle spirit, and a rare genetic condition called CASK syndrome with MICPCH.”
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Angelina

Angelina

“Angelina is a bright, beautiful, and deeply loved little girl whose spirit brings joy to everyone around her.”
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Ellie

Ellie

“I love music, especially “Let It Go”, and my favorite book is Pete the Cat: I Love My White Shoes”
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Tenly

Tenly

"Tenly loves her family, crawling after dogs, swimming, and dancing!"
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Lia

Lia

"Lia is always so brave, almost never cries, and always has a smile on her face."
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Ivy

Ivy

“We were unsure what life would look like for our baby girl but she shows us all the time how strong and happy she is!”
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Charlotte

Charlotte

“Her demeanour is cheerful, and she is very affectionate”
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Em

Em

Em is 2 and lives in Sydney.
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Tristian

Tristian

“Tristian is very much loved and was able to touch the souls of many”
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Albert

Albert

“ RIP Albert John Hemphill 5th.”
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Haillie

Haillie

“Albert went to heaven on 27 February 2022. I am also a CASK hero”.
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Andrea

Andrea

"Andrea was 21 years of age when angels took her to heaven on 21 December 2021."
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Audrey

Audrey

Audrey is 6 years old and lives in California , USA.
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Mia

Mia

Mia is 10 years old and lives in Paris France.
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Audrey

Audrey

“The doctors told me she would never “walk, talk or be a ballerina” So she became a surfer instead!”
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Christina

Christina

“I can now get out of the car by myself. A great achievement considering I was never supposed to walk. And I can do that”
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Enora

Enora

“I love looking at trees outside, hearing birds, staying in my swing with my grand sister and when people play with me."
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Sarah

Sarah

“I'm an amazing traveller, loving bumping about in my adapted Van! Although my laugh is a little quieter these days, it's still the best giggle ever."
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Elsie

Elsie

“I love the water, swimming, drawing, giving lots of cuddles”
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Vivie

Vivie

“Her demeanour is cheerful, and she is very affectionate”
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Your voice matters.

Sharing your CASK journey helps raise awareness, build community, and drive change.

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Tristian

Tristian Kali Ziegler

This is Tristian Kali Ziegler, he was born a twin on March 9 2020. He passed on May 15 2020. His body was donated to Professor Mukherjee so as to facilitate the advancement of medical research for children like Tristian.

Tristian is very much loved and was able to touch the souls of many.

Albert

This is Albert from North Carolina . He was diagnosed with a cask gene mutation in June 2021 and passed away on 27 February 2022 at the age of 1. RIP Albert John Hemphill 5th.
Photo-6
Haillie

Haillie

This is Haillie and I am Albert’s sister . Albert went to heaven on 27 February 2022. I am also a CASK hero.

Mia

Mia is 10 years old and lives in Paris France. Mia is one of four children who has been diagnosed with the Cask disorder who is living in France.
Mia
Sarah

Sarah

Sarah is 3 years old and lives in Hampshire, England.

Audrey

Audrey is 8 years old and lives in New York , USA.
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Vivie

Vivie

Vivie is 5 years old and lives in Sydney, Australia

Audrey

Audrey is 6 years old and lives in California , USA. She is working on independent walking and using her AAC device to help communicate. She works SO hard every single day and is her mummy & Daddy’s Sunshine.
Audrey

Andrea

Andrea was 21 years of age when angels took her to heaven on 21 December 2021. Andrea was diagnosed with the CASK Gene Mutation within days of going to heaven. She loved camping and Walt Disney World and touched the lives of those around her with her beautiful heart and kindness. She is missed so much but will never be forgotten. 

Andrea
em

Em

Em is 2 and lives in Sydney. Em is trying to learn to walk.

Charlotte

Charlotte resides in Australia with her parents and two younger siblings. She has a strong passion for aquatic activities, such as swimming and boating with her family. Charlotte is an adventurous child who enjoys participating in excursions, particularly to playgrounds. Her demeanor is cheerful, and she is very affectionate. Charlotte displays dedication to her therapies, focusing on enhancing her mobility and communication.

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Lavvina Thiyagarajan

MBBS

Lavvina is a clinical genetics fellow from NSW, Australia with a background in general paediatrics. She has practiced in multiple tertiary paediatric hospitals in Australia, both in general paediatrics and clinical genetics. She currently provides specialist advice for the NGO, Taking Paediatrics Abroad and is a member of GeneEQUAL, an inclusive research group aiming to improve accessibility of genetic testing and care for people with intellectual disability by co-design.

Lavvina’s clinical interests are in the genetics of autism, intellectual disability and immunogenomics. She is particularly passionate about including the patient groups she works with in research and healthcare decisions.

Lavvina is affiliated with The Children’s Hospital Westmead and the University of New South Wales where she is undertaking a Masters by Research, co-producing a model of genetic healthcare that aligns with the preferences of Autistic people.

Permission to Use Photos and Media

I, the undersigned, give my consent to the Angelina CASK Neurological Research Foundation Ltd and Angelina CASK Neurological Research Foundation Inc (ACNRF) to use photographs, videos, or other media featuring me, my child, or an individual under my legal guardianship (“Media Materials”).

This consent permits ACNRF to use these Media Materials for purposes such as:

  • Raising awareness of CASK-related disorders
  • Promoting ACNRF’s initiatives, campaigns, and programs
  • Sharing on ACNRF’s website, social media, newsletters, and other communication channels
  • Use in advertising, educational resources, and fundraising efforts.

I understand that these materials may be distributed publicly and may appear in print, digital, and other media formats worldwide and in perpetuity.

Terms and Conditions:

1. Usage Rights: I grant ACNRF the right to edit, adapt, or modify the Media Materials as needed for the purposes outlined above.

2. No Compensation: I acknowledge that no monetary or other compensation will be provided for the use of the Media Materials.

3. Release of Claims: I waive any rights to inspect or approve the final product and release ACNRF from any claims, liabilities, or damages related to the use of the Media Materials, including but not limited to claims of defamation, privacy, or copyright infringement.

4. Ownership Confirmation: I confirm that I have the authority to grant these rights for the provided Media Materials and that they do not infringe on the rights of any third party.

This authorisation is voluntary and may be revoked by written notice to ACNRF at any time, though I understand that materials already published may not be withdrawn.

“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 progress. The 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