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Our Cask Heroes

James

James’ Story – A Life That Matters

James is a little boy with a beautiful smile, a gentle spirit, and a rare genetic condition called CASK syndrome with MICPCH. While his diagnosis is rare, the challenges he faces every day are immense.

From the very beginning, James’ journey has been filled with uncertainty. He has complex medical needs that require around-the-clock care. He is unable to sit independently, walk, or speak, and he relies on a feeding tube for nutrition. He also lives with seizures, respiratory complications, and neurological challenges that mean even a common cold can quickly become life-threatening.

In a short life, James has already spent an extraordinary amount of time in hospital. There have been countless ambulance trips, emergency department visits, lengthy admissions, and sleepless nights spent by his bedside. Hospital has become a second home for our family, and every discharge comes with the hope that we’ll stay home a little longer.

James is now receiving palliative care—not because we have given up hope, but because he deserves the best possible quality of life. Palliative care helps manage his complex symptoms, supports our family, and ensures every day is as comfortable and meaningful as it can be.

Living with a child who has CASK syndrome affects every aspect of family life. Our days revolve around medications, tube feeds, suctioning, appointments, therapies, equipment, and constant monitoring. Simple outings require military-style planning, and sleep is often interrupted by the need to care for James throughout the night. Yet despite the challenges, James continues to teach us what truly matters.

He reminds us to celebrate the smallest milestones—a smile, a laugh, a moment of comfort, a cuddle. He has shown us incredible strength, resilience, and unconditional love. His life may look different from what we imagined, but it is no less valuable.

Because CASK syndrome is so rare, families often feel isolated, and there are still many unanswered questions about the condition. Research offers hope—not only for a better understanding of CASK syndrome but also for improved treatments, better care, and one day, perhaps, therapies that can change the future for children like James.

By sharing James’ story, we hope to raise awareness of this rare condition and highlight why research is so important. Every child living with CASK syndrome deserves to be seen, understood, and given the best chance at life.

James may never know the impact he has had on the world, but through research, advocacy, and the love he inspires, his story has the power to make a difference for families now and for generations to come.

James
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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