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Our Cask Heroes

Ellie

Meet Ellie Naughton

Ellie Naughton is a sweet, joyful 8‑year‑old girl living with a rare CASK gene disorder. Her specific mutation is a deletion, meaning a large portion of the gene coding is missing. Ellie has a twin sister, Ivy, and an older sister, Scarlette, who are her constant companions and biggest cheerleaders.

Ellie’s Journey

From the very beginning, Ellie’s parents noticed she was different from her twin. Feeding was difficult, sleep was disrupted, and her muscles seemed weaker. At just three months old, doctors began a long journey of tests and referrals. After an initial misdiagnosis, genetic testing finally revealed the truth: Ellie has a CASK gene mutation, a rare condition that affects brain development and overall growth.

By 18 months, Ellie had already faced hospitalizations and received multiple diagnoses, including seizures, low muscle tone, visual impairment, and the need for a feeding tube. Despite these challenges, Ellie’s family found relief when she received her G‑tube — for the first time, she could feel full and rest peacefully.

Daily Life

Ellie’s days are filled with hard work. She uses a chest therapy vest each morning, receives multiple medications through her G‑tube, and eats blended meals four times a day. Her care team includes six specialists and several therapists, most located nearly 90 miles away. Managing appointments and treatments is a full‑time commitment, but Ellie faces it all with quiet strength.

Her smiles are rare, but radiant — sometimes appearing after a seizure, sometimes in moments of pure joy. Each one is treasured by her family as a reminder of her spirit.

Ellie’s Joys

Ellie is more than her medical chart. She loves music, especially “Let It Go”, and her favorite book is Pete the Cat: I Love My White Shoes. She enjoys crafts, games, Girl Scouts, and spending time outdoors. She has traveled across the country for intensive therapy programs, always working hard to gain new skills like writing her name.

Her determination inspires everyone who meets her. She shows us that even in the face of enormous challenges, children can achieve incredible things with love, support, and perseverance.

Why We Share Ellie’s Story

Ellie’s journey is a powerful reminder of why this foundation exists. Families like hers need resources, research, and community support to navigate rare disorders. By sharing her story, we hope to:

  • Raise awareness of CASK disorders
  • Support families facing similar challenges
  • Advocate for research and better treatments

Ellie’s courage and determination light the way forward. With your help, we can bring hope, joy, and strength to children like Ellie.

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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