Little Miracles for Kids
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A Health Promotion Charity

Every child deserves the chance to live their fullest life.

We fund research and targeted therapies to prevent, control, and cure rare genetic diseases in children — starting with CTNNB1 syndrome.

Donate Learn about CTNNB1

We understand the rare disease journey.

As parents of children with rare diseases, we truly understand what “rare” means and the profound impact it has on everyday life.

We know what it’s like when many health professionals — including GPs and even specialists — hear the name of our child’s condition for the first time from us.

We understand that government funding and service models are designed for the majority and often fail to adequately support rare diseases. In many cases, services may not even recognise a condition simply because it has not been formally profiled.

We believe our children deserve the same chance to thrive as any other child, and we work to close the gaps.

Focus with purpose.

According to NORD, there are more than 10,000 known rare diseases and fewer than 5% have an approved treatment.

We are a small charity with limited resources. Our current focus is CTNNB1 syndrome.

Source: National Organization for Rare Disorders (NORD)

10,000+
Rare diseases identified worldwide
Fewer than 5% have approved treatments.

What is CTNNB1 syndrome?

CTNNB1 syndrome is a genetic neurodevelopmental condition. The CTNNB1 gene makes a protein called beta-catenin, which helps cells communicate and plays an important role in brain development. When CTNNB1 does not work properly, brain development and motor pathways can be affected.

Many cases are caused by a new (de novo) change, meaning it is not inherited from parents. A change in just one copy of the gene can be enough to cause the condition.

This is a severe neurodevelopmental condition. Published studies describe moderate to severe intellectual disability, absent or very limited speech, and significant movement challenges such as motor delay and spasticity. Vision problems are also common. These features often have a major impact on walking, communication, and day-to-day independence.

Families often notice:

  • Developmental delay or intellectual disability
  • Limited or absent speech
  • Movement challenges, including motor delay and spasticity
  • Vision problems
  • Small head size (microcephaly) in some children

In the medical literature, CTNNB1 syndrome is also described as a neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Large genetic studies of cerebral palsy show CTNNB1 among genes with damaging de novo mutations associated with CP risk, which helps explain why some children first receive a CP diagnosis before genetic testing provides the underlying genetic cause.

Sources: Verhoeven et al., 2020 (PubMed), Kuechler et al., 2015 (PubMed)

Our Programs

Therapy Fund

Rare disease relief for therapies that create real change.

Conventional therapy often leads to conventional results. We fund evidence-informed therapies and treatments with strong track records and measurable impact for children with rare disease.

We fund therapies not covered by Medicare, NDIS, or private insurance. These therapies can range from Dyskap, JKA Movement Therapy, and the Feldenkrais Method, to myofasciotomy surgeries.

Cure CTNNB1 Fund

Targeted research. Clear clinical pathways. Real timelines.

We fund research and drive collaboration to prevent, control, and cure CTNNB1 syndrome.

With limited resources, we focus on programs with the highest potential impact, clear milestones, and a defined clinical path. We do not fund exploratory research at this time, while recognizing its importance.

How we spend our money

Based on the ACNC financial statement for FY 24-25.

Per our Constitution, directors are not paid for their service, so you can be confident your support goes to funds that directly benefit children with rare disease.

FY 2024–25

Expenses
Grants and donations made for use outside Australia · 52.50%
Grants and donations made for use in Australia · 44.49%
All other expenses · 3.01%

Source: ACNC documents

Compliance and trust

Little Miracles for Kids Foundation Limited is a public company limited by guarantee. All income and property are applied to our charitable purposes, and directors are not paid for their service.

ABN: 56 671 798 735
ACN: 671 798 735
Registered with ACNC: 29 Sep 2023
DGR endorsed: 29 Sep 2023
Charity subtype: Health Promotion Charity

Visit our ACNC profile · ACNC charity certificate (PDF) · Read our Constitution (PDF)

We’d love to hear from you.