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CHAMP1 UK's Story
CHAMP1-related neurodevelopmental disorder is an ultra-rare genetic condition caused by changes to the CHAMP1 gene. For our "CHAMPs," this often means living with:Significant speech and language impairment: Most individuals have severe delays and many are non-verbal or minimally verbal.
CHAMP1-related neurodevelopmental disorder is an ultra-rare genetic condition caused by changes to the CHAMP1 gene. For our "CHAMPs," this often means living with:
Significant speech and language impairment: Most individuals have severe delays and many are non-verbal or minimally verbal.
Movement and Muscle Tone Challenges: Low muscle tone (hypotonia) and joint hypermobility are very common, often delaying milestones like sitting and walking.
Intellectual Disability: Our CHAMPs experience varying degrees of intellectual disability, typically ranging from moderate to severe.
How CHAMP1 UK Helps
CHAMP1 UK is a registered charity dedicated to supporting the ~20 families in the UK, ,and ~260 families worldwide with CHAMP1 gene disorders.
We focus on:
Connecting Families: A rare diagnosis can feel isolating, but our goal is to ensure that no one ever walks this path alone. We connect over 250 families across 38 countries, creating a global support system. It is a tight-knit community where parents and caregivers share lived experiences, celebrate our children's unique milestones, and provide comfort and hope to newly diagnosed families.
Making Information Accessible: Because CHAMP1 was only first described in the medical literature in 2015, reliable information has historically been scarce. To change this, we work to collate vital data from families, clinicians, and researchers. We recently co-authored a comprehensive clinical information guide so that every family and their local medical teams have access to the highest standard of care and a clear understanding of our CHAMPs' needs.
Supporting Research: We are proud members of the CHAMP1 Research Alliance , working in close partnership with the CHAMP1 Research Foundation in the US and the CHAMP1 Research Foundation - Europe. Together, we are currently supporting over 15 active research initiatives, including projects to better understand the function of CHAMP1 and looking at drug repurposing, to accelerate the transition from data to treatments.
Building Awareness: As an ultra-rare and significantly underdiagnosed condition, we are on a mission to make CHAMP1 known globally so we can reach families who are still searching for answers. But more than that, we are here to give our CHAMP1ons a voice. Raising awareness means fiercely advocating for them and ensuring their thoughts, needs, and joyful personalities are seen, understood, and celebrated by the world.
We are so incredibly grateful for your support. Every donation, big or small, goes directly toward improving the quality of life for our CHAMPs and accelerating vital research. Thank you! 💜
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