Our Vision:
To ensure no family faces ACTA2 alone. Sharing real experiences, building a compassionate community, and turning personal journeys into greater awareness, understanding, and hope for the future.
At just two weeks old, Lily was diagnosed with a heart murmur and we were reassured it was probably nothing.
By four months old, she was undergoing life-saving open-heart surgery to close a PDA (patent ductus arteriosus). Lily was also born with permanently dilated pupils, which as first time parents, we had wrongly assumed this would change as she developed.
Using Chat GPT, whilst waiting for Lily to recover from surgery in Intensive Care, we used these symptoms to diagnose our Daughter with an ultra-rare genetic condition MULTI-SYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (caused by ACTA2 gene mutations, often P.arg179his).
Despite initial reassurance from multiple healthcare professionals who had never even heard of the condition or believed Lily was unlikely to have it, genetic testing ultimately confirmed our worst fears.
Lily's Story
There is currently no cure for MSMDS.
This condition affects smooth muscle throughout the body, often leading to complex, multi-organ complications. In severe cases, children face a high risk of early childhood strokes and serious vascular issues. While promising progress is being made toward gene therapy,, urgent funding and awareness are needed to move this research forward. ACTA2 Alliance UK has been set up to support this work, which is approaching its first human clinical trial. That could benefit several other life-limiting vascular conditions.
You are twice as likely to be struck by lightening, than to receive a diagnosis of MSMDS.
£18,000
It costs £18,000 to do something really important which is why we need big money etc etc...
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£18,000
It costs £18,000 to do something really important which is why we need big money etc etc...
jsflaksdfjhragiohncaievhn;ei
akjeygcbakjyfgk
abckuyefgkuygbfkuyefbgk
£18,000
It costs £18,000 to do something really important which is why we need big money etc etc...
jsflaksdfjhragiohncaievhn;ei
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