<div>My husband Peter and I fell in love at 17. We were married at 23 and a year later we were overjoyed when we learned we were going to become parents.
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<div>On December 8th, 2020, our little boy Teddy, entered the world. However, it didn't take long for us to notice that something wasn't quite right. Teddy’s eyes would frequently cross, leading us to consult an ophthalmologist. He was prescribed glasses, and I can remember feeling totally overwhelmed by the thought of my tiny baby having to wear glasses for the rest of his life.
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<div>A few weeks passed and our concerns grew. By the time Teddy was four months old, his head control remained weak, and we sought the guidance of a paediatrician. She shared our concerns and recommended further testing to determine the root cause of his developmental delay. What followed was a series of medical procedures, from blood tests to an MRI, that our little boy endured so bravely.
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<div>Then came that fateful day, the weekend of my first Mother's Day. The call from the paediatrician summoned Peter and I to her office urgently, and our hearts sank as we anticipated the news. That day we learned that Teddy had a substantial deletion of genetic material on Chromosome 3. Among the missing genes, one stood out, the CTNNB1 gene.
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<div><strong>CTNNB1 syndrome is a rare and non-inherited genetic neurological disorder that begins to manifest in early infancy as missed milestones and developmental delays. It can lead to severe impairments, affecting nearly every aspect of life, from the ability to speak and walk to eating and social engagement. </strong>
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<div>Since his diagnosis, Teddy has been attending regular physiotherapy, occupational therapy, and speech therapy. Unfortunately, despite this intensive intervention, Teddy continues to develop very slowly and it is unclear whether he will ever gain the ability to walk or talk.
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<div>Our desperation for a better life for Teddy led us online to seek the advice of other families like ours. In this search for a community we found another mother on the other side of the world in Slovenia who shared her son’s story with CTNNB1 syndrome... she was requesting donations for gene therapy research. You can imagine my surprise when I learned that the research was being conducted just 10 minutes from home at <a href="https://www.cmrijeansforgenes.org.au/" target="_blank" rel="noreferrer noopener">Children’s Medical Research Institute</a> here in Sydney.
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<div>As of November 2024 there is a gene replacement therapy in production for CTNNB1 syndrome thanks to the incredible efforts of the team at CMRI and the <a href="https://ctnnb1-foundation.org/" target="_blank" rel="noreferrer noopener">CTNNB1 Foundation</a> . The gene therapy has been tested in animal models and in human cells so we eagerly await the next phase which will be a clinical trial in human patients.
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<div><strong>If Teddy is selected as a suitable candidate for the clinical trial we hope to use the funds raised through this page to help us with the significant financial costs associated with participating in the trial (e.g. hospital fees, physical and speech therapy etc.)</strong>
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<div>Thank you for your consideration. Our family are forever grateful for the love and support shown to us and to Teddy through this journey so far. With your help we are confident that we can change his world for the better and give him the life he deserves!
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John & Sal Manderson

Muñoz Family Muñoz

Anonymous

Maria Cummins

David Sutton Foxton

Joshua Jenkins

Sally Dunkerley

Chingi Dunkerley

May L

Anne Houghton

Cameron Glynn

Nicholas Murray

Lauren Grobler

Audrey Tokatlian

Ashley Foskett

Roula Dunkerley

MacDougall Family

Tan Lorraine

Gene Replacement Therapy for CTNNB1 Syndrome

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Gene Replacement Therapy for CTNNB1 Syndrome

Still $36,630 to go. Help us build momentum.