Understanding CTNNB1 syndrome
Explore the complexities of CTNNB1 syndrome and learn how it impacts Harper's life and the hopes for her future.
What is CTNNB1 syndrome?
CTNNB1 syndrome is a complex genetic condition caused by a mutation in the CTNNB1 gene. This mutation can affect various aspects of an individual's life, including mobility, speech, cognition, learning ability, and emotional regulation. It can also impact essential body functions such as digestion and swallowing. Common medical conditions associated with CTNNB1 syndrome include tethered cord, FEVR (Familial Exudative Vitreoretinopathy), and heart problems. It's important to remember that the syndrome presents differently in each person, making each journey unique.
Harper's journey and our hope
Imagine a child who yearns to do more and be more, but whose body holds her back. This is Harper's reality with CTNNB1 syndrome. We hope that by understanding this condition, you will feel the profound empathy we do for a child trapped within her own body, yet full of potential. When faced with a seemingly life-altering health condition, and then offered a beacon of hope, any parent would move mountains to help their child. This is our driving force.
The path to a brighter future
Our greatest hope is for Harper to reach her fullest potential, unconstrained by the limitations of CTNNB1 syndrome. The gene replacement therapy offers Harper her best chance at living a fulfilled and comfortable life. To know there's an option to help her and not pursue it would be unthinkable. Harper's participation in this trial is not just for her; she will be opening doors and paving the road for other children diagnosed with CTNNB1 syndrome. Her journey will also help doctors develop the gold standard for the care of these children. For more information, please visit the ctnnb1-foundation and ctnnb1 connect and cure websites.
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