Donation

For Noelia

When Noelia was born in 2005 as the family's second child, she seemed a little small but healthy. Just a few months later, her slow development became apparent and shortly after her first birthday, the family received a diagnosis of cerebral palsy of unknown cause. It was not until the summer of 2022 that a genetic test provided the explanation for Noelia's impairment: it was the rare CTNNB1 syndrome. This random genetic defect affects physical, mental and linguistic development. It is estimated that 1 in 50,000 children worldwide are affected and there is currently no gene therapy or medication available, making therapeutic treatment all the more important.

CTNNB1 syndrome is caused by either a deletion, partial deletion or mutation of the CTNNB1 gene. Depending on the degree of alteration or mutation, there is a wide range of abilities that are affected. The following symptoms relate to Noelia:

SYMPTOMS
- Impaired sense of balance
- Spasticity in the legs
- cognitive impairment
- Speech problems
- conspicuous attachment to certain people and objects

We hope that Noelia will always remain so cheerful and positive. Her quality of life is closely linked to her independence and she would like to need help as little as possible. In order to maintain the strength for transfers and perhaps one day be able to take a few steps on a rollator again, the 2-week intensive therapy helps as a supplement to the everyday therapies. The aim is to travel to Slovakia once a year.

Thank you from the bottom of our hearts for the donation!