Donation
For Sophia

Intensive therapy for Sophia: more independence and quality of life

Sophia is very active and can't sit still for a minute. She has a Developmental delay, cannot walk freely "yet" and does not speak either speak. "However, she is the warmest, happiest and most patient child I know i know. You should hear her laugh...", enthuses her mother. Sophia's parents are convinced that Sophia will make great progress in the long term with intensive Progress in the long term and that her development will be optimally supported. They hope that there will be fewer falls in everyday life and that they will be able to leave their daughter unattended unattended.

Sophia's life

Sophia's Sophia's start in life was "normal". For the first 9 months, she was a perfectly healthy child Was a happy baby, fed well and gained weight and height. With age, however, it became apparent that she was not developing in line with her age. "Sophia is our first child and we thought she was just a little slower," Andrea recalls. What followed were countless Tests and an MRI of her head at the age of 18 months. What could be seen on it was a shock to the parents of three. Sophia's brain is not properly developed, which means that she has severe disabilities disabilities. "Suddenly we had a seriously ill child who would never be able to lead an independent Be able to lead an independent life. It took time to accept that," says Sophia's Mom. A Genetic test brought certainty: Sophia has a genetic defect, more precisely a mutation in the KIF1A gene.

Sophia's illness

Mutations in the KIF1A gene can lead to different symptoms and lead to different degrees of severity depending on where the variation is found on the gene. The treatment options are correspondingly diverse. The following symptoms relate to Sophia.

SYMPTOMS
- Global developmental delay
- Short stature
- Trunk hypotomy and muscular hypertonia Hypertonus of the extremities
- Morphological abnormalities

Sophia's family thanks you for your donation

We very much hope that our daughter will become more independent, better able to and make progress in her motor skills. We realize that she is now at a stage where she has an incredible amount of potential. She wants to Learning, is looking for challenges and is "ready" for the next steps. We want to use this Potential and provide her with intensive therapy as quickly as possible. The Adeli therapy center in Slovakia was recommended to us by other affected families Their experiences are consistently positive and make us optimistic optimistic.

On behalf of Sophia On behalf of Sophia, we would like to thank you for your donation!

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Support association for children with rare diseases
Around 350,000 children and young people in Switzerland are affected by a rare disease.

Everyday life for these families is characterized by uncertainty, especially when there is no diagnosis yet. The Support Association for Children with Rare Diseases has been committed to helping affected children and their families since 2014. We provide direct financial support, create free family events (more than 2,200 family members were able to take part in 2019) to connect affected families and raise awareness of rare diseases among the general public. We rely on donations, legacies and patronage contributions to make this possible in the future.

Link KMSK donation flyer