Josefina’s Story

By: Veronica , Parent of Josefina, a 5 year old with a WDFY3 genetic change

“Que se sume a esta investigación y aporte todos los datos relacionados a su evolución y aquellos que considere significativos–que relice las terapias necesarias, es importante realizar los tratamientos de fono, psicologia, kinesiología, terapia de integración sensorial.”

What is your family like?

Somos cuatro integrantes. Mamá, papá, luz de diez años y Josefina de cinco años.

There are four of us; Mom, dad, 10-year-old and 5-year-old Josefina.

What do you do for fun?

Nos gusta ir a la plaza y tomar helados.

We like to go to the square and have ice cream.

Tell us about the biggest hardship you face.

A nivel social, nos enfrentamos a situaciones extresantes. A Jose no le gusta la gente. Ella puede socializar, pero es selectiva. Le incomoda que la miren. y si algo no es como pretende, o se confunde o no le sale desata una crisis y empieza con pataletas. corre, grita, se pega en las piernas. Además tiene una especie de adicción por el uso de las pantallas. La irritan situaciones como determinados ruidos, espeialmente si ya está irritada, necesita que se apague si hay musica o televisor.

On a social level, we face stressful situations. Jose doesn’t like people. she can socialize, but she is selective. she is uncomfortable being looked at. And if something is not as she intends, or is confused or does not come out, she unleashes a crisis and starts with tantrums. She runs, screams, hits her legs. She also has a kind of addiction for the use of screens. She is irritated by situations such as certain noises, especially if she is already irritated, she needs to turn it off if there is music or television.

What motivates you to participate in research? How has participating in research been helpful for you?

Conocer sobre el tema. Ver si hay otras familias transitando algo similar que podamos aportarnos experiencias.

To know more about this. To see if there are other families going through something similar and share experiences.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

Brinda información de este tema sobre el cual no había nada en internet.

(Simons Searchlight) provides information on (WDFY3) about which there was nothing on the internet.

What is one question you wish researchers could answer about this genetic change?

¿Es posible que puedan tener un vida socialmente activa y sin compromiso en su desempeño de calidad?

Is it possible that they can have a socially active life and without compromise in their quality (of life)?

What have you learned about your or your child’s genetic condition from other families?

Que las actitudes que tiene mi hija son consecuencia de ello. Que el tamaño de su cabeza tiene relación con ello.

That my daughter’s attitudes are a consequence of (the genetic variant). That the size of her head is related to it.

If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?

Que se sume a esta investigación y aporte todos los datos relacionados a su evolución y aquellos que considere significativos–que relice las terapias necesarias, es importante realizar los tratamientos de fono, psicologia, kinesiología, terapia de integración sensorial.

Join this research and provide all the data related to its evolution and those that it considers significant.- that you perform the necessary therapies, it is important to carry out the treatments of speech, psychology, kinesiology, sensory integration therapy.

English responses translated using Google.