The Silva-Puyos’ Journey with KDM3B

The responses below were originally written in Spanish and translated using a third party service.

What is your family like?

We are a Colombian Military family of 4, my husband’s name is Jaime José Silva, I am Jackeline Puyo, Samara Lorena Silva Puyo, 15 years old, and Hannah Isabel Silva Puyo, 12 years old, with Diets Jongmans syndrome (KDM3B-related syndrome).

Somos una familia Militar Colombiana de 4, mi esposo se llama Jaime José Silva, yo soy Jackeline Puyo, Samara Lorena Silva Puyo de 15 años y Hannah Isabel Silva Puyo de 12 años con el síndrome de Diets Jongmans KDM3B.

What do you do for fun?

We like to travel, see places in our country, go to the movies with the girls, and play in the park together.

Nos gusta viajar, conocer sitios de nuestro país, ir a cine con las niñas, jugar en el parque los 4.

Tell us about the biggest hardship you face.

Not being able to learn about Hannah’s syndrome, since there are no records of the disease in my country, and seeing that my daughter’s physical condition is becoming more affected every day, and not being able to provide her with the help she needs.

No poder tener conocimiento del síndrome de ni hija Hannah, ya que en mi país no hay registros de la enfermedad, y ver que cada día mi niña sale más afectada en su condición física y no poder brindarle la ayuda que necesita. 

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

Hoping to participate in this research with you and thus gain more knowledge about this genetic condition.

Esperando poder participar está está investigación con ustedes y así poder tener más conocimientos a cerca de esta condición genética.

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

I want to know in the future how this genetic syndrome can affect my daughter and be able to provide my daughter with a better quality of life.

Quiero saber a un futuro como este síndrome genético puede afectar a mi hija y poder brindarle una mejor calidad de vida a mi niña.

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

With my daughter, I’ve learned that nothing is impossible for God, and that thanks to Him, we’ve been able to move forward with Hannah despite not having any knowledge of the disease in a country where no medical center has information.

Con mi hija he podido aprender que nada es imposible para Dios, que gracias a El hemos podido seguir adelante con Hannah a pesar de no contar con el conocimiento de la enfermedad en un país donde ningún centro médico tiene información.

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

Don’t lose hope, there’s always a light at the end of the tunnel, and there are more families going through the same situation and they’ll never be alone. If we can ever meet and help each other, I’ll be happy to support them.

Que no pierdan la esperanza, que siempre hay una luz al final del túnel, y que habemos más familias pasando por la misma situación y que nunca van a estar solos y si nos podemos algún día encontrar y brindarnos ayuda mutua con mucho gusto estaré ahí para apoyarlos.

How has Simons Searchlight served as a resource for you and your family?

I am new to you at the moment and I hope to be able to participate in the study of Diets Jongmans (KDM3B-related syndrome).

Por el momento soy nueva con ustedes y espero poder participar en el estudio del síndrome Diets Jongmans KDM3B.