FAMILY STORY

A Glimpse into Samuel’s Life Living with 15q11.2 BP1-BP2 Deletion

“Me motiva entender a mi hijo, entender su mundo, entender como ayudar en su desarrollo y el manejo de los inconvenientes que el 15q11.2 nos acompañara toda la vida.

I am motivated to understand my son, to understand his world, to understand how to help in his development and the management of the inconveniences that 15q11.2 will accompany us all our lives.”


By: Eduard, parent of Samuel, age 5, living with 15q11.2 BP1-BP2 Deletion

What is your family like?

My familia somos tres, Samuel nuestro hijo, Angela su madre y yo Eduard su padre.
Actualmente compartimos la vida de samy pese a estar separados amamos a nuestro hijo con 15q11.2

My family, we are three, Samuel our son, Angela his mother and me Eduard his father.
Currently, we share Samy’s life even though we are separated we love our son with 15q11.2.

What does your family do for fun?

Salimos a parques, vamos a disfrutar horas de piscina, bailar y ver dibujos en la Tv

We go out to parks and enjoy hours of swimming, dancing, and watching cartoons on TV.

Tell us about the biggest hardship your family faces.

Actualmente la frustración por no poder hablar con mi hijo, Samy tiene dificultad de desarrollo cognitivo, retrasó en el habla, inquietud motora, déficit de atención; sin embargo nuestra mayor dificultad es su frustración al no lograr hablar con nosotros y nuestra frustración por no poder entenderlo.

Currently the frustration of not being able to talk to my son, Samy has cognitive developmental difficulties, delayed speech, motor restlessness, attention deficit; however our biggest difficulty is his frustration at not being able to talk to us and our frustration at not being able to understand him.

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

Me motiva entender a mi hijo, entender su mundo, entender como ayudar en su desarrollo y el manejo de los inconvenientes que el 15q11.2 nos acompañara toda la vida.
Hasta ahora acabo de conocer el proyecto quisiera saber mas sobre el.

I am motivated to understand my son, to understand his world, to understand how to help in his development and the management of the inconveniences that 15q11.2 will accompany us all our lives.
So far I have just learned about the project and I would like to know more about it.

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

Compartiendo mi experiencia; samy tiene 5 años fue diagnosticado a los 3 años, y aun estamos aprendiendo, pesaba con error que estábamos solos pero ya estamos contactando mas familias para aprender e intercambiar experiencias.

Sharing my experience; Samy is 5 years old, he was diagnosed at 3 years old, and we are still learning, I was mistaken that we were alone but we are already contacting more families to learn and exchange experiences.

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

¿Cómo puedo ayudar al desarrollo de la habilidades y competencias en el control de inquietud motora, déficit de atención y desarrollo del habla y las capacidades comunicativas de mi hijo?

How can I help my child’s development of skills and competencies in the control of motor restlessness, attention deficit and speech development, and communication abilities?

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

Hasta ahora he aprendido que otras familias con hijos con este desorden genético comparten los mismos síntomas que mi hijo, pero aun me falta mucho mas por entender y aprender del 15q11.2

So far I have learned that other families with children with this genetic disorder share the same symptoms as my son, but I still have much more to understand and learn about 15q11.2

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

No desesperar, aceptarlo, llorar, gritar, amar a su hijo, abrazarlo fuertemente y no esperar tanto como en mi caso para buscar ayuda en organizaciones diferentes a lo servicios de salud del país en que viven con su hijo 15q11.2

Do not despair, accept it, cry, scream, love your child, hug him/her tightly and do not wait as long as in my case to seek help from organizations other than the health services in the country where you live with your 15q11.2 child.

Follow Our Progress

Sign up for the Simons Searchlight newsletter.