Yan’s Story

By: Camila, Parent of Yan, a 6 year old with a GRIN2B genetic change

“Never fail to believe in your child’s potential, encourage him, tell him that he can, and get everything, make that statement a motto in your home.”

What is your child’s relationship like with his/her siblings?

Yan has no siblings, but he loves to play with his cousins, especially when his cousins make fun of him.

What does your family do for fun?

Our favorite diversion is to go for a walk in the lake and also in the mall.

Tell us about the biggest hardship your family faces.

Accessibility, Yan is 6 years old and does not walk so it is difficult to walk with the cart around the cities due to lack of planning. And school, it’s been a difficult year now that Yan has left the day care center, even though the school has accepted him, it’s visible the lack of preparation of the school to give him with Yan or another child with special needs.

What about your child puts a smile on your face?

Yan is very laughing, if I am his mother, I make jokes, I shout, he soon smiles. And having contact with the water, such as swimming pool, bathtub, also makes him smile enough.

What motivates you to participate in research?

The interest to know. Knowledge, which can help not only my child but also other children.

How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?

I see great strides and certainly every study and discussion of the research brings a great understanding to us parents, what is happening with our children.

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

That some actually take too long to develop such things as talking and walking, but it made me hope that my son will get there.

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

Rest assured, seek knowledge, seek to understand your child’s thinking, because yes they think a lot. Look for the appropriate therapies to stimulate the development of your child and above all give love, much love, unconditional love! And patience is the key word to give you with your child.

What is one question you wish researchers could answer about your child’s genetic change?

My son who has a mutation in the GRIN2B gene, has the cognitive very late, being totally dependent on someone to help him, are the researches are moving towards something that can be done to improve that?

Is there anything else you would like to share with other families?

Never fail to believe in your child’s potential, encourage him, tell him that he can, and get everything, make that statement a motto in your home. And I repeat love, play with your child, roll, do somersaults, dance, have fun, be happy.