Emery’s Story

By: the parent of Emery, a 3 year old with a MED13L genetic change

“Don’t be discouraged, encourage and provide all the support possible to ensure your child can be the best he/she can possibly be!”

What does your family do for fun?

Go to the cottage, boating, park, zoo, fish store, swim

Tell us about the biggest hardship your family faces.

Language delays

What about your child puts a smile on your face?

He is determined. He is a happy, funny and a fun loving boy.

What motivates you to participate in research?

Want to learn and understand more about MED13L – long term and shirt term, how every child has a varying degree of the disorder and overall long term outlook

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)?

Providing more input to the research of children with MED13L as our son has been diagnosed with it.

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

Similar behavior issues, speech impairments, feeding issues

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 be discouraged, encourage and provide all the support possible to ensure your child can be the best he/she can possibly be!

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

Will he ever be able to speak/have full speech? Can science correct the deletion?