MED13L Story #1

By: Diana, Parent of an 11 year old with a MED13L genetic change

“Stay hopeful! You never know what the future holds. Not everyone fits in that nice neat little box!”

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

They are not able to play together because they do not enjoy the same things and our son cannot communicate well enough to describe what he wants to do. They will play tag together. They love each other and miss each other when one is not around. they do have normal fights between siblings. (e.g. fighting over the tv).

What does your family do for fun?

We like anything outdoors. We like watching movies together and eating ice cream. We love hiking.

Tell us about the biggest hardship your family faces.

We really struggle with Noah’s behaviors. They create disruptions each day. He is especially needy with everything from feeding, to dressing, to do anything by himself. he cannot handle being by himself for any 30 seconds. If i go to the potty he has to follow me. This leaves us with little time to breathe and relax. He yells a lot and this creates a lot of frustration in the home.

What about your child puts a smile on your face?

When he smiles I smile. When he laughs I melt. He makes me so happy. When he gets excited about something I smile.

What motivates you to participate in research?

To help other families know what to expect. How they can help their child. To stay hopeful! I would also like to know the oldest living person with this complication this might help us know what we can look forward to.

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)?

We are offering you one very small piece to this complex puzzle

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

I haven’t learned much yet because I have not figured out how to read about other peoples stories.

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

Stay hopeful! You never know what the future holds. Not everyone fits in that nice neat little box!

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

Will Noah live a long life or will he die early from complications related to heart or kidney problems? You can’t answer this question, I know. But it is a wish.

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

The field of genomics is ever advancing and I am not sure we will ever have all the answers but with more families participating and sharing their stories we will be able to have a brighter future helping our children.