FAMILY STORY

Bug’s ANKRD11 Story

“Having the families and hearing their stories, helps us look for things that he may have problems with and address them before they get too bad.”


By: Annette, parent of Glenn (Bug), a 19 year old with KBG Syndrome (ANKRD11)

What is your family like?

We are a happy group, filled with a lot of laughter, some tears, and a ton of love. All 6 of us bring something beautiful to the world. IMO.

What do you do for fun?

We talk to each other, cheer for each other, visit places that are meaningful to at least one of us, and plan our Halloween family costume months in advance. We take the family costume very seriously, even when it’s silly.

Tell us about the biggest hardship you face.

Making sure that all of us can attend the event we are going to. Wheelchair access isn’t always accessible.

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

We participate so that no one else goes through what we have gone through. It didn’t need to happen to him. We have found issues we didn’t know about and were able to correct them for him which greatly improved his quality of life.

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

Excited to help anyway we can!

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

Is it degenerative?

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

Because our boy is nonverbal we don’t always know when he has a problem until it’s catastrophic. Having the families and hearing their stories, helps us look for things that he may have problems with and address them before they get too bad.

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

Take time to adjust. Nothing has really changed and no one is to blame, you are the same person, your child is the same person, you just have a name to swear at on the bad days. Let yourself adjust.

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