The Schmidts’ Journey with KDM3B

Seeing other families facing similar challenges, it makes me feel less alone.

Madison Schmidt, mother of Tanner, her 3-year-old son with KDM3B-related syndrome

What is your family like?

We are a military family of four. Two boys, one of which has the gene difference KDM3B.

What do you do for fun?

We love to find fun things to do as a family. We enjoy going on hikes, visiting parks & museums, & exploring the areas we get stationed in together!

Tell us about the biggest hardship you face.

The biggest hardship is the unknown. Our son displays motor/verbal tics that flare when he is stressed with change. Being a military family, change happens a lot. Our son when he has his tics, it’s hard to get his attention to talk to him and he can easily get hurt from his tics. We just worry about the unknown of when the tics will continue, what’s going on in his mind, is he okay? We don’t have these answers and although he’s laughing when he’s ticking and talking about fun things/running around. We just want him to be happy. His tics didn’t appear until he was two years old & they have at times completely disappeared.

What motivates you to participate in research? 

If my participation helps another family avoid the “unknown” in the future that means I’ve done my part. Participating has helped us by seeing when the KDM3B gene page is updated with more information.

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

I believe by providing his gene reports and medical history that I help give them one portion of what this gene could look like for another family.

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

What the future would look like for our son. We found out when he was two that he had this gene. As he has gotten older, sometimes people notice he is different. He has an IEP and he’s previously done speech and occupational therapy. We will be doing an overnight sleep study. I would like to know what is he going to face for his life? Will medical procedures like CRISPR be available to this gene later? Is this something IVF could help him with having his own family?

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

Our son’s speech delay and behavioral issues are directly impacted by this change. Seeing other families facing similar challenges, it makes me feel less alone.

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

Having this change, doesn’t make you weird or abnormal. It’s scary and hard to find out this information, but luckily there are resources available.

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