TJ’s Story Living with SETD5

What is your family like?

We have a large family; 7 to be exact. Dad is retired military; Mom is a nurse. Life is busy with appointments and family activities but we love it.

What do you do for fun?

We like to camp and enjoy the outdoors.

Tell us about the biggest hardship you face.

The unknowns and the shoulder shrugs. The blank stares of professionals looking at you like you fell out of the sky.

What motivates you to participate in research? 

Research is the only way we will find more answers. We can’t get more information if we aren’t willing to participate in knowledge sharing.

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

We are participating and sharing information as we learn together.

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

Why does everyone focus on the intellectual disability and not the complications of the disease that could be impacting the intellectual disability rates? (i.e. seizures, cardiac defects, sleep apnea, moyamoya, etc.

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

Seizures can be misdiagnosed or easily missed altogether until they are life-threatening, heart-related issues are missed often or disregarded because they should heal on their own in the normal population but often do not in this community. Children often have a very high pain tolerance and it may be difficult to determine if anything is wrong. Children learn at varying paces and patience is a must, and the condition is widely variable even amongst the same mutation in the same family.

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

Join research and take it one day at a time. Learn everything you can do you can educate those caring for you or your child.