What is your family like?

We have a daughter with HECW2 mutation. She is 14 years old and we recently found out. She’s been tested for many things throughout her lifetime. We live at home, just her dad and I. Her big brother also lives at home, he’s 19 and helps as much as he can but he’s moving soon.

What do you do for fun?

We like to watch movies as a family and go shopping.

Tell us about the biggest hardship you face.

We don’t have a lot of family or community support in our area.

What motivates you to participate in research? 

Getting a diagnosis finally for her makes her symptoms more explainable and helps give some answers to things we didn’t have before. It’s hard to watch your child suffer from something and not have any reason as to why. Participating in research helps to find answers even in the future.

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

Even if it can’t help my child now I know the researchers will continue to work to find treatments to help with future issues or even medications that can help her.

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

If there is medication or some treatment they can do to fix this change for her.

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

Nothing yet.

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

Be patient, take a deep breath.