KMT5B Story #2

By: Parent of a 3 year old with a KMT5B genetic change

“Do not give up. Take all the necessary treatments. Get help from those who can. The earlier you start treating, the better you see change. Give him all the tools.”

What is your family like?

Happy, loving.

What do you do for fun?

Going to the sea, traveling to the extended family, hiking.

Tell us about the biggest hardship you face.

When we were told that our son had a medical problem.

What impacts your decision to participate or not to participate in research?

Get more information about the garden so I can help my son more and bring him to his maximum.

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

Will my son grow up to be independent? Will he catch up?

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

We were told it was a rare (condition) so I did not get to talk to other families.

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

Do not give up. Take all the necessary treatments. Get help from those who can. The earlier you start treating, the better you see change. Give him all the tools.