Marko’s Story Living with CTNNB1

What is your family like?

My name is Marko and I am 8 years old. My dad is Juan and my mom is Adriana. We live in the city of Hermosillo, in the state of Sonora, Mexico. As a family, we like to go for a walk in the park, eat ice cream and meet with our relatives. We respect and support each other. Thanks to that, I’m getting ahead in my therapies.

What do you do for fun?

I like to laugh a lot. In fact, I enjoy recording videos on my cell phone while laughing out loud. I also really like playing with stuffed animals, watching YouTube videos and drawing.

Tell us about the biggest hardship you face.

I am blind in my left eye and I wear glasses for my right, because I have astigmatism, but the main medical attention I have had has been to improve my motor skills. I have not yet achieved independent walking, but I am in the process of achieving it, with the help of my therapists and my parents. In addition, since I have been diagnosed with Asperger Syndrome, I take social skills therapy, a subject in which I have improved a lot, to the point that I get along better with my schoolmates and my teachers.

What motivates you to participate in research? 

In my family, we have been interested in participating in research on CTNNB1 syndrome, because we believe in science. We think that the more people participate, the better knowledge there will be about genetic disorders and there will also be more opportunities to achieve medical treatments.

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

By providing information about how my son lives with CTNNB1 Syndrome, we help researchers to compare data from other children: identify what characteristics are shared and what medical follow-up should be followed.

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

I trust that soon the researchers will be able to have a medicine that allows me to have a better quality of life.

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

In my family, we have learned that by teaming up with medical and therapeutic personnel, it is possible to achieve important advances. That implies being constant and not giving up, even if sometimes it is very tiring to follow the agenda.

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

It is important not to be left only with a medical opinion. Even if a doctor does not show empathy, it is necessary to change personnel. In my family, we have decided to choose those who have the humility to admit that they do not know about CTNNB1 Syndrome and that they are interested in learning and being informed.