Asher’s Story Living with CUL3

Facing uncertainty can be challenging, but remember to take it one day at a time. Don't hesitate to reach out and connect with others who can provide support.

Amanda, parent of Asher, an 8-year-old with CUL3

What is your family like?

We are a small family of three (and a cat named Bisoux) living in Canada.

Asher is a tremendously sweet and very happy kid who loves to tell jokes and make people laugh. He will gladly tell any willing listener all about adventures in Minecraft and Pokémon. He enjoys spending time at home with mom and dad. He also likes eating all the chocolate he can get his hands on.

What do you do for fun?

We love to watch movies, play board games and Nintendo games (especially Mario Kart!), and have dance parties. We also enjoy going to our local museums, festivals, and parks.

Tell us about the biggest hardship you face.

Having such a rare genetic neurodevelopmental disorder, it took us 8 years to get an accurate diagnosis. That was our first biggest hardship. Now that we know his condition, our biggest hardship has been ensuring Asher has timely access to resources and support that will help him flourish and live his best life.

Given the many unknowns of how CUL3-related neurodevelopmental disorder will continue to affect his life as he gets older, it can be hard to know which medical and developmental therapies, services, and programming will serve his needs best. This has meant much self-directed research, advocacy, and planning.

We would like to see increased awareness and knowledge of rare genetic disorders among healthcare providers, and we would also like to see increased accessibility and affordability of developmental disability services in the community.

What motivates you to participate in research? 

As a family of social scientists, we love research! We value it and enjoy participating in it.

We are constantly learning and searching for new information that could help us improve Asher’s quality of life. It is our hope that our research participation will not only help Asher one day, but also other children in the future who are diagnosed with CUL3-related neurodevelopmental disorder.

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

The data that we and other families provide for Simons Searchlight patient registries is important to help build a foundation of knowledge for rare disorders like Asher’s. We hope this data can be shared with researchers and healthcare providers to help better understand genetic conditions and promote quality of life.

Being a part of their program has also allowed us to connect with other families that have the same genetic condition as Asher. Not only has this been an invaluable experience that has provided us with a personal sense of community, but it has helped bring families together to help raise awareness of and advocate for CUL3-related neurodevelopmental disorder.

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

We would like to know whether a drug or gene therapy treatment may one day be possible.

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

By connecting with other CUL3 families, we have learned that we are not alone in this journey, and that his rare disease diagnosis does not define his potential.

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

Facing uncertainty can be challenging, but remember to take it one day at a time. Don’t hesitate to reach out and connect with others who can provide support

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