FAMILY STORY

The Aldanas’ Journey with KMT5B

Finding this community and others has helped us feel more connected, and has taught us so much about what could be related to the disorder.

Nichole Aldana, mother of Karson, a 7-year-old living with KMT5B-related syndrome

What is your family like?

We are a unique family! Karson – our beautiful 7 year old daughter was diagnosed with KMT5B two years ago! We have learned she gained that from her dad and she also has two other rare genetic disorders she gained from me ( mom) we spend every day enjoying our sweet girl.

What do you do for fun?

Karsons favorite things are things that help keep her regulated – such as watching her favorite videos on her tablet – running around the house and car rides!

Tell us about the biggest hardship you face.

For us just figuring out what the right things for Karson are – such as therapies- education and every day activities.

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

We really haven’t been approached for any research studies but would participate.

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

I guess for us we deal with extreme overgrowth so concerns about her size and how to better prevent any future issues.

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

Finding this community and others has helped us feel more connected, and has taught us so much about what could be related to the disorder.

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

Research research and advocate!

How has Simons Searchlight served as a resource for you and your family?

It has helped us find similarities in Karson’s being that we can help apply to her IEP at school and be able to advocate more for her.