The Neals’ Journey with KDM6B

What is your family like?

We have a large, blended family. My husband and I each brought children to the table when we got married. Together we have a total of 6.
Our son, Davie, is the only child we have biologically together; and he is the one with KDM6B.

What do you do for fun?

We love to go on adventures. Camping and fishing are some of our favorite activities. Davie loves hanging out in the camper and going exploring in his wagon.

Tell us about the biggest hardship you face.

People not understanding Davie. He has two genetic mutations which seem to make some of his conditions slightly worse since they overlap. He has grown so much and is doing so great, but people assume he is *only* autistic when we have feeding challenges, immune related challenges, allergy and GI issues, etc. We are so close to walking. We are also working on using a talker for better communication. Davie goes to Physical, Occupational and Speech therapy. I stay home with him to accommodate him as best as possible.

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

What to expect in the future. I realize that is not possible without data and other individuals being diagnosed. With Davie having two mutations, it makes it very hard to figure out which box to put him in.

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

Social media is a valuable tool! Because there is not a lot of information available on KDM6B, we tend to gravitate towards communities or groups that have specific attributes such as hypotonia, GI issues, etc. Focusing on what needs to be helped or addressed is easier than going too broad at times.

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 going to be ok! Your child is a gift. Davie is different, but he has brought us joy and humbled us in a way that can’t be described. Go with your gut. There are a lot of doctors and specialists who don’t understand your child, and that’s ok. Find the ones who want to learn and grow with you. We have been blessed with some amazing therapists and doctors along the way. We are all learning every day.

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

We found the Facebook page when our son was diagnosed. Over the years it has grown, and it is nice to hear stories about others with the same mutation. We found out today that KDM6B has an official name. We wouldn’t have known without following the Simon Searchlight page.