Reese’s Story

By: Brenna, parent of Reese who has a ZNF292 genetic variant

“Do not despair. We are a proven case that much can be accomplished and attained while having this genetic mutation.”

What is your family like?

My husband is in his 40s and recently discovered he has the ZNF292 gene mutation. From a small child in the early 80’s he was diagnosed with cerebral palsy and never quite fit the bill of that diagnosis. After marriage and having our first daughter we noticed changes. She was diagnosed with autism and sensory processing issues and well as being developmentally delayed with extreme low muscle tone. We had our second daughter with extreme low muscle tone and most of the same diagnoses as her older sister. It wasn’t until my son was born and he had the same diagnoses along with a diagnosis of epilepsy that we began to wonder. We moved to another state that genetic testing was done and that they found the gene mutation. We were lucky that they decided to swab the entire family and find the overall diagnosis. We have plenty of accommodations in our daily life. The one thing they do have is just the best attitudes and personalities. They have huge hearts and just love every person that comes across their path.

What do you do for fun?

We try not to limit ourselves in what we do as a family. Everyone with the mutation is considered more mild and can walk, albeit slower and their stamina is not as strong as everyone else. We love to play games and pretty normal things. The sensory issues make everyone very nervous about doing things like climbing playgrounds or new situations so we talk a lot about things we’re going to do before we do them.

Tell us about the biggest hardship you face.

The current biggest hardship is the need for so much therapy. It really hinders the ability to keep full time jobs. It also effects my husband because he is not severe enough to receive full disability but it is apparent that he cannot keep up in jobs and that’s been a life long struggle. It’s against the ADA to fire someone for a disability but at will states make it hard to keep a job because they don’t have to tell you why you’re being fired.

What motivates you to participate in research? How has participating research been helpful for you?

It’s such a new discovery that we want to give as much information as possible so others can learn about what to expect. I have not found anyone with ZNF292 older than my husband. As far as I know, he’s the oldest (that’s been found) that has it.

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

I feel we are helping by providing our information and life experiences. Our medical experience can help others learn about what to expect with a child/family member with this diagnosis.

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

Will it be easier to diagnose in the future? What is the percent chance does a future child have of receiving this mutation from a parent?

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

We are a mild case family and there is such a broad field of severity in regards to the mutation.

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

Do not despair. We are a proven case that much can be accomplished and attained while having this genetic mutation.