The Higleys’ Journey with SETBP1-related syndrome

What is your family like?

We are a family made up of neurodivergency. We all have our own challenges, weaknesses and strengths. I have ADHD and Autism. My husband has ADHD. Ian’s one older sister was recently diagnosed as autistic. We are very loving ; we are kind ; we stick together. We just do the best we can in life.

What do you do for fun?

For fun, we love to get outdoors. Ride bikes, hike, walk, play at the playground, etc. We also enjoy playing video games together, too. Their favorite family game is Stardew valley currently.

Tell us about the biggest hardship you face.

That’s a tough one. Overall, I’d say that the biggest hardship we face is that most people don’t understand the extent of which SETBP1 can affect a person. I think a lot of it is because it’s rare so there’s not a lot of research out on it yet and there’s not large public knowledge about the disorder.

I find that to be very difficult because children with this difference can have a wide range of symptoms related to their gene difference/deletion. I feel that most people try to be understanding but I often have people not believe me when I try to explain all the ways that my son is impacted by his difference. They just see a happy child who interacts pretty well with his peers despite his severe apraxia of speech and think that is the extent of which his difference impacts him. I’m constantly having to remind people (Family members and school staff) that Ian is impacted in different ways – more than just his speech is affected. I have to do this so that they can support Ian in in the ways that Ian needs and not expect something that is impossible for him currently but instead they can support him to work on those areas.

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

I’m motivated to participate in research because prior to my son’s diagnosis, I had no idea that there were so many rare genetic differences. I really do want to help the scientific community, families, medical staff researchers, etc. Ian and I really want to help others understand how his difference impacts him and draw connections to other people with his difference to better understand SETBP1 as a whole.

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

I feel like every person’s experience with SETBP1 is important to document and rare genetic changes in general are important to learn about. By participating in research, we may help researchers to better understand how different variants of the deletion presents and what areas of their person may be impacted by each individual difference. Additionally, it may help researchers draw connections to other rare genetic deletions to further their research with those rare genetic changes, too. More research and understanding is good.

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

Having seen the other families story on here, I guess I would have to echo their question. I do wonder why my son has some core things in common with other children who have SETBP1, but also seems to have his own differences that are not accounted for genetically. As in, he has no other reason genetically or otherwise to have the issues that he does have. which leads me to believe that his differences are largely attributed to his diagnosis of SETBP1. I know that research is being done to look into this and that different variations maybe have different areas impacted to some degree. I just hope that one day we can understand more or less how each different variant of the gene deletion impacts people who are affected. In the case of my son, He shares facial features, severe apraxia of speech, hypotonia, traits of Autism and ADHD , etc. He doesn’t have seizures (as of currently). And, he doesn’t feel his bowels or bladder. It’s more than just a cognitive delay causing such for him. He is pretty smart.

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

 I’ve learned that there are key similarities between most, if not all of those who have this gene deletion. However, there also seems to be a wide range of other symptoms or differences that are attributed to the gene deletion they all share.

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

I would say to let yourself feel all the feelings you have and then take a deep breath. When my son was diagnosed after years of wondering why he struggled the ways that he did, I felt like the world was over. I was reading the symptoms list and thinking about all the challenges he would face.

It took a while for me to take some deep breaths and realize that having a diagnosis was going to help us make the best life possible for him. Diagnosis isn’t the end – it’s the beginning. It’s important to remember that those born with this difference have always been different. Having a name and an answer just helps us get the support we need, have a community of others for support, and to know better what to expect overall. Just remember there is a wide range of symptoms and having SETBP1 and most (if not all) of those with this rare gene deletion live happy, fulfilling lives. Expect the best. Be optimistic.

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

I feel like Simons Searchlight has been a resource for myself and my family in particular because having articles and reports to show/share with family members who still don’t properly understand how Ian’s difference impacts him is helpful for me. Seeing it in black and white from a reputable source is important for a lot of people.