By: Laura, Parent of Christian, a 3 year old with a KMT5B genetic change
“And he is so worth it all! Never give up! Do all the therapy you need. Love your little one as they are!”
What is your child’s relationship like with his/her siblings?
He loves most of them. They all would do anything for him. Our oldest had Asperger’s high functioning and isn’t a fan of kids or drool but she loves him from a distance. He is a little scared of her. But he loves on his other siblings a lot.
What does your family do for fun?
We go to the zoo, aquarium, swim, play.
Tell us about the biggest hardship your family faces.
We spend a lot of time keeping things safe for my youngest who is 3 and has KMT5B. He panics a lot and doesn’t like many people outside of our family. I spend a lot of time driving 2 hours to his specialist. That’s hard on us all.
What about your child puts a smile on your face?
Everything. He has no boundaries with me. He thinks we are one person. He climbs in my lap and sits nose to nose and smiles so big. I love seeing him learn new things…even for the 3rd time. I love seeing him play and be happy. I love when he feels good and gets to be just a kid.
What motivates you to participate in research?
We need more info. It’s been a lonely year knowing of the KMT5B and feeling so alone. I don’t want others to not know there are more of us out there. We can learn from each other.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
I’m not sure. I hope we can help others on this journey.
What have you learned about your child’s condition from other families?
I only met online 2 other families this past week after over a year of searching. One family has a daughter who doesn’t have nearly as many issues as my son but there are a lot of similar things. Another family has a lot more issues than my son. The thing we have in common is low muscle tone, developmental delays, and overgrowth.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Fight for your child. Don’t give up. Doctors, teachers, almost no one knows about this gene issue. You have to educate the educated. And fight to get them what they need.
What is one question you wish researchers could answer about your child’s genetic change?
What does the future hold? Will he live independently? Will he have a life outside of doctors and home?
Is there anything else you would like to share with other families?
My son is 3. He has KMT5B gene mutation, hydrocephalus, low muscle tone, low vision, strabismus, global delays, epilepsy, absent seizures, reactive airway disease, and other issues as well as anxiety. He is more like a 1.5 year old but recently seems to be progressing to 2. He is so smart! So lovable! He’s the most amazing person I’ve met! I wish the world would understand what he goes through more. It’s a journey. He’s only 3 but been through so much. And he is so worth it all! Never give up! Do all the therapy you need. Love your little one as they are!