By: Debbie, Parent of Anthony, a 14 year old with an ANKRD11 genetic change
“I hope we can make more awareness to this condition and find help/cure. I look forward to being a part of this group and sharing/learning all I can.”
What is your child’s relationship like with his/her siblings?
His siblings love him but he has a tendency to pick on the middle child which causes arguments between them.
What does your family do for fun?
Lots of family outings. This summer they went to Disneyland for the first time and loved it. Halloween fest, aquarium, festivals Dave and buster’s, parks and lots of other family adventures
Tell us about the biggest hardship your family faces.
Knowing how to get him through his melt downs. Helping him learn and interact well with others
What about your child puts a smile on your face?
Seeing him happy
What motivates you to participate in research?
Being able to understand him better and help him.
What have you learned about your child’s condition from other families?
We just got the diagnosis but hope to get more insight on this condition by hearing other families story and their knowledge of this condition.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
I find when I am kind and soft spoken to him during his meltdowns it seems to calm him down. Not always right away but eventually
What is one question you wish researchers could answer about your child’s genetic change?
How do I find the best doctors to treat him. How can I help him and work with him. How can I advise others who don’t understand his behavior . How do I know if the medications doctors prescribe for him will help him.
Is there anything else you would like to share with other families?
When Anthony was first born we received a letter from the hospital starting he failed his hearing test. He eventually had 3 sets of tubes put in before a PA noticed something not right with his ear and sent us to an ENT specialist. We were the referred to Dr. Choo at Cincinnati children’s hospital who informed us 3 bones were not connected to the cochlear and they would have to do surgery. The first did not go so well and he just had the second one not long ago and we are waiting for the packing to desolve to see if he can hear. We will keep you posted. His testicles did not drop at birth and had to be surgically treated. He has a speech impediment and goes through speech therapy at school. We noticed his brother who is three years younger than him could open doors before he could. Anthony did not have the strength. At age 11 is they did a bone scan on him. His bones were the size of a seven year old.we went through genetic testing and they ruled out DiGeorge Syndrome, X Syndrome and Asperger’s Syndrome. We were running out of hope. Last year, August 21, 2017 at age 13 he had a grand mal seizure. His neurologist had more genetic testing done and that is when we got the news he has KBG Syndrome. I hope we can make more awareness to this condition and find help/cure. I look forward to being a part of this group and sharing/learning all I can.