The Oakleys’ Journey with ANK3-related syndrome

What is your family like?

Hi, my name is Kim. Im the mother of an adult child with autism and epilepsy. We have 4 children and 5 grandchildren. My hubby is a retired Fire Chief. I’m a subsitute teacher for bilingual and special educad students. We are strong advocates for people with profound autism and epilepsy.

What do you do for fun?

I am obsessed with autism and epilepsy research, especially anything to do with ANK3.

Tell us about the biggest hardship you face.

Knowing that my son and I both carry the same ANK3 variaint, yet he is severely-autistic and suffers from seizures. I’m only diagnosed with ADHD and have no other issues. I’ve completed a Master’s degree. This makes me very sad, thinking he’s held captive to a faulty allele that if enhanced, he could lead a more productive life. Seeing him suffer and not one drug ever fully stopping these terrible seizures is torture for all involved. ASO therapy could be his only hope.

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

I want to help my son and I know our case is of high value to basic and translational [research] and could truly influence how therapies are developed for rare, variable disorders. My son and I have an ANK3 splice site mutation, but our outcomes are radically different. Studying our case can not only help the ASD community, but could add to ADHD and other research. Our family shows intergenerational variability and may involve modifier genes, female protective effect, environmental (high stress pregnancy), and epigenetics (his gene is silenced for some reason). Galatamine and Lithium orotate increased his focus.

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

By giving them access to genetic data that they need to further research, especially given our son, as severe as he is, has shown moments of rare clarity than he drifts back into his zone so I know there’s something going on and there is potential to modify his severity. He doesn’t get worse. He is trapped in his brain and body by a LoF or silenced allele. Its maddening.

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

How to you apply pharmacogenomics to ANK3 because our son has specific reactions that I think are related to the ANK3 variant. Also, why is mother not severely affected yet carries the same variant? How does that apply to both ADHD and ASD since mother has ADHD, but has completed a Master’s degree. This is a huge difference between my son and I and it’s heartbreaking.

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

Nothing, we are an anomoloy. Doctors have been baffled by my son for years. It’s absolute mental and intellectual torture to see how little anyone has ever known to help my son. Crazy making.

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

Never give up, especially if you have an adult child because researchers need adult neuroplasticity models. There is hope. Researchers are closer than ever to finding breakthrough therapies to help. Don’t imagine a cure. Imagine improved quality of life for your child. That’s the goal here, because even with all the challenges there are still parts of our children that are okay. What’s not okay is repeated seizures or self abuse with no end in sight.

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

Hope.