Jacob Milz and siblings

#AmazingIs Stories, Mighty Blog

Jacob’s journey: how genetic testing helped treat pediatric seizures

studio_hbkeysto_20170331_7992588520Jacob was 17 months old when he had his first febrile seizure (a convulsion that occurs when a body temperature is greater than 100.4 degrees. Initially, Jacob’s parents thought it was related to a family history of febrile seizures. However, when Jacob was two and a half years old, he had his first seizure unrelated to a fever. After two hospitalizations and many medications, Jacob’s parents needed answers.

Referred by their primary care provider, Nathan and Anna brought Jacob to Children’s Minnesota for specialized genetic testing. After a seizure panel – a test that examines genes to understand what is going on inside a body – found a mutation in one of Jacob’s genes known as SCN1A, he was referred to Dr. Nancy Mendelsohn, geneticist and chief of specialty care at Children’s. The SCN1A gene was determined to be the cause of epilepsy, the reason for Jacob’s seizures. Further testing showed that Jacob’s father carried the gene and that there was a 50% chance that Jacob’s two younger siblings, Peter and Ruth, had the gene. Peter tested negative while Ruth tested positive.

Because of genetic testing, Jacob’s team (including a geneticist, genetic counselor, neurologist/epileptologist, neuropsychologist, and occupational and physical therapists) was able to develop an effective treatment plan for his seizures, as well as Ruth’s. While Ruth had her first seizure in December 2016 at 10 months old, she began taking medication immediately and has since been doing great.

anna-milz-49aToday, Jacob is an active 7 year old who loves to play with his service dog, Bailey, and spend time with his younger brother and sister. An annual EEG (an electroencephalogram is a test that detects electrical activity in a brain), lab test twice a year and two different medications help Jacob live an active and carefree life. While he doesn’t spend much time at Children’s, he still sleeps with a stuffed animal he affectionately named, “Hospital Bear,” which was gifted to him during one of his stays at the hospital.

Jacob has been seizure free for nearly three years.

Watch the video to learn more about Jacob’s journey at Children’s.

Rachel Patterson