Ilana’s Story

Ilana was born in May 2017 and she was a happy and healthy baby.  She achieved milestones according to schedule and we had no idea that anything was wrong until after her second birthday. We were a little concerned when she wasn’t quite walking on her own until 18 months and we did notice that her speech was delayed, but doctors, friends and family assured us that those things were normal. That some kids just don’t talk until they’re three years old, and then they will suddenly speak in full sentences.  Despite all of the reassurances, we still had an uneasy feeling that something wasn’t quite right.

In October 2019, we had Ilana evaluated by Regional Center, and they noticed Ilana’s ataxia right away.  They also noticed that there was a chance she was having very subtle absence seizures, but they could not confirm this and urged us to consult a neurologist.

We took Ilana to a neurologist, who examined her and sent her for an hour long EEG.  During her EEG, she had one two minute atypical absence seizure.  Ilana’s neurologist wanted to know more.  She immediately sent in for genetic testing, and we got the result that Ilana has gain of function KCNA2 in early January 2020.  Although the neurologist suspected that the gene mutation was de novo to Ilana, she confirmed this with genetic testing for Ilana’s parents, Alysha and Graham and Ilana’s little sister, Maya.  Alysha, Graham and Maya were negative for the KCNA2 mutation, confirming that this mutation was de novo to Ilana.

Since her diagnosis, Ilana was referred to occupational therapy, speech therapy and physical therapy. She also tried vision therapy, but had trouble cooperating and she will try it again in the future.

Unfortunately, Ilana’s symptoms have progressed over the course of the last year and between medication side effects and developing new symptoms, Ilana’s condition has worsened.  She has experienced a cycle of lack of appetite, sleep problems, and digestion problems which have led to decreased energy, increased ataxia, increased seizures and poor weight gain.

Although Ilana still does not have seizure control, we have recently seen a huge improvement in her global development.  She is gaining weight, she has energy, her ataxia has greatly improved, she is speaking and singing and there have been improvements to her gross and fine motor skills.

Ilana is a sweet, funny, loving, and empathetic little girl.  She loves cuddles and displays concern when other kids are crying.  She is always thinking about her little sister Maya, and brings her items that may comfort her.  She enjoys playing at the park with her sister, listening to music and dancing.