KOHEN

My Smith-Kingsmore warrior’s name is Kohen! Our journey with our sweet boy started when I was around 20 weeks pregnant with him. He had two markers for Down-Syndrome (thickened nuchal skin fold and ventriculomegaly). We had the blood test performed and it was negative. Kohen was born five weeks early, but he was perfectly healthy and did not have to stay in the NICU. When he was around six months old, I took him to see his pediatrician because he had a cold. The pediatrician noticed his head was above average and sent him for an ultrasound which showed enlarged ventricles. We were then sent to a neurosurgeon who then sent us to a geneticist in New Orleans. By this time, Kohen was over a year old and was not meeting any milestones. Initially the geneticist thought Kohen had Soto syndrome based on his facial features. Kohen had a blood test which was negative for Soto syndrome. We then proceeded with a full genetic panel. We received Kohen’s diagnosis of Smith-Kingsmore Syndrome in January of 2017.

At the time the genetics team informed us that there was only four other cases in the world. I asked the genetic counselor what Kohen would be like when he was older and she couldn’t tell me because it is so rare. She did tell me something I will always remember, “Kohen will be exactly who he was meant to be.”

Now we have a happy, healthy five-year-old boy who we like to call our “big baby.” Kohen has global developmental delay, sensory processing disorder, cortical vision impairment, and hypotonia. He first started walking at age 3 1/2 and we felt like it was a miracle. He attends preschool in a typical classroom but will go into a special needs classroom when he starts kindergarten. He receives speech therapy, occupational therapy, and physical therapy twice a week. He is currently nonverbal, but I have hope that one day he will find some words. Thankfully there is a Facebook group for Smith-Kingsmore syndrome, and I find much needed support communicating with other families. This community has expanded since Kohen was initially diagnosed and we are so grateful for it.

Written by Brooke, Kohen’s mom