Yovani's Story

Our son Yovani, 5 years, was diagnosed in March 2017.

There was nothing unusual about my pregnancy. He was born at 37.5 weeks, 5 lbs. 15 oz. 19” long. He was on the smaller side but nothing to be concerned about, so we were told. At the hospital he wasn't nursing as often as they would like so we were kept an extra day to monitor his feeding. He was born with a murmur (small VSD, PDA, and PFO) which thankfully all closed on their own by the time he was 7 months. He also has a sacral dimple, which is not of concern after being checked. He failed his hearing screening and then had a diagnostic ABR which indicated normal hearing, but fluid in his middle ear was still an issue. We continued to see an ENT and got PE tubes in his ears to help with the fluid – he is currently on his fourth set.

We noticed something was different when he was a month old and he would look passed us, never at us. He wasn't doing things his older sister would do throughout the months. But we were told that boys usually take longer than girls to learn. Then he started falling behind on his milestones. The process began to find if there was an underlying issue. We were referred to Neurology and Genetics. An MRI was done which showed he has an arachnoid cyst, but that was not the cause of developmental delay. The Geneticist began with an Autism/metabolism panel which came back normal. Yovani was then tested through a specific genome test. It was this test that found a mutation in his SON gene. He was 18 months old when he was diagnosed with ZTTK syndrome.

Yovani got enrolled in early intervention services at 10 months to begin physical and occupational therapy. He rolled from tummy to back at 4 months, but from back to tummy at 9 months. He sat independently at 14 months after being in physical therapy for 4 months. He started to scoot on his butt at 18 months and randomly started crawling at 2 years. I say randomly because he had already started taking steps towards people at 20 months and then decided he wanted to crawl instead. He took his first steps at 21 months, and it took him another 10 months to fully walk on his own. He has worn SMO’s since he was one. Now he is all over the place and is improving his running skills. He jumps off 10-inch steps and climbs up-stairs independently. He has become quite the little hiker which has greatly helped with muscle tone. Keeping up with sister and brother has definitely helped him improve his gross motor skills.

Growth wise he has gone from failure to thrive to the third percentile on a high calorie diet. He has become a picky eater, but his favorite foods are Pizza and blueberries. Those are our go-to meals when he is having an off day. For a while, he took Kate Farms to help with weight gain. There was a while when he would gain weight, but then he would get sick and lose all he would gain. He was tongue and lip tied, which were corrected at 6 months. Through some feeding difficulties, I was still able to breastfeed for 2 years, which I am thankful for.

When he was two and a half, during his third Myringotomy – ear tube surgery – He was given another diagnostic BAER to check his hearing. It was confirmed that he has a bilateral mild-moderate sensorineural hearing loss. Yovani received hearing aids and, thankfully, since day one we have had no issues with keeping them on. It was determined that his hearing loss is late-onset. Since attending speech therapy, he has progressed so much in language. He went from knowing 10 words at age two to now saying 5-6 word sentences, has strong receptive language, and is improving his intelligibility.

When he turned 3, he transitioned out of Early Intervention and into a developmental preschool. He was evaluated and given an IEP for hearing loss and developmental delay. The first year was hard for a few months because of the separation anxiety. For his second year we were expecting some tears and hesitation, but the opposite occurred. He was so excited to go play that he almost forgot to say goodbye. He loves school and has learned so much. He is now in kindergarten which has been virtual most of the year thanks to COVID-19. He is in a special education classroom receiving various services with a great team of teachers and therapists.

In addition to having strabismus, he was diagnosed with Cortical Vision Impairment (CVI) the summer before his fifth birthday. This gave us the answer for why he wouldn’t provide eye contact when we would talk to him but would look at us during other times. It also explained why he looks down at an activity, then looks away to it or why it seems he doesn’t pay attention when he is walking.

In his short five years of life, Yovani has introduced us to the power of resiliency, adaptability, and more importantly, love. He has taught us more about life in his short years than we knew as adults and made us realize what really is important. His contagious laugh fills the room. He loves playing with his older sister and baby brother. He loves cuddles from mom and dad. He loves hide-and-seek, all things sports, music, Toy Story, Avengers, Doc McStuffins and Daniel Tiger. He is the bravest person we know. We couldn’t for one second imagine our family without him.

There is so much unknown about the effects of ZTTK syndrome and we know our son will help bring light to information for researchers, providers, and more importantly families. During this journey, just keep in mind that our children are mighty warriors shining bright everywhere they go in life.