CHARLOTTE

Meet Charlotte! Charlotte was born a beautiful, healthy, baby girl with no real acknowledgment of any underlying issues. She had a tongue tie, and eventually developed a hemangioma on her forehead, but nothing super suspicious as many babies have these things present at birth. At 4 months old, we realized Charlotte was not visually tracking objects and she began early intervention soon thereafter as a vision impairment usually qualifies the child for all the services that are available (physical, occupational, speech and vision therapies). At her 6 month checkup the doctor checked to see if she could bear weight and instead of stretching her legs out like her siblings before her, she kept her legs curled and tucked beneath her. She was eventually diagnosed with hypotonia (low muscle tone) and continues what has to have been hundreds of therapy sessions. She is developmentally delayed, has several autistic like behaviors, and difficulty developing speech. We later learned she couldn’t hear due to fluid in her ears and she got tubes put in.

We were once told that genetic testing would only give us a name to what she had and in no real way ‘help’ her. (We later learned that this information is incorrect and that there is a fair amount of studies and research in the works!) In 2019 we saw a geneticist who believed based on Charlotte’s large head, depressed nasal bridge and the aforementioned information that she would be a great candidate for more in depth testing. Just before the first ever inaugural Smith-Kingsmore Syndrome (SKS) Conference we received our diagnosis from the WES (whole exome sequencing) test. Charlotte had been diagnosed with SKS, with about an estimated 50 other known cases at the time. With so few cases they couldn’t tell us what her future would look like but made sure we knew anything was possible for our sweet girl.

Today, Charlotte is a happy and delightful 5 year old in Pre-Kindergarten. She loves her siblings and classmates and seeing all the things they can do pushes her to want to do more. She began walking independently at 3 years old. Her speech also continues to develop. She does have Cortical Vision Impairment but glasses seem to help her. When we think of Charlotte, the first thing we think of, is her happy disposition and her love of social interaction with those familiar to her. She loves being with family, going to school, church, singing songs and has an insatiable appetite.

We hope Charlotte’s story will bring awareness to Smith-Kingsmore Syndrome. With awareness comes more diagnosis of the undiagnosed, and a foundation capable of research that could help improve the lives of all our beautiful SKS children.

Written by Ash Ley, Charlotte’s mother