Written by Silas's Mom
Silas was born with ADNP Syndrome in November of 2012. He was, at first glance, a typical and adorable baby. Over the course of the next three months, we started noticing that something was "off". He didn't make eye contact, had no interest in playing with toys, he had terrible reflex and refused to breastfeed. The delays became more obvious over the first year of life and by the age of 1, we were refereed to Early Intervention and started the journey of seeking a diagnosis.It took years of constant doctor appointments and testing and therapies. After 2 years of this path, the Genetic Doctor was finally ready to throw in the towel and refer him to the NIH. As a last resort, she ordered an Whole Genome Sequence. It took 4 months to get the results back and we only had a 25% chance of a diagnosis from this. Finally the called with the results and said there was a diagnosis! We were so stunned to hear those words, finally! We went to the appt. and learned what little there was to know about this rare genetic syndrome. After joining a Parent support group, we discovered lots of other little ones with the same syndrome. It was such a calming moment to have finally found our tribe!