Silas was born in November of 2012 with fiery red hair and bright blue eyes. He was healthy and so perfect looking; we were in love from the first second we laid eyes on him. It only took 24 hours for the first sign that something wasn’t right to show up. He failed his newborn hearing screening test four times. Over the next few weeks, more red flags waved louder and louder. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
“His constellation of symptoms does not match any known disorder or syndrome.” ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
I can’t tell you how many times I heard this exact sentence from every doctor and specialist my son saw in our two-year journey seeking a diagnosis. We would leave appointments crying and angry because they just didn’t seem to care enough. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
Luckily, we never gave up. We pushed on, and eventually found a pediatrician who cared so much about our little kiddo. He eventually let us to a genetics doctor who was taking on undiagnosed and complicated patients. Four long months later, we finally got that magical call. There was a diagnosis. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
She informed us that Silas has an ultra-rare genetic mutation of the ADNP gene, called Helsmoortel-Van Der AA syndrome. We left disappointed there wasn’t more information. We still had no community. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
After checking around Facebook, we found a group for ADNP parents and asked to join. We finally found our tribe! It’s indescribable, the feeling you get, when you finally meet other families who know what you’re going through. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
You are your child’s advocate. Never give up, and never let anyone else question what you know to be true about your child. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀
It’s been 2.5 years since Silas has received his diagnosis and since then he’s gotten several other diagnoses (including other rare ones) but his joy outshines our own grief most days and his ability to roll with the punches encourages us to do the same.
Silas
