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Why We Didn't Accept 'No' for an Answer When Finding a Diagnosis for Our Child

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“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. He wasn’t easy to figure out, so they passed him on to the next department.

Penny and Silas smiling

Penny and Silas.

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 screening test four times. We were sent home with instructions to see an audiologist and get another test. Over the next few weeks, more red flags waved louder and louder. He wasn’t making eye contact, he wasn’t latching on to breastfeed, he would bottle feed and then spit up half or more of his bottle.  Over the next few months, he showed no interest in playing with toys and even with assistance, would just drop the toys on the floor.

Over the first year of life we brought these concerns up to his pediatrician, and after marking off “no” 99 percent of his nine-month questionnaire, we got our very first referral to a geneticist. Then began the two-year string of endless appointments, needle pokes and sedated everything! Every doctor we saw brought up autism countless times, since he showed the traits. We knew in our guts this was something genetic. We kept telling them we weren’t going to let them diagnosis him with autism because once they did, they would stop looking into a further diagnosis.

We heard from family and friends “maybe he’ll grow out of it” or “my (insert relative’s name here) didn’t talk until he was five, and now he’s a genius.” I know these things were said out of good faith, but they stung every time. There is nothing more painful than knowing your child inside and out, knowing something was yet to be discovered, and not having anyone in the medical field who will listen to your parental instincts.

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. She ran six different single-gene tests and they all came back negative. She was finally ready to throw in the towel herself. Her next move was to refer him to the National Institute of Health in Washington D.C., but first she wanted to try whole exome sequencing. She warned us there was only a 25 percent chance of getting a diagnosis and a four-month wait time. Four long months later, we finally got that magical call. There was a diagnosis.

We met with the geneticist a week later. She informed us that Silas has an ultra rare genetic mutation of the ADNP gene, called Helsmoortel-Van Der AA syndrome (we call it ADNP syndrome for short).

They had one publication on ADNP, which told us what we already knew about him.

We left disappointed there wasn’t more information.

We still didn’t know what to expect in the future.

We still had no community.

After checking around Facebook, we found a group for ADNP parents and asked to join. After we joined, we discovered there were 33 other kids worldwide with this syndrome. We finally found our tribe! Since joining this group, there are now 80 kids worldwide with ADNP syndrome. Thanks to our “ADNP Mom,” Sandra Sermone, we have a fantastic website, a newly formed foundation, and a true family.

It’s indescribable, the feeling you get, when you finally meet other families who know what you’re going through. Together as a family, with the tireless work of Sandra, Dr. Illana Gozes, and Cognitive Genetics Antwerp, we will find a cure. But in the meantime, we will educate the medical community about this rare, new syndrome, so other parents don’t have to fight so long and hard to get their child the diagnosis and help they deserve.

You are your child’s advocate. Never give up, and never let anyone else question what you know to be true about your child.

Click here to donate to Silas’ fund for a service dog

Visit ADNP Kids here

Originally published: October 11, 2016
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