Searching for answers
For the first year of Brady’s life the doctors just thought he was behind from being premature. His pediatrician reassured me it’s normal for premies to take till their first birthday to “catch up”. I began to think there was something wrong long before the doctors but I was 24, a first time mom and had zero experience or credibility so what did I know right? I knew that my baby wasn’t supposed to throw up 6 feet across the room every time he ate, I knew he wasn’t even close to meeting any milestones and I just knew he was different but how do you explain a gut feeling to a Dr.. At this point his only diagnoses were acid reflux, cataracts and torticollis. His one year check up came and the answer to every question was no, by far. He could barely sit up on his own, wasn’t making any eye contact and couldn’t tolerate any solid food. I could tell his Dr was worried but didn’t want me to know. We were referred to neurology, occupational therapy and physical therapy. Six months later with very little progress, I was scared.
I spent the next three years on a mission. I did endless amounts of research, took him to every specialist I could get him into, he was in 4 hours of therapy a week and started preschool on an individual education plan(IEP). He was misdiagnosed multiple times and I knew hundreds of things he didn’t have but felt no closer to an answer two years later. Now the symptoms were endless. Seizures, sleep apnea, anemia, microcephaly, unsteady gait, non-verbal, low muscle tone, sensory issues, anxiety, constipation, behavior problems, ezcema and a duplicated renal system. Why couldn’t anyone figure out what was wrong with my baby?
Finally in April of 2015 we saw a Dr that took interest in Brady. I could see the determination in her eyes, the same look I saw when I looked in the mirror, she wanted to help. I left teary eyed and hopeful. She sent us to human genetics for a micro array and it came back inconclusive. I felt defeated, I’d lost all confidence in the medical industry and with no real diagnosis insurance questioned everything. It was a nightmare!
We went back to see that same Dr a year later and she sent us back to human genetics for more in depth testing, something called a microcephaly panel. By the time we could get an appointment it was June 2016. The genetics Dr did another exam, took blood and said she’d call when the results were in but there was a 50/50 chance it would come back inconclusive and it would take 3-4 months.
October 31st 2016 is a day ill never forget. As I’m getting the boys ready for trick or treat I get the call. The call that I’d been waiting for, the call I thought I wanted for years. The nurse said, do you have 20 minutes? I of course said yes. She said we have an answer, Brady has DYRK1A syndrome. It’s a mutation of chromosome 22 and there’s less than 100 people in the world with this diagnosis. First diagnosed in 2008 and we know very little about the prognosis. My heart sank, I wanted to scream, cry and escape but it was halloween and my kids needed me to be strong. Despite feeling like I’d been punched in the stomach and given a life sentence I picked myself up, brushed myself off, hugged my kids a little tighter than normal and we had a great halloween. I never imagined the answer I wanted for so long would make me so scared. Something in me changed that day. That’s when I decided I wanted to help others in similar situations. At the time I didn’t know how but here I am..
My advice would be don’t give up but enjoy the good times along the way. Take care of yourself and don’t take no for an answer. For me, music is therapy and one of my favorite songs to listen to when I’m feeling defeated is Stand by Rascal Flatts. Find what works for you! If you know anyone going through anything similar send them my way.
Here’s some pictures from our journey..
