17q12 duplication syndrome

The story of Elizabeth

This journey has been a very difficult one. It has molded me into the mother I am today. My son, David is not like any other child. He is rare and I’m so proud to be his mommy. 

 It all began the moment I conceived my second baby. We were over-the-moon to welcome another baby in our lives. My pregnancy proved to be very difficult. I developed gestational hypertension very early on, I had some bleeding, and I was miserable. All of David’s scans showed he was “normal”, but I just had this feeling that something wasn’t right. 

 Nine months later, I brought a seemingly healthy baby into this world. He was so beautiful. His skin a rosy pink hue, his black curly hair was matted to his head, and that wonderful cry we always dream of hearing. I told him happy birthday and held him on my chest. Shortly after this, I noticed something was wrong. David was choking. He was not nursing well. His mouth was drooping… I was so concerned. The neonatologist told me he was fine and in a few days we were discharged. 

 As he was growing, I knew something was wrong. He wasn’t meeting any milestones like he should, and no one was listening to me. His pediatrician would tell me he is behind because he is “blonde hair and blue eyes.” I was taken aback and very puzzled. I didn’t take that for an answer. 

 Finally, we had a referral to a neurologist. My excitement was short lived. The neurologist said the same thing, “I am a stressed, over whelmed mother. Nothing is wrong with Dave.” They also told me if he is not walking by 18 months, they will do more tests. 

When he turned 18 months, he still wasn’t walking and was not doing anything he should have been doing. Once again, I made an appointment to see the neurologist. She shrugged it off and refused any treatment. I cried. 
      

Meanwhile, David was in and out of the hospital with pneumonia, upper respiratory infections , and gastrointestinal issues. He wasn’t meeting any milestones. He was extremely behind in all areas. 
      

Finally, a year and a half later, we saw a new neurologist who took me serious. He ordered an mri, ck enzyme panel, and a genetic micro array Analysis. We waited the excruciating eight weeks. During that time, David was in speech therapy, occupational therapy, and physical therapy. 

I can remember this day like it was yesterday. I was sitting in my car, waiting in the car pool line to pick up my older son. The phone rang. It was the neurologist office . The nurse told me that the micro array analysis showed something. She told me the doctor would call me later that evening. 

Sure enough, at 6 o’clock, the doctor called me. It felt like time stopped. He told me David has 17q12 duplication syndrome. Finally we had answers. No more questioning. The fight was over. So I thought. 
      

With this diagnosis, came more questions and answers. Due to the duplication, David has: hypotonia, dysphasia, Flash penetration aspiration, severe constipation, Global  delays, seizures,  Acid reflux and so much more.
      

With this new diagnosis, we finally found out What was causing all of his health issues. I finally got him the help he needed. He is thriving in therapy and has improved tremendously. The only issue that is still causing concern is his aspiration which is not under control. Every day we need a new milestones and he continues to amaze me I am so proud of my 17 Q -tie ! I am a mother to a rare child.