Meet Roxanne (Roxy) And her story on how she was diagnosed

Little Roxy Born April 15 2012 weighing 6 lbs 15oz tiny little thing. The first thing i noticed when she came into this world was her beautiful cherry colored lips and her tiny little cry. There were no complications during her birth, the only thing is that i was induced because she was overdue. Poor baby they evicted her haha I guess she was just too comfortable in mommy's tummy.
  

Roxanne on her 2nd Birthday Pool Party

The reason why Roxanne was diagnosed with 1q21.1 micro duplication was because when she was 5 months old we noticed that she wasn't reaching her milestones and one of her little eye would stay crossed for a long period of time. We made an appointment with her pediatrician and she referred us to an eye Dr and a neurologist. 

When she had her eye exam the eye Dr. said that she was not visually tracking us because there was something wrong with her brain :( (I must admit I got a little scared) and said that if we wanted to strengthen her eyes for us to patch up one eye for two hours once a day and the next day the other eye for the same amount of time. So we did. 

A little bit after the eye Dr. visit she had her first visit to the neurologist i was a little nervous already because of what the eye Dr had told us but i wanted to help my baby girl in any way i could so i just sucked it up. Her first visit was mainly just a check up, checked her weight, head measurements, temperature basics. Then we had a talk with the neurologist about what our concerns were and he sent her to get an MRI and blood work done. When we went for the follow up he told us that Roxy had something called white matter loss and didn't really explain what it meant so I like any other person "Googled" the meaning and got quite a scare. If you google you probably know by now that the sources aren't always very accurate haha so i decided to just wait till i got the blood work results back to really know what was going on with her.  

Before we got the blood work results back the Neurologist suggested for us to call ECI (Early Childhood Intervention) so they could help her reach her milestones with therapy and anything else they could help her with. When they got the blood work results the Dr diagnosed her with 1q21.1 micro duplication and gave me a booklet with some information that i could've gotten off of google :/.(Here is the link to that booklet http://www.rarechromo.org/information/Chromosome%20%201/1q21.1%20microduplications%20FTNW.pdf   )

That day i do not know what was up his you know what but he was treating me very rude like he didn't want me there or something.  He told me that maybe i shouldn't have more kids because they were gonna come out retarded, with my son standing next to me whom I may add has never been diagnosed with anything ugh i was beyond pissed!! Regardless i just kept my mouth shut when i really wanted to say "How dare you!!! I don't know about you all but even if i knew when Roxy was in my belly that she was going to come out "retarded" like he said I would've still had her!! But anyways that is how we found out she had that.