Pre School Evaluation

Today was fun Roxy had an Evaluation at the preschool she is going to be attending. The evaluation was with an occupational therapist and physical therapist. They said that she did qualify to be seen by them which i think is awesome it's going to help her tremendously . Here are some pictures of how it went :) enjoy 

 

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When we brought our baby girl home she slept a lot!! Because i did have my baby boy first I knew that  babies had to wake up every 2 or 3 hours to be fed but not my Roxy she had to be woken up to be fed if not who knows she'd probably sleep all day!! Another thing that worried me was the fact that she almost never cried I mean some parents might be like well that's good she didn't cry haha but not me i wanted my baby to let me know what was wrong with her. She never cried if she had peepee or poopoo or if she was hungry and if she did it was the tiniest quietest cry ever. I did let her pediatrician know that we would have to wake her up to be fed and she said that all babies were different to just keep doing what we were doing because she looked healthy. At 5 months Roxy would not sit up like my son did at that age. Our doctor had told us to not compare our babies but i mean it's a little hard not to when you think something wrong is going on. She also seemed very flaccid i notices her muscles weren't very strong. I was also worried about her vision 

When the Neurologist referred us to ECI (Early childhood Intervention) they immediately noticed her low muscle tone and  described it as Hypotonia. Hypotonia means the state of low muscle tone. And started a IFSP for our case which means Individualized Family Service Plan. By the time Roxy was 6 months she started receiving therapy she had occupational therapy physical therapy and speech therapy.

When Roxanne had her MRI done it was one of the scariest day of my life. It all started very strange we got to the hospital MRI room they immediately took her away from me they didn't even let me sooth her while she fell asleep. An hour or so passed by and when they were finally done they had her in a hospital crib, they were going to take us to the recovery room but then something weird happened her blood pressure was doing something weird I'm not a nurse so i don't know if it dropped or it got high all i know is that the nurse almost ran over me trying to take her back to the MRI room because the machine where they had my baby hooked up on started beeping out of control. They didn't even tell me what was going on they didn't even let me in the room where God knows what was happening. When they kicked another mom that was in there out of the room the face that she had when she saw me made me burst into tears she was scared like they were doing something to Roxy. I was so angry that they weren't letting me in there the nurse was telling me that everything was OK but if everything was OK why didn't they let me in there with her?? They never really let me know what happened but all i know is that i don't ever want her to get an MRI again not if she's not going to respond well to the anesthesia. Roxanne also had a series of blood tests done which i also hate because it hurts her but i mean she has to get them done right.

The most reason test she has gotten done is an electroencephalogram (EEG) because one time when she had a cold she had a fever and she had a seizure which i think was not a "normal" seizure because it lasted a long time like an hour. My son also has a history of feveral seizures and his only lasted like 20 minutes of him being out of it. But because my daughter is diagnosed they wanted to make sure it didn't harm her brain or something like that.  That test was a pain in the butt first they put all these little sticky wires on her head then wrapped her head, must i add she is 2 years old so she was really annoyed by it.She started gettingg a little cranky and to top it off they wanted me to put her to sleep when it wasn't even her nap time that REALLY made her mad haha she fought it but she finally fell asleep and they took videos and what ever else they do with that test. We are going to be having a genetics test done in May and i am not looking forward to any more testing i want what's best for my baby girl but enough is enough!! Just let her be she is smart, happy energetic little girl and we love her!!

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.