About My Daughter

My daughter's makeup in my belly was pretty much the same as outside of it!  While I was pregnant with her I had a hard time tolerating food, was tired all of the time and had a difficult time keeping her from coming out!  Once born she had a hard time eating, (was allergic to milk and spit up constantly), slept a lot and did end up coming early.
She spend 11 days in the NICU for feeding and apnea  issues.  Once we brought her home we noticed breathing problems and she just seemed uncomfortable.  I brought these issue up to her pediatrician and she just brushed them off.  Within a week she became sick.  I had her sleeping in her car seat and stayed up all night because she was having trouble breathing.  I took her to the doctor the next morning and he told me she had infant phlegm and asked me why I thought she always has trouble breathing.  As though I was crazy!  The next night we called 911 because she was turning blue.   She then spent 5 days in the hospital for RSV.  While in the hospital they finally acknowledged that she also had GERD and put her on medicine for reflux.    While in the hospital we fired our pediatrician and moved her to another hospital.
Once out of the hospital we started seeing a GI specialist for the GERD.  About 2 weeks after being released from the hospital my daughter broke out in eczema.  It covered her entire face and chest.  I was told this was normal and to put on hydrocortizone followed by Aquaphore 2 times a day.   I did this but the rash got worse.  I suggested to the GI specialist she was allergic to the reflux medicine and he said not likely.  After taking her to the pediatrician for the 3rd time because the rash was not clearing they suggested cutting back on milk to see if that had an effect.  BINGO!  Turns out she was allergic to milk and was the cause of her breathing problems and GERD.
While in the hospital one of the pediatricians suggested I refer her to Early Intervention when we got home.  EI saw her for the next 18 months for Torticollis, Feeding Issues and Speech.  She was late to crawl and walk but never qualified for those issues simple because of the timing (crawling isn't a qualifying issue anyway).  Although late she eventually crawled and walked.  EI was also instrumental with other issues along the way.

Evi age 2

At around 18 months we moved to NY and she started talking.  For this reason I didn't transfer services and I regret this decision.  She continued to have GERD and we started seeing a new GI specialist who actually performed tests and switched her medication.  Within a few months the GERD resolved and she was off the medication.
Since then I still saw issues but pretty much everyone told me I was over worrying.  She did have a pediatrician that I loved and took my concerns seriously but the Hypotonia was still not caught.  She even sent me to a Neurologist for her head size.  He had no concerns at the time.
It wasn't until her second year of pre-school that her teacher suggested I have her evaluated by the school district for PT that we got help.  When she brought it up to me she couldn't believe how well I was taking this suggestion.  I wanted to kiss her because for the first time someone saw what I saw!
The school district evaluated her and said she needed to see an Orthopedists.  She had flat feet and all of the issues were being caused by this.  Her teacher was like NO that is not good enough and told me she thought she had Hypotonia.  She said my daughter has it that is why I can see it in your daughter.  I googled it and was amazed.....  Just about every issue she had in the past could be explained by this.  I immediately found a PT.  Then went to her pediatrician who suggested she see a Neurologist.  I went back to the same Neurologist we saw when she was two because I like him.
He scared us because he didn't rule out MD right away and did some blood work.  He found a Chromosomal Anomaly.  We then went to a geneticist.  She has a deletion on her x chromosome which is related to intellectual disability.  Turns out I have the same deletion and despite the fact that at times I struggle with the written language I do not have an intellectual disability.  I also do not have Hypotonia so it still leaves us wondering what affects this deletion will have on her.  We do think she is having seizures but they are not bad and her EEG came back normal so she is not on medication.  Now that I know what a seizure can look like this might change (if I think she is having them I am supposed to take her back to the neurologist).  She also needs to see a cardiologist every year to make sure her heart is developing properly but right now we are good in that area too!
Her Hypotonia is improving with therapy so we chose not to do a Muscle Biopsy or any additional testing.  If she seems like she is getting worse at some point I might pursue this but for now we are good.
Evelyn is a fantastic kid and I am a better person for not only raising her but just knowing her.  She is sweet, kind and very determined.  It is these attributes that will take her places in life.  I have no doubt she will be successful in everything she does.