4 months of catch-up

Between being busy and not knowing how to get back onto my blog, I appologize its been a few weeks since I updated.
 We had went to CHOP on wednesday for genetic testing, consults with the OT ( Occupational Therapist) and PT ( Physical Therapist. ), and discussions with the neurologist.
 Our appointment was a little more pleasant then the our first experience, although their communication and organization is lacking. We had no idea we were seeinng anyone but the genetisist. Otherwise I would had brought her medical records and MRI images along. Not to mention they didnt bother to tell me I needed a referal.
 Anyway, the nuero was very pleased in Ari and says shes doing great. They did recommend hand splints and gave us a 5 page booklet of stretches to do to help with keeping her from getting hypertonia. Which is where the joints basically lock up.
 She had to have blood taken and her poor little arm is bruised where they held her down. Thankfuly dad went in with her. Although I heard her scream from the waiting room so I think I would had much rather been with her. They only allowed 1 parent in the room with her, which I think is rediculous.
 She had an EEG done yesterday. We dont have the results back as of yet. I suppose her nuerologist will be ordering them every few months to check to see if there is any indictions there may be a seizure.
 She has been seeing early intervention since she was 2 months. CHOP recommended having them come out once a month now. I wish I was able to stay home with her. Pray dad gets a big raise! :) Or we win the lottery. Both are probably unrealistic but I can dream right?

For those who dont know, I will post the definitions of her medical diagnosis'

Schizencephaly:
Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain.  Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication.  Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence.  Individuals with schizencephaly may also have an abnormally small head, mental retardation, partial or complete paralysis, or poor muscle tone.  Most will experience seizures.  Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus. 

Septo-Optic Dysplasia (SOD):
also known as de Morsier syndrome^[1][2] is a congenital malformation syndrome made manifest by hypoplasia (underdevelopment) of the optic nerve and absence of the septum pellucidum (a midline part of the brain). Vision in each eye can be unaffected, partially lost, or in some patients, completely absent.
Although not included in the name, hypopituitarism is sometimes included in the definition.^[3]
Neuroradiologically, intracranial malformations associated with septo-optic dysplasia include agenesis of the septum pellucidum, schizencephaly, and lobar holoprosencephaly.

Polymicrogyria:
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.
Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected.
Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition.
Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication.
Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum.


Her MRI

Our new baby girl

Introduction

I decided to start writing a blog, more of like a journal to myself. Maybe it will also benefit others who are searching for information, reasurrance, and just someone to relate like I once was.
 My daughter was diagnosed with Schizencephaly. She has bi-lateral open left lip and closed right lip. She also has SOD ( Septic-Optic Dysplasia ), Lissencephaly, and Polymicrogyria.
 We found out when I was 30 weeks pregnant. It started when they found a shadow on an U/S. I was refered to the high-risk specialists where they reffered me to Childrens Hospital of Philadelphia. We were initially told it was most likely a brain bleed. As bad as that sounds, the prognosis was nothing compaired to what we would be later told a few weeks later.
 I of course was a devistated mess after confirming the shadow. By the time we went to CHOP 2 weeks later, I was feeling better, like it would all be okay and this was going to be a waste of a day.
 We had and MRI, EEG, an U/S, and we sat with the genetic counselers. We spent the entire day there, awaiting the results and thinking everything will be fine, its just a minor problem.
 When the doctor walked in holding a model of a brain, I knew something was terribly wrong. There was 3 doctors, my fiance, his mom, sister, and myself all crunched in one room. They said she has whats called Schizencephaly. Basically clefts in her brain. Explained how she will most likely have severe delays, be mentally retarded, will not be independant, and will be born either very limp or very tense. She may not be able to eat and will require a feeding tube or and aparatus for breathing.
 I very slightly remember seeing the images. Or fully hearing everything they said. I remember thinking this was the end of my world, my happiness. I wanted everyone to get away from me, to be alone. I wanted to scream that they were wrong, that this couldnt happen to me and my baby. I wanted to say how this couldnt be possible, I did everything right. I took my prenatals, I stopped smoking, I ate well, I went to my appointments, ect. I was mad at everyone I knew who had nothing wrong with their babies even though I didn't think they made good parents. I immediatly wondered if I was going to be able to handle that life they said layed before me. If she would live. If this was some kind of cruel karma from something I did.
 I blamed myself. I still blame myself. Its something I will forever live with. Although I know I didn't do anything to cause it. I feel responsible.
 The next 7 weeks left of my pregnancy were pretty miserable. I thought about it 24/7 and was constantly scared. When felt her toss and turn, kick, and hiccup, and I felt more at peace. Almost like she was saying "mom, I am okay"
 We had appointments every week getting non stress tests and ultrasounds. We had consults with the NICU doctors and the Nuerologists. I googled everything, and found nothing.
 I was scheduled to be induced November 4th for her having a lower then average weight for her gestational age.
 November 6th 2011 at 2:30 pm, Arianna Renee arrived. Beautiful and healthy. She scored a 9/10 on the apgar. She didnt need to be in the NICU and she was nothing as they said she would be. I guess most moms cry when they first hear their babies and hold them. I couldnt help but sit right up and smile. My baby was here, she was okay. Actually, she was perfect.
 I was thankfull the doctors were wrong about her prognosis at birth. That gave me hope that they could be wrong about what she may be like later in life. All I can do is pray for her. And I do every minute of the day.
 I will post more about our experience since then. This is my birth story, and the beginning to how we got here.