Work can be especially hard for me, mostly because I have too much time to think. Night shift was dreadful. I spent most of the night crying and researching. Researching what really, im not sure. I am conviced the Schiz moms and myself know more then the physicians and anything I will find on the internet. Dr google isnt going to tell me my babys future.
I havnt had the time to get her papers into disability, her research forms for the Welsh lab in Boston, or the application for a service dog. I need a good solid day of not having to do house work or watch Ari ( yea right ). Life's busy and stressful enough with a baby without adding that she has special needs. Even if she isnt showing it yet, I am a constant mess.
The topic of make-a-wish came up. Unfortunatly she has to be at least 2 and a half. Although I think its mostly for trips, which I would want her to be older anyhow.
I also think I need to look into some counseling or meds. I feel like I am losing my mind. Sometimes I feel like too, as stupid as this sounds, that Jesse somehow blames me. I mean, I feel responsible sometimes, I carried her. I must somehow been at fault right???
Arianna has to go for blood work this saturday. Its one of the worse things and im dreading it. We have to go three more times for her endocrinology blood work. There are 6 different orders and they can only take so much out at a time and you have to wait a certain amount of time to get more drawn.
The talk of having more kids is constantly thrown around. I would idealy like to wait until shes at least 2. I hear by 2 years old you will have a good idea of what her future will be like as far as what hardships she will face. I would feel incredably quilty not giving her all of my attention. I feel bad enough I am not able to be with her everyday. I think shes going to think the baby sitter is mom. Which I guess is completely rediculous.
They are also not sure if its a genetic condition. We go back in July to CHOP ( my favorite place ) to get results. There is so little know about it. Could be environmental, which kills me day to day wracking my brain on what I did the first month or two. What I could had breathed in or was it because I crossed my legs and she didnt get enough oxygen? Was it because I painted my nails and inhaled the remover? Was it because I didnt know I was pregnent until 8 weeks and I was cleaning and smoking and eating crap?
They dont know exactly what week of gestation it occurs in. It could have been an infection, but my CMV came back clear. I wasnt sick the entire time.
Could also be caused by a stroke. Which is what they initially thought thats what she had on the first U/S that showed the shadow.
Her medical records from Women and Babies said it could be mild Schizencephaly. Our neuro refers to it as it being very significant. They didnt even tell me Schiz was a possibility at the high risk doctor, even though it was in my chart that it could be. I am pretty upset about this. But I guess it doesnt make a difference now.
CHOP said chances of it happening again is 2 percent. That was at the first visit. Last visit, its going to depend on if it comes back as a genetic mutation. If it isnt, I am going to be even more depressed thinking I did something. If not, I am going to be so worried about having another baby. The genetic counselor said some genes have been identified to cause Schiz, but its the other type....I forget what it is. Also if that one causes the SOD they dont know either. Its all too confusing for me.
With any chance of it happening again im not sure what Jesse and I will decide. For me, its back and forth. I love Arianna no matter what and I would love my second if she had Schiz just the same. In that respect, doesnt matter. But, I know how devastated I am now. And what I went though hearing it and going through it day to day. Will Ari have a lot of disabilities later in life? I dont know, but I wouldnt want my babys to go through it, so knowing thats a possibility, I dont know if I would chose to have another. But, if it happens I get pregnant I wont be upset :)
Thursday, April 19, 2012
Wednesday, April 18, 2012
Still dealing
I decided not to get the hand splits for little miss. There concern was her keeping them fisted at night and having them stay that way. She doesnt do this however ( CHOP drives me insane ) when shes relaxed her hands are always open. Its A LOT better now through-out the day as well. She is grabing and playing with toys. Her right hand I have to help with a little more but I dont think its anything that requires a splint.
On the note of "average" baby stuff, she has a new sitter which we love love love. So instead of trying to get her into she special needs daycare, I think Meg will be more then perfect unless she ever develops more complications she wouldnt be able to handle. Also, need to get on this sleep training thing and stick with it. Just kills me to hear her fuss or cry. But its killing Jess and I to be up late trying to rock her to sleep. I think it just disrupts her as well.
I would love to be able to stay home with her. Ugh, just dont see it ever beeing possible.
We did get her into seeing PT and OT every other week. Other then that nothing crazy coming up for a while. This month has been quiet as far as doctor appointments go.
Oh, I dont think I commented on the EEG, it is still clear of seizures :) Thats my biggest fear. I know I am going to just die to witness that. We are so blessed that she is doing so good.
I had asked the neurologist about things taking a turn for the worse. He basically said its not a degenerative thing where she will get worse necassarily, but that she may not be able to learn to do things like talk, walk, ect. I know it will hurt the most if I never hear her call me "mom". I am a part of a group of other Schiz moms and I dread asking if its a good sign shes doing so well , meaning do you think she will learn. I know no one has the answers to her future, and I guess I dont really want to know. Or I should say I dont want to hear, what I dont want to hear. So, for now just trying to enjoy every minute and keep faith in my heart that she will be just fine. This is the hardest thing for me from day to day. Not knowing if my baby will be okay. I know I been depressed. And I know I been moody, bitchy, snappy, ect. I know its taking a toll on Jesse and I. He puts up with me though and we push to work through it. I dont think anyone but a mother of this ( or mothers in general ) would fully understand what I am going through and how your heart is constantly hurting even though nothing is "wrong" at the moment.
We are all going out to dinner for my grandfather birthday tonight. Will be a nice night "out". She does very well wherever we go. She is teething though which is making her exceptionaly fussy. God, they get big too fast. She will be 6 months in 2 short weeks.
Little miss sitting up ready to eat
On the note of "average" baby stuff, she has a new sitter which we love love love. So instead of trying to get her into she special needs daycare, I think Meg will be more then perfect unless she ever develops more complications she wouldnt be able to handle. Also, need to get on this sleep training thing and stick with it. Just kills me to hear her fuss or cry. But its killing Jess and I to be up late trying to rock her to sleep. I think it just disrupts her as well.
I would love to be able to stay home with her. Ugh, just dont see it ever beeing possible.
We did get her into seeing PT and OT every other week. Other then that nothing crazy coming up for a while. This month has been quiet as far as doctor appointments go.
Oh, I dont think I commented on the EEG, it is still clear of seizures :) Thats my biggest fear. I know I am going to just die to witness that. We are so blessed that she is doing so good.
I had asked the neurologist about things taking a turn for the worse. He basically said its not a degenerative thing where she will get worse necassarily, but that she may not be able to learn to do things like talk, walk, ect. I know it will hurt the most if I never hear her call me "mom". I am a part of a group of other Schiz moms and I dread asking if its a good sign shes doing so well , meaning do you think she will learn. I know no one has the answers to her future, and I guess I dont really want to know. Or I should say I dont want to hear, what I dont want to hear. So, for now just trying to enjoy every minute and keep faith in my heart that she will be just fine. This is the hardest thing for me from day to day. Not knowing if my baby will be okay. I know I been depressed. And I know I been moody, bitchy, snappy, ect. I know its taking a toll on Jesse and I. He puts up with me though and we push to work through it. I dont think anyone but a mother of this ( or mothers in general ) would fully understand what I am going through and how your heart is constantly hurting even though nothing is "wrong" at the moment.
We are all going out to dinner for my grandfather birthday tonight. Will be a nice night "out". She does very well wherever we go. She is teething though which is making her exceptionaly fussy. God, they get big too fast. She will be 6 months in 2 short weeks.
Little miss sitting up ready to eat
Ari and mommy
Baby girl out soaking up the sun
Daddy's Girl
Arianna in her Easter dress
Her new best friend Loki
Friday, March 23, 2012
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
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
Thursday, March 8, 2012
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.
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.
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