Rock A Bye Baby

There are many things I knew would change when we had Sophia.  I distinctly remember being caught off guard after having Andrew about certain aspects of parenthood.  I knew that the first couple of months would be full of poopy diapers, crying, and sleepless nights.  However, I never expected that Sophia would be still waking up in the middle of the night to eat at 9 months old. 

At Sophia's 9 month check up her pediatrician asked all the standard questions, how many dirty/wet diapers a day, how much does she eat, what is she eating, and then she asked about sleeping.  How many hours does Sophia sleep at night?  Well, Sophia sleeps about 9-10 hours at night.  Continuous? No.  Is she eating when she wakes up? Yes.  Okay well that stops tonight.  She then coached us on how to teach Sophia to sleep through the night.

Well, I have been waiting for this week for the last year and a half...to be able to sleep through the night without being woken up!  Sophia has officially had 4 nights where she has slept through the night!!!  I am so proud of my little girl.  The first night was quite rough.  She was awake and crying from midnight until 3am.  Rusty went in several times to console her without picking her up and she finally fell back asleep.  Since then she has slept through the night each night, and so have we!

I like to move it move it

We are in for a huge change, our baby girl is on the move.  Sophia started crawling on Monday, June 6th during her occupational therapy visit.  She had been getting up on all fours for about a week and would just rock back and forth.  It looked like she really wanted to go somewhere but she just wasn't sure how to get there.  Well, she finally figured it out and now she is unstoppable.

This video shows how it played out.  Sophia was up on all fours and her OT was trying to entice her with toys.  It definitely worked because she started moving towards the toys.  Luckily I was present and able to catch it on my cell phone camera.  I was so excited about it that I forgot that our video camera was about 3 feet away.  But needless to say this has opened up a whole new world for Sophia.

Attempting to crawl and chew a toy

 She is now able to get to all kinds of toys.  Drew is not so keen on this as she tends to pile all the toys near her and protests when he trys to play with any of them.  This also means that she can touch his things, his chair, his shoes, his toys etc.  However, this seems to have made him much more interested in his little sister.  Previously he would give her a hug and a kiss in the morning but that was about it.  Now he will bring her things or laugh when she gets in a compromising situation.  He now pays attention to her and reports back to us on all of her movements, kinda like a small CIA agent.

Downward facing dog

For a little girl that wasn't supposed to do too much, Sophia sure is surprising us on a daily basis.  We ask for your continued prayers - for her head to grow to a normal size for her age and for her vision to improve.  There are no medical interventions that can improve these things so our hope is for a miracle.  We truly believe that her accomplishments to this point are because of the prayers offered on her behalf.  Thank you all so very much for keeping our little angel in your thoughts & prayers, we will never be able to thank you enough.

That's My Girl

At the recommendation of several of Sophia's specialists we took Sophia to see a geneticst.  We chose to go to Houston and see a geneticist who is heavily involved in Aircardi research and treats several of the Aicardi girls.  It took us almost 3 months to get an appointment, but on May 26th we were able to meet with him.  It was such a good visit for us.

The morning of our visit

Our visit started as so many others have, providing a complete medical history from Rusty & I.  Except this time we were asked to provide the medical history of our family as far back as we knew.  Luckily I am very inquisitive about our family's medical issues and was able to provide a pretty detailed history.  The doctor then talked with us about Sophia's medical history.  For such a little girl she sure does have an extensive and complicated medical history.  We had all of Sophia's doctors send their reports, test results and images to the geneticist for his review.  He had thoroughly looked over the records and was able to talk to us about what he gathered from his reading and what he would like to do to proceed from now on.

He also did a very thorough physical exam on Sophia.  He counted her fingers and toes, looked between them to make sure there was no webbing, checked her from head to toe & front to back to make sure there were no obvious or hidden deformities.  He also weighed & measured Sophia. 

After all this he gave us some great news.  While Sophia does most likely have Aicardi, he said that Sophia is by far the best Aicardi girl he has ever seen.  During our visit Sophia was sitting on the floor playing with her toys and babbling to herself.  He said that the majority of his girls don't sit independently and the fact that she was babbling at her age was such a positive sign.  He went on to say that he believes that Sophia will continue with our help, the help of therapy, and those who help in her care, to continue developing as normally as possible.  He did recommend that we have her neuro ophthalmologist take pictures of her retinas, do further genetic testing and enroll her in a study for Aicardi at the Baylor College of Medicine in Houston (which we did).  We are currently waiting for an appointment for Sophia to have her retinal pictures taken, this requires her to undergo general anesthesia in an OR setting & also for the further genetic testing - insurance is the hold up there.

Having said all this, I was so happy and kept thinking, "That's MY Girl!"

If you are interested, here is a link to the study we enrolled Sophia in:
http://www.bcm.edu/genetics/vandenveyver/index.cfm?pmid=6931http://www.bcm.edu/genetics/vandenveyver/index.cfm?pmid=6931

Sitting Pretty

Sitting during therapy

For several weeks we have been working on getting Sophia to sit independently. It was one of the main things her therapists focused on during our weekly visits. We would support her in different positions encouraging her to use her abdominal and core muscles. She was quite reluctant to sit by herself - she would prefer to be sitting supported, standing (supported of course) or lying on the floor. Well, during her occupational therapy visit on May 19th Sophia started sitting independently. We were sitting on the floor and she was sitting right in front of me. I was supporting her back with my hands and then little by little throughout the visit I moved them away until she was doing it all by herself! It was such a shocker to her and us. There was lots of cheering and clapping. I'm not sure that she really had any clue as to why her therapist and I were so excited.

Waiting at the doctor

I think this was by far the most exciting day that I have had since she was born. For so long we had no expectations for Sophia. We didn't know if she would ever be able to eat, babble, sit up, crawl etc. The other girls with Aicardi are very limited in their abilities so using them as a reference we didn't want to set unrealistic expectations.  Needless to say, we have always been hoping for the best but preparing for the worst. So, for her to be able to do something that I never thought she was going to be able to do was...amazing!  I think that it gave me the realization that great things can happen and that perhaps she can do anything. 

Now that Sophia can sit independently it has opened up a whole new world for her. She loves to sit amongst all of her toys and bang, roll and shake them to her hearts content. She has so much more freedom in her movement and she seems to really enjoy it. It has also given me the ability to put her down for longer periods of time allowing her to play while I change out the laundry, work on fixing dinner or doing household chores. In addition, Drew has taken more of an interest in his baby sister, helping her get toys that roll out of her reach or enticing her with toys that make noise or vibrate.

We are so very lucky to have Sophia in our lives and each little milestone that she achieves is like winning the Boston Marathon for us. We just revel in her accomplishments while remembering to keep pushing her farther to continue developing and learning each day.

Playing at home

Just Another Manic Monday

Mondays are Sophia's therapy days.  They are typically pretty hectic days with our house serving as a hub for therapists coming and going.  Here's a glimpse at what today held...

1 am      -  Sophia wakes up for a feeding, then I put her back to sleep
3:30 am -  Up for another feeding, I attribute this to the fact that she is teething, I put her back to sleep
3:45 am -  She is still awake so Rusty gets up to give her Ibuprofen, I'm pretty tired so I let him handle  this one
7 am      -  Drew wakes up and wants to watch cartoons, Sophia follows suit
7:30 am -  I've gotten dressed, now it is time to get the kids dressed, fed and medication administered
8:35 am -  Everyone is dressed and ready to go, Sophia & I take Drew to school
9:30 am -  Vision therapist & mobility specialist are here - We work on getting Sophia to reach for things just beyond her arms length.  She is sitting independently now and we are wanting to encourage her to start crawling. 
10:30 am-  Mommy's counselor is here.  We talk about warm fuzzy things and the not so warm fuzzy things.
11:30 am-  Mommy's counselor leaves and it is time for us to go pick up Daddy for his Birthday Lunch
1:00 pm  -  Back at our house, I feed Sophia and put her down for a nap
2:30 pm  -  Sophia's physical therapist is supposed to be here, but she is running late...
3:05 pm  -  Sophia's PT shows up.  We work on getting Sophia comfortable with the way her body needs to move to start crawling.  She does not like this at all.
3:50 pm  -  We leave our house to head to Mommy's chiropractor. 
4:00 pm  -  Mommy's chiropractor is running late...everyone is running late today
4:15 pm  -  We see Mommy's chiropractor & Mommy feels so much better afterwards
4:38 pm  -  Back at our house.  Sophia's Occupational Therapist is here.  We work on getting her to sit in a side sitting position.  Yet again, she doesn't like this.  Towards the end of therapy she is getting very frustrated and tired.  Lots of tears and cuddling.
5:30 pm  -  Sophia's OT left her keys in her car - so she is waiting for her son to bring her keys
7:00 pm  -  Daddy gets home right as Sophia's OT is leaving.
7:20 pm  -  We all go pick up Drew from school.  Mommy has not had time to go to the grocery store today so we also have to go pick up dinner on the way home.
8:30 pm  -  Back at home.  Mommy & Daddy eat dinner while Drew watches cartoons and plays with Sophia's therapy toys.  Sophia is fast asleep after a full day of therapy.
9:00 pm  -  Just finished giving Drew a bath, Mommy & Daddy give Drew his medicine, brush his teeth, say nighttime prayers and tuck him in.
9:10 pm  -  Mommy & Daddy finally have a moment to talk.  Mommy types away on Sophia's blog while listening to Daddy.
11ish      -  Mommy & Daddy go to sleep, at least for a few hours. 

Beeping Easter Egg Hunt

Ever heard of a Beeping Easter Egg Hunt?  Well, neither had we. However, that all changed on April 21st when we got to experience one first hand.  Sophia's vision teacher told us about this mystical egg hunt that the vision services department of DISD puts on.  Instead of a traditional egg hunt where the kids all line up and start running after eggs when someone says "go", a beeping egg hunt is exactly what it sounds like, beeping eggs.  The organizers scatter eggs that beep around a big open area and right next to the beeping eggs is a basket full of candy.  The kids use the beeping sound to locate the eggs.  When they reach an egg they pick up a piece of candy from the basket and continue on to the next beeping egg, making sure to leave the eggs for the next child.  Of course Sophia is a little young to participate in the egg hunt, but it sure was cute to see all the other kids getting their candy.  Not to mention give us something to look forward to in the years to come.

Beeping Easter Egg

In addition to a Beeping Easter Egg Hunt, we were able to enjoy a morning full of activities with other visually impaired children and their parents.  Sophia was particularly fond of the petting zoo.  A local petting zoo that has therapy certified animals came to allow the kids to have sensory input through tactile stimuli.   They had lots of different animals for the kids to touch, baby rabbits, baby chicks, a snake, and a lizard.  Then they also had bigger animals, a couple goats, a sheep, a pig, a dog, and an enormous rabbit.  I'm pretty sure that the animals weren't expecting such a petite little girl to have so much strength.  She grabbed and held on to them like her life depended on it.  First, one of the baby chicks almost lost a tail.  Then the enormous rabbit became a little less furry on one side.  And to top it all off, much to my dismay, she really enjoyed touching both the snake and lizard, yuck, yuck, yuck!Despite Sophia's tendency towards animal cruelty, it was so amazing to see her interacting with the animals.  Sophia typically keeps her hands balled up when she is touching something new for the first couple of times, but with the animals she touched them all with fully open palms and was so excited to feel their different textures.  I was so blown away by her interaction.  Maybe as she gets a little bit older we can put her in pet therapy or horse therapy.  Who knows...

Sophia's bunny ears

Sophia & the goat

 

Sophia & Papa

At the Beeping Easter Egg Hunt we were lucky enough to meet some other babies and their parents who also had visual impairments.  I'll be honest, I didn't know what to expect.  I thought there would be lots of little elementary school kids and younger, walking and maybe running around with their white canes.  But I was surprised to see that the majority of the kids there had multiple issues, just like Sophia.  They didn't just have issues with their vision, they also had other medical issues including physical or cognitive delays.  There were at least 3 other kids who had microcephaly and I spoke to each of their moms.  It was so nice to speak to a parent who knows what we are going through.  While I know that there are other parents out there who have special needs children, I don't personally know any of them.  I take care of people with needs all the time at work, but they are adults, not children.  So it was a nice bonus to be able to connect with other parents who have some insight into a part of what we are going through. 

Needless to say, the Beeping Easter Egg Hunt was a huge hit for both Mommy & Sophia.

Sophia & the enormous bunny

Sophia, Namaw, Mommy & Papa

Therapy

Over the past few months we have been working hard to get Sophia set up with therapists that will help her physical and mental development.  I am pleased to report that Sophia now has a team of therapists that we work with on a regular basis.  Her therapists have all been coordinated with the help of ECI (Early Childhood Intervention), a state agency authorized to support families with children with disabilities or developmental delays.

Sophia has a case worker, who comes on a monthly basis, to help us review her needs and see if they are being met.  If they are not, or if they change in anyway, we are able to work together to bring on additional help.  Her case worker is also her occupational therapist (OT).  She comes twice per month to work with Sophia in this capacity.  Her goal is to help Sophia with her activities of daily living.  Eventually this will be things like brushing her teeth and hair, getting dressed, and doing household tasks.  Right now, we primarily work on sitting, which she detests, and increasing her muscle strength by "helping" her do things like tummy time, lying on her side, and her head & neck control.  During our last visit the OT placed Sophia on a big exercise ball rolling it around to help Sophia strengthen her abdominal muscles.  She was so impressed with Sophia...she didn't cry even once.  Sophia seemed to really enjoy the new experience.

Did you know there was such a thing as a vision teacher?  Well, we didn't, but now we do.  Sophia's vision teacher comes to work with her once a week.  Her goal is to help maximize Sophia's vision and increase her awareness of the environment around her by utilizing all of her senses.  She brings the most wonderful toys for Sophia to play with.  Sometimes Drew is here during therapy time and I think that he sees the vision teacher as a kind of Santa Clause.  The vision teacher brings huge bags of special toys that have flashing lights, vibrate and make all kinds of noises.  This is all so exciting to Drew who can't wait to start pulling out every toy in her bag.  Sophia's favorite toys are the ones that vibrate and play songs, but her ultimate toy is the one that she can also put in her mouth.  Our goals with Sophia right now are for her to reach for a toy that vibrates or makes noises that is placed just out of her reach.

Developmental Specialist.  Yet another new person that we have incorporated into therapy for Sophia.  She comes twice a month to help Sophia through various physical and behavioral therapy techniques.  In her words, she will, "work Sophia out without her ever knowing that she is working out."  For instance, she has Sophia sit up while supporting her from behind by placing her hand behind Sophia's head and the other hand on her shoulder.  This forces Sophia to use her abdominal & oblique muscles to support herself.  She not only teaches Sophia, but also us.  That way we can do our "homework" between visits.

We are so lucky to have these professionals in our lives.  They are so very patient with us and show us the little things that make such a difference in caring for Sophia.  They have also taught us that items that are ok for other babies are not good ideas for Sophia.  For instance, a Bumbo chair...this allows Sophia to be propped when she is sitting and doesn't force her to hold her own weight.  I never thought of it that way.  It is for these reasons and so many more that I look forward to her weekly therapy visits and can't wait to see the positive impact they will have on Sophia's development.

The Wizard of Oz

On Thursday, March 31st we took Sophia to see the Neuro-Ophthalmologist at Children's Medical Center in Dallas.  He is the doctor that we have been wanting to see since December when we first learned of Sophia's problems. It took quite a while to get an appointment with him, jumping through all the proverbial hoops, seeing 3 other doctors before he would accept Sophia as a patient.  But now she is in!

I was really dreading this visit, earlier in the day Sophia's vision teacher gave me paperwork that the ophthalmologist filled out and provided to the state of Texas saying that Sophia is legally blind, appears to have no vision and that this is a permanent condition that will most likely not get better.  I knew that she had a severe visual impairment and that her vision will most likely never be normal, but to have it written on an official document made it so very real and concrete.  I guess looking at the bright side of things, it will enable us to get additional services for Sophia - we already have a vision teacher/vision therapist for her, but now she will also be referred to the Texas Division for Assistive & Rehabilitative Services.

Ok, so back to her visit...it started with us providing all the details on my pregnancy & Sophia's medical history.  We discussed all the tests that she has had up to this point and those that we have coming up (we are taking Sophia to Houston in May to see a geneticist, genetic ophthalmologist and a neurologist that has treated some other Aicardi girls).  The doctor went over her MRI, taking time to show us the areas of Sophia's brain that don't quite look normal and that are most likely responsible for her visual problems.  He noted that Sophia's cerebellum is a little too large and that the sulci in her brain are widened.  He also did a full eye exam on Sophia looking at her retinas and assessing her ability to track objects.  All stuff that she has had done before.

However, this time he made some miraculous discoveries.  First, Sophia showed us all that she is able to track a penlight.  He put a penlight in front of her and she watched it move from left to right with the lights in the room both on and off.  She has never done this before.  It was like all of a sudden something in her switched on and she just started tracking it.  She was also able to look at him for a full three seconds without her eyes roving.  Typically Sophia's eyes are constantly moving they never stop to focus on anything, but during this visit they did!  The doctor was so very positive about her new found abilities.  He told us that after looking at her chart and the notes from the other doctors, he thought she would be so much worse than she is.  He also told us that he sees 6 other Aicardi girls and that he does believe that she has Aicardi.  But that none of the girls are exactly the same, they are all different in their own ways.  He was the first doctor to be able to put her neurological and ophthalmological problems together and give us a complete picture. 


Our next visit is in three months.  He plans to see what her visual abilities are, if they have changed for the better or worse, and also to take some pictures of her retinas using a special camera so that he can document the location of her retinal lacunae.  He is also interested to see what the specialists in Houston say about her condition.  I definitely have to say that The Wizard of Oz was not just a little man behind the curtain, but someone who was able to give us some answers to our daughter's very complex problems.

On a side note, I ask that you continue to pray for Sophia.  Please pray for healing, for her brain to grow and her vision to improve, and for her to continue developing into a beautiful healthy little girl.  I truly believe that the Lord is hearing our prayers for her to get better.  Nothing else can explain her miraculous transformation.  From the very bottom of my heart, THANK YOU!!!

Developmental Pediatrician

On Monday, March 14th we went to see the Developmental Pediatrician for the first time.  A friend at work scheduled a meeting for me a couple months ago with one of the Developmental Nurse Practitioners (NP) that rounds in our NICU.  During this meeting the NP explained what a Developmental Pediatrician does - they take care of special needs children and would help us benchmark Sophia with children that have similar functional abilities.  This sounded like a great thing, since at Sophia's 4 month check up she only passed one of the developmental categories for her age, she failed the other five.

Our visit started with about an hour of Q&A.  The doctor asking the questions and us providing answers.  We answered questions on everything from our educational background and work, to our family and of course my pregnancy and our medical histories.  We delved deep - she definitely got all the info she needed.  Next, she examined Sophia who was asleep in her carseat.  The doctor really took her time listening to Sophia's lungs, heart & stomach.  Then she checked Sophia's muscle tone and reflexes - there has been concern that Sophia has too much muscle tone and that her reflexes are overexaggerated.  She said that she felt that her tone and reflexes are good, however when she gets angry she tenses up and then they appear to be too much.  1st bit of good news in a long time!  Then it came time to wake our sleeping beauty.  She was a trooper.  We did lots of exercises with her - trying to see if she could see certain objects and hear certain noises.  She wasn't too good at "seeing" the objects but she sure could hear the noises.

Then the doctor and Sophia got down on the floor to do some exercises.  First, she again tried to get Sophia to track objects moving in front and around her.  Then she had Sophia do tummy time to see how strong she is - Sophia was able to lift her head off the ground and push up with her forearms, we are going to keep working on getting her to fully extend her arms for a full "push-up".  Next came her assisting Sophia to roll over, to which Sophia surprised us all by rolling over twice in about 5 minutes!  I was so excited - I had never seen her do this!  Rusty and her teacher had each seen her do it once before, but never for me.  2nd bit of good news!  We followed her rolling by trying to get her to sit up.  This was more comical than anything, as she just kept falling over.  Sophia doesn't have very good trunk control right now and she gets like a limp noodle when she sits up.  We'll have to keep working on it.  Sophia does do good "baby crunches" - where she lifts her head and legs up at the same time.  Her doctor was quite pleased.

So after a 2 hour 45 minute visit with the Developmental Pediatrician, she told us that she was pleasantly surprised by Sophia.  She said that she had expected so much worse.  She said that factoring out the visual components of the testing, Sophia is about 1 month delayed in her fine motor skills and verbal development, but we will continue to work on it.  Her gross motor skills appear to be right on track!  She pledged to be here for us until Sophia is 21 years old and to help us with her development until then. She also commented on what a sweet and happy little girl Sophia is - to which we completely agreed.  We were so excited - I can honestly say that this was the first doctor's visit that Sophia has had since we found out about her Aicardi that I haven't left in tears.  I feel so positive and happy.  She really focused on Sophia's abilities and maximizing them, rather than focusing on her potential shortcomings.  I definitely look forward to her next visit in three months.

Retinal Specialist

On February 25th, we took Sophia to see a Retinal Specialist at Children's Medical Center in Dallas.  He was recommended to us by the second pediatric ophthalmologist that saw Sophia.  They wanted him to evaluate Sophia's retinas in greater detail to see if he could not only corroborate their findings, but also to see if there was anything else he would find upon examination.

We had high hopes for the visit, that we would hear good news and that he would have something new and positive to say about Sophia's condition.  Well, one of those things came true, and not the good part.  He discovered while looking at Sophia's retina that she has foveal hypoplasia.  This means that Sophia cannot see things in detail and that most likely she is color blind because the area of her eye that controls color vision did not form.  He also told us that Sophia's nystagmus (rapid eye movements) are occurring because her vision is so poor, and that this is her brain's way of trying to compensate.  However, this causes her vision to be even worse because her eyes are moving so fast, that her brain cannot keep up.  He also elaborated on the information that we already had regarding her retinal lacunae.  He said that she has 10-20 holes per eye and that he had never seen anything like it before.  This is probably the most devastating of the findings.  First, because the lacunae mean that Sophia only has "holes of vision."  It would be like looking through swiss cheese...and only being able to see out of the holes.  Second, because the severity of Aicardi seems to be directly related to the number of holes. 

He was unable to tell us what Sophia is able to see.  But he does feel that she is able to distinguish light from dark.  For instance, if Sophia is in a lit room she knows it, and if she is in a dark room she knows this too.  He thinks that best case scenario, Sophia can see shadows and possibly very large objects, but nothing in detail.  All of this only in a lit room, he thinks that due to her poor vision that she will only be able to see in well lit areas and that in dark rooms she becomes completely unable to see anything.  To be honest though, we won't know what Sophia is able to see until she is old enough to tell us.

Of course we wanted to know if there was anything that we could do to help correct her vision to which he answered, "no".  She is not a candidate for glasses, nor would she be a candidate for surgery since the nystagmus is not her primary problem.  I even asked if a stem cell transplant would be an option, to which he again answered no.  So we heard a lot of disappointing news during this appointment, without getting any real answers or solutions to her problem.  But at least he was honest - there is nothing worse than someone giving you false hope, only to later take it away.  However, I do feel like each doctor's visit that Sophia has with her specialists takes a little piece of my hope away.  A little piece of my heart breaks after each visit and it is so hard to stay positive sometimes.  But I do, because it doesn't help her to have a sad Mommy who isn't trying her darnedest to find something or someone better for her to see.

On a positive note, we have an appointment with a pediatric neuro-ophthalmologist here in Dallas on March 31st.  We have had to see 2 pediatric ophthalmologists and the retinal specialist prior to seeing him.  Its like they are all gate keepers to the great Oz.  Hopefully, Oz will have an answer for us...and not just be a little man behind the curtain.

Meet Sophia

I'm writing this blog so that everyone can keep up on the triumphs & tribulations of our angel, Sophia.  Sophia has joined our son, Andrew, as the absolute loves of our lives and has brought us so much joy in the 4 1/2 months since her birth.  Having said this, we have also had our share of ups and downs.  To be honest, we feel as though we have been on a never ending roller coaster ride over the last couple of months.  

I'll tell you about our journey so far. I had a fairly normal pregnancy with Sophia although I did have a bleed at 14 weeks which was attributed to placenta previa, which resolved.  I went on bed rest for a week and then was cleared to return to work doing a sedentary job.  I did everything I was supposed to do - ate well, took my prenatal vitamins, avoided certain foods and drinks, and even avoided lifting our son, Andrew, after the bleed.  I've never been a drinker or smoker, so that wasn't even an issue.  Everything in the pregnancy was going well for us until a routine ultrasound at 36 weeks.  My OB became concerned that Sophia's head was measuring smaller than it should for her gestational age. She sent me to my high risk OB for a confirmation ultrasound and she too confirmed that Sophia's head was smaller than normal. However, at the time both doctors told me that it was probably nothing and that she was just petite & that there wasn't anything to worry about.

Well, Sophia was born at 39 weeks & 1 day - weighing 6lbs 9oz. She looked perfect & absolutely beautiful!  We were on top of the world - God had given us a wonderful gift, a baby girl!  The first girl in our family! The pediatricians that saw Sophia noted that her head measured less than the 5th percentile. They ran some tests while we were in the hospital to test for CMV, various infections and other viruses which may have lead to her smaller than normal head.  All the tests came back negative and she passed her newborn hearing screen.  The doctors said, "she is just a petite girl" and that we would "just watch it." So, Sophia came home with us from the hospital on time and we went about our normal lives with a newborn.

At about 1 1/2 - 2 months I started noticing that Sophia had these very rapid erratic eye movements, that she couldn't focus on anything, and didn't seem to look at me when I was breastfeeding. At her 2 month checkup, her pediatrician also noticed the eye movements and told me "that's not normal." He diagnosed Sophia with nystagmus (involuntary eye movements) & microcephaly (little head) and referred us to a pediatric ophthalmologist & a neurologist.  We were able to get an appointment with a pediatric ophthalmologist the next week.  During his eye exam he noted that Sophia has retinal lacunae (holes in the retina).  He was unsure of her visual status (i.e., if she can see or not).  He gave us a preliminary diagnosis of Aicardi Syndrome and told us that she needed to have an MRI and see a neurologist as soon as possible.

Since this appointment, Sophia has had numerous tests including an MRI, CT scan, EEG, ERG and VEP test.  She has seen a neurologist, 2 ophthalmologists, her pediatrician, and we have appointments coming up with a retinal specialist, developmental pediatrician, geneticist and hopefully a neurologist who has treated some girls with Aicardi.  We have also enrolled her in the ECI program (Early Childhood Intervention).  They have committed to working with her at least once per week, sometimes multiple times a week in the areas of occupational therapy, development, vision therapy and also providing us a counselor twice a month.  They will also help us start applying for all of the programs out there which are set up to help special needs and medically fragile children.  We have a lot to learn, as this is a path that we never could have imagined going down.  


As of right now, Sophia has a tentative diagnosis of Aicardi.  She has been diagnosed with microcephaly, nystagmus, retinal lacunae & exotropia. She also appears to be blind.  All this said, we seem to really have our work cut out for us.

We would truly appreciate your continued prayers for our family.  For strength, wisdom, discernment and most importantly healing for our beautiful baby girl!  I will do my very best to update this blog weekly with Sophia's latest & greatest, including the updates from her doctor's visits and tests.

Here are some links for more information about Aicardi:

http://www.aicardisyndrome.org/site/node/1

http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm