Vision Test

As I have mentioned in previous posts, we are unclear what Owen's exact vision status is, but based on simple observation, we know it is very limited.  He is seen once a week by an excellent vision teacher from The Perkins School for the Blind.  Rose has provided us with many wonderful ideas on how to maximize the little vision he may have and how to explore his world by using his other senses.

Last Spring, Rose suggested we have a vision test called Visual Evoked Potential (VEP) performed on Owen. This would allow us to have a better understanding of what he can see.  Owen's eyes were tested when he was hospitalized as a two month old and structurally they are fine.  We know this is a problem with the brain and how it is processing the input it receives from the eyes- cortical vision impairment.  There are small clues Owen give us occasionally that make us question whether he might have a small bit of vision.  Our assumption is he can see brightness- for example, if he is in a dark room and you turn on a bright light, he might squint his eyes.

To clear up the guessing game, I made an appointment at Children's Hospital Boston with a highly recommended Ophthalmologist to have Owen undergo a VEP test.  This test is done by placing electrodes on Owen's head and then recording the signals they receive as different lights and patterns are flashed at him.  The results are then interpreted by the doctor.  It would give us an idea of how much information his brain is receiving from each eye.

It took six months to wait for the test, but his appointment finally arrived this past Wednesday.  Finally, we were going to have some concrete information about Owen.  This test was one that would actually provide us with results as opposed to the numerous question marks we are often left with after testing Owen.   Eager for information would be a mild way of describing how Pete and I felt in anticipation of this appointment.

In my last post, I discussed our attempt to wean Owen off one of his medications.  Clearly, it wasn't going well and we had to change the way we were weaning him.  His manic behavior - as described in our outing to the library- was actually withdrawal symptoms.  We have adjusted the dosing and he has stabilized.  This is a good thing, but he is back to sleeping a lot- and that is what he decided to do during his VEP test.  I could not wake this child for the life of me.  I undressed him, I placed a cold cloth on his head, I changed his diaper, I put an ice cold bottle on his bare toes, I passed him off to strangers to hold him awkwardly, I put him down on a hard surface with nothing cushy around him.... I did everything I could short of hurting him to try to wake him up.

After more than an hour, I had to give up hope that we were going to do the test.  Instead, the doctor dilated his eyes and performed a routine eye exam.  During this exam, it was noted that his retinas are slightly abnormal.  They are thinner then normal and also discolored.  This made the doctor want to perform an Electroetinogram (ERG).  This procedure is usually done under anesthesia since it requires children to have contact lens-like electrodes placed on their eyes.  Given how sleepy Owen was, the doctor thought it might be possible to perform the test without sedating him.  We scheduled it for the next day.  Owen behaved appropriately and did complete this test.

The main reason the ERG test is important is because it might be a clue to Owen's disease.  There are some white matter brain diseases that also include damage to the retina.  By having a clear understanding of how Owen's retinas are functioning it could possibly be a marker for his disease and narrow the focus for his geneticist and neurologist.  We will get the report in about 10 days.  I left with the impression that Owen's retinas are abnormal, but not significant enough to play a major role in his disease.

It was a stressful two days spent at the hospital and we left with no new information...sound familiar? I dream of the day a doctor will sit us down and make a definitive statement about Owen that will give us an answer to the many questions we have about our little guy.  The unknowns are very frustrating and discouraging.

After the exhausting medication withdrawal week, Owen has been doing well.  He managed to visit a park and listen to Ellie play, he took a nap in his stroller at the neighbor's house while Ellie played with friends, he joined us for our daily trek over to another neighbor's house to feed the horse, goat, and puppy, and today he is going to help Ellie and his dad carve a pumpkin.  I am eager to see what Owen thinks about the way the inside of a pumpkin feels!

Here is a picture of Owen sleeping in bed this morning.  By the blanket you will see a toy onion that Ellie gave to him.  We often discover, after picking him up, a toy placed next to him from his sister.  When I asked Ellie about the onion, she told me that she had cooked Owen eggs for breakfast.  She is a pretty awesome big sister! 

A Roller Coaster Ride

For the past two months I have been struggling to write and update this blog.  I think about doing it many times a day, but I just can't come up with subject matter I want to write about.  The problem is, I feel as if  Owen has peaked and is now heading in a direction I don't like.  This summer was Owen's time to shine.  He was an active member of our family and some of the sadness in our hearts was lifted.  Unfortunately, since August, we have been on the decline.  I blame those terrible Infantile Spasms.

The past three weeks have been trying. Owen had a cold which quickly progressed to pneumonia.  It only took a week of antibiotics to clear his lungs again, but I feel like it is a foreshadowing of what lies ahead for our little guy.  Last February, when he had a cold that earned him a ride on Hospice, it never once moved into his lungs.  He coughed his hearty old man cough (something you need to hear to truly appreciate) and kept himself going.  With his cold this time, he was listless and weaker.

This moves us to the next bump in the road we are trying to hurdle.  Owen sleeps a tremendous amount.  For the past week, we have been working to slowly wean some of his medications to see if we can get him to wake up.  Peace and comfort are our goals, but if we can achieve them with Owen awake and responsive then that is our first choice.  So far, we have only had a tiny bit of success.  He is more alert, but it isn't necessarily a positive change.  His alertness brings back arching, restlessness, constant spit and drool, and repetitive stiffening of his body.  We also see times of calmness, cooing, and a look on his face of what we are calling 'pre-smile'.  We want more of the second and less of the first.

Here is a compare and contrast look of last week, when Owen was at his full dose of medications, and this week, when we have weaned him on one medication by 5%.

Last Week:  Owen and I headed to the library.  I picked him up off his mat where he was happily sleeping on his tummy and carried him to the car.  He stirred while I put him in his car seat, but was conked out again before I even drove out of the garage.  At the library, he opened his eyes as I moved him from his car seat into his stroller, but went right back to sleep.  I went in the building, returned books, and browsed for new ones for about fifteen minutes.  Owen slept the entire time.  Then we left, he slept, and continued to sleep through the reverse transfers until he was placed gently back on his tummy on his mat in our living room.

Today:  In my never ending quest to be 'normal', I took Ellie and Owen to story time at the library on this dreary, rainy day.  Owen was pretty calm and peaceful this morning so I thought it would be a manageable adventure.  We had to go to the library one town over because Amesbury Public Library has their Children's Room on the second floor of the library and is not handicap accessible.  Nice thinking Amesbury Public Library.  Owen was awake and chatty on the ride over and amiable as I unloaded him from the car to the stroller.  No automatic doors at this library, so I struggled through two sets of doors with an eager toddler, stroller carrying Owen, purse and library bag.   During the story time and following craft, Owen hung in his stroller with a couple of tactile toys.  He wasn't happy, but also wasn't unhappy.  Just hovering a hair shy of distressed the whole time.  Owen lost it after about twenty minutes.  I was in the middle of picking out books with Ellie and the screaming started.  By this time, Owen was drenched from neck to tummy with spit and drool.  I took him out of the stroller and gave him some medications while Ellie did a few puzzles.  I offered a bottle, refused.  Pacifier, refused. It was quickly apparent we needed to go, so I gathered our stuff and returned him to the stroller.  The breath-holding screams started, he was choking on spit, and had a little bit of blood in his mouth from biting his tongue or cheek.  Amid stares, we exited the library into the pouring rain.  I spent the entirety of the car ride home listening to Owen scream, fall silent as he gagged, and then scream again.  I pulled a bloodied (he scratched his skin by his eye in a fit of rage), vomit covered, furious little boy from his car seat ten minutes later.

Is there no such thing as a happy medium in our life?

Updates

We have been busy the past few weeks since Owen's birthday.  With Fall descending upon us, I have been bitten by the crafting/decorating bug.  Pumpkins bought, mums planted, and felt Trick-or-Treat bags are being sewn.  Sprinkled in between all of this fun are regular day-to-day duties that come with being Ellie and Owen's mom.  Here is what we have been up to:

Let's start with Ellie- my very busy two year old decided to eat a quarter, nickel, and penny.  This earned her a quick drive to Anna Jaques Emergency Room, which then earned her an ambulance ride to Children's Hospital Boston, which then earned her surgery to extract the quarter from her esophagus.    The nickel came out on my rug while doing the Heimlich maneuver and the penny eventually exited her body naturally.  Sigh.  Here is her xray:

 A few days later, Owen and I had the pleasure of going to Perkins School for the Blind to have him fit for a custom chair.  We brought Christine, Owen's occupational therapist, with us for the trip.  He looks fantastic in his chair- they had some models made and we put him in those, and then modified the position and angle to properly support him.  These chairs are made out of corrugated cardboard, then painted (Owen chose a blue chair with dinosaur), and given to the family.  Each chair comes with a matching table to use for sensory activities.  The chairs are made by volunteers and the supplies are donated.  Amazing stuff- we are very thankful!  We got to meet a few of the men who were crafting the chairs- I envision them to be retired engineers who like to keep busy- what an awesome way to keep active and do good things for people!

After Perkins, we headed over to Babies R Us to try out some convertible car seats. Owen outgrew his bucket car seat a few months ago in length, but still is under the weight requirement.  It has been a topic of conversation for awhile about how to safely transport him in the car given his low tone and lack of head control.  Christine and I plopped Owen in every seat in the store- about 20, I think.  For those of you who haven't car seat shopped recently, they run from about $100 to $350 plus.  I suggested we stick to the $150-$200 range and Christine obliged.  Guess which one we bought?  Yup, the most expensive one in the store.  Toward the end of the shopping spree, I suggested we just try Owen in the expensive one for comparison.  My little boy has Mercedes taste and immediately kicked his arm out on to the arm rest, snuggled in, and let his momma know this was the seat for him.  Here is my guy happily enthroned in his new chair.  Only the best for Owen:

The highlight of the first week of September was a visit from Jenny and George!  Jenny is an awesome friend- I suggest everyone have a Jenny in their life -but not my Jenny because I don't want to share her.  We became friends while living in Minnesota and our friendship has continued to grow over the years as she and her family returned to their home state of Oklahoma and Pete and I returned to Massachusetts.  Her son, Silas, was born three days after Ellie and they are destined to wed some day (I hope...).  Jenny has been a huge source of support this past year - and she is a clinical psychologist- so she knows what she is doing.  Her visit included a trip to Rockport, hanging with the kids (she brought her 7 month old son, George, who is an adorable little mood booster wrapped in a compact little package), and lots of good food.  It was amazing to have her just pop in for a weekend.  We will be heading out to visit her and the rest of her family at the end of October.  We are very excited!  Here are a couple pictures of the visit:

Ellie and George making and eating music

George and Owen

Unfortunately, the day that Jenny and George left, Owen and I had to head into the hospital for another EEG.  Owen has been doing something we labeled "the typewriter" since the end of July.  At first, it was very subtle and we didn't put a lot of thought into it.  Each week, the slight jump his body would make became more and more exaggerated.  We noticed it occurring when Owen was waking up and this repetitive movement could last for ten minutes a few times a day.  One of Owen's therapists suggested it was a form of seizure so we videotaped it and emailed it to his neurologist.  The EEG showed that Owen is having a seizure called Infantile Spasms.  Here is how the National Institute of Neurological Disordered and Stroke defines this seizure:

An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.

 
This is not great news for Owen.  The positive about this seizure is we can actually do something about it.  Owen is on a medicine which should work to permanently stop the seizures.  It feels amazing to finally have something we can work toward fixing as opposed to just trying to maintain quality of life.  

This past weekend, we made our annual trek to Cider Hill Farm for apple picking and cider donuts.  Yum, Yum, and Yum.  Fall has arrived!

September 2010

September 2011

September 2012

One Year Strong

 On Monday, we had the amazing opportunity to celebrate Owen's first birthday.  I am so grateful for my baby boy.  Six months ago, Owen was on hospice and I held very little hope that he would still be with us for his birthday.  Owen continues to be a mystery, an amazing little puzzle who brings sweetness, joy, and love to our life.  He was born in the midst of a hurricane and his first year of life was a symbolic extension of that storm.  This past Monday was a beautiful, sunny, warm day and I pray that this next year will be an equally bright journey for Owen.

Owen- August 27, 2011

Owen- August 27. 2012

The cake Ellie decorated for Owen

A very happy family 

Welcome to the party!  Owen rang in turning ONE with a pool party at his Mammie and Bankie's house

The cake Mommy made and Daddy decorated for Owen

Ellie enjoying a cupcake

Me and my boy on an amazing day

Happy Birthday Owen! We LOVE you!

Owen's birthday was wonderful milestone for us (yes, a milestone! Check it off the list).  To mark the day, to celebrate all of the challenges, heartache, struggle, hope, love, and faith our family has gone through these past twelve months, we planted a tree for Owen.  My mother-in-law chose a Dwarf Alberta Blue Spruce- selected with Owen's beautiful blue eyes in mind.  We planted the tree in their front yard, near the Black-eyed Susan, which returns each August with their happy flowers in full bloom. 

Owen's tree

Our family has been touched by many people this past year who have offered us help and support.  For months, we had meals delivered from our church and there was a steady stream of people providing loving arms to comfort Owen.  We have been blessed to collect many new friends and we are so thankful for the support.  Owen has an amazing ability to connect with people.  His long eyelashes draw you in and his red hair (with curls emerging) is quite adorable.  During this past month, I gifted a few special people, "Owen's Ladies" as I call them, with their own Black-eyed Susan to plant in celebration of Owen's life and their role in it.  If you are a reader of the blog and have a green thumb, plant some in honor of Owen.  These beautiful flowers are strong, a perennial- they will come back every year, and bloom during Owen's birthday month. 

Here is what they look like- Rudbeckia is their scientific name

It was a great day, a special birthday party, and a reminder of what an amazing family Owen was born into.  It was also Pete's birthday.  For the second year in a row, Owen has completely monopolized the day.  I hope that happens for many more years to come (sorry Pete!).  

My delicious baby when he was a few weeks old
Happy Birthday Owen! 

Let Me Tell You a Story....

Let me tell you a story of an adorable little boy who loves to keep his mommy on her toes. One day last week, Owen decided to spend his afternoon in one of his "hold me and never put me down" moods.  Owen always wins these battles and I held him while entertaining a two year old.  Exhausting is a word that comes to mind.

I eventually came to a task that required two hands and with a stern talking to, I plopped Owen into his nap nanny for a minute.  I assured him it would only be a minute and that I would be right back.  In a weak effort to entertain him, I placed Ellie's baby doll on his lap for him to explore.  Off I went- and I did just as I said- and returned in a minute or so.  My little guy was very busy while I was gone.

Due to Owen's limited or lack of vision (we will know more concretely in October after his vision exams), we always provide him with tactile things to explore when he is on his own.  With the help of his teacher, Rose, we made a toy bar out of PVC pipe which can straddle his nap nanny and we can hook toys to it.  When not in use, I put the bar behind the bed up by his head.

While I was off completing my task, Owen reached above his head and yanked his toy bar forward so that he could play with it.  For me, this was an amazing moment.  Owen demonstrated purposeful movement- he wanted his toys and was able to coordinate his arms and hands to get what he wanted. Go Owen!  Here is a picture I took of my little turkey with his toys:

In moving on news... we have taken apart Owen's crib.  Ellie was just six months old when I got pregnant with Owen.  We quickly realized we would need a second crib because Ellie was going to be too young to be in a bed when baby #2 arrived.  We moved Ellie across the hall and decorated her room in little girl colors, owls, and butterflies.  It was so much fun. We did not find out the gender of Ellie or Owen before they were born, so we had a very cute, gender neutral nursery awaiting our  new baby.  In his first year of life, Owen has spent no more than a total of an hour in his crib- not consecutive.

Owen currently sleeps on a beanbag his OT has loaned our family.  Or in our arms.  There are so many little things that fill me with sadness about what I am missing out on with Owen.  I stress the "I" because this is about me, not Owen.  Owen is living a great life in his world right now.  He seems very content and peaceful.  I love every little piece of him and as long as he is happy then that is the best I can hope for. 

Not a day goes by that I am not reminded of what we aren't doing with Owen.  Whether it is friends, co-workers, or strangers on the street, I am reminded daily of the milestones we aren't hitting.  There are no moments of watching Owen sit up,  roll over, slurp baby food off of a spoon, pull himself up on his feet, belly laughs when we make faces at him, babbles, or peaceful sleeping in his crib.  It is a heartbreaking journey for a mother.  

The crib is going into storage.  Along with lots of baby clothes.  I just can't give up hope that maybe someday Ellie and Owen will get to have another little sibling to play with.  I think Owen would make a great big brother and Ellie has already proven her merits as a big sister.  Maybe we will figure Owen out and have another baby, maybe we will adopt, or maybe there will never be more children.  I guess I am just not ready to give up the dream.  In the meantime, Owen has won again...the crib is gone and in its place is a beanbag with a snazzy dinosaur blanket. 

The Way Life Should Be

Ah vacation...in Maine...is there a better way to spend a week in July? Here is what we did:

Ellie helping Owen cheer about leaving on vacation

At York's Wild Kingdom

Ellie trying to pet the ducks at the zoo

Owen being his silly self at the zoo

Slide races

Riding the trolley and waving at everyone we see

Beach time with my favorite guy

A happy moment

When you see a hole...jump in! 

Lilly and Ellie- lifeguards in training

Lilly and Owen having some snuggle time

Owen LOVES vacation

Laundry baskets provide excellent entertainment

Pure joy

Sharing the sea breeze

Nightly ice cream cone and walk on the beach

Snoozing on the beach

Sharing the blanket with Auntie Kym, Auntie Lin, and cousin Jill

Vacation wouldn't be complete without a bouncy house

Driving a boat 

Riding by herself- such an independent little girl!

We had the best time on this trip.  We visited the zoo, went to the playground every day, rode the trolley many, many times, ate almost zero veggies the whole trip (someone tried to feed us broccoli one night), and hit up an amusement park.

The best part of our trip was spending it with our family.  Owen is checking things off his bucket list and there are many more adventures ahead for us.  It was a great week- and we are a pretty lucky family!  Thank you Mammie, Bankie, Auntie Kym, Jill, Andrew, Gerry, Kelly, Lilly, Connor, Auntie Lin, and of course...Uncle Fluffy- we love you guys and we had a blast!  Thanks for helping us make some wonderful memories!  XO

Moving On...

The past two weeks have been pretty rocky in our house.  There have been some highs (the Duncans came for a 10 day visit!) and some lows (read on...they will be listed in detail).  The first low arrived on July 3rd.  Owen does not have Smith Lemli Opitz (the cholesterol disease).  I took this news pretty hard even though I never truly thought he had it.  This disease represented the final hope for Owen in my mind.  It is not a life limiting disease and while there isn't a cure for it, there is treatment.  We would have been able to modify Owen's cholesterol levels to bring him to the appropriate balance.  Who knows what this would allow my boy to achieve.

It also pretty firmly closes the door on my hope of having another child some day.  As I have mentioned in previous blogs, there is a 1 in 4 chance with every child Pete and I conceive they could end up like Owen.  That is a risk Pete and I would never take.  It comes down to: if we know what is wrong with Owen= more kids.  If we never get a diagnosis= no more kids.  We are pretty firmly entrenched in the no diagnosis category at this point.  If we do another sedating procedure in the future (an MRI), we will allow the doctors to draw Owen's blood for more cholesterol testing.  There are a few tremendously rare cholesterol diseases that Owen's geneticist feels would be worth eliminating, but it requires a blood draw from Owen.  Owen does not part with his blood easily, and since none of these diseases have any kind of treatment, we are opting to wait.  Owen has enough discomfort in his life.

Before this post gets to be too much of a bummer, I will mention the high of the past few weeks.  Kevin and Carrie (my cousin and her husband, aka Ellie's Godparents) arrived at the end of June for a visit.  They provided us with support, love, comic relief, distraction, and happiness.  We went to the beach, into Boston, a beer fest, the park, and had a lovely dinner out- as just adults -thanks to the wonderful babysitting skills of Pete's aunts and another fabulous cousin.  Here are a couple pictures of the fun we had:

Happy 4th of July

Ellie and I playing in the fountain on the Greenway in Boston

Ellie driving a Duck Boat

As the Duncan's prepared to head back to Minnesota, Owen decided to start another one of his hunger strikes.  This one lasted a week and was pretty frightening.  He hasn't done this since March, so it came a bit out of the blue.  He had no interest in eating, slept a lot, and moved rapidly down the Quality of Life scale I am always measuring him against.  As quickly as the strike arrived, it departed.  For the past two days, Owen has been slamming back bottles like a champ and is back up to his regular intake.

We are not sure what is going on with our little guy at the moment.  His appetite has returned, but his irritability is also at an all time high.  We are still seeing seizures and they are lasting longer and longer. Pete thinks we are witnessing signs of progression of Owen's disease.  I am not as convinced.  I anticipated progression to mean something more tangible- like Owen losing his ability to swallow or to start aspirating his formula. Pete says the doctors mentioned this to us back in November when he was first diagnosed.  Those days are a bit of a blur to me so who knows what selective memories I chose to store and what ones I chose to disregard.  Either way, we will be bringing Owen into Boston sometime this week to see his team of doctors.  Progression or no progression -it doesn't really matter to me- quality of life is what is important and at the moment it is pretty low for Owen.

With that said, he had a great night last night.  He truly is a mystery.  What a turkey!