VEP and Eye Exam

Owen had his second attempt at his visual evoked potential (VEP) test yesterday at Children's Hospital in Boston.  We attempted this test a few months ago, but Owen refused to wake up for it and therefore it could not be completed.  Thankfully, Owen decided to cooperate yesterday and was awake and alert for his entire eye appointment.  This tests consists of electrodes placed on Owen's head and then he looks at a screen of black and white moving lines.  The goal is to evaluate the visual pathways to the brain.  The moving pattern Owen looks at creates electrical activity in the brain which is then measured by the electrodes.

Owen has 20/150 vision.  This means that if someone with normal vision can see something 150 ft away, Owen has to stand 20 ft from the same object before he can see it.  Owen has earned himself a certificate for being legally blind! Actually, this is really encouraging because there was visual response- there could have been nothing.  This test has confirmed what we thought- Owen has some level of vision, but it is not good.  Also, this test does not tell us how he is interpreting the information his brain receives from his eyes.  Based on Mommy Instinct, I would say that Owen has the ability to see drastic variants in light and dark.  He prefers bright lights that move.  He does not gaze lovingly at my face and register that he is looking at me.  This last bit is fine because I know, for sure, that he knows his Mommy (must be that he can smell me!).

Owen does not need glasses- he is neither nearsighted nor farsighted.  I was a bit surprised when the doctor told me this.  I didn't think evaluating Owen for glasses was even on the table! Either way, he doesn't have a visual impairment that requires them so it is a moot point.

The past week with Owen has been going great.  He is very much awake and alert.  He is very tolerant of being on his own and exploring his toys.  It is wonderful to see my guy in such a great place.  The month of December was wrought with sleepiness and sickness.  Owen has fully recovered from his RSV and his breathing sounds great.  Still hates his car seat, but that is another issue for another day.

Pete and I are very excited about the VEP results.  His vision might be very low, but there is something there!  We now can really focus on providing him with visual opportunities without constantly wondering is he is actually responding or just randomly turning his head or body.  He really loved looking at our Christmas tree- I might just have to put one up year round! 

RSV and Christmas Don't Mix

Owen started out the holiday season with Thanksgiving on such a high, we had nowhere to go but down.  He was so happy that day, alert and calm, satisfied in someone's arms or by himself in an chair.  It filled me with such happiness to get to have another year of holiday memories with my guy.  Then December hit and things started to slide in the wrong direction.  By the time we got to the week before Christmas, Owen was sleeping the entire day away and causing lots of concern for his mom and dad.  Then he started to get a temp which lasted a few days, and he wasn't going potty or eating (those go hand in hand, but alarming when we are talking about 26 hours with a dry diaper).   On Christmas Eve, I brought Owen into the pediatrician.

After an exam and test we learned he had RSV.  The doctor wanted Owen brought down to Boston immediately to be admitted.  With heavy hearts, Pete and I packed up our bags and made plans for Ellie to be picked up by family to attend the parties we would be missing.  On the drive down, I prayed over and over that somehow Karen would be able to work her magic and keep him out of the hospital.  Owen's oxygen levels were low and he clearly looked like he wasn't feeling good, but he didn't look like he was struggling to breathe any more then he usually does.

Our time in the ER was spent with the doctors and Karen.  She did work her magic- really she is a bit of a rock star and I am not sure how we managed to get her on our team- we are very lucky.  There is no doubt he would have been admitted if she wasn't there to assure the ER doctors what he would be okay.  It was a bit of a risk and I am sure the fact that it was Christmas Eve played a role in deciding to send him home.  We also felt he was on about day five of the illness so most likely the worst part was over.  We were under strict instructions to bring him back if he got worse, but otherwise after some oxygen and Albuterol treatments we got to bring Owen back home with us.

The positive is we didn't have to spend Christmas in the hospital with Owen.  The negative is we didn't get to spend Christmas with Owen.  He was too sick and contagious to bring to the family parties.  Pete, Ellie, and I went to three parties on our own while Owen stayed home with my mom (who was also sick).  I felt a bit like I was experiencing a preview of Christmas Future.  Ellie provided joy, hilarity, and distraction, but there was a gaping hole wherever we went.  I wanted Owen with us.  While going through the motions, a portion of my brain was worrying and praying for Owen.  Was he getting better or worse? When you have a medically fragile child with a life limiting diagnosis it is impossible to not panic each time they get ill.  Will this be the beginning of the end?  Is he going to pull through? So far, Owen has been sick many times and he always pulls through.  But one day he isn't going to.

The other day I read a comment by, no doubt, a very wise Facebook user.  They said, "Given the opportunity to walk in another's shoes, most people will still gladly choose their own." That has been rolling through my head over the past few days.  All around me I have seen, first hand or through pictures, happy healthy children and their parents spending time together creating happy memories.  When I stop to take a moment to wallow in the disappointment I feel about not having Owen with us this Christmas, I can't help but think of some of the other families who are experiencing a far greater sadness then I am right now.  Owen was home sick, I missed him, but his sweet little body was was waiting for me when we arrived home.  I can hear him snoring in the next room as I type this blog post.  I can think of a lot of people who aren't quite as fortunate as I am right now.

Here is to next year and all the bonus days I will get to spend with Owen in 2013!

Owen and his gal Barbie (courtesy of Ellie)

A Christmas Angel

PS- his oxygen levels are back up.  The breathing is still a struggle and he is still clearly sick, but I believe we have avoided the dreaded hospital for the near future.

MRI Number Four

Yesterday was Owen's MRI appointment in Boston.  The plan was the same as his past MRI's.  He would head to the PICU for Propofol sedation administered by Karen and Alice, once sedated they would perform the MRI, and then there were a couple of pokes and punches to be done for testing.  Unfortunately, we were unable to complete the MRI yesterday.

Owen has started to have trouble maintaining his airway.  If you listen to him breathe, it sounds like his chest is very congested and he needs to just clear his throat.  The noise is actually caused by lack of muscle tone in his soft palate.  For now, he is able to maintain good oxygen levels, but what this means for his future is a little murky.  Once Owen was sedated, the trouble he has with his airway became exacerbated and he needed support to breathe.  If this were a different procedure, like a CT Scan, where Karen could be next to him and help him, it would not have been a problem.  Unfortunately, Karen has to manage Owen from afar when he is in the MRI machine.  It just wouldn't work.

Our option now for an MRI is for him to undergo general anesthesia.  There will be some discussion with Owen's team and the anesthesiologist about this, but we are probably going to wait.  Owen did give us some blood and urine while sedated and we also did another skin biopsy.  Pete and I gave blood yesterday and the WES genetic testing has been sent out.  At this point, I think we will probably wait for those results and then make a decision about another MRI under general anesthesia.

We are disappointed.  We are concerned about what the airway issue means in the large picture.  It is a setback, but we still have our sweet, beautiful boy home with us.

Owen Updates

November was a busy month for our guy.  Here is a sweet Saturday morning picture of my favorite people.

For the record, Ellie long ago gave up her Nuk, but manages to borrow Owen's occasionally.  The sleeping arrangement in our house is a bit atypical, but it works for our family for the moment.  Owen now has his bean bag bed in the playroom, which at one point was our dining room.  Next to his bean bag is a twin bed (which will eventually be Ellie's).  Pete sleeps in the bed next to Owen.  As this picture illustrates, Owen spends a lot of his 'sleeping time' awake.  I wake up often in the middle of the night to hear my pterodactyl-boy squawking away downstairs as Pete snoozes happily away next to him.  Owen and I are not compatible sleepers, but he and his dad seem to manage just fine.  Owen still gets up in the middle of the night for a bottle and some medication, but the nights of endless screaming seem to be behind us.

Owen's night sleep pattern is a bit disjointed, but often his days are now passed sleeping soundly.  The infantile spasms Owen was diagnosed with in September have not been controlled by medication.  He continues to have them many times a day and Owen's neurologist believes this is the explanation for the added sleepiness.  If you are not familiar with what infantile spasms are, here is a link about these terrible seizures: Infantile Spasms .  We are very discouraged that we cannot adequately control these seizures, but we also understand this is a progression of Owen's disease.

Owen will be undergoing another MRI in December.  We are always eager for these to take place because it is the only test that has provided us with a nugget of information about our son.  Owen's last MRI was at the beginning of May.  This one will be compared to his three prior MRIs and hopefully a bit of understanding about the progression of the disease will be ascertained.  Owen's 'team' will be assembled for the MRI.  Karen will be administering the sedation along with Alice, Owen's favorite nurse, who is an expert at finding his elusive veins on a single poke.  Owen's neuro-radiologist will read the MRI and consult with Owen's neurologist. I cannot remember the name of the neuro-radiologist, but he is the same doctor who read Owen's prior MRIs.  He has sent them all over the country to colleagues hoping to find an answer to what is happening to our little guy.  It is comforting to know how many people we have committed to helping find answers for Owen.

On the day of the MRI, Pete and I will be getting blood drawn.  We have decided to move forward with genetic testing and are very excited about it.  We are hopeful it with provide a diagnosis, but also realize that might never happen.  At the very least, it may shed light on what gene or genes have caused all of this trouble.  We are hopeful it will give us answers for Ellie and also the possibility to have more children in the future. The testing is called whole exome sequencing.  It is very new- only available to the public for a little over a year.  Here is the link to Baylor College of Medicine where the test will be done.  It explains the science behind the test much better then I would ever attempt to paraphrase: Whole Exome Sequencing .  This test takes about 4-5 months for results.  Stay tuned to May 2013 for more information!

We also had family pictures done in November.  Since Ellie was born, we have done pictures every Fall.  Last year, we had our pictures taken at our house one week before Owen was diagnosed.  Those pictures will always be amazingly important to me because they captured our family in a very innocent and happy time.  Unfortunately, Owen was not in a good place the day we had pictures done this year.  We chose to use the same photographer who took pictures last winter with the Tiny Sparrow Foundation.  She did such an amazing job capturing the beauty of our little boy then, and we knew she would be able to rise the challenge again.  Jill is a very talented photographer; although Owen was irritable and his body was arching, she managed to capture some beautiful shots of him and our family.  If you live in Massachusetts and need a photographer, I would highly recommend her!  Here is a quick preview: Family Pictures with Jill Serrano

To wrap up our month, we headed to Mammie and Bankie's house for Thanksgiving.  The holiday season last year was one filled with conflicting emotions.  It was a seasons of firsts for Owen, but we also felt strongly it was a season of lasts.  It was very difficult to feel any joy.  This year, and hopefully years to come, feel like a bonus.  I want to soak up as many memories with my guy as possible.  Owen woke up on Thanksgiving morning in a wonderful mood.  He was alert and calm the whole day.  Owen joined us at the table for dinner and sampled some of Mammie's gravy on his Nuk, he visited with neighbors and tested out their armchair with delight, and he nuzzled himself into the willing arms of many aunts, cousins, and grandparents. It was a great day.

November 3rd

Happy Birthday, Dad!  November 3, 2012 arrived last weekend, which is means it has been exactly one year since Pete and I were given the news that our son has a progressive brain disease.  I have spent the last two months since Owen's birthday playing a mental game of, "This time last year..."  This time last year, I gave birth to a beautiful baby boy amid Hurricane Irene.  This time last year, we took our four-day-old son to dinner with us because he was such an easy baby.  This time last year, Owen started screaming and wouldn't stop.  This time last year, I was researching GI discomfort in babies convinced that Owen must have an ulcer.  This time last year, Owen's nurse practitioner told me at his two month appointment, "His head measures a bit small, let's refer him to a neurologist and have them laugh you out of the office because there is nothing wrong."  This time last year, Owen's neurology appointment lasted ten minutes and he was admitted to the hospital.  This time last year, Owen's doctors told us our baby boy wasn't going to live a complete life.  This time last year was November 3, 2011.

We chose to mark this November 3rd far away from our home.  We flew to Oklahoma to spend time with our great friends, the Potters.  Jenny has served as one of the most supportive people in my life as we have traveled this journey with Owen.  I knew this was going to be a very difficult day for me, and it was.  Being in a house with four adults, two toddlers, a 10-month old, and Owen, provided me with a lot of distraction.  This is exactly what I wanted and needed.  November 3rd will always be a painful day for me, but as long as I have my little guy by my side, life is good.

Owen is doing great lately.  He is calm, awake, and delicious.  He has turned into a complete plumpster guzzling bottles down every couple of hours.  Marking the day with such a healthy looking guy made it much easier.  I often marvel that Owen is one of the healthiest, sick little babies around.  There are no wires, tubes, or suctions attached to his body.  He eats on his own and he breathes on his own.  Yes, there is a tremendous amount of medication coursing through his body, but in our goals of comfort and quality of life, it seems like we are winning right now.  To recognize the day, and to mark how far we have traveled over the past year, Jenny and I ran a 5k wearing t-shirts Pete made for us.

The shirts say, "One Year Strong, Peace, Hope, Answers." Each one has our name on it.  This is a Pete Marshall original design and I love it! At some point in the future we will do a fundraiser for Owen and I know there will be a lot of takers for an Owen shirt! :)

Our visit to Oklahoma started on Halloween- we made it out of Logan airport without a hitch.  There were no hassles with TSA and all of Owen's medications, there were no delays because of Hurricane Sandy, and there were no toddler meltdowns!  Owen slept through all of the flights and was a fantastic traveler.  Here are some pictures of the fun we had on our adventure West:

At the airport wearing their Halloween shirts courtesy of Mammie.  Adorable!

Cutest Pumpkin in the Patch- another Mammie shirt...equally as cute!

Owen and Mickey Mouse about to go Trick or Treating

Silas and Ellie rowing a boat in the
Myriad Gardens in Oklahoma City

Two friends sitting on a porch

Smooches and fresh tortillas- life is good
Margarita for mom (yum)

Owen sleeping in like a teenager

True love

While Silas sleeps... fun will be had!  George and Ellie take over the Island of Sodor...

Owen and George- moments before this picture was captured they were holding hands.
Love those two boys!

Owen's Chair

After waiting a very short six weeks or so, it has arrived!  Here is my guy sitting up for the first time in his custom-fit chair!

There are supports holding Owen in place that wrap around his torso and also over the shoulders.  If you compare this picture to the one below, you will see we removed a layer of the foot pad.  This chair is fashioned to grow with Owen.  These things are seriously AWESOME!!  Also, he doesn't need the foot straps so we will remove those...

Ellie is an amazing big sister!  She was so excited to see her "buddy" sitting up in his chair.  She even attempted to strap him in- I had to suggest she let Rose do it the first time :)  2 going on 20...

His chair also comes with a custom made desk painted with dinosaurs!  Hours of play are ahead! 

In other news...the Patriots heard about Owen and sent him and Ellie a care package.  There was a lot of neat stuff in it and Ellie was thrilled!  She is a pretty big Pats fan- especially Gronk!  I think Owen might be more of a Vikings guy....

A new favorite picture.  No one is paying attention to Mommy, who is trying to capture a sweet family picture.   Love these kiddos!

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!