Genetic Test Results

...yeah, we are still waiting for those.  Happy Patriot's Day!

Throw back photo of Owen in 2012

Owen's Wheelchair

Owen's wheelchair was delivered today.  Here are a few pictures of him in it.  I cannot wait to get him outside and try out the stroller frame.  So exciting!!

Front view of the High/Low Base (for indoor use)

Handsome Owen in blue.  It brings out that gorgeous red hair and he has a Nuk to match!

The High/Low base it in the full upright position.  It can also be lowered almost to the ground.  I have already put it down to Ellie's height so she can push him around the house and play with him.  She enjoys putting her snack on his tray

This is the stroller base. The seat just slides off and attaches to this  base.  Super simple and the outdoor base is rugged so we can do some off roading! 

Owen  playing in his light box from Perkins 

Busy Busy

Owen Updates

I have been pretty lazy about posting to the blog this past month.  I am not really sure where my lack of motivation comes from, but mostly I think I am waiting for something newsworthy to report.

Owen has appointments this coming Monday in Boston at Neurology, GI, and Radiology.   Owen's seizures remain uncontrolled by medication and are getting worse.  We are meeting with a new GI doctor to review Owen from mouth to tiny tush because he struggles from top to bottom.  He will have a x-ray of his hips to see if we can use a stander with him safely.  I will do my best to provide an update on the appointments next week once we learn more.

We are eagerly awaiting the WES genetic testing results in the next few weeks.  We were given a 16-week turn around time frame and that will arrive the first week of April.  I am so eager to have the results and eager to learn more about Owen and what is happening to him.  When we sent out for the testing, I had very little hope we would receive any useful information. At some point during this time period of waiting, my position has changed.  I really feel strongly that this test is going to solve the mystery of Owen's disease.  It is very difficult to be patient.

Here are a few pictures of my adorable guy:

Rocking his jeans (and genes) on Rare Disease Day

Sisterly Snuggles

Naptime with Mommy

First time at swim class- LOVED it

Two cute Irish kids

Playing in the snow

Montgomery

Otto Bock Kimba

Owen is doing well and has kept us busy the past few weeks.  We have started the process of fitting him for a wheelchair.  The past two Wednesdays, I have been lucky enough to have vendors out to our house with Owen's physical therapist to try out two different chairs.  We are choosing between the Snugseat Stingray and the Otto Bock Kimba.  If anyone who reads this blog is familiar with either one, I would love to hear some feedback! The good news is Owen looks great in both.  We need to decide which one will best fit with our family. This is a good problem and we are very excited!

Snugseat Stingray

Owen had his routine follow up with his neurologist at the end of January.  He was struggling with a cold at the time so it was great to have Karen's eyes on him during the appointment to be sure he was fine.  Fortunately, it remained just a chest cold. With some back pounding and nebulizer treatments, most of the congestion has been cleared. We basically are treading water until the genetic testing is back in April.  Hopeful for answers to our mystery man.  Until then we continue to let Owen steer the ship on this journey.

I titled this blog post, Montgomery, because this is the name of a beautiful little boy who lost his battle with Metachromatic Leukodystrophy on Sunday night.  Gummy and his mom, Cindy, were two of the first people I met after Owen was diagnosed in 2011.  Cindy reached out to me through this blog and facebook. She has provided me with resources, support, and a glimpse into her life. She also writes a blog, mymldface.blogspot.com, for anyone who would like to know more about her family's journey with leukodystrophy.

I have taken Gummy's passing very hard and I know it is because he is a glimpse into the future and a reminder of the journey we are on with Owen. My little guy is doing so well right now and I am so in love with him. I just cannot believe that one day too soon he is going to be taken away from me.  Gummy had a beautiful life filled with a loving family, but his disease was terrible.  It is painful and it stole from him daily. I know he is in Heaven running and playing with his friends and being joyously pain-free.  He was released from the awfulness of his disease, but he has left behind many people who love and miss him.

Gummy always wore great shirts with powerful messages.  In honor of him, Owen is wearing his best t-shirts this week.  Cindy has inspired me to help Owen find his voice like Gummy did.  Fly high sweet Gummy!

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.