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! 

I Won't Give Up

Have you heard the song, "I Won't Give Up", by Jason Mraz?  I think he wrote it for me and Owen.  I haven't completely lost my mind, I do realize it is intended as a love song, but with just a few simple tweaks of wording, it could easily be my ode to Owen.  Listen to it- I challenge you not to tear up.

Over the past few days, that is the mantra in our house.  Owen is just a roller coaster.  He has had a string of days with his typical irritability.  It is exhausting.  We are exhausted. Sometimes I wonder if he is being as bad as we think he is, or if our tolerance is just so skewed after 10 months of screaming, that we have nothing left to give.  When he starts up, Pete and I just look at each other like, "You take him? What, it is my turn? Oh Owen..." Compound this with how sorry we feel for him...why has he been dealt such a terrible journey?  When is it going to end?

We have successfully captured some of his irritability and I would say his quality of life is tremendously improved since last Fall, but there is still tremendous room for it to get better.  He remains at the developmental state of approximately a 1 month old.  He continues to have seizures.  The positives are: we have seen smiles and even, when vigorously tickled, giggles.  We never dreamed we would see Owen smile and it is a great sight- he uses his entire face- much like Jack Nickolson's Joker from Batman.

From a diagnosis standpoint, I feel lost.  Is it really possible we will never know what is wrong with Owen? We are still waiting on the cholesterol test (yes, we are over a month now...does it really take that long to test for it??).  When that comes back, assuming it is negative, what is next? His doctors are at a loss and have tested for everything that fits his profile.  I am not a neurologist nor a geneticist, so I am stumped at this point.  When we first received the news about our son, Pete and I both anticipated seeing a rapid decline in Owen.  Through medication, we have been able to organize him and allow Owen to show us his personality.  I am tremendously grateful for this because I will always truly know my little guy no matter what his future holds.  I couldn't say that back when he was two months old.

But what does his future hold? I cannot stand the unknown.  How do I plan for his future and the future of our family if it is just a giant question mark? We are doing our best to enjoy each day and be thankful for each memory we create with Owen by our side.  He is growing, slowly, but he is getting bigger.  At this point he still requires a tremendous amount of holding.  In two years, am I going to be writing a blog about how I carry my two year old around the house because his intense irritability will not allow us to put him down?  Will we have a chiropractor living in our house?

Owen desperately craves human contact and it often is the only thing that seems to calm him.  It doesn't have to be his mom, it often just needs to be a warm body and soothing shushing.  When we are out, I stare at kids in wheelchairs.  Have you noticed them? There are a lot of sick little kids around.  I stare for a different reason then others might stare.  I am looking to see if these kids are happy.  I just don't see how Owen will someday be pushed in a wheelchair independently and content.  These children might not be happy in the true emotional sense, but they are by no means screaming and arching as I envision my little Irishman to do when put into his chair.

As long as Owen continues to fight, I will fight right along side him.  My mission is to give him every positive experience he can have while he is with us, whether that is 10 more months or 10 more years. The details of how we can keep up the lifestyle we are living with Owen frightens me.  What is the eventual toll going to be on me, Pete, and Ellie?  On our marriage?  I have no idea, probably not good if we continue living the way we are for years on end.  It is very hard to see the light at the end of this tunnel.  For now, I will just keep fighting for Owen, I won't give up.

June

Owen has been enjoying a fabulous month.  He has continued to make his presence known in our house.  Just last night, I got up at 11:30pm because he woke me up.  He was making so much noise I thought I should go and help Pete.  When I got downstairs, I discovered Owen squawking away on the couch perfectly happy.   In addition to his improving vocal abilities, he is also having a lot of fun playing.  Here is what Owen has been up to:

Entertaining us with some tunes

Swinging high and loving it in our backyard!

Showing off his artwork created on the microfiber of our couch

Playing at the park

Celebrating Memorial Day on our deck

Quick snooze break while playing in his gym

There is a magic hour after Ellie goes to bed where it is just me, Owen, and Pete.  This is one of my favorite times of the day.  Over the past few weeks, he has just been happy hanging with us on the couch while we catch up on our day.  This is a new favorite picture that Pete captured of me and Owen:

Last night, Owen and Pete helped our niece, Jillian, celebrate her installation into office of Rainbow.  This is a group who dedicates their time to volunteering and raising money for charities.  Jillian selected The Tiny Sparrow Foundation as the charity her group will be focusing on raising money for over the next few months.  We are very proud of her.  Here is a picture of Jill and Owen last night:

And this is a picture of Owen just plain being adorable.  He is very good at it.

EEG Number Three

As I type this blog, I am on my last day of a ten day vacation.  It has been wonderful.  I should mention that I only work two days a week, so having ten days off in a row really isn't necessary, but I have enjoyed every one of them.  My mom has been visiting us since the end of April and will be leaving this Sunday.  Having her extra set of helping hands in the house has provided time for some chores and lots of fun.  We took the kids to the ocean, a few parks, and many visits to our neighbor's house- which features a horse, goat, and chickies.  Our biggest accomplishment was done in four days, Ellie is potty trained!  Hurray!

After a wonderful Memorial Day weekend, it was back to business.  Owen has been having staring spells since the beginning of March.  They last seconds and for a long time we only noticed a few a week.  In the past two weeks, they have dramatically increased.  I was pretty sure we were witnessing absence seizures.  The initial plan was to do another EEG in August when he goes back into Boston for his next check up, but Owen's neurologist decided we should do it now since they have increased.  Owen has been fairly irritable lately (not much of a surprise) and seizures can make that worse.  They can also affect sleep, which Owen does not find to be an important use of his time.

As I have mentioned before, Owen loves EEGs.  The twenty or so sensors they attach to his head is his version of a massage and he cooperated willingly as Mary attached them.  Mary helped with Owen's EEG in December (when he was an inpatient) so she remembered what an unhappy little boy he was.  It is fun to show off my new and improved Owen.   He even graced her with a few smiles.  About five minutes into the EEG, while Mary and I were yakking about purses, Owen had one of his staring spells.  She watched him, stared intently at her computer screen, and then said she was going to go page Owen's neurologist.  Go OWEN!  Finally, EEG number three captured a seizure!  It actually captured quiet a few since he is having them in clusters.  We are starting a new anti-seizure medication today as well as keeping him on the one he currently takes.

In other news, Owen does not have FOXG1.  This was the Rhetts-varient disease we tested for in March. The results came back a week after his MRI.  Now that I know he doesn't have it, I can officially say, thank goodness!  I don't like any of the diseases they are testing him for, but that one seems particularly awful.  We are still awaiting the results of a cholesterol disease which we should have sometime in the next few weeks.

Peaches and Smooches

Taking a nap on his new bean bag loaned to us from his OT, Christine

Nuk break before his MRI

Playing in his Little Room loaned to us from The Perkins School for the Blind

We are in more of a taste testing process rather then actual eating.  Owen so far does not like  apples, peaches, or bananas. Maybe we will try some veggies...

Enjoying a smooch and hug from Ellie

Six Month MRI

Last Thursday was our big trip into Children's Floating Hospital for Owen's six-month MRI.  In the days leading up to the appointment, I was very anxious and incredibly distracted.  For anyone who I interacted with during that time, I apologize.  I have no idea what we talked about because my mind was only focused on one thing.  Has it progressed?

Sadly, it has. Thursday morning started for me at 2am when I woke up to Owen screaming his high-pitched neuro cry.  He has been doing that a lot again lately and I got up to help Pete out.  Owen screamed in my arms from 2am until 5am when he finally fell asleep.  It is so difficult to watch your child in such distress.

In general, it just wasn't a great morning.  We hit traffic heading into Boston and were 20 minutes late for our appointment, an MRI machine was broken and Owen was about an hour and a half late getting into the machine, and he pulled out his IV while waiting for his turn.  After the MRI was completed, Owen had more blood drawn and also another lumbar puncture while sedated.  Then we met with his geneticist who did an exam on Owen.  She suggested a new test to run on Owen for a fairly common genetic disorder.  Many of the markers for it sound like Owen and we will be awaiting those results some time in June.

Owen's chromosomal tests have come back completely normal, all of his mitochondrial tests are normal, and we are just waiting on the result of the variant-Rhetts test which should be arriving any day now.  The most significant portion of the day was reviewing Owen's MRI with his neurologist.  We were able to look at the images taken in November and December of 2011 and compare them to the current MRI.  The progression of the disease of the white matter of his brain was obvious to our untrained eyes.

We feel satisfied with the appointment.  It wasn't wonderful news, but it was confirmation that we are on the right path with Owen.  We are doing everything we can to keep him comfortable and happy.  Loving him every day and trying to enjoy each moment with him.