Partying Like a 20 Month Old

Yesterday we celebrated Ellie's 3rd Birthday at her favorite music class, Itsy Bitsy Zone.  It was a fun day filled with family, good friends, and Ellie enjoyed every moment of it.  Ellie had the same party last year for her 2nd Birthday- we progressed from a 2-year old Cookie Monster theme to a 3-year old Minnie Mouse theme.  At the party last year, Owen was surrounded by loving arms and tucked into a corner bench.  The goal was to have him at the party, but calm and comfortable.

Owen has come a long way over the past year.  He partied right along with all the other kids this year and it was a great sight!  He tried out the bouncy house -and loved it.  He went down the slide- and loved it.  He danced with ribbons, listened to egg shakers, and banged a pot- and loved it.

Owen showed us yesterday that he is ready to play and it is our job to keep his struggles- seizures, GI issues, medications, irritability- in check so that he can fully participate in the great life he has.  Three is such a fun age, but I am also really loving a 20-month old Owen!

Borrowing his big sister's Mickey shirt

Bouncing in the bouncy house.  I now have 2 kids who love bouncy houses...

Grooving to the music

Listening to the symphony of egg shakers

A room full of preschoolers banging on pots and pans puts me to sleep!

One happy family

Too tired to play with his farm animals

For me, the best part of the day was seeing Owen sit next to his big sister at the table.  He listened as everyone sang her Happy Birthday and tried a bit of frosting on his Nuk.  Often it is the little things in life that are the most important.  This was a moment I had been waiting 20 months to see.  

The Results Are In

Owen's genetic doctor called me on Monday evening to let me know the results from the Whole Exome Sequencing (WES) were in.  Owen's genetic results showed us the following:

• One gene abnormality associated with the disease Achalasia Addisonianism Alacrimia Syndrome (AAA Syndrome)
• A few variants which have been passed from either me or Pete to Owen. These variants do not cause symptoms because Pete and I do not have symptoms
• Carrier Status- Owen isn't a carrier of anything

This is a wonderful genetic report if you have a typically developing child who is hitting all of their milestones.  This is devastating news for our family in regard to Owen.  Essentially we have learned nothing from this test.  Owen's symptoms do not fit AAA Syndrome.  I have a few pending questions for his geneticist regarding this disease, but overall it does not make sense in regard to Owen.

The results also do not resolve the mystery of why this happened to Owen.  Was it a problem at conception or the result of something Pete and I passed on to Owen through our genes?  We don't know.  That leaves us in the 75% chance of having a child like Ellie and a 25% chance of having a child like Owen if we were to expand our family.  As we have said in the past, we will not accept those odds.  This is hard for me because I have wanted another baby since about 2 minutes after Owen was born.  I am officially accepting that I will not get to be pregnant again or have another child.  Henceforth, my energy will be focused on being the best mom I can to the two great kids I have.  I am pretty lucky- and there is going to be a massive Yard Sale this summer- who needs baby stuff??

Even though the genetic results did not give us an answer, it is important to understand that this test is not a complete evaluation of the human genome.

 In the human genome there are about 180,000 exons: these constitute about 1% of the human genome- It is estimated that the protein coding regions of the human genome constitute about 85% of the disease-causing mutations.

That is the explanation from my good friend, Wikipedia.  The way Owen's geneticist explains it is:

If you watch a 30 minute TV show- only the show portion of Owen was tested.  Science does not have a way to test the commercials within that TV show yet (or at least it isn't available to the public).  We love Owen, but we would never take a blind risk of adding to our family without knowing 100% why Owen struggles as he does. 

Today, I had Owen at the hospital for another EEG.  He hasn't been doing well lately in terms of irritability.  His seizures are increasing and we are working hard to limit the number of them and also the irritability they are causing him.  This is an ongoing struggle.  Owen showed his entire repertoire of seizures while hooked up to the EEG machine and video.  His neurologist has adjusted his medications and will continue to search for ways to improve Owen's comfort level.

Moving forward- we are pretty much out of options.  Our plan in the next few months is to move forward with g-tube surgery.  This is a decision Pete and I made awhile ago and one I will explain in more detail in another post to come.  During the surgery, he will have a MRI done and also a muscle biopsy.  The muscle biopsy is the only definitive way to test for mitochondrial disease.  It is something that has always been on the table of discussion for Owen.  At this point, it makes sense to combine procedures while he is under anesthesia.  

We also discussed second opinion options.  As many people who read this blog know, I am from Minnesota- home of the renowned Mayo Clinic.  Owen's neurologist is working to make a referral to Mayo for our family.  It is a very easy decision to combine a vacation to see the people we love with a visit to an amazing hospital who might find Owen very interesting.  

The future for our family is very bright.  We have Ellie's Minnie Mouse 3rd Birthday Extravaganza on Saturday.  I mourn the loss of the beautiful third baby I will never know, but I am very aware of how fortunate I am to already have two amazing kids.  I will never stop looking for answers for Owen, but I am accepting the reality that Owen truly is a mystery.  

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!