Owen Update

I took a few weeks off from blogging because I planned to write this post about Owen's upcoming surgery.  Yesterday, we were scheduled to meet with Owen's surgeon to go over the details, but unfortunately, Memorial Day weekend was a rough one for a few families- and Owen's appointment had to be postponed because his surgeon was going to be in the OR all day with back-to-back surgeries.  We hope they were all silly minor things like, say...oh I don't know...eating quarters....Ellie's Quarter Incident of 2012

On June 27th, Owen will have a g-tube placed as well as a brain MRI, muscle biopsy, and skin biopsy. The g-tube, for those who do not know, is a feeding tube to help support Owen's nutrition and provide another option for dispensing his many, many medications.  We have strongly opposed placing a feeding tube in Owen since it was first suggested at 2 months old. Our reasoning in the early months of his life were based on the information we were given that Owen would only live for a very short amount of time.  Owen has shown to us over the past 21 months that he has a lot of fight in him and isn't going anywhere anytime soon.  We now view the feeding tube as a comfort measure as opposed to a life extending procedure.  Owen is very thin.  He does not eat enough by mouth each day to support a proper level of nutrition.  When he is sick (which is often) he does not eat and we are unable to get his medication into his body.  For these reasons, it is necessary to have another option to feed and care for Owen.  Pete and I made this decision many months ago, but decided to wait until we had the results from the genetic testing back before moving forward with any surgeries.  We were hopeful that our decision would not be a blind one- we were hopeful that we would have a diagnosis with some idea of life expectations and disease process to help guide us.  This is not the case- at age 21 months, we know the same amount of information about Owen and what is wrong as we did at age 2 months.

Owen has not had a brain MRI since May 2012.  The initial plan was to do MRIs every 6 months to monitor the changes in the white and grey matter of Owen's brain.  Is it changing, increasing, decreasing, ect?  Owen has to be sedated for the MRI because it is essential that he remain still during the imaging.  Owen's airway is no longer is stable enough for safe use of IV sedation and therefore we have been unable to do a MRI for over a year now (we would not electively have Owen undergo general anesthesia for only a MRI).  Pete and I are very interested to compare this new MRI to his previous ones.  The MRI is really the only piece of information we have ever received about Owen that has provided a clue about his illness.

The muscle biopsy will be to rule out mitochondrial diseases and the skin biopsy will be to store more skin cells of Owen's for future testing as needed.  Owen will be admitted to the PICU post surgery and his breathing tube will be remove there as opposed to in the recovery room of the OR.  There is concern about being able to safely remove the breathing tube and it may take a bit of time for it to happen.  Pete and I are obviously very concerned about this, but I also know that Owen has always proved my worries wrong.  I wouldn't be even slightly surprised if they were able to remove it in a very routine fashion and Owen would be heading home with us the same day.  With Owen...you never know...

The past month has been a trial of ups and downs with Owen.  He was put on a medication that he did not react well to.  We had about two weeks of screaming and arching of his body before we were able to figure out what was happening.  It was rough.  Immediately after that struggle, he came down with a cold.  For the past two weeks he has sounded very congested in his chest and struggles to breath.  We are doing the nebulizer three times a day with him, chest PT, and trying to keep him in an upright position as much as possible.  The good news is this congestion is all in his chest and not his lungs.

Owen is just such an interesting guy.  Each day presents differently and you never know which version of Owen will be with you when you wake up in the morning.  Yesterday was one of my favorite versions of my little boy.  He was awake from 10am until he got his sleep medications at 9pm.  His whole day was alert, calm, and peaceful.  He still struggled with congestion and breathing, but he didn't let that dampen his spirits.  We went for a walk around town, swung on the swing set, and played.  If only every day would be like yesterday it would be a great life for Owen.

Owen will now have his pre-op appointment on June 17th.  We will also meet with GI and his neurologist on that day.  I will post an update after those appointments.

A bit hard to see, but Owen has been wearing his Oklahoma hoodie to support those he loves in Moore, Ok.  Thankfully, our friends that we love made it through the tornado safely, but their community will be forever changed.  Our prayers include love, hope, and healing to that area every day.

My handsome, silly red-head

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!