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