Friday, June 27, 2014

Helen Keller

Today is the anniversary of Helen Keller's birthday. I saw this picture with this quote and had tears well up in my eyes as I think it fits our sweet Matthew too. Such a beautiful quote from an amazing woman who had a well-lived life. 

Tuesday, June 17, 2014

Reflective Moments

In theory, I understand our kids are getting older with each passing day.  Though in that every day, it is a little hard to see the forest for all the tress.  But there are moments when I realize very clearly that our kids are getting older. 

When we first got a full night's sleep.

When we stopped shopping in the baby section at the store.

When we stopped listening to Sesame Street and Disney music, and the kids started requesting Kids Place Live and Kids Bop and audio books.

When they all went off to public school.

When we stocked up on Tylenol and only purchased it in tablet form.

When we went to a restaurant and didn't need a highchair, booster chair, sippy cup, bib, or other baby/toddler paraphernalia.

We don't often take the time to stop in the chaos of life and reflect where we've been and where we are now.  So, when I stopped at Target and bought the tablet painkiller, I was reminded to take a moment.

When Alyssa was little, she was a biter, always getting notes home from daycare that she was too rough or mean to friends.  Today she is one of the most caring and compassionate people I know. 

When Jackson was little, we worried he didn't have an imagination because he didn't really engage in imaginative play.  Now, he's definitely the most creative with the most vivid imagination of the 5 of us.

When Matthew was really little, he rarely put weight on his legs and we worried he wouldn't walk.  Today, he runs everywhere. 

In our every day, we often don't think about those days in the past, but when we look back, it is pretty awesome how far we've come.  The days are long, but the years are short.

Thursday, June 12, 2014

Breakfast Taco Challenge

Matthew has been fighting an eye/ear infection.  Jackson spilled his water bottle all over his work-from-home work bag full of activities the first thing Monday morning.  Storms rolled in on Monday morning.  Every morning this week, we've had an 8:00am appointment.  Every day, at least one (if not all 3) of the kids have shed tears.  So, I spent weeks preparing for hopefully a better summer than last, and within the first 30 minutes of summer vacation, I realized that the two most important things I need for a good summer are (1) patience and (2) a 'just-roll-with-it' attitude.  I am sure that the extra preparation has helped, but the start of summer feels a long way from 'smooth'. 

So, I'm trying to just roll with it!  Jackson was in a foul mood on Tuesday morning.  Trying to practice the 'just-roll-with-it' attitude, I created our family's first 'Breakfast Taco Challenge'.  On Monday, we had already had breakfast tacos after our 8:00am appointment, and it went over pretty well.  So, I suggested Tuesday that every day after our 8:00am appointments, we hit other establishments to test out the breakfast tacos.  This was not well thought out, but it was very well received. Yippee! And today, at the conclusion of our challenge, our favorite taco joint won by a 3 to 1 vote!

The fact that we didn't do traditional brackets bugged my beloved engineer, but I promised him later in the summer we'd do a more 'official' challenge (with traditional brackets), maybe not with breakfast tacos, but with something else-- maybe a cookie challenge (thanks for the idea and picture, Cousin Rach!).

Monday, June 9, 2014

Happy First Day of Summer Vacation

I have been dreading summer since school started last year.  Our kids thrive on routine and school is the ultimate routine.  Somehow the kids know that our summer routine is not really a strict routine.  So, for me, last summer was pretty brutal.  The kids seemed to bicker all the time and I had a short fuse.  It just wasn't much fun for anyone.  I don't really know why it was so bad, (maybe the move? maybe the lack of planning?), but I'm trying to do everything in my power to set us up for success THIS summer. 

The summer trip is planned.  Camps are booked.  Swim lessons are scheduled.  The homework hutch has been revamped for summer work.  The craft bin is stocked.  The bookshelves are full.  The idea jar is ready. 

And just in case all else fails...

...the wine is chilled.  Happy first day of summer vacation!!

Friday, June 6, 2014

Thursday, June 5, 2014

Matthew's Last Day

I am normally not a crier.  So, I was somewhat surprised when I got pretty weepy picking up Matthew from school today- his last day of school before moving to the big kids' school in the Fall.  Our experiences with his current school have been nothing but warm and wonderful.  From our first ARD meeting (last August) to today (the last day),  his teachers and classmates have loved and cared for Matthew and it always felt warm and welcoming.  Walking down the hall this past week, I heard one of his classmates emphatically tell his mom, "that is my friend, Matthew".  Tears welled up in my eyes then too.

I have been dreading summer pretty much since school began last Fall (more on that in a future post).  But even with that long dread, I will not be the saddest person in the house without school.  Matthew LOVES school.  He asks to go every day.  Every single day-- weekday or weekend.  Holiday or not.  In the 2 hours between dropping off the big kids and his school start, he will ask or sign 'school' countless times.  This boy is going MISS it big. And thinking back on the warmth of his teachers and his classmates, who wouldn't?

Tuesday, June 3, 2014

Verbal Leap

A woman who works at Matthew's school, but not often in his classroom, stopped me in the hall this past week to comment on Matthew's remarkable verbal leap. 

Matthew's latest verbal leap is huge.  I hesitate to say it as I don't want to jinx it, but I think maybe the switch was flipped.  His teachers have noticed the jump. And so have his therapists, his Godparents, the staff at school, and so on. It is a BIG jump!

And as excited as I am about the jump, I am humbled to be reminded that even with this amazing amount of progress, he's now verbally on par with an almost 2 year old.  Ugh!  Sure, a 50% verbal delay is better than the 75% delay he had, but we have a lot more work ahead of us!

Like much of Matthew's development, this verbal leap is a lot of joy mixed with a little heartache.

Monday, June 2, 2014

Rare Chromosome Disorder Awareness Week

Today starts Rare Chromosome Disorder Awareness Week.  If you know us or you've read this blog very long, you know that pretty much everyday is Rare Chromosome Disorder Awareness at the Hoy House. 

This is information from our 4Q duplication page on this blog, but thought it was worthy of a repeat to celebrate this week.

Our sweet baby Matthew was diagnosed with extra genetic material on his 4th chromosome. His official diagnosis is "4Q Chromosome Duplication" or "Partial 4Q Trisomy". Q indicates it is on the bottom section (or arm) of the 4th chromosome and the genetic material duplicated is from sections 25-34.2. This is a very rare chromosome disorder. When we met with genetics in April 2010, they originally thought his duplication was a bit different and there was one other case.  At his 2 year check, when we discussed the more refined results of the microarray, the geneticist believed Matthew was the only known person in the world with his particular duplication.

What caused Matthew's 4q duplication? We don't know. His duplication is 'de novo', meaning neither Darren nor I (Katie) have an abnormal 4th chromosome. A geneticist has compared chromosome duplications (which occur during meiosis) to trying to type from a page, where you may type a duplicate line if your eyes don't follow to the next line. It's just a chance happenstance. Dumb luck.

What does this mean? Honestly, we don't know and no one really does. With only similar but not exact cases to reference, we cannot extrapolate. As well, even identical twins born with identical duplications can exhibit different symptoms, so Matthew will write his own story based off of his unique combination of genes.

So far, we know Matthew has several uniquenesses that have resulted from his additional genetic material.

Matthew has
-missing thumbs
-mild to moderate hearing loss left ear
(As of 8/17/10, Matthew's hearing tested "normal" in both ears!)
-microtia (malformed, small) right ear
-heart abnormalities: ASD(Healing), functional biscupid Ao valve, dialated arortic root, PDA (Fixed via surgery 10/7/10), LVH (Healing)
-only 1 kidney (ectopic fused horseshoe kidney)
-undescended testes and hernia (Fixed via surgery 6/1/11)
-urachal cyst
-malrotated intestines (Fixed via surgery 7/27/10)
-low muscle tone
-slight torticallous (outgrew by 1 yr)
-micrognathism (small chin)
-GERD/reflux (outgrew by 15 months)
-global mild developmental delays
-craniosynostosis (Fixed via surgery 12/06/10)
-atypical venous structure
-throat anomalies: laryngomalacia, tracheomalacia, and subglottic stenosis
-gastroparesis (Periodically)

We don't know what to expect from Matthew...he's one in billions. What we do know is that we will do everything in our power to help him grow into his greatest potential. He has amazed us thus far!

Below are some helpful links about 4Q chromosome duplications.
--Unique is a rare chromosome disorder support group, based in the UK. To read Unique's article about 4Q duplication, click here.
--For a tour of the basics relating to chromosomes, click here.
--The genetics home reference is a good resource for basic information on chromosome 4. They have a nice diagram of the chromosome and you can see the areas that Matthew has duplicated (25-34.2). To see the diagram, click here.
--For information on the genes identified on 4Q, click here.

We continue to update our blog with the latest information about Matthew and all of us at the Hoy House. We are unbelievably blessed with fantastic, supportive friends and family. Thank you for the positive thoughts and prayers for Matthew and for us.  Happy RCDA week!