Karyotype Picture

At the special needs fair last week, I ran into Matthew's genetic counselor. I have been meaning to call her for the longest time, but it isn't high priority and has fallen so far down my to-do list that it has fallen off.  So, when I saw her I was quite excited that I could finally ask her my question.  

After reintroducing Matthew to her,
Me: "Is there a way we can get a picture of Matthew's chromosomes?"  
Her:  "Well, yes, but only if the duplication is large enough to see in the karyotype. Just call the lab."  {For a fun explanation of a kayotype, visit this site.}
Me: (chuckling a bit) "Pretty sure it will be large enough." 

I told her the story that when we were searching for his diagnosis, Matthew's blood work was sent to Boston to test for a particular genetic disorder, and the researcher called to say 'He doesn't have this particular disorder, but you will definitely want to look at his 4th chromosome'.  I saw the recognition come across her face-- "Oh I do remember Matthew!  Yes, it will certainly be big enough."

It was a delightful process-- quick and easy.  I called the lab, Darren signed a release form, and the picture showed up in my inbox.  And yes, the duplication is pretty obvious.  

The really long 4th chromosome is the unique one, with 10 extra segments.
It is his longest chromosome, and it should be his 4th largest.

2 Years Post-Ladds

Today is the 2 year anniversary of Matthew's first surgery-- his Ladd's procedure to correct his malrotated (and volvulus) intestines.  2 years post-surgery, the only sign that he had this procedure is the faded scar on his belly.  Thanks be to God!

We are still so very thankful for our wonderful GI, who sees Matthew as the unique kid that he is, and our personable general surgeon who walked us through not only the surgery but the 6 day stay at TCH waiting for Matthew to recover. 

The statistics related to malrotation are quite scary.  Reading the stats a little more than 2 years ago, I was taken aback that the mortality rate for children with malrotation was between 2-24% depending on the study.  We are so very lucky they found the malrotation and were able to perform the Ladd's.  

But even post surgery (Ladd's procedure), there is a higher than average mortality rate because of long term possibilities of adhesions, and the like.  So, when I kiss Matthew's cute baby belly, with that fading scar, it is a reminder that we are all on borrowed time.  I am so very grateful for that time!

You can barely see the faded scar, just above the gray string,
about 2 inches from his belly button on his right side.

Blue Funk

I have been in a bit of a blue funk lately.  I don't know if the below are causing the blue funk or if the blue funk is causing the below.  Chicken and egg issue.

This Spring, I signed up for a sprint triathlon (300 yards swim, 11 mile bike ride, 3 mile run) for the middle of August.  I did this because I am a fair weather runner.  I would prefer to run only when it is sunny and between 50-70 degrees outside.  I don't like running in the heat (summer in Texas=heat) and my next big goal is still months away. I figured I needed a stretch goal at the end of the summer to keep me motivated.  In June, I was motivated to train!  29 workouts in 30 days.  In July, not so much (about 1/2 of that).  Now, I'm only 2.5 weeks away and I'm still so not motivated.  I have no idea why.  If I don't get on it, August 12 is going to hurt.

Speaking of the summer, though we've had a lot of fun, I am ready for the summer to be over.  We've had a lot of togetherness.  Alyssa and Jackson bicker at least once a day.  Matthew leaves a wake of destruction wherever he goes, so our house looks crazy from wake up to bedtime. Although I only teach a few hours a week during the school year, I didn't realize how much I would miss teaching and the kids going to school.  We all do better with a rigid routine.  Jackson starts in 3 weeks, Alyssa and I in 4.5 weeks.  I am counting down.

Though I am counting down till school starts again, I haven't been very motivated to prepare for my upcoming Fall classes either.  One of my classes is undergoing a major overhaul, which is labor intensive. It is also the class most at risk of not making because of low enrollment.  I can't wait to see if it makes before I prepare because all the work in a shorter time frame will be nutso, but also I am not highly motivated to work on something if the effort will be wasted. 

Finally, I have been totally overwhelmed thinking about Matthew's future.  The saying is 'not seeing the forest for the trees', but looking out into the forest is what is giving me anxiety right now.  When I look at the one tree in front of me, when I see Matthew running around the house, I am so thankful for all the progress he has made. But when I look out into the forest, it is a scary and dark place. 

In about 6 months, Matthew will transition from ECI (early childhood intervention) to the school district/private care.  We have been so well cared for in ECI-- Matthew has a case worker, he's been receiving services since he was 4 weeks old, he gets all the services he needs, and they work to help him reach his full potential.  When Matthew transitions to the school district, they don't work on getting him to his full potential but to the basic ability to perform at the lowest level of passing in a school setting.  Helping Matthew reach his full potential will rest solely on our shoulders.  I will miss 'Team Matthew' and am nervous about all the change.

In addition to that upcoming transition, I have been fretting about Matthew's language acquisition.  There are so many implications if he doesn't talk-- where will he learn sign, how will he be treated as a person who hears but doesn't speak and only signs, how will the school district treat him, how will our family learn sign, and so on.  I am trying to figure out how to juggle learning sign with preparing for school with caring for the kids with taking care of the house and with life in general.

When I look out into the forest, I am nervous and scared. Thinking about and preparing for Matthew's future is overwhelming. 

My blue funk = lack of motivation and being overwhelmed = me being completely ineffectual (in reverse order, and then in a loop).  Though I am not quite sure how to break the cycle, I know that this too shall pass. 

All Inclusive Playground

There are a half dozen or so playgrounds throughout Houston that are considered all inclusive, also known as 'special needs friendly'.  Yesterday was my first exposure to one, and I was suitably impressed.  Though 30 minutes from the house, we will be frequent visitors!

It was a huge playground, with something for every one.  There were large ramps for wheelchairs, which Matthew thought were great, because he loves running up and down ramps. There were a few steps, and they were the perfect height for Matthew to go up and down on his own, while standing.  There was a slide with rollers, which made it an effortless slide, as well as lots of traditional slides.  There was a balancing beam and monkey bars.  There was a picnic table in the middle of the structure, that you could rock back and forth.  And there were tons of fun activities-- a periscope that worked, bells to ring, drums to beat, chimes to clank, cranks to push, mirrors to enjoy and a bridge to cross.  

It was perfect for all 3 kids.  After about 10 minutes there, Alyssa ran up to tell me 'this park is awesome!' and she was right.  They loved it.  Jackson tried out all of the activities, and particularly loved the periscope.  Alyssa enjoyed the balance beam and the hand cranks.  Matthew just ran everywhere and he was able to work on so many of the skills that we work on in therapy.  It was just ideal.  

It was designed for everyone:  a place where everyone-- special need or not-- could enjoy equally.  Delightful!  Perfectly designed for all!  I wish that life could always be like that for Matthew, and Alyssa and Jackson too.  Actually, I wish that for everyone everywhere!

More From Holland

Most of every day we forget that we landed in Holland the day that Matthew was born. We don't really think about it much.  We are typically in the moment, balancing work and life with 3 young kids.  Mostly, we are joyful that we are where we are, with the life that we have.

Once in a while though, we will pass by a billboard for Italy.  And we will remember, 'oh yes, we were supposed to go there'.  It may be seeing a child half Matthew's age that is doing something that he can't yet do, or seeing a picture of Alyssa or Jackson at the age that Matthew is now and remembering back to what life was like with them at this age.  This isn't Italy.

And sometimes we are reminded, not just that this isn't Italy, but that we are in Holland, like when the neurologist said "He might not have full verbal capabilities".  And today, the kids and I went to the Holland visitors center.  Actually, it was a special needs fair sponsored by the Baylor College of Medicine's genetics department, but it easily could have been the visitors center.  Every one was so helpful, and so nice, but I had a hard time holding back tears while I walked table to table.  Even 2+ years later, it is still tough sometimes.  We are in Holland.

Once in a while, we run into a family that was on that same diverted flight to Holland. When we do, it feels like we are old friends though we had never met before.  A few days ago, I received an email from a mom who has a little girl with a 4q duplication.  Her duplication is very similar to Matthew's-- sharing 8 of 10 segments and she is just a few days younger than he is!  The manifestations of her duplication are a bit different than Matthew's, but there are some amazing similarities.  They share similarly unique ears, thumb anomalies, heart issues, and even some of the same personality traits-- including that sweet disposition.  As well, I just received a message from another mom who has an infant son with a rare chromosome disorder here in Houston.  We are planning to go to lunch soon to meet.  Thankfully, we are definitely not alone in Holland.

It really is just brief moments of sadness and jealousy when we remember this wasn't what we had expected.  After those moments pass, we remember that we are blessed because Holland really is a beautiful place... a place where our sweet baby Matthew runs through the tulips.

Speech Update

Right before vacation, Matthew was evaluated by a speech pathologist.  His speech therapist and case worker are/were concerned that there might be something physiologically keeping Matthew from speaking.  They had never seen such a social child who had such strong receptive language not speak.  They felt that if Matthew could talk, he would. 

So, we had the speech pathologist come for an evaluation and Matthew was the chattiest he's ever been, before or since.  Her findings were that he was in the early stages of language development, to keep on doing what we are doing, and know that we will likely be spending a lot of time in speech therapy for articulation when he does talk because of his mouth/jaw structure.  She didn't see anything preventing him from speaking and really didn't offer anything more.

After vacation, Matthew had his developmental evaluation with his neurologist.  It was pretty much what we knew and expected-- he's strong in social skills, in cognition, and in receptive language, he's weaker in fine and gross motor, and very weak in expressive language.  At the end of the appointment, I got up the nerve to ask the big question-- Do you think he will talk?  I wasn't as prepared for his heart breaking answer as I should have been.  Paraphrasing--"In my experience, I think that Matthew may not end up having full verbal capabilities.  I would keep on pushing sign language and assistive technologies."

I knew this answer before he said it.  I've known it is a possibility that Matthew will not speak.  But I always remind myself as well that Matthew is 1 of 2 in the world-- no one can really tell us what he will or won't do.  The doctor may see a lot of cases and know more than I'll ever know, but I know Matthew and he isn't every case.  He defies the odds. 

So, we continue to pray Matthew speaks one day and we are still working diligently to set him up for it, but we are also following the neurologist's advice by pushing sign and technology to help him communicate as well.

Jax Bday Celebration

We celebrated Jackson's birthday seemingly all week.  Every day all week he told strangers it was his birthday, and I guess he really couldn't distinguish that it was just Tuesday alone because we did stuff throughout the week just for him.  Tuesday we returned from our trip and he chose pizza and a movie at home to celebrate on his actual birthday.  On Thursday, we went to see Madagascar 3 at the theater and ate dinner there.  And Saturday night, we celebrated with the grandparents.  He got his first razor scooter from Granny and Granddad, and a really cool helmet from Grandma and Grandpa-- perfectly coordinated birthday gifts and totally unplanned.  Saturday night, we finally had his birthday cake.  He's been counting down to cake day all week.  He told me he wouldn't feel like he was 5 until he had his Angry Birds cake.  So now he feels 5!  

No Fear

Matthew thinks he can do everything his sister and brother can do. Not only is he tenacious, but he has no fear.  We've noticed this most in the water.  In the community swimming pool, he doesn't want to wear a vest or a swim floaty, but he wants to walk around the kiddie area with Alyssa and Jackson. He falls and becomes totally submerged. I pull him out, he coughs a second or two and then laughs, ready to do it again.  Going to the pool with Matthew is not a relaxing event.  I am always on alert and on edge with him. 

At the lake, it was pretty similar, but he was able to keep his footing a bit better and could walk a bit in the shallow water.  I was able to take a breath or two.  That was until the guys finished building the dock and Alyssa started jumping off the dock into the water. 

Alyssa jumping off the dock in MI

Anything you can do, I can do!

Rain, Rain Go Away

We had a bit of a rough transition from vacation back to every day life.  Coming home, we found our mailbox was off of its post, a sink in the master bath (that serves as the main drain for our a/c unit) had overflowed, the dog sitter didn't do a great job of wiping paws so the floors were covered in muddy dog prints, and there was dog doodie in the garage.  Yuck!

To top it off, it has been raining off and on since we pulled into the driveway.  We've had upwards of 14 inches of rain in 2 days and it looks like more is on the way. The streets in the area are flooded.  It took Darren an hour to get to work, 7 miles away, having back tracked twice to find an open road to get there.  This is the 'road' just south of our neighborhood, that I usually take to get to the grocery store.  Our house is safe, and hopefully our friends and neighbors are too!

The kids have done pretty well with all the rain.  Maybe they got enough outside time during vacation that they don't mind being cooped up in the house for a few days.  I did pull out the big guns, the cardboard houses for them to color and play in.  I bought one for Aly and one for Jax, thinking that would keep the peace.  I underestimated how much Matthew would want to play in one, and how much the older kids wouldn't want him to bother theirs.  He was as unhappy with being left out as the older kids were happy with the houses.  Lesson learned.

Vacation seems so far away, though we've been back less than 3 days. We miss the sun, the lake, and the family.  Thankfully we took lots of pictures to remind us of our fun!

OC Checklist

Ovarian cancer took our dear cousin and friend, Jenn, in November of 2009.  She fought it valiantly for over a year.  The symptoms of ovarian cancer whisper, and most women ignore the quiet symptoms chalking them up to other things.  Because of this, most women are diagnosed in later stages of ovarian cancer, where the survival rates are not optimistic.  There is no test, and a pap smear does not indicate either way.  Right now, the best method of detection is knowing your body and raising concerns to your OB/GYN.  The checklist below was developed to help identify early warning signs of ovarian cancer.  Please be vigilant and pass this along if you can.  Hopefully these efforts (by NOCC, Dr. Oz, MD Anderson et al) will save the next family the loss of their beloved mother, daughter, sister, cousin, aunt, and friend.  Rest in peace Jenn.

3rd Annual WMBC Road Trip

2865 miles.  3 kids.  8 states.  15 days/14 nights.  We must be crazy!  But it was well worth it for the fun with friends and family!

Destination 1- Indianapolis, Indiana - 2 nights
Though I talk to my best friend several times a week, and we can share a glass of wine over Skype, it was fantastic to spend face time with her and her family!  Our older kids enjoyed the water park and the sprinkler, while the highlight for Matthew was chasing their cats and dogs.

Destination 2- Sister Lakes, MI- 8 nights
Spent a week enjoying Round Lake with extended family.  Food, fun, games, beverages, sun+water, sleep, shuffle, and repeat.  It was too fantastic! The food was amazing-- thanks to Uncle Jerry!  The games were too fun.  The sun and water was wonderful. Our hosts were warm and welcoming, as always, huge thanks to Uncle Gary and Aunt Peggy!   We had more fun than we would have if we had gone to Disneyland!  

 
Destination 3- Chicago, IL- 1 night
All too short visit with family, and a warm, comforting night in 'Grammy's room'.  Thanks to Aunti C and Uncle G for hosting our crazy crew while in their own remodel craziness!

Destination 4- Dyersville, IA- 2 hours
"If you build it, they will come." and we did!  We went to the site of the movie Field of Dreams.  We walked out of the corn field.  We watched a pick up game from the bleachers.  We took pictures.  Jackson kept calling it 'the field of the dreams'.

Coming out of the corn, to the field.

Destination 5- Cypress, TX- Home!
The trip was a resounding success. We had a great vacation!  And overall, the kids did really well being out of routine (and in the car) for that long.  We were most concerned about Matthew, since he is not a fan of being confined, but he did pretty well about 90% of the time.  We must really be crazy, as are already planning next year's We Must Be Crazy road trip!

Matthew loved helping Darren push the luggage cart!

Our 7 year old truck hit a huge milestone on this trip.

Matthew took a few naps, yelled a bit, babbled some, and looked at a few books to pass the time in the car.

Aly and Jax listened to audio books, colored, played the DS, and watched movies to pass the time in the car.

Happy 5th Birthday Jackson!

Happy 5th Birthday to our big boy, Jackson!  Today we spent a large amount of time in the car (more on that in an upcoming post), but he still had a great day choosing what movies he wanted to watch and what he wanted to do for dinner.  We will celebrate with the family and have his birthday experience later this weekend.  

Having a birthday dinner of pizza and a movie (Cars 2).

 
Jackson 
-has a great laugh, it comes from his toes and radiates through his body.
-loves physical comedy.  (think 3 Stooges)
-is a cuddle bug.  He loves to snuggle.
-favorite dinners include pasta with butter and pizza.
-is a huge Star Wars fan- particularly the Clone Wars cartoons and Return of the Jedi.
-is the Hoy House Angry Birds savant.  If I can't get to the next level, I hand the game to Jax.
-is a cautious kid, and after rough starts has taken to riding his bike (sans training wheels) and swimming (sans swim vest).
 

Physicist at a Funeral

I always think of our dear cousin Jenn when I hear the saying that some lights are so bright that they continue to shine long after they gone.  I recently read the following piece, and it reminded me of all of the wonderful people I know that are in Heaven today.  I love the idea that their energy still travels the globe, that their light really never goes out. 

The following was written by NPR contributor, Aaron Freeman.

You want a physicist to speak at your funeral. You want the physicist to talk to your grieving family about the conservation of energy, so they will understand that your energy has not died. You want the physicist to remind your sobbing mother about the first law of thermodynamics; that no energy gets created in the universe, and none is destroyed. You want your mother to know that all your energy, every vibration, every Btu of heat, every wave of every particle that was her beloved child remains with her in this world. You want the physicist to tell your weeping father that amid energies of the cosmos, you gave as good as you got.

And at one point you'd hope that the physicist would step down from the pulpit and walk to your brokenhearted spouse there in the pew and tell him/her that all the photons that ever bounced off your face, all the particles whose paths were interrupted by your smile, by the touch of your hair, hundreds of trillions of particles, have raced off like children, their ways forever changed by you. And as your widow rocks in the arms of a loving family, may the physicist let him/her know that all the photons that bounced from you were gathered in the particle detectors that are her/his eyes, that those photons created within her/him constellations of electromagnetically charged neurons whose energy will go on forever.

And the physicist will remind the congregation of how much of all our energy is given off as heat. There may be a few fanning themselves with their programs as he says it. And he will tell them that the warmth that flowed through you in life is still here, still part of all that we are, even as we who mourn continue the heat of our own lives.

And you'll want the physicist to explain to those who loved you that they need not have faith; indeed they should not have faith.  Let them know that they can measure, that scientists have measured precisely the conservation of energy and found it accurate, verifiable and consistent across space and time. You can hope your family will examine the evidence and satisfy themselves that the science is sound and that they'll be comforted to know your energy's still around. According to the law of the conservation of energy, not a bit of you is gone; you're just less orderly. 
 
Amen. 

I can't believe it has been 3 years since we saw her last. 
RIP our dear cousin and friend, Jenn.

It Is What It Is

I have joined a few online rare chromosome disorder support groups.  I usually take great comfort in these groups-- that though we are walking Matthew's journey on our own, that there are people walking similar journeys. I get ideas, support and information from these groups.  But once in a while, something I read rubs me the wrong way.  I have encountered 2 such posts in the last few weeks.  

The first was a post about Down Syndrome and how children with Down Syndrome should be treated as if they were diagnosed with an 'Einstein Syndrome' instead, reaching above and beyond.  See the article here.  This is the line that bothered me the most:  "I am convinced that the biggest handicap Down syndrome children have is the low expectations of their parents." 

In the same vein, a woman had posted that she was excited that she had to tell her daughter to be quiet, something that didn't believe they would ever have to say. I posted back that I was currently praying for that experience with our sweet baby Matthew and I loved to hear that there were people on the other side.  She responded to me saying "It'll happen! God's amazing grace works in everyone.  If we believe that God has the last say and that he has a different plan for our babies, it will happen!" 

I know these posts were intended to be supportive and give hope beyond diagnosis, but what frustrates me most with this type of comment is the implication on the other side.  What if it doesn't happen? So, if Matthew doesn't talk, it is because of my low expectations or I didn't believe in God enough?  I wish I was that powerful--that my working with him, that my praying for him, made the entire difference.  I wish it did!  But what I am learning is that I work with him, I pray for him, and I have to wait to see what happens.  

What happens (or doesn't) with Matthew is mostly out of my hands.  I work with him, set him up with the tools and tricks to do the next big thing, but some developmental switch has to get flipped, all according to God's plan which may or may not include him talking.  God's amazing grace may have determined that the bigger plan was for him not to talk, or to talk much later.  And even if Matthew talks, there are millions of kids (and adults) who are the flip side of this-- whose caregivers give all they can, whose doctors do all they know, and whose prayer warriors pray fervently-- and sometimes it is what it is, not because they didn't work hard enough, or pray hard enough, or believe enough.  No ones fault, it just is what it is.

Small Things- Matthew Edition

Everyone is trying to accomplish something big, not realizing that life is made up of the little things. -unknown

Matthew likes to play on the computer.

He loves to have something on his wrist.

Matthew putting on Jackson's tball hat while riding the scooter. 
Love the multitasking.

Matthew with his crazy hair.

Matthew in the 'Daddy car', aka the '66 Stang.
Loving to play in that car is a long standing Hoy kid tradition.