Rare and Genetic Disease Awareness

We wore our jeans today in honor of Rare Day! 

 

We have met and now follow a small group of kids that have similar diagnoses-- duplications on the long arm of the 4th chromosome.  There are similarities, but so far though, Matthew's specific duplication is one of a kind. We thought there were two, but that was based off less specific positioning of his duplication.

Though Matthew is alone in his specific rare disorder, he is far from alone on the rare disease journey. There are approximately 7,000+ rare diseases (meaning fewer than 200,000 cases) recognized with new ones being added by the day. 30 million people in the US are afflicted with rare diseases, which is about 1 in 10. The majority of rare diseases are genetic, so the disease is present from birth though the symptoms might not appear until later. Half of those afflicted with rare diseases are children and 30% of children afflicted with rare diseases die before their 5th birthday. (source- Global Genes Project)

Today and every day, we 'care about rare' and celebrate our rarest. For more information about rare diseases, visit http://globalgenes.org/. 

Happy 4th to Matthew!

Matthew is 4 years old today! 

He is a fun-loving, sweet kid who loves
-school
-family
-friends
-riding fast on his scooter
-his tricycle
-dogs, especially Padme
-squeeze hugs
-cereal and
-Mickey Mouse.

Happy birthday, sweet boy!

Tomorrow

This morning I (half) joked with Darren that today is the four year anniversary of the last day we were blissfully naive.  Four years ago, we were a typical family of 4, anxiously awaiting the arrival of 'Tres'. 

We knew nothing of Holland.  We didn't know the importance of having just the right amount of DNA.  We were unaware of many of the pediatric specialties we now see.  We didn't know directions to Texas Children's Hospital.  We had never seen occupational therapists, physical therapists, speech therapists, or early interventionists.  We didn't know medical terminology or deep anatomy.  We hadn't been exposed to sign language or AAC applications. We'd never met anyone with missing thumbs. We didn't know anything about special education, or IEPs, or ARDs.  We'd never considered abdominal surgery, head surgery, heart surgery, urology surgery, or vascular or throat anomalies.  We'd never taken a child to the ER or waited for them to come out of the operating room.  To that day 4 years ago, we'd never really experienced bone chilling fear and worry.

Then came Matthew.  With him, we found much more than the innocence we lost.  We found love-- all around us and in unexpected places. We learned patience (though, still working on that).  We got an education in anatomy, medicine, therapies, and special education. We learned to appreciate the smaller moments.  We met doctors and nurses, office staff, therapists, and teachers that care for our family.  We were blessed with good medical care at a world class facility.  We learned of others' journeys.  We received much needed and very appreciated support from family, friends, and even strangers.  We began celebrating all achievements-- not just the big ones.  We experienced joy like we never knew before. We learned the value of a second, an hour, a year, and now four years. 

We weren't sure Matthew would live to see his first birthday, but he did.  Then, this past April, we weren't sure he would live to see his fourth birthday, but tomorrow, he will! 

We are oh, so, very thankful...maybe not for the innocence lost but for our sweet and amazing Matthew. 

Mattie checking out Ernie's nose.

Happiness Is...

First piano lessons and practicing without being told.

New magazines in the mail.

Breakfast outside in new Mickey Mouse shades.

BBQ after pajama day at school.

Heads Up: World Rare Disease Day 2014

World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families.  The seventh annual World Rare Disease Day will be held on this Friday, February 28, 2014. On this day, various activities take place in the United States, Europe, Russia, Japan and elsewhere around the world. (source:  Global Genes Project)

How very fitting that the day is the day after Matthew's birthday!  Please join with our family on Friday to celebrate Matthew and the 300 million people worldwide like him with rare and genetic diseases by wearing your favorite pair of jeans.

In addition to wearing jeans on Friday, if you'd like to raise awareness year round and show you 'care about rare', please drop me an email with your address and I will send you a magnetic blue jean ribbon for your car.  We have an abundance we'd like to share. 

From Matthew and our family, thank you!

One Wish

The other day, I was thinking about the kids and wondered to myself, "if I could have one wish, only one wish, what would it be?"

You'd think maybe I'd wish to change Matthew's diagnosis or want the world to be a nicer place or something that would make it easier for the kids.  Those ideas did come to mind, but there is one wish that dominates my thoughts-- that my kids be blessed with great teachers throughout their educational lives.  I think that one wish would influence everything else as the impact of teachers in their lives is so great! 

This year, 2 out of our 3 kids have great teachers. One does not, and the difference is jarring and disturbing.  The influence of teachers is great-- both good and bad.  I wish, hope and pray going forward that they all be blessed with good and great teachers!

Big Kid

As we near Matthew's 4th birthday next week, we are reminded in many ways that he's getting to be a big kid, besides the calendar.

Within the last few weeks, Matthew has given up his daily afternoon nap.  Yippee- in that it is developmentally appropriate to give up that nap and we are no longer tied to his nap schedule.  Boo- in that we will miss the afternoon 'quiet time'. 

This past weekend, we dismantled the toddler bed in the boys' bedroom.  Matthew was only really sleeping in it at nap time, and since that doesn't happen anymore, off it goes!

Also this past weekend, our sweet neighbor friend snapped some pictures.  When I saw this picture, I thought 'wow, he looks like a big kid'.

Favorite Bits

The last 4 days have been near perfect.  Warm weather, sunshine, and happy kids and parents!  Here are some of my favorite bits:

Jackson addressed his Valentine cards without incident this year,
and even asked if he could help me do Matthew's! 

Snuggling on the couch with the kiddos is one of my favorite things in the world.

Matthew LOVES Mickey, and tried to kiss all of them at the Disney Store on Saturday.

The 'bobsledders'.
This weekend, we had a street Olympics, complete with downhill bobsled and luge.

CHD Awareness

This week is congenital heart defect awareness week. 

Matthew was born with a few CHDs-- an artial septal defect (ASD) that closed on its own, a bicuspid aortic valve that is still functioning well, though likely causing his dilated aortic root, and a patent ductus arteriosus (PDA).  

Because Matthew's undiagnosed PDA was sending 4 times more blood to his lungs than usual (which caused the pressure in his lungs to be dangerously high) for his first 7 months of life, Matthew's heart was 'overcirculated' and he was in congestive heart failure in the Fall of 2010.  His organs were filling with fluid.  He was gray and lethargic.  Then, an amazing cardiologist inserted a tiny coil into the ductus arteriosus.  Tissue formed around the coil and blocked that unusual pathway.  Today, Matthew's heart is strong!

We usually celebrate Matthew's heart day on October 7th, the day his heart was 'fixed'.  This year, this graphic caught my eye on Facebook and I didn't want to let the week pass without at least acknowledging this special cause. 

Sweet Routine

Oh, sweet routine.  After last week's 5 hours of school, Alyssa got sick over the weekend with a random fever which continued on and kept her out of school on Monday and Tuesday.  After not seeing the pediatrician for months, we are seeing quite a bit of her recently.   Thankfully, no flu or strep and the fever finally broke by Tuesday morning.

At the pediatricians office

Also on Tuesday morning, we had yet another delayed start due to freezing precipitation.  Though I enjoy the relaxed morning routine, it makes the kiddos a bit crazy.  Yesterday, Matthew and Jackson got into a tussle where both ended up in time out and Jackson ended up with a big bruise on his face, all before 9am.  Not a good morning for the Hoy boys.  After the time outs were served and the tears dried, thankfully they got off to school without a hitch.

Hopefully starting today we'll be back in to regular routine! 

Darker, Sadder Moments

We love Matthew beyond measure. We know we have a LOT to be thankful for, so it makes the thoughts below seem even more wrong, but I can't deny that some moments are a bit darker than others.
 
For the last several months, I have had a renewed sense of mourning about Matthew's diagnosis. I'm a little embarrassed to admit it as I thought I was over the mourning.  Matthew made it past his first year, and the scary stuff became but a speck in the rear view mirror. With that, I stopped mourning.  And then this last Fall, it hit me again.  I've again taken to crying in the shower and tearing up at random thoughts.  I thought I was over landing in Holland, but I guess I'm not. Thankfully, I feel like I'm once again coming out of it, so I feel like I can finally write about it.

With Matthew being one of a kind (literally), I said we had no idea what to expect with him.  Even though I said that, I think I expected by the time he was 4, he would be a pretty typical kid, maybe a bit delayed, but doing all the things a typical 4 year old does.  Though there are lots of ways he is similar (walking, riding a trike, eating, etc), it is becoming more and more apparent this is not the case.  He prefers toys well beneath his age group. He still has temper tantrums where he is inconsolable.  We are still changing diapers.  He still doesn't talk. 

As well, I always envisioned him mainstreamed in school.  Though that may happen, I am beginning to think it will only be possible with a large helping of special education services.  Imagine how different your schooling (or that of your child) would be if you couldn't talk.  Because he doesn't talk, we often assume he doesn't know something, when in fact, we just don't know how to get the information from him.  He is going to challenge his teachers, his aides and us.

I think one of the reasons I envisioned him mainstreamed was because I didn't want to see him as 'special needs'.  But that is what he is, how he will be perceived, and (some days) even how I see him.  It is beyond the uniquenesses I've written about so many times (lack of thumbs, asymmetric ears, etc).  Some days I'm so very sad how 'special' he appears.  It is his 'crazy eyes'.  He can make his eyes turn together and back and he does this at random times.  Every time I catch it on film, I erase the picture immediately.  I am coming to the realization that I can erase it from my camera, but it doesn't erase the fact that he does it.  At the park, he will make shrieking noises no one else makes.  Kids who don't know him stare.  His shirt is sometimes wet with drool.  He freaks out at the library because I won't let him on the computer, so he pulls rows of books off the shelf.  He is that kid.  Some moments, I'm embarrassed he's the special needs kid and then I feel horrible because I'm embarrassed. 

I don't know if Matthew knows he's different. He doesn't seem to recognize that his hands only have 4 fingers while every one else's hands have 5. He isn't phased when he says things that no one else understands. He is just a happy, happy kid. We always say that 'every day is a good day for Matthew.' For that, we are very thankful, but even that isn't typical.

And, oh, the irony. When we decided to have baby number 3 (nicknamed 'Tres' before he was born), we decided to time his birth earlier than our original plans because of a trip to Disney World.  On that trip, there were two 8 year olds, two 5 year old, a 3 and a half year (Alyssa) old and a 2 year old (Jackson).  The difference between the 8 year olds and our kids seemed huge.  Our kids wanted to see shows and meet characters while the 8 year olds wanted to ride the rides.  Darren and I wanted to avoid 'having every day be our Disney World' by having 'Tres' a bit closer in age to Alyssa and Jackson, but, with Matthew, every day is our Disney World.  I hope that will change, but I fear it will always be the case.

We landed in Holland when we were supposed to land in Italy.  It's not all bright and shiny, but my hope is that the bright, shiny moments, to which there are many, keep overpowering the darker, sadder ones.

Something Better

A few months ago, Matthew lost my wedding band. (Yes, he is good at losing things.  We never found the car keys he lost!) He was in the habit of grabbing my ring from my nightstand every morning and putting it on his finger.  One morning, I didn't get it back quickly enough and it was gone.  I searched through the bedroom and after it didn't turn up there, I had hoped it would turn up when the cleaners came.  No such luck.  So, after several months with no ring, I started contemplating buying a new band, a little sad that it wouldn't be the band we used to exchange vows. 

I didn't buy a new band because something better came along.  I now wear my grandmother's and my mother's bands.  Though they aren't my band, I love to look down and see the wedding bands that represent 116 years of successful marriage (and still counting).  116 years! 

I've often heard that you have to let go of the old to let something better come in.  I guess in this case, Matthew helped me with that!

5 Hours

Monday, Tuesday, and Wednesday this week were teacher in service days.  At first I balked about this, as it seemed a bit crazy after a week off at Thanksgiving, 2 weeks off at Christmas, MLK holiday, 2 'snow/ice' days, and 1 delayed start in about 10 weeks.  What I didn't think about when I first balked at the idea was the beauty of traveling when no one else had off!  (Cheap airline tickets!)  We visited friends in Florida and it was absolutely perfect.  The weather there was ideal and the time with friends was priceless!  I am a 3 day "winter break" convert!

So, we were supposed to at least have school Thursday and Friday this week, but Thursday was a delayed start due to potential ice and today was an 'ice day', though I don't see any ice (yet).  So the kids spent a grand total of 5 hours in school this week.  Today, we are trying to stay sane by watching movies (Cloudy with a Chance of Meatballs 1 and 2) and sprinkling in crafts (drawing and duct tape crafts).  I'm really ready for winter to be done!

Matthew's morning masterpiece.

Resonating Images

I've had a few Facebook images floating through my head lately. 

This was posted by a sister of someone with a rare disorder.
This is often true when it comes to Matthew.

My obsession makes sense now-- books=love.

As we begin to think about Matthew in the educational system,
this is a very important graphic representation of the words used in the discussions.

This is how I feel about Matthew.

Some days, the 'success' bar is set pretty low in my house and
I'm becoming okay with that!