Genetics 101

Over spring break in California, we received a phone call regarding some blood work that was done on Miles.  We learned that he has what is known as a "significant chromosomal abnormality".  This last week we were fortunate enough to get to go to the geneticist's office and learn more about what that means for him....and us.  SO, here I go..  Welcome to Genetics 101.  Pretend like you are in 9th grade Bio again, and know nothing about genetics...oh wait, that may not be too much of a stretch of most of us.  :-) 

When our bodies are knit together in our mother's womb we get one set of chromosomes from our mom and another set from our dad.  Miles' condition came about when his 18th chromosomes were sorting themselves out.  Eric had the same blood work done that Miles did and as it turns out, Miles was given a faulty chromosome from his Pa.  Eric (and therefore his identical twin, Greg, too...but more on that later) has all the right genes on his 18th chromosome- but in the wrong order.  This doesn't create any issues for Eric himself...but it can as that scrambled chromosome gets passed on to a child. 

When your chromosome from your mom meets your chromosome from your dad, they each split in half and swap halves.  (This way when you pass chromosomes on to your children you aren't passing on just your own mother OR fathers DNA...but a combination...got that?)  Because the genes Miles received from his dad were out of order, when the split and swap action happened he ended up with some genes missing in vital areas of the chromosome.

So where does that leave Miles?  It leaves him with a name for most his issues:  18q deletion or 18q-.  In other words, he's missing some genetic material on his 18th chromosome.  We can attribute his low muscle tone, flat (and misaligned) feet, narrow ear canals (thus the inability to pass a normal hearing test), lazy eye, speech and communication delays, developmental delays, and total lack of coordination to this condition.

The doctors have encouraged us to start the application for disability benefits as they anticipate that he will indeed have long-term assistance needs beyond what we may be typically capable of providing.  They encouraged us to remember that he WILL walk, he WILL talk, he WILL potty train, etc...it will just be harder and take longer than his peers. 


Now, back to Eric's twin, Greg:  he and his wife are currently due with their 4th child in August.  Seeing as identical twins have identical genes...please pray that the baby would be born healthy with a totally normal arrangement of his 18th chromosome.

We are very thankful that God has placed Miles in our family and know that He is growing us as well as Miles every day.  Thank you SO MUCH for praying for us and for Miles.  Thank you for continuing to pray.  Thank you for the meals, babysitting, calls, emails, and just general love that you all have shown us over the last several months.  We thank God for you daily....honest!!!  :-) 

Trees.

We took the kids to the park to play on the toys...they decided that playing in the trees was better.
Here's Miles and Grandpa. Two handsome dudes.

Some kids, some Grandparents, and some shadows from those fun climbing branches.

Cute girl and her pops.

Sam, smiling. Or at least that's what I asked him to do.

Ridin'

We took advantage of the dry weather and rode bikes...we rode..

...and rode...

...and fell.

A break in the silence.

We flew south for spring break again this year, and were richly rewarded for our travels with 70+ degree weather and blue skies most of the week. It was WONDERFUL. (Have I ever said that I miss California weather? Well...I do.) Here is a snapshot of some of the things we did while visit Grandma & Grandpa Viertell.

We were hosted to a morning of fishing (the kids' first time!) at Horseshoe Lake with my Uncle Goat and Aunt Sandy. They were very kind to the kigs and bought them fishing poles, little tackle boxes, and a net. They both really enjoyed their fishing experience (even if there were no fish that AM), although I think Sam literally had the time of his life. He's been asking when we'll go again...(not real soon, Son, Mommy and Daddy don't have licenses.)

Miles absoltely loved having a dog around for the week. He spent his time inside trying to show Amber his deep love for her. He loves her so much that he actually spoke what may be his first real word: 'oggie. Now of course he is home and there is no dog, therefore no 'oggie either.

Can you hear me yet?

Since I pledged to keep this a wee but more updated, here's an update:

Miles has more hearing tests today.  He did really well, but we still left with another appointment.   Argh.  He responded to A LOT more than he did on his last test, so that's really (REALLY) great news!  He still is not responding to high frequency sounds- that are at a low decibel.  SO, back we go in two weeks for some more tests.  At that point we will either leave with confirmation that he can hear just fine and has no hearing loss (at least at this point) or an appointment for "surgery" so they can do a fancy test on him while he's knocked out.  I have high hopes he will respond to whatever they throw his way in two weeks, but am expecting we'll be headed to the OR for the fancy schmancy one.  His developmental (and sensory) issues make it difficult to test his hearing.  Silly Miles....don't you realize that if you just do what they ask then Mommy won't have to take you back??  :-)

Meanwhile, Sam and Maggie are doing great.  I think they like Miles having so many appointments.  This morning they got to hang out with Grandpa (thanks heavens for that long elementary school spring break!!) and even walked to Rite Aid and snagged some goodies.  Some sugary goodies.  They are in heaven.  Thanks Grandma!!!

Pity Picture.

Here are some recent "fun facts" about the youngest in our branch of the Moffat Clan:
- Miles had 6 appointments in a 10 day span two weeks ago. Mommy had an emotional breakdown shortly thereafter.
- Miles averages 2-3 appointments a week right now...he's rarely cries during them and has been a real trooper as a plethora of people inspect his every move...over and over again.
- Miles is having some kind of growing spurt, recently jumping from his norm at the 20% to the 50% of kids his age in size.
- Miles is currently functioning at 9-12 month levels in most areas of his development.
- Miles (most likely) will be getting hearing aides sometime in April. More testing soon....
- Miles soon will be sporting ankle braces to help stabilize his joints so he can learn to walk.
- Miles has ragamuffin hair right now. We're aiming to grow it into something semi-trendy before the hearing aides come along.
- Miles is learning that biting to show frustration is never a good choice. (Sam is learning that causing Miles frustration will result in getting bit himself.)
- Miles is discovering that asking "please" (sign language) will get him almost anything because Mommy is SO GLAD that he is attempting any form of real communication.
- Miles is experimenting with a little walker to help him gain some confidence (and balance!) so he can do it on his own soon....or at least that is our prayer.

So there you have it. Miles has been keeping us rather busy and somewhat emotionally thrashed lately. Eric's parents graciously took the kids for a night last weekend (for Eric's Birthday) and we celebrated our quiet night with a 12 hour stretch of sleep. Apparently we were both a wee bit tired. It was glorious. Hopefully posts will start coming slightly closer together soon...I can't make any promises, but it is my intention to keep ya'll a little more up to date. Thank you for praying for Miles and our family as we learn what it looks like to have a special needs kiddo and sort out what things we can (and can't) help him with right now. It really, truly, means the world to us.
:-)

It could be a messy road....

Yesterday I started Miles in a Dairy and Gluten Free diet. Today I forgot that I didn't have ANY lunch meat nor ANY peanut butter....so I threw the diary free part out the window (sort of) and had to give him nutella (which has milk in it btw) toast (brown rice bread toast that is...) for lunch with his apple and goat cheese. What a mess. What a snotty, sticky, goopy, smelly mess.

BUT, he did eat it - goat cheese included once I spread it on his apple. Good job Mi. Good job.

What we've been up to.

Dinos gearing up for the attack....

Princesses linking arms hoping to fight off the oncoming dinos. (ok, so maybe they didn't link arms....but that would have been a good idea, eh?)

And my quilt! Okay, it's actually going to be the new (and rather large...but bigger is almost always better when it comes to blankets, right?) throw for the couch. The top is about 3 minutes from DONE. Then I get to go back to the fabric store to pick out some batting, backing, and binding. Try saying that three times fast...