Microcephaly

Here is a photo that can maybe help answer some questions I've gotten about microcephaly.  Microcephaly literally means "small head".  It is actually fairly common (2-3% of the population could be considered microcephalic).  For someone who is very small, it would be expected for the head to also be very small.  Isaiah is small, however because his head is also small for his body it has become concerning.  Isaiah is the size of an average 14 month old, but his head is the size of an average 8 month old.  So, if Isaiah was 14 months old (so his size would meet his age), he would still be considered to have microcephaly with his current head circumference measurements.  If, at 21 months of age, Isaiah was the size of a 14 month old, and his head was also the size of a 14 month old, that would be far less concerning, since his head would be porportionate to his length.

If you google microcephaly you will get all sorts of photos of individuals with varying degrees of micro which I think is confusing for people.  Isaiah's is certainly not as severe as some children's and for the most part we don't even really notice the difference when looking at him until he is next to children of the same size (length) as him.

I've had several people ask what this diagnoses means for Isaiah, and the answer is simply 'we don't know'.  He will likely always be very petite.  If you calculate his likely adult size based on his current length he would be about 5ft as an adult, give or take a few inches, but those predictions can be very inaccurate.  He may have a harder time in school, or he may catch up and show no differences in learning.  We just don't know.  What we do know is that Isaiah is getting every resource we can provide him him with in order to reach his full potential, and he has an incredible support team of family, friends, and therapists with absolutely no lack of love and affection.

Evaluation Update

Isaiah had his 4 month evaluation at the CDD today.  Here's the quick update (I'm exhausted so I won't go into much detail...feel free to call or email with questions, or if you want to hear the more detailed version)

Gross motor Isaiah is still at a 10-12 month level.  So unfortunately there was no real improvement since he was evaluated at a 10-12 4 months ago.  She noticed improvements, but since his progress is so much slower than a typical child, it still puts him in that same age range.  Bummer.

Speech he's around a 12 month level.  He was at a 8-10 month level, so that's pretty good progress.  Pretty much the speech gap isn't closing, but it isn't getting any wider so that's good.

The best news of the day was that in fine motor he scored at a 16-20 month level, which puts him close to his actual age (21.5 months).  That gap is shrinking!

Isaiah was Dx with microcephaly at his last evaluation, and unfortunately his head growth is still a concern.  They also diagnosed him with 3 other forms of cephaly (I can't remember which ones without going to check on his discharge report).  One had to do with head shape, and the other had to do with the measurement from the front to the back of the head.  At this point it's time to do brain scans.  Not happy news for me, as he will have to be put under general anesthesia, but the good news is that we've already met our insurance deductible, so it should be fully covered.

His nutritionalist was happy with his weight.  He's 21 pounds, and 30.5 inches.  He's small.  He's in the 0.1 percentile for his height, but his height to weight ration is great, so he's getting enough nutrition.

So that's it.  He should be scheduled to go in for his scans in the next 2 weeks.

UPDATE:  I forgot to mention in the initial post that she also mentioned that Isaiah's reflexes are brisk. I'm not really sure what that means for Isaiah, but it can be caused by some neurological things.

UPDATE #2:  These are the additional cephaly dx and a description.

     *BRACHYCEPHALY occurs when the coronal suture fuses prematurely, causing a shortened front-to-back diameter of the skull. The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull.

     *Positional Brachycephaly 

     * PLAGIOCEPHALY results from the premature unilateral fusion (joining of one side) of the coronal or lambdoid sutures. The lambdoid suture unites the occipital bone with the parietal bones of the skull. Plagiocephaly is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. It is a common finding at birth and may be the result of brain malformation, a restrictive intrauterine environment, or torticollis (a spasm or tightening of neck muscles)

Oh, Eli

Eli.  What a kid.  Anyone who knows him, knows what I mean.

Eli is 3.  He is smart, and playful, funny, adventurous, (a little naughty), and the kind of boy who, at the end of the day if he's not covered in an inch of grime, must be sick.  He owns several pairs of shoes, but never keeps them on more than 3 minutes at a time, he likes to catch beetles and worms but thinks  butterflies are horrific.  He likes to catch turtles with his daddy, fishes with his net, and builds dirt pile towers.  He loves 'mighty machines' and will walk around with bleeding knees as if he doesn't even notice he's just whipped out.  He always has a knot in his forehead, and dirt in his fingernails.  He's golden brown with bleach blond hair all summer long, and runs around outside in his jammies, just because he doesn't want to waste time getting dressed.  But best of all...he's a bit of a momma's boy.  He's a cuddle machine, gives nose nuzzles and snuggles into the space between my shoulder and chin when he's tired, or just on occasion between his wild adventures.  If he has a bad dream he won't make a sound...just quietly crawl into bed with us and snuggles close.  

He has the sweetest voice you'll ever hear.  He's a little hard to understand sometimes, and thinks grabbing our faces between his hands will help us understand better.  He likes Luke Skywalker, and Captain Hook and LOVES Curious George and thinks Buck Denver is the funniest thing around.  He sings in the car, which could melt the hardest of hearts.  At night before bed you can count on him asking for a story from daddy and I can hear him giggling and squealing from downstairs in the kitchen while he listens to his bedtime adventure.

He looks like his momma, but acts like his daddy.  He is the perfect mix of wild little boy, and loving child.  Another one of a kind, good hearted, little Mize boy.

All About Noah

I've been using this blog primarily as a means to share updates about Isaiah's issues and progress but I wanted to give Noah and Eli each a post of their own.  They have also changed so much in the last year, and while I may not talk about them as much on here, they are just a fabulous and deserving :)  I have been blessed with 3 of the most amazing children there are.  I know every mom says that...but it's actually true in this instance ;)

Noah is going to be 5, FIVE, in 3 months.  I can remember 5 years ago being big and pregnant, enjoying his hiccups (seriously that's all he did in there) and waiting impatiently to meet him.
And here we are, 5 years later, talking about birthday party plans, starting school next year, and wondering where the time has gone.  When people stopped me with a brand new baby and said things like "enjoy this, time goes by way to fast" I mostly rolled my eyes thinking 'time will go exactly as fast as it always has'.  But I was wrong.  Somehow things just speed up when you have little ones.

Noah is not your average nearly 5 year old.  He's wise beyond his years, caring, hyper aware of everyone's feelings and tender, and caring, and loving.  Last week I came down with the stomach flu and Noah was the one taking care of me while Daddy was off at work.  Noah got me diapers for Isaiah, he got me water and crackers and helped get Eli and Isaiah fed.  He filled sippy cups with milk for Isaiah, and poured himself and Eli drinks.  Seriously, what 4 year old does that?  He said things like "mommy, I hope you feel better", and "mommy, how's your tummy?"  He woke up in the morning and got clothes ready for Eli.  He got movies started so I could sleep in.  What 4 year old does that?

Not only is he helpful and caring, kind and considerate, but he's hilarious and imaginative.  Today he told me, as seriously as possible, "I'm no longer a boy.  I'm turning into a super hero and you must now call me Memory Man".

And not only is he helpful and care, kind and considerate, hilarious and imaginative...he's growing into the kind of Godly man I hoped he would.  He has started (and these are his words) 'sharing the good news' with people.  I have overheard him have conversations with his friends where he says things like "Did you know Jesus died so we could go to heaven?  And now he is no longer dead".  It's simple, but it's the start of something amazing.

I have been blessed with three, one of a kind, sons.

Summer update

We've had a pretty eventful summer so far.  We've spent several hot days at the children's museum, taken trips to the zoo, swimming pool, a trip to Missouri, a few parades (which Noah was in with his tae kwon do school) and lots of therapy changes for Isaiah!  In May we added speech therapy to his IFSP, at the end of May we learned that Isaiah's service coordinator would be taking a leave for 4-5 months so we were temporarily assigned to another, and in mid June we learned that his teacher would be retiring at the end of the month.  We have not yet met with the substitute service coordinator, but we have met with his new teacher and we really like both her, and our new speech therapist.

Physical therapy is going well, Isaiah is using his walker really well, and actually enjoys using it which is exciting for us.  He hasn't made any huge improvements in the last few months, just perfecting what he's already doing.  He is cruising along the furniture, and crawling as quick as can be.  He has also started climbing onto the fireplace ledge, his rocking chair and other close to the ground obstacles.  Our hopes are that he will be able to stand unassisted, and maybe even taking a few steps on his own by his second birthday (which is only 4 months away!).

We've only had a few sessions with his speech therapy but he has been doing well so far.  He's a quiet kid, but he's making more sounds.  His meaningful words (used regularly) are 'Mama', 'Dada', and 'up'.  We have just started hearing him say 'thank you' fairly regularly as well.  He can't speak much, but when he does he's polite ;)  

Isaiah hasn't had feeding therapy since May but he will go back every day for a week in August to work through some of his troubles and have been documenting each time he chokes or gags to decide if he needs a swallow study done.

So that's about it!  Isaiah's next round of evaluations at the Center for Disabilities and Development is in about 6 weeks, and he sees the geneticist in November.

Normal.

We got a call from the doctor Monday.  Usually when they call it's bad news, and good news you just find out online in the patient chart, so naturally when I saw the CDD's number pop up on my caller ID I about tossed my cookies.  But it was good news.  Or at least not bad news.  She told me that Isaiah's microarray test came back normal.  I was elated for about 2 second before she kept on talking.  This is good news, but it doesn't mean there isn't a chromosomal abnormality, it just mean he doesn't have any of the chromosomal abnormalities that the microarray can detect.  So we will, for the time being, just do what we're doing until we meet the geneticist this fall.  He will be better able to pick and choose specific tests to run based on Isaiah's symptoms to test more specific genes, if he feels as strongly as the developmental pediatrician does about the possibility of a genetic disorder being a possible answer to his delays.  And while I really do want some answers, I am happy to say that no answers are better than bad ones.

May.

May has been one of the craziest months on record for our family.  Isaiah just finished his last of 14 appointments for the month!  He had his ultrasound, genetics testing, nutrition, physical therapy appointments, speech, his teacher visits, an IFSP meeting, feeding therapy his 18 month visit and an trip to the doctor for an ear infection.  I'm pretty exhausted, and very happy to see the end of May.  I am also trying to come to terms with the idea that doctor visits, therapies and arguments with insurance are just a fact of life now.  I don't know how long this will go on for, but I do hope I can get used to all of it.

Isaiah had his blood draw for the micro array chromosome testing done a little over 2 weeks ago.  I'm getting antsy for the results which will hopefully come in just another couple weeks.  His ultrasound came back completely normal, which was just what we expected :)

Next week Isaiah will be getting a walker.  We are excited to get him up and going, and I think he will really enjoy being able to chase after his brothers a little better :)  Here is a picture of what they are bringing for him

So that's the latest from the Mize clan :)  Noah and Eli are still doing amazingly well.  Noah is getting really good with reading/writing (he even wrote the word paper on his own, without help, just by sounding it out...he spelled it PAPRE, but it's still pretty awesome for a 4 year old).  Eli is working on learning how to write all the letters in his name, but beyond E, L and I he has absolutely no interest in writing, which is just fine for now.  Noah is going to an all day camp on June 8th, and this will be the very first time he has ever been anywhere without a family member, so I'm pretty nervous, and he's pretty excited!  And I think we'll use the day for a mommy-Eli date :)  

A little update

In my last post I mentioned that the chromosomal testing was recommended based on Isaiah's delays, size, as well as several congenital abnormalities.  Since then I've had several people ask what those abnormalities were so here's the list she had in his report:

Microcephaly
Pre-auricular pit
Flat nasal tip
3rd toe underlapped bilaterally
Unilateral undescended testicle
High pitched unusual cry
Small stature
Delayed developmental milestones


Since that appointment we have gone ahead and scheduled his ultrasound (because of the association between ear abnormalities [his ear pit] and renal anomalies) for next week.  We are still playing the back and forth game with insurance to see if we can get the chromosomal testing covered, but I am hoping they get it sorted out so we can have the blood draw done that same day.  Once we do the draw we should get the results in 4-6 LONG weeks!  We have also been referred to genetics for a genetic consultation in November (no clue what they will do) and we will be back in for another evaluation in 4 months with the whole CDD team.

What A Day.

Isaiah was a trooper today!  We love the CDD and their amazing staff.  This morning we checked in at 7:30 and the front desk staff greeted us with a "Good morning Isaiah!" before I had to tell them our name.  They went over our schedule for the day and we waited on the psychologist who was doing the IQ testing.

Isaiah did really well with the IQ testing.  While I didn't really think he had any intellectual disability, I had still been completely stressed out this week waiting for the testing to be done.  Isaiah scored right in the normal range which means there are no cognitive delays!  She also scored his social skills which dramatically improved since December.  In December his social skills were that of an average 4 month old.  Today he was scored at an average 17 month old level so he is completely caught up socially :)

Later in the day he met with his neurodevelopment pediatrician who did an exam and talked about what's been going on.  Isaiah was born with an ear pit, and since children with ear pits are at a high risk for kidney problems she wants him to have an ultrasound done to check on his.  She also said that because of a few of his 'oddities' she thinks he may have a chromosomal abnormality, so we are going to have chromosomal testing done on him.  So as soon as she calls and sweet talks our insurance to try and get it covered we will set up an appointment to have the ultrasound and testing done in the next few weeks.  (have I ever mentioned how much I hate dealing with insurance?  Because I really hate dealing with insurance).

Next we met up with the nutritionalist who wants us to set up a swallow study to check on his frequent choking.  He's getting MUCH better with chewing and swallowing food, but he is still choking way too much.  I really believe it's just immaturity with his eating skills, but I will speak to his feeding therapist when we meet with her next to see what she thinks.

We finished the day with the Physical Therapist, Speech Therapist, and Occupational Therapist.  I was a little disappointed with what they had to say.  I was really expecting month to month progress, but in the past 4 months he made about a months worth of progress in speech and gross motor skills, and no progress with fine motor skills.  Despite the numbers, he has made great improvements, but we will be increasing his physical therapy, and adding speech and OT.

I'm pretty nervous about the kidney and chromosomal testing, and am feeling a little blindsided by it...but it's starting to sink in, and we will just keep moving forward as always.

Getting there.

Slowly.  But he's making progress.

Speech/Language:  He is pretty much only saying Mama and Dada.  He occasionally says a 'hi' noise when he is playing with a phone, and he used to say fish, but hasn't said it in months.  I have noticed he has trouble saying Dada after saying Mama and vice versa.  If he is saying Mama and we ask him to say Dada, he continues to try and make the ma noise before finally getting the da out.  He sees the speech pathologist next week at the CDD so I'm going to bring that up.  I know it seems like a small thing, but with the feeding troubles combined with speech delays a few things were brought up in the past that make it more worrisome for me (mainly speech apraxia)

He is however doing really well with sign language.  He has a couple signs he uses regularly throughout the day (milk and more) and one we see occasionally (all done...but it doesn't look all that much like the actual sign for all done).  We are working on a few that will be helpful in knowing what he wants (eat, sleep, book, bath).

Physical:  Isaiah is cruising along the furniture now!  The goal for his 18 month review is to be standing independently (not holding onto anything) and while I'm not sure we will get there in a month, he will be there soon!

Cognitive:  Isaiah's cognitive testing has been moved up to next week so I'll be able to update more after that, but he's doing some really great things!  He started blowing kisses occasionally, he waves bye-bye pretty much every time we ask, and he seems to be understanding us, and following very simple directions.

Feeding:  Eating well, transitioned to a sippy cup and gaining weight!  The 3 week intensive therapy is off the table for now.  He goes back to see his feeding therapist in May and I'm thinking we will start going less frequently after that appointment :)

Tuesday is his testing and evaluations.  My prediction is that he is still about 6-8 months delayed...But making month to month progress is really all I wanted :)