Fourth Time's the Charm? Another EEG...

Aunt Melissa met us for breakfast in the Cook's cafeteria after our 8 am appointment this morning.

I didn't put much effort into this post, so I'm sorry in advance for how poorly written it is.  I'm just too tired to try very hard to assort my thoughts into a pleasing order.

When we scheduled the MRI for Hayes in August and expected to see our neurologist to discuss the results in the following November, we had no idea the events that would transpire that would lead us to meet with the doctor an entire month early.  Never would we have expected the events that could occur within a matter of weeks.

So it happens that in the six weeks since the MRI, we have witnessed Hayes have countless seizures, visited the children's hospital five times, watched Hayes endure the EEG procedures four times, administered three different medications 94 times, missed a lot of days at work, and driven even more miles.

It. has. been. crazy, up. in. here.

Today, we finally met again with the neurologist who's been with Hayes since he was younger than six months old.  He gave us a wealth of information, compassion, and comfort.  We like him because he is straightforward in his discussion and treatment approach.  We reviewed Hayes' MRI and EEG results, responses to medication thus far (we began ONFI last Friday night with good results, and began tapering off the steroid yesterday due to the undesirable side effects and the fact that he was still having seizures LIKE WHOA), and discussed the future (as far as the next few months).  He (the doctor) ordered labs, an ambulatory EEG, planned for an upcoming spinal tap (to check for metabolic conditions that may be causing his underlying brain disorder), and answered our questions for over an hour.

We'll be checking this EEG unit every hour or so for its blinking yellow light, which means the brainwaves are still being recorded.

After being at Cook's rather longer than we'd planned, we brought Hayes home once again hooked up to his EEG gear.  (An ambulatory EEG is completely mobile - we brought the whole EEG unit, which is about the size of a paperback novel - home with us.)  We'll be monitoring his brain over the next 24 hours to assess how well the ONFI is actually working, and then Koby will return the EEG unit to Cook's tomorrow.  If the medicine is not working as well as we'd hoped to stop the seizures, we'll increase the dosage and/or begin ACTH injections.  The ACTH injections carry a less-than-attractive array of side-effects and risks, but prove effective quickly when most other medicines fail.

The reason we're treating these seizures so aggressively lies in the diagnosis that was added to Hayes' collection today: West Syndrome.   This is a rare form of epilepsy that occurs primarily in infants (which is the only reason the epilepsy specialist did not attach this name to Hayes' seizures - but our neuro says, and I quote, "If it quacks like a duck...") and can occur for a variety of reasons, but generally leads to unfavorable long-term consequences if the seizures cannot be completely eradicated.  If uncontrolled, Infantile Spasms can evolve into a lifelong epileptic condition called Lennox Gastaut Syndrome (LGS).  (Please note that Hayes does not have a diagnosis of LGS right now.)

Even though this a brand new diagnosis, Koby and I aren't blindsided by any of the information we got today.  The worst part of the day happened as Hayes was getting his EEG underway; the tech was testing all the connections and watching his brainwaves on the monitor and...

I think he had a seizure.

Total nightmarish feeling.  Very, very bad feeling.  Please pray with all your might that the little blip I saw on the computer screen, that the instantaneous flinch of his precious body was the LAST SEIZURE HE'LL EVER HAVE.  I'd really appreciate it.

At the conclusion of our appointment this morning, our neurologist casually added, "Oh! And thanks for the blog."

Apparently, there is an employee whose job it is to scour the internet and social media for mentions of Cook Children's Hospital and see what's said... which gives me an idea.  (It also gives me an idea for a serious career calling that I totally missed - this girl can Google ANYTHING.  I've probably done two bachelor's degree's worth of research on Wikipedia.)

Hey, Cook Children's Hospital (a.k.a. Cook's, conveniently located in Fort Worth, Texas for your convenience), you know what would be awesome?! Why not start an EEG customer loyalty program?  You know, BOGO offers?  Punch cards?  Frequent flyer miles?  Just a thought... (Cook Children's.  :-) )

Peace out, dudes and dudettes.

We Can't EVEN - a.k.a. "A Feeble Thanks"

Y'all.  I can't even.

Sweet Snap from Eliz's bff.

Can't wait to wear our Hayes Bear shirts! XOXO MLE

(Yummy surprise on our doorstep from my sister's best friend.)

A church sister read about my disdain for washing/sorting socks... so she brought new ones.  HA!

Sweet Snap from one of my BFFs and her BBF (beautiful baby face).

Since our last post about Hayes' seizures, and even since we'd mentioned our concern about his 'spasms', we've been

overwhelmed

with an outpouring of love, prayer, encouragement, and generosity.

I'm not even posting pictures of the cards Hayes has received, the personal texts, Facebook messages posts, tags, and re-posts, retweets, phone calls, updates on shirt sales from our sister Elizabeth, faculty e-mails, and shout-outs we've been getting from ALL OVER.

I need better words.  I need better words to be able to say "Thank you... thank you, so much."  Those words seem feeble.

They seem feeble when I want to say, "You've transformed my recent "Please, please, please" prayers into "THANK YOU, Thank you!" prayers."

They seem feeble when I am bombarded (bombarded in the best way - like an over-abundance of cupcakes... or a battering of butterflies) on all fronts - Facebook, email, Instagram, Snapchat, text messaging, voicemail, real mail - by encouragement and assistance for Hayes.

Our family, friends, colleagues, employers, church family, friends of family, family of friends, friends of friends, (etc,) and STRANGERS we've never met have come to our aid by praying and showing support for Hayes.

I am so thankful and brought to a new mindfulness of the power of helping - and the many, many ways we're blessed in the current time to be able to help.

Y'all.  I am so guilty of not reaching out all the times when I have the power and ability to do so.  I think it takes a great courage to help someone.  It takes courage to say, "I love you and I'm thinking about you.  Whatever you need, I'm here."  THANK YOU for the courage you've shown in reaching out to us, for thinking and praying for us.

I am so thankful for social media.  What a wonderful instrument it can be in the arena of giving!  What an awareness it can raise for a family's needs!  What a way someone can feel able to help, when he or she may be too far to away make a meal, pick up a kid from daycare, or visit someone at their home.  I know this because I've watched social media help others, and now it's helping my family.

So, someone get on it.  Invent some new jargon that will echo the language, the hope and relief and happiness of my heart when I think of you all.  Then say that to yourselves, from us.

Pre-balded Hayes and semi-naked Knox.

And the Bear himself?  He's been in pretty good spirits since leaving the hospital.  We've ALMOST got all the glue used for the sensors off his head despite daily baths and various product attempts (no, I'm not joking - it is incredibly stuck and the amount of scrubbing it would take would cause a sore on his scalp, and I'm still not sure he's forgiven me from the haircut trauma I caused him last week).

His seizures seemed to stop while the ONFI was in his system, but beginning on Friday, he started having seizures again.  Today he probably had the most seizures I've ever witnessed him having.  Please keep him in your prayers.  We are going back to Cook's on Friday for a 30 min EEG, but we will have to wait to reconvene with our neurologist (also at Cook's) until next Wednesday, because they couldn't get those two appointments together on such a short notice.

AND YES, Knox is wearing Pull-Ups.  I really doooooooon't want to talk about it. (Potty training is hard. While you're on bended knee re: Hayes, would you mind sending up a quick one for K on this front?  95% kidding here,  That's 5% serious.)

We love and appreciate you all.  Good night.

Hayes' Spasms

The purpose of my Paints and Pistols blog (which probably needs to be renamed) is to inform interested parties about my family: keeping friends and family updated on our goings-on, informing curious parents and family members about various medical terms in the plainest of speech, and hopefully making readers laugh 6% of the time.

I started an informational series on Optic Nerve Hypoplasia, which is a brain condition affecting the eyesight (among other things), and my younger son Hayes has it.  But I've neglected to post since the very beginning of the summer, and I have realized over the past months that focusing solely on ONH on the blog is misleading to (most) people who don't know Hayes and what's going on.

Hayes is dealing with quite a bit more than ONH.  At the very end of summer / beginning of the school year, Hayes had his second MRI, which showed 'white matter loss' in his brain.  To put it so simply that it may be mostly incorrect, the 'grey matter' in your brain is where information is stored, and the 'white matter' is where information is transmitted, or carried and connected, throughout the brain so you can use it.  Hayes' 'white matter' did not show up in the amount that is normal for an almost-two-year-old brain.  We don't yet know if this is because these parts of his brain are completely without function, or because of something called 'delayed myelination', which essentially just means that his brain hasn't made the connections yet that would make that part of his MRI picture show up the way it should.  For this reason, he'll have another MRI in a year, to see if his brain continues to develop or stagnates.

We know Hayes is globally developmentally delayed, meaning that he reaches his 'milestones' across all categories (mobility, social, cognitive, etc.) more slowly than most other children.  Which would obviously explain why certain connections are not showing up on an MRI picture.  What we don't know is WHY (he has no official diagnosis that explains his disabilities and for this reason we are in the sloooooow process of genetic testing, which has not given us any knowledge thus far except that we cannot depend on our local labs to get blood work to the places the blood work needs to go) or WHAT WILL HAPPEN NEXT.  (But who really does, anyway,..)

About a week ago, we began to notice Hayes having some spasms, and they seem to have increased in frequency since.  These instantaneous spasms last for a mere second, and usually involve Hayes falling forwards or to the side, dropping his head and/or hunching his shoulders/raising or extending his arms.  He seems confused afterwards.  I called our neurologist (brain specialist) the first day I noticed him doing this more than once (he may have done it in isolation the previous week/weeks, but I'd assumed he'd startled himself), and we were able to get in for an EEG on Tuesday (yesterday).  An electroencephalographic (EEG) reading notes the electric impulses the brain makes during different activities.  We hoped to catch some of Hayes' brain waves during spasmic activity, but he did not have an outright spasm during the 30-45 minutes of the EEG, most of which recorded his brain during sleep.  (More aptly named EEN: extremely expensive nap.  <<< This is that 6% I was talking about.)

Though we're still waiting on the official EEG results, I was able to video Hayes having one of his spasms last night and emailed it to our neurologist this morning.  Based on the video, our neuro ordered a 24 hour surveillance study of Hayes, to better determine these 'concerning' episodes (his words), despite anything our EEG results show/do not show when we get them over the next few days.  This appointment is yet to be scheduled (I should hear tomorrow, or so they tell me as I keep calling).

There are a few conditions/types of seizures we're discussing that I'll expand on in more detail once I know for sure what I should put out for every one to read.  We're concerned, obviously because some seizures can slow and regress development, rendering the victim with brain damage.  In Hayes' case, we are especially wary of this and ready to begin measures to control seizures (if they are, in fact, seizures) as his brain is already working around other developmental issues/damage.

We (Koby, Knox, Hayes and I) covet your prayers during this time of testing and waiting - prayers for answers, peace, and effective treatment for Hayes.  Thank you for your encouragement, support, and concern for our sweet son.

What IS Optic Nerve Hypoplasia? - Everything I Know Part 2 -

Okay, we're back.  I hope from my last post you were able to come away with a general overview of what optic nerve hypoplasia is.  If you didn't catch that post, or if you've stumbled upon my blog because your child was just diagnosed with optic nerve hypoplasia, I'd recommend beginning here for information, or here for the beginning of our own story with ONH : )

In January I attended a conference put on by the Texas School for the Blind and Visually Impaired (TBSVI) specifically for parents of children with ONH.  At this particular meeting, we were able to hear information from an ophthalmologist who had become something of a specialist regarding ONH.  I loved what she said at the very beginning - ONH is a brain problem.  It's not an eye problem.  That's why vision isn't (always) the only thing affected by ONH.

The optic nerves exist in a part of the brain called the 'midline'.  Because kids with ONH obviously have malformations in this part of the brain, one of the first things that happens (or SHOULD, MUST, MAKE IT HAPPEN) after an ONH diagnosis is a referral to an endocrinologist and an order for an MRI of the brain.

Below are two pictures of different views of the brain and its regions/parts/whatever you call brain stuff.

The first is a side view - the midbrain that is usually checked for additional abnormalities after the diagnosis of ONH includes the corpus callosum, the hypothalamus, and the pituitary gland.  (Image courtesy of a Google search, which yielded this picture in a foreign language.  Good luck with the link.)

This picture (below) shows a view of the brain from above.  You can see how the optic nerves cross just in front of the pituitary gland in the middle of the brain.  (Image courtesy of some lecture notes from a community college.  Knock yourself out.)

Okay, so what does this all mean?  Why are these parts of the brain important?

First and foremost, let's discuss the pituitary gland, aka the reason you'll be referred to an endocrinologist (doctor specializing in glands/hormones).  The pituitary gland is responsible for secreting the hormones that keep the body functioning normally.  Because hormone abnormalities can have drastic consequences (loss of consciousness, mental retardation, even death), it is imperative that a child with an ONH diagnosis be monitored for pituitary function.  And because the hormone levels can fluctuate at any time or stage in life, people with ONH should continue to be monitored with regularity even if everything is functioning normally.  Sources vary, but it is reported that 75-80% of people with ONH have some degree of pituitary dysfunction.

The hormones secreted from the pituitary gland are responsible for the following things:

• growth, temperature regulation, sex organs, thyroid gland function, metabolism, water balance/regulation in the body (related to kidney function as well), blood pressure, and pain relief 

Your endocrinologist will regularly monitor your child's hormone levels by ordering blood tests and, at each appointment, check to make sure she is growing normally.  This specialist will also review the results of your MRI.

Hayes' hormone tests have come back in the normal range after each screen.  He has always 'thrived', which is to say, grown and eaten normally.  He is tested every six months and will be until he is 2 (or 3, can't remember).  At that point, if he is still maintaining 'regularity' as far as his hormone levels, he will only be checked once a year.  Of course, if there are any changes in behavior or activity, we will contact his endocrinologist to run tests to make sure something hasn't gone awry, because hormone problems can manifest themselves at any time.  (For more information about the pituitary gland, talk to your endocrinologist and click here.)  And, for the record, I love our endocrinologist.  He is hilarious and looks like Dennis Hoffman, and he thinks I look like Brittany Murphy.  I was not as thrilled and am still confused about that.)

This is Hayes and me at his endocrinology appointment on my birthday in 2013.  As you can see, he's chunky thriving, and I look nothing like Ms. Murphy.  No offense to her, and may she rest in peace.)

Let's talk about the MRI.  An MRI is an image done by magnetic resonance imaging.  I have basically no idea how this works.  Okay, I have some idea, but I feel more comfortable explaining why a person with ONH is ordered an MRI than how exactly the MRI is done.  (For much, much more re: the MRI, please talk to your endocrinologist/neurologist/ophthalmologist and click here.)  The MRI for ONH will be focused on the brain, and will be specifically taken for review of the midline.  

We had a few issues as we went to have the MRI done in the spring of 2013.  Hayes was getting over RSV and had recurring colds, which led to us postponing the scan once before we finally got to do it.  I was a nervous wreck.  Because Hayes was only six months old when he had his MRI done, he had to be put under anesthesia in order to ensure his absolute stillness.  He also had to fast (which, at that time, meant no bottles) for a period of time before the MRI was done.  The whole thing took a whole morning - arriving at the hospital at its earliest opening (some tortuous time like 6 or 7 am, and my mom and I drove in from Jacksboro for the appointment), and after he went in around 8 or 9 I didn't see him until after lunch.  I tweeted a lot about it.  Here's a link to a tweet/picture of Hayes in his hospital gown, 10 hours since last bottle and pre-anesthesia.  You can find me on Twitter by my handle @christieandrews .)

What else is the MRI looking at?  We already talked about the pituitary gland.  So next, the corpus callosum.  The corpus callosum is a group of fibers that connect the left and right sides of the brain.  These fibers allow the sides to 'talk' to each other.  Here's something completely mind-baffling about the corpus callosum: it can be completely missing and you might never know.  Some people with absent corpus callosums go on to college: some with partial loss of the same section of the brain have significant cognitive and motor impairments.  When the corpus callosum is thin, malformed, partially or completely missing, it is called agenesis of the corpus callosum.  (For more information about the corpus callosum, talk to your neurologist and visit this site.  A wonderful organization exists called the National Organization for Disorders of the Corpus Callosum, but unfortunately its website is temporarily down.)

Attached to the corpus callosum is the septum pellucidum, which is a thin membrane that runs to another part of the brain.  A condition often associated with ONH, called SOD (Septo-optic Dysplasia) involves diminished optic nerves, pituitary gland dysfunction (hormone problems), and a missing septum pellucidum.  For more information about SOD, talk to your ophthalmologist, endocrinologist, and/or neurologist and click here. 

I took the call regarding Hayes' MRI results on April 24, 2013.  As I'm writing this, that's only 11 days less than a year ago.  Hayes HAS a corpus callosum, but because he was six months old at the time of his MRI, his brain was six-months-old-tiny, as was his corpus callosum.  It's hard to tell, at that size, if a corpus callosum is malformed.  Hayes has not been diagnosed with SOD, as he doesn't seem to be 'missing' any brain parts and he has yet to have any endocrine issues.  Since his MRI, I've been wondering if his corpus callosum could be linked to some of the motor problems/delays he has, which you'll learn about later.  If your child has been diagnosed with SOD (or ONH), I would highly, highly recommend joining the Facebook group called 'Parents of Children with Optic Nerve Hypoplasia (ONH) / and Septo-Optic Dysplasia (SOD)'.)

Alright.  So.  We know that an ophthalmologist will refer a patient with ONH to an endocrinologist, and hopefully order an MRI (and it's not just to spend money; we understand why.).  Who do we discuss the MRI results with (aside from the endocrinologist... and the ophthalmologist.... and your family doctor/general practitioner/pediatrician...)?  We go to the neurologist.  A neurologist is doctor specializing in disorders of the nervous system, aka the brain.  And, obviously, ONH is a disorder of the brain.  The neurologist will (should) review the MRI results with you in detail.  She should show parents the MRI itself, discuss the findings in each targeted area, and explain what those findings mean.  A neurologist will be the doctor contacted in case of seizure activity, since that can be and is associated with ONH.  If the MRI results are inconclusive for any reason, the neurologist will refer you to other specialists.  (We'll discuss that later.)

I like our neurologist as a human and as a professional.  I really just haven't learned anything from our appointments with him.  He showed us Hayes' MRI results (pretty cool) and is willing to answer my ridiculous please-predict-the-future questions, but because Hayes has some other things going on that aren't explained by his MRI, he's referred us to other doctors.  We check in with our neurologist every six months to discuss any changes in behavior, monitor for signs of seizure activity, and keep track of his development.  The neurologist was the one who FINALLY said 'hypotonia' out loud for me, and is the one who is most concerned about his global developmental delays (which means delays in cognitive, speech, and gross/fine motor skills).

And from this point?  Rinse, lather, repeat.  And adjust as your preferred brand of shampoo is renamed, discontinued, or new and improved.  Because this is the medical community.

So, a recapitulation of post-ONH diagnosis and the 'D-team' assembly. (D is for Doctor, not performance.*  Hopefully.)

ONH diagnois (most likely via the ophthalmologist) then

• Endocrinologist
• hormone tests
• Neurologist
• MRI

Everything I Know Series

What IS Optic Nerve Hypoplasia - Part 1

What IS Optic Nerve Hypoplasia - Part 2 (you are here)

• LEGEND
• Medical information / New Terms
• Personal Andrews information
• Medical specialists
• Therapy / Government Programs
• Really important information
• and links I think you should visit always look like this

If all this helps just one person, I will feel incredibly accomplished.  It's a lot of typing if it doesn't.  :-)  I'm going to condition you to expect a really cute Hayes picture at the end of each installment, so here:

What?  Stop it, I know.  Hayes and Koby catching a snooze after a long weekend.  Hayes is smiling in his sleep.

* Remember, you can fire anybody who isn't up to snuff.  You can always question, challenge, and ask for clarification.  Above all, if you aren't satisfied, you can find another doctor (therapist/case manager/etc.)

What IS Optic Nerve Hypoplasia? - Everything I Know Part 1 -

It's come to my attention that everyone who reads the blog knows something's up with Hayes.  A little over half know that he has a neurological condition (a congenital birth defect) called optic nerve hypoplasia (ONH).  Less know, however, what that really means and entails.  And a few know there's some other stuff going on too; things that no one can really describe well or explain.

I think that sometimes even really, really close loved ones can feel uncomfortable when asking parents whose children have atypical development to explain, in detail, what's going on and why.  And so, they don't*.

I also know that I have read ... a lot... of information (printed and online) about optic nerve hypoplasia; I still Google it sometimes to see if anything new comes up.  I know how it feels to be a frightened mother looking to educate myself on something I'd never heard of until it affected my baby.

SO I want to do an exhaustive post (series) that covers everything that we know about ONH because of Hayes.  Please keep in mind that I am neither a doctor nor a pediatric therapist, and I am describing our family's experiences and decisions regarding this condition.  I'll post medical information, signs, and links I consider to be useful resources.

Optic nerve hypoplasia is a congenital (before birth) neurological (brain) condition resulting in varying degrees of vision loss and can be associated with other disorders and conditions.  Hypoplasia means 'under-developed', and so the name of the condition itself basically describes the fact that the optic nerves were malformed as the baby's brain developed during pregnancy.  The optic nerves are the nerves that connect the eyes to the brain.  There are no known causes of ONH, but studies have linked the usage of drugs, young maternal age, primaparity (first pregnancy), and low maternal weight gain to the condition.  It is not known to be a hereditary condition and is not currently linked specifically to any chromosomal malformations.

When a person has optic nerve hypoplasia, it can affect one (unilateral) or both (bilateral) eyes, and the development can be moderately to severely under-developed.  For example, one person with ONH may have optic nerves that are only slightly smaller than the typically developed person's, while another may have optic nerves that are almost completely diminished.  Obviously, this means that even with the same medical condition, vision loss can range from near to normal acuity (what we call "20/20") to no light perception, meaning that the brain does not perceive the image of light through the eyes.

Every ophthalmology appointment/MRI result has indicated to us that Hayes's optic nerves, while smaller than average, are not markedly underdeveloped.  Unfortunately, as he is still unable to talk, we are not sure of just how much/well he is able to see.

It is important to remember that even with a bilateral ONH diagnosis that the brain will adapt to the under-developed optic nerves.  And so while the optic nerves will not themselves repair or grow stronger, the brain can learn to read their signals better over time, often until the ages of three to five.

This is also why it is important to monitor the health and function of the eyes.  ONH is sometimes associated with strabismus (eye crossing) and nystagmus (eye shaking).  In the case of strabismus, if the eyes are crossed for a long period of time, the brain will eventually 'shut off' the signals it receives from one of the eyes to cancel the 'double vision' effect.  (This is called amblyopia.  Read more about it here.)  Treatment can be consulted with your ophthalmologist and generally consists of patching either eye or undergoing strabismus corrective surgery. (For more information on strabismus, talk to your child's ophthalmologist and click here.)

It was because of strabismus that we were initially referred to a pediatric ophthalmologist by our family physician after Hayes's four month check up, and in turn it was the ophthalmologist who first diagnosed Hayes with optic nerve hypoplasia.  Hayes had the strabismus corrective surgery in July.  His eyes have healed nicely and do not cross as frequently.  Because both of his eyes have always seemed to cross equally, rather than one or the other, our doctor has never recommended patching, and for this reason I am less comfortable giving extensive information on patching.  (For more information on patching as an aid for eye alignment and acuity, talk to your child's ophthalmologist and click here.)

Nystagmus often occurs in people with ONH, and it means that the eyes move quickly, or 'bounce' in different motions, like up and down or side to side.  Interestingly, people with ONH can find their 'null point, which is an angle at which they can look at things without having their eyes move constantly.  (For more information on nystagmus, talk to your child's ophthalmologist and click here.)

We have been on the watch to see if Hayes seems to prefer looking at objects or people from certain angles, which may indicate that he has found a 'null point'.  There is actually a surgical procedure that can 'move' a person's null point.  For example, it would be much more convenient if the null point could be found when the eyes were looking straight forward, instead of looking at things obliquely from a wide angle.  So far, we have not noticed Hayes preferring any such positioning.  

We have noticed him 'nodding' quite a bit, and at this last appointment, the ophthalmologist referenced a condition called spasmus nutans that is associated with nystagmus, although not necessarily with ONH.  Spasmus nutans is characterized by nystagmus and head movements, such as nodding.  It generally manifests during infancy and early childhood, but generally resolves itself by ages 3-4.  Because the signs can also be misread as spasmus nutans when they can actually be signs of problems such as brain tumors, doctors will often order MRI scans to be done.  Since Hayes has already had this done with no concerns coming up, our doctor felt comfortable ruling that out.  (For more information about spasmus nutans, talk to your child's ophthalmologist and click here.)


Because no one likes to scroll forever, this wraps up the first part of what I hope will be an informative, frequently updated series about optic nerve hypoplasia and hypotonia (in broad scope) and our journey with Hayes (in specific detail).  Stay tuned for: associated conditions, posts on early childhood intervention and how to get it, hypotonia, global developmental delay, genetics, and most likely more.

Everything I Know Series

What IS Optic Nerve Hypoplasia - Part 1 (you are here)

What IS Optic Nerve Hypoplasia - Part 2 

• LEGEND
• Medical information / New Terms
• Personal Andrews information
• Medical specialists
• Therapy / Government Programs
• Really important information
• and links I think you should visit always look like this

But here's your reward for making it this far.  Hayes says, "I bet you thought she'd never stop talking!"

*It's okay to ask.  : )

Prophecies, Progress, and One Identity-Stealing Transformer

I'd love to take you back to this moment, as I wrote this when Hayes was just ten days old:

A second child is a heart-breaking miracle, a treasure mindful of time.  He is precious because his parents have learned the meaning of cherish.

Okay, so maybe the postpartum hormones were a-swirlin' that day; I know it's a tad on the dramatic side. But I've been revisiting that thought over and over again.  It's almost like my own personal memory verse that became something of a self-fulfilling prophecy for Hayes and me.

I would lie if I told you it isn't hard when Koby and I attend Hayes's pediatric check-ups; we sit there and say "No" for about five minutes straight as the nurse keeps asking all the questions she's bound to ask about his development.  "Is he walking?" "Is he crawling?" "Is he pulling up on furniture?" "Is he babbling?" "Does he play hide and seek?" "Will he look for missing objects?" .... Please, please stop, we think.

I would lie if I told you it isn't hard when we see kids Hayes' age running and laughing and talking.  Because it is.  It's not a resentful, pitiful feeling.  But it's a hard one.

BUT.  Our little treasure mindful of time keeps reminding us that HE progresses on his own time, and it transforms the ordinarily mundane into the explosively joyful.

Yesterday, Hayes grabbed my face and looked into my eyes.  He just ran his slobbery, pudgy hand all over my face, looking at me and studying me in a completely new way.  

For any other mother, if her 16 month old did that, it would probably be answered with - Look little man, here are your 10,000 toys.  Could you please pinch and play with them instead of Mommy's cheeks and hair?  I know and say this because that is exactly what I would have felt when Knox was ALWAYS UP IN MY GRILL about a year or so ago.

But when Hayes did it - purposefully reached for and held my face - it made my heart race and flutter.  CHERISHED moment.

Here's a video of Hayes in his Little Room.  The Little Room is an Active Learning therapy tool we've been able to use thanks to our wonderful VI teacher.  He's laying on a Resonance Board; the Little Room is the torture-chamber apparatus that appears to be encasing him.  This was his first time in the Little Room, and not coincidentally, this is the most he'd ever interacted visually-physically with ANYTHING.  (I've since moved some of the objects around - I didn't like how close those spiky dish scrubbers were to his face/eyes, and I let some of the higher-hanging objects down a bit.  It is recommended to establish places for the objects -and then not move them- for memory encouragement.  And obviously, children should be monitored the entire time while they're in the LR.  Don't mind the other, non-monitored child destroying the living room in the background.)  For more information on Little Rooms, Resonance Boards, and Active Learning, check out these links:

This Link
or This Pinterest Board
or This Link


Heartfelt outpouring over - I have to go attend to Knox, who is refusing to believe me that the toy he is holding is. in. fact. a Transformer, and not a Yellow Batman.  

** Update: I later apologized and said, "Okay, you're right.  It is Batman.  How silly of me."  To which Knox replied, "Good job, Mommy."  These guys teach me lessons all the time.**

Hope Ambassador

A few months ago I posted an original design of mine that was given as a gift to a couple getting married in South Dakota.  I don't know them, but my in-laws do; the bride is from the States, and the groom is from Haiti.  They met while the bride was on a medical mission trip to Haiti.  To me, the quote was lovely and fitting for their marriage.  Here it is if you don't feel like clicking over (and also, I misquoted the phrase in the artwork and it is k i l l i n g me):

“Differences of habit and language are nothing at all if our aims are identical and our hearts are open.”

― J.K. Rowling, Harry Potter and the Goblet of Fire

Maybe you were blessed with a spouse who is a lot like you.  Maybe you're surrounded by friends and family who are like your little clones, replicating your personality and beliefs.

Koby and I were not.  Koby and I were blessed with spouses who challenge and counter nearly every point of our personalities.  We are not alike.  Even though we come from very similar upbringings, even though we were raised in the same church, even though we have the same eye, hair, and skin color,

sometimes it feels as if WE may as well speak different languages.  (Married people, can ya feel me?)

Here are some things we've had different opinions about lately or ever: the Dallas Cowboys, the appropriate amount of red meat one should consume, the extent to which the Founding Fathers have been deified, best teaching practice, the environment, Miley Cyrus, the appropriate way to voice political beliefs, where to put the second Direct Tv receiver, bedtime rituals in general, how often Knox should brush his teeth, the extent to which Knox should be clothed when he goes to bed, where to put the soap in the shower, appropriate topics in public . . .

Most are trivial.  Some are not.  Sometimes our different natures work incredibly in our advantage; when Koby is stressed, I remain calm, and vice versa.  Sometimes our disagreements leave us laughing, sometimes they jar us off course and we spend a few angry minutes cooling off in separate rooms before we can realign our marital compass.

But 'we' work.  (And please know, it takes work, as I think any marriage should.)  And I think Mrs. Rowling was on to something when she noted that differences matter not when you're supportively working together towards the same goal.

Today I took Hayes to his neurology check up.  The doctor was very pleased with his strength and progress, but he was concerned about some of the cognitive (mental) delays that Hayes is still showing.  For example, the fact that he isn't supporting himself with his arms while sitting or catching himself when he topples over isn't solely related to his vision impairment.  (Completely blind babies should be able to sit unassisted by 12 months.)

It's worrisome to think about Hayes having some degree of cognitive impairment (mental retardation), but it's not something that was out of my scope of considered possibilities.  It's not something fun, to have the doctor echo what rattles around in your brain in your weaker, doubting moments.

But it's irrelevant to worry because I left the appointment with yet another "We'll just have to wait and see," because that's exactly what we'll have to do.  The realm of possibilities is thankfully and frustratingly endless when it comes to Hayes and his condition - but couldn't the same be said for every child?

And I've realized that God has given me an incredible weapon and force to combat worry and anxiety about Hayes AND to empower our son to achieve at the best of his ability - and that is that I've been blessed with a different habit-ed, different language-speaking, open-hearted, aim-identical husband in Koby.

God can work through our marriage to give Hayes (and Knox!) the BEST possible life, whatever that may entail.

Hayes's AWESOME first birthday was this past Saturday (if you haven't read Koby's birthday post for Hayes yet, check it out), and at the party, I was struck (for the jillionth time) by something else.  God blessed Koby, Knox, Hayes and me with different habit-ed, different language-speaking, open-hearted, aim-identical hope ambassadors in the form of family and friends.

How have I been so incredibly blessed to have so many people who make it a point to strive for the best lives for my own children?

Finally, I want to end with a wonderful verse that gives me comfort and reminds me that not only do we have hope for eternity, but that we've also have hope for the present day, and it has the power to permeate and radiate in our lives now.

But in your hearts revere Christ as Lord. Always be prepared to give an answer to everyone who asks you to give the reason for the hope that you have. But do this with gentleness and respect . . .

- 1 Peter 3:15

First Amendment Writes

As a sixth grade English teacher,  I spend a considerable amount of time introducing and stressing the importance and power of choosing the perfect, tailored word or words to communicate one's ideas or feelings.  The power of words is astounding - it amazes me, encourages me, cuts me to the quick, inspires me, and comforts me daily.

And so, in that same spirit of challenge, I would like to amend and redress something I said in a post a few months (or what feels like a lifetime) earlier.

When Koby and I first found out that our son Hayes has a neurological condition that affects his eyesight (called Optic Nerve Hypoplasia), I wrote this regarding my anxious feelings prior to the diagnosis:

 I was afraid there was something we'd be discovering about Hayes from the moment I held him for the first time.

Let's talk about inference.  From the tone of that statement, you, the reader, would probably infer that I was anticipating 'discovering' negative things.  Learning negative things.  Experiencing negative things.

And you'd be right.

Despite my optimism there existed underlying fear as, together, our family faced the unknown.  I don't think the subconscious negativity was exactly harmful: in fact, I think it sprang from pure ignorance.  As we genuinely didn't know what to expect, I focused on the upsetting discoveries we'd be likely to encounter.

Let me tell you about Hayes and discoveries.

Hayes began therapy through Early Childhood Intervention in May.  Since then, he's had weekly sessions from a wonderful occupational therapist, monthly visits from a speech therapist, bi-weekly check-ups with a vision specialist (through the Clay-Jack Co-op), monthly visits with an ECI case manager, and spent occasional time with a coordinator from Division for Blind Services, who also secured an iPad for him and keeps us abreast of new technology, toys, books, resources, and get-togethers for families like ours.

In May, I sat with the ECI ladies and our vision therapist and we set some motor skills goals for Hayes, who also has what's called hypotonia, meaning low muscle tone.  Hayes' first goal (set when he was six months old in May) was to raise his head when lying on his stomach and change position or turn his head to face people or objects at least five times daily.

As we sat in that room and put those words to paper, I remember thinking Will this ever really happen?  I looked at my son, and I hate to admit to you that I doubted him.  Our reality at that time was that our six month old son wasn't rolling over and still didn't visually track objects well, or indeed seem interested in things much at all because of his crossed eyes (strabismus).  To me, that goal may as well have been to build Hayes a rocket ship using paper clips and bubble gum and fly him to Venus by his first birthday.  It seemed equally hard that day.  I couldn't get past our reality.

Hayes had the strabismus corrective surgery in July and it went 'perfectly' according to plan, according to the surgeon, who is also our ophthalmologist.  Around that time (and perhaps because of the surgery and its effects) Hayes was catapulted into a time of advancement.  He began rolling over, he began tracking.  It was awesome.

He plateaued for what felt like eons, but was actually a few weeks.  Teeth sprang from his gums in the nick of time to reassure me that nothing too alarming was happening with his hormones.  His genetics test results came back and found only one very small loss of material on one something of a chromosome, meaning that he's got no known 'syndrome'.  (Obviously we haven't been to that appointment yet because that's as specific as I can get and I'm not even exactly sure what I've just said.)

And then, y'all, the best thing happened.  Hayes met his goal.  He was rolling over, holding his head up steadily, and changing positions to look at things and listen.  In early September, we set a new goal.

In May, I looked at my son and thought Are we crazy to be this hopeful? and within three months, we were beginning to plan for new goals.

And so, my amendment is this: while some discoveries have tested our foundation, some have solidified and strengthened it.  I regret that I felt that way about the discoveries I'd make with Hayes, but I know so much more now.  I am learning and discovering a new kind of hope and perseverance, and my eleven month old son is my teacher.

- Attention-Grabbing Title-

In faithful Andrews family fashion, the past few weeks have been fast, blurry, and life-changing.

Most pressingly and importantly, at Hayes' last appointment with his ophthalmologist we received the good news that because his strabismus (eye-crossing) hasn't changed he is able to have the surgery needed to correct this problem.  He'll go in for the 30 minute outpatient procedure on Wednesday the 10 and we'll be able to take him home that same day barring any uncommon complications.  Prayers very much appreciated.  We're really optimistic about what this surgery can do for his eyesight and hopefully for his muscle tone, gross and fine motor milestones.  I'm trying not to look at it as this miraculous cure-all that will suddenly make him like any other eight month old baby (except, obviously, soooooo much cuter)... but still.  We're really excited.

Hayes also had his first evaluation for the DARS Division for Blind Services today and we are really overwhelmed, humbled and grateful to have found out about so many programs that are able to assist our family as we work to help Hayes.  (Before you start freaking out "WHAT?! Hayes is blind??  you should know that as of right now, Hayes is declared legally blind by his ophthalmologist.  Also, justy because someone is 'legally blind', it doesn't mean they can't see.  Obviously, since we have no way of deciphering his baby-speak right now, we have little way of knowing how much he can actually see.  DARS services kids with low and no vision.  Hayes qualifies now -or at least, we hope he does- both because of his condition and because of what the doctor wrote in his paperwork.)    After speaking with our case manager today, Koby and I are really glad to have this resource - they put on camps that connect families of children with conditions like Hayes' and hold seminars designed to encourage and educate parents on techniques, exercises, technology, and other resources available to help kids with low or no vision.  They work with families to get kids technology, toys, etc. that help them utilize the vision they have.  It's amazing to me how MUCH help is out there, but it saddens me that it's so hard to find out about.  It's almost like you have to stumble upon it.  Or maybe *someone* should write a manual...

Hayes also had an EXCELLENT session with his occupational therapist today (through Early Childhood Intervention - I'm going to go ahead and link all these services in case any one is interested) and she's really looking forward to his surgery and how it may affect his motor development.

Knox is doing really well too, he's talking like a Wall Street account executive (slight exaggeration, and I don't even know if that's a real job) but he is suffering from a little case of tonsillitis.  He's coming up fast on two years old.  I've officially extending the age of 'baby' until three.  So, still my baby.  Who speaks in complete sentences and requests money and keys when he gets in his toy car.

We're in our new house now and are also pleased to announce ....

...oh, just wait for it...











I'm employed!  (You thought for one terrifying second that we were announcing Baby #3, weren't you? Cue hysterical, slightly maniacal laughter.  Cue me punching you in the face.)

That's right.  I passed my English Language Arts and Reading test that qualifies me to teach those subjects to fourth to eighth graders, then interviewed for a sixth grade position at the school where Koby works, and got it.  Hooray for employment!  Hooray for working with my husband!  Hooray for a nice, new house (yet to be unpacked).  And hooray for three years of marriage!  (Our three year anniversary is the same day Hayes goes in for surgery... can you imagine me knowing that as I was saying my vows just three years ago???)

In the past three years, between Koby and I, we have:

lived in four houses
worked at seven very different jobs
had two kids
gone to three different churches
been in four weddings
been to 5,341 doctor appointments (just an estimate)
cried a lot (some of us more than others)
prayed a lot
learned a lot
had a lot of fun

I am ready to turn the page and start a new chapter (for want of a better metaphor).  While I'm thankful for this past year, it has been the most challenging, albeit strengthening, of my life.  We're glad our family moved to new house this summer - even though we weren't looking for it, it even physically feels like a fresh, clean start.  I don't know about Koby, but I feel refreshed and energized, and ready to tackle a new year.  (And I'm sure that it has nothing to do with the fact that Koby and I spent 24 hours away from the kids...)  Our life moves pretty fast and I've got a feeling it's only the beginning of a great story.

Move the Third

I thought I was pretty indoctrinated into the 'country' lifestyle.  I mean, check out the street we live on.

 

Dirt road?  Check.  Animals?  Mmm hmmm.   (Did they live?  Nope.  RIP ducks.)  Nice neighbors?  Yeah.  Roosters waking me up in the morning and donkeys braying in the distance and horses in the next yard?  You got it, partner.

I have loved living in the 'country'.  Who wants to worry about neighbors nagging them if their dogs get out, maybe kill someone's favorite cat, yadda yadda yadda?  I don't want to be judged if I leave the Christmas lights on my back porch year round, do you?  Who wants to live in a world where a man isn't allowed to stand in his front yard with his jeans and suspenders on, and nothing else?  I sure don't. Despite my newly-acquired bumpkin nature, my husband has assured me that I am still 'city', whatever that means. 

And also, whatever. 

I totally disagreed on this point until yesterday as I was scoping out the house we'll be moving into at the end of this month.

Yesterday we were all walking the property, kicking the tires, and Knox was pretty overstimulated with all the free space in the house and the insane echo his voice made when he screamed his very loudest in the empty bedrooms while we discussed money-this and money-that with our new landlords.  I decided to punt him out the back door take him for a walk in the yard and together we investigated the well in the backyard.

Well water was one of the 'selling points' of us deciding to move at all.  We LOVE the house we live in now, including the absolute remote location and our laissez-faire-until-we-need-them-landlords BUT having a well means saving on the green stuff, and big time if you live in our county.  Living in town means less commute IF we're both working in Jacksboro.  (I've got an interview Thursday, say a prayer.)  And living in Jacksboro means we're THAT much closer to the hospital network with which we're now affiliated because of Hayes' condition.  And while the house is 'in' town, it's still on a dirt road and, as a special bonus, it's even MORE private than our house now without being fifteen minutes away from work.  Goodbye curtains, hello lovely, leafy privacy.

But anyway, the well.  We were looking at it.  The well is in a little shed and I decided to have a peep.

I dunno if you've ever seen a 'well' that services residential needs.  But I know I was expecting to see this inside the little white shed I was so avidly investigating.

Plus or minus one dead girl crawling out of the top.  I admit, I was really curious as to how we were going to get the water without using a rope and bucket, but I allowed technological advances to cover that tricky spot.  I'm only sad I'll have nowhere to throw pennies when feeling particularly wishful.

If you still don't know why this is funny, I won't spoil the surprise.  Come to my new house and I'll show you my water well.  But in any case, I remain a City Slicker.  Sorry, y'all.

In other news, HAYES IS SCHEDULED FOR SURGERY! Or he will be really soon (pending date checking and availability, but we're looking at July 10 or 17th).

We visited our ophthalmologist for a check up today, and because Hayes' strabismus (eye-crossing) is stable, he can have the surgery to correct it!  This is AWESOME and urgent for more than cosmetic reasons alone.  Hayes' brain is still adapting to the vision that he has because of his optic nerve hypoplasia, and in cases where strabismus is involved, the brain can actually train itself to turn off the signals it receives from one eye to counteract the double vision effect.  So plainly speaking, the earlier he has this corrective surgery, the better it is for his brain and his vision.  Our vision therapist attended the appointment with us and was so excited to see Hayes watching objects and holding his head upright.  She was also really encouraged by the doctor's opinions about Hayes' eyesight.  Add that to a SPECTACULAR physical therapy session today, during which I got to tell our OT that Hayes can now roll over and prop himself up on his arms while on his tummy, and you've got a pretty amazing day in my world.  Thank you, Jesus.  (I may be a little bit excited.)

Please, look at my awesome kids.

 

 

Ready Set Chase

Hayes' initial meeting with his neurologist was yesterday.  Before I get into the details of the appointment, I'll just say that Koby and I have been thoroughly impressed and encouraged by the facilities and staff at Cook Children's.  It's REFRESHING to feel relaxed at the doctor's office, and I think it's special and to their high credit that we can have that experience while waiting to meet with someone about our son's possible brain problems.

And now, onto the visit.  Initial points earned by the neuro for having really unique, funky glasses.  He was very thorough and walked us through the entire MRI, showing us the optic nerves coming from each eye and crossing each other in the brain, the stalk-shaped pituitary gland, and the super-faint corpus callosum.

And the remarkable thing about the MRI is that it's essentially unremarkable.  The optic nerves look good, they cross where they're supposed to in the brain.  Nothing wrong there.  The pituitary gland looks fine.  The corpus callosum looks "a little differently shaped" than other corpus callosum, but evidently indicates nothing alarming. 

Good news: every thing looks in perfect order.

Still, reality tells us that we do know that something is misfiring.  Somewhere.

Things we learned: Optic nerve hypoplasia encompasses more than we thought it did.  Before our appointment, I thought ONH merely meant something was wrong with the long nerve bundles and/or the way they crossed in the brain.  It seems as if Hayes' problem lies in the nerve head - where the nerve bundles connect to the eye.  This is why the ophthalmologist could look into his dilated eyes and diagnose him ONH while the MRI looks pretty much normal.

At this point, we can't pinpoint the cause of his delayed development and low muscle tone.  Is it the poor vision?  Hard to tell.  Right now it seems that we can cross the possibility of septo optic dysplasia (often goes hand in hand with ONH) off the list.  Which is a good thing.  The doctor was pretty clear about his inability to predict the future, or indeed, to even tell us much about the present.  He was realistically and positively encouraging that our best actions now are to be there for Hayes at his current ability level: he will set his own curve for development, and we should act accordingly.

Sit in the office of a pediatric neurological doctor for a few minutes and you'll see all sorts of kids.  In my head, when I see the children in motorized wheelchairs, their MRIs are pictures telling clear stories: 'this is why your body is this way' markers.  Our doctor told us that's not always the case.  In fact, it's frustratingly common to HAVE NO IDEA why a child might be profoundly mentally retarded or experience global delays or have any sort of problem.  And vice versa.  For example, the corpus callosum can be completely absent in a person who is completely typical - grows fine, thinks fine, moves fine.  Every day I am more and more aware of how very much yet how very little we as a species know about ourselves.

The next steps for Hayes and us include two genetic tests: each will look at Hayes' chromosomes.  One will look at the set as a whole and one will focus on each pair in depth, and together they may lead us in the direction of a possible chromosomal abnormality that may explain why Hayes is the way he is.  Or, they may not.

The chase begins.

I've been wanting to write a post on body image for quite some time now.  (Maternity will do that to you.  Maybe being female alone is enough of a prerequisite.)  But my thoughts have gone so far beyond mere 'body image' that I don't even know how to begin my thoughts on THE BODY.  What a wondrous and terrifying composite of possibilities.

In the office I mused aloud, "After going through all this I wonder, 'How are any of us walking and talking and going around with nothing wrong?'"  The doctor stopped, looked at me and very sincerely said, "I wonder that

all. the. time."

'Health' is such a vague term.  If you asked me, I'd tell you that I consider Hayes to be healthier than Knox.  Knox has asthma, (undiagnosed) eczema, seasonal and possible other allergies, and a severe peanut allergy.  Hayes 'suffers' from nothing - he's as healthy as a horse.

Except of course for the fact that he has low muscle tone, developmental delays, and vision problems.  All of which he may grow out of.  Or he may not.

I'm just like most girls - ask me about my body and in seconds you'll hear about how I hate my teeth, and my nose, and how my proportions are all wrong.  My eyesight is awful, my body stopped growing at five feet, and my nonexistent eyelashes and eyebrows are a plaaaaaague upon my face. 

But motherhood began a change in me that I wouldn't have predicted - I came to accept and respect my body in a way I'd never experienced before.  I grew and nurtured two humans IN AND WITH my body.  I grew two babies and then fed those babies with my body.  What?!  While pregnant, I ran a 5k and felt bewilderment and wonder at the things my body could do.

And now since Hayes I've come to see that, bizarrely and utterly against the odds when you consider how much could go wildly wrong, most of us are  b o r n  p e r f e c t.  (To me, Hayes IS perfect, but... you know.)  My friend Sarah and I talk about how just because there are people starving in the world doesn't mean you don't get hungry... but Google how many chromosomal abnormalities there are and how devastating they can be, and you'll come to appreciate that if you can see this post, comprehend it, and could type a comment after doing so...

YOU'RE pretty close to perfect. 

And chances are, some person would do nearly anything

to be like YOU. 

And me.  Even with our extra ten-fifteen-twenty pounds and non-existent eye-lashes and bad skin and asthma and allergies and thinning hair.  Isn't that a weird thought?

And some parents will look at Hayes and be grateful for their blessings.  And some will look at Hayes and wish their children could at least have what he has.  And I don't think there's anything wrong with either of those situations - I don't think it's wrong to acknowledge and be grateful for our blessings, or in turn want the best for those we love.  I don't think it's done at the expense of anyone else.  And I've come to realize that the opposite of blessing doesn't necessarily mean 'curse' - and in the realization I've noticed a lot more blessings. 

Detour over.  Our visit wasn't negative, but it wasn't positive...  Was it?  I don't know.  I don't feel like it was anything except what we were before and what we are now.  Taking it one day at a time, not really knowing what's going on but looking at the sweet baby in front of us and doing what we can to help him get better today.  After the doctor left the office, Koby and I looked at each other and just gave a kind of ...

shrug.

Moving forward... but it kind of feels like the beginning all over again.