Tuesday, April 11, 2017

When Answers Aren't Actually Answers

Last fall, before Spud was born, we met with a genetics counselor.  In Ontario, part of the standard testing for children with hearing loss is a genetic work-up.  It's optional, but we decided to pursue it, even though, at the end of the day, the answers wouldn't change a thing.  Depending on the results, the testing might have been able to tell us if Bean's loss was going to progressive, if there were other things that co-occurred with it such as vision loss, and the odds of future children having similar hearing loss.

Quick biology refresher:  Human beings are "programmed" by our genes.  Children get half their genes from their mom, half from their dad.  Boys are XY and girls are XX.   For a boy child (like Bean or Spud), David would have passed on his Y and I would have passed on an X (it's all I can do really).  Different genes are "expressed" in different ways.  Some genes are expressed through eye color, hair color, nose shape, etc.  Other genes are present, but aren't expressed (carrier genes).   We have learnt a lot about the human genome and know what some of the genes do.  There are way more that we don't even come close to understanding yet.

Our meeting last fall entailed talking with a genetics counselor at length, giving as detailed a genetic history as we possibly could, and Bean getting some blood drawn.  Between then and now, Bean's blood was sent off to some lab somewhere at which they tested it extensively looking for gene variations associated with hearing loss.  Today was results day.

We had been warned that genetic testing might not show anything, but in our case it did show something.  Bean has a variation in the GJB2 sequence.   I do not know what those letters stand for, just that they are important.  Variations in the GJB2 gene are linked to hearing loss.  So we have our answer, right?  WRONG!  Even though Bean has the GJB2 gene variation, the type of hearing loss it causes is not the type of hearing loss he has.  GJB2 linked hearing loss is usually high frequency and profound, neither of which fit Bean's loss.  However, the gene can also be expressed in other ways, such as patchy thickening of the skin, which Bean has (as do I).  

So, in short, he has a genetic variation that is linked to hearing loss, but it is not what is causing his hearing loss.  At this point the geneticist believes that Bean's hearing loss is hereditary (he got it from me) on a part of the genome that they have not yet identified.  The geneticist says that I am the prototype for Bean, so that's a interesting position to be in.  We were also told that there is probably a 50/50 chance of future children having the same type of loss and that we need to make sure future children are thoroughly tested for hearing loss as soon as reasonably possible after birth and followed.

Was the testing worth it?  It was interesting for certain. And I find it amusing that we've got ourselves a zebra, because really, what are the odds of having a genetic variation associated with hearing loss that isn't causing the genetic hearing loss?

Sunday, April 02, 2017

On the move again

Real quick post tonight since it is late... I'm thinking about reviving the blog a bit, sharing some of our journey with Bean and now Spud as well.  Anyone interested?  Whether you're interested or not, I may or may not still post.  So, pretending I never stopped...
The last 3 months or so have been pretty crazy in the Ayala household.  My sister came back for a visit from Israel, Bean turned 3 (WHAT?!?), Spud was born, Christmas happened, David's mom came to visit for a couple weeks in January and then returned to Texas.  After returning to Texas, she succumbed to the cancer that she had been fighting and died, so David went down to Texas to settle things there, leaving me and the boys at our York st house to pack up and get ready to move.  David came home and about 2 weeks later we were on our way to an apartment in London.  And those are just the cliff's notes!

Why London?
London is where Robarts School for the Deaf is.  It is where we feel Bean will do the best for education.  It hasn't been an easy decision and I'll try to post more about why we decided to go this route at another time.  For now though, just a couple pictures before I hop into bed.

Introducing Spud

Making memories with Grandma


Sunday, December 14, 2014

The Mommy Club

My younger brother (Middle Brother) has an antique spinning wheel.  All but one of the spokes on the wheel are identical.  One of the spokes though is just a little bit different.  It's still part of the wheel, but just different enough to be the odd one out.
Much of the time I have felt like that "odd" spoke.  I might be part of a group, but never quite fit in.  I can be a little awkward, and just in general, different.  I never quite felt like I was at the same place in life as my peers.
In all the lonely times, especially as I got older, I held onto the fact that one day I would belong to "The Mommy Club".  The Mommy Club, in my mind, was the club that all mommies belonged to.  You didn't have to do anything to join except be a mommy.  Once you were a mommy you would belong to this unofficial club.  Every mommy would belong because they would all have something in common - they would be mommies!
Just over a year ago, I had a baby.  I could now be part of the Mommy Club.  Except I never found it.  I suspect that the mommy club is a lie, cooked up in my own psyche.  Yes, I have a baby (toddler?), yes, that makes me a mommy, but I'm still the odd spoke.  I still dance to the beat of my own drum.  I realize that the Mommy Club is as fictional as The Village in which the women all work together raising the children and looking out for each other.
They both sound like wonderful things, but like many wonderful things, they aren't necessarily real. Doesn't mean I don't often wish it were so.  I wish there was a Mommy Club, or a Village where I could kick off my shoes (or leave them on if I wanted), curl up on a couch, stretch out on the floor, or lounge on a pillow and just be with other moms who subscribed to the same philosophies that I do, or at least similar ones, or at the very least weren't adamantly opposed to them.  Maybe we'd drink some tea, maybe we would talk, or maybe we would just watch our littles be the little people that they are, not worrying about what the other mommies think about how we are parenting.
I am so fortunate to have found at least 2 other mommies in the neighborhood who I can mostly relax with - and as I get to know them better, and they get to know me better, perhaps we will become a Mommy Club.  But even if we don't, that's okay too.
The Mommy Club doesn't have to exist for me to belong.   My parenting styles don't have to match up with anyone else's.**  I do not have to defend my parenting to anyone else.   Having the support of other parents who follow similar styles is great, but I'm learning that it doesn't have to be shared face to face over a cup of tea.  My "village" is spread around the globe, and consists of hundreds of people. I can't talk to most of them about everything, but I can talk to all of them about something. I have a group I can ask questions about babywearing (however, getting hands on help for those back carries is hard on the internet!), another group I can ask about why my son has decided to stop using the potty, another I can ask about which essential oils will most effectively treat my husband's cold, and another I can turn to for support when it comes to sorting out thing related to Bean's hearing loss.  So it's not just one village, but lots of villages and I can travel from village to village with a click of the mouse.   This virtual metropolis will never quite replace The Village of bygone days (if that Village ever truly existed), nor will it replace The Mommy Club (which I suspect never actually existed), but it will be good enough.   Because when I march to the beat of my own drum, I know who will be with me all the way:

**My parenting style does have to be compatible with my husband - this parenting gig is a two person job, but other than him, everyone else can go fly a kite (and he can too, as long as he takes the Bean with him)

Monday, October 06, 2014

I am NOT a human pacifier!

The other day I was at a large baby show with many different vendors and information booths.  As per my usual I perused the various booths, collecting information, chatting with vendors that I had seen at other shows (perhaps this is a sign that I go to too many shows?), and generally having a good time.  One of the booths I saw was advertising help with sleep.  I've got a 9.5 month old...getting sleep advice is seldom a bad idea, especially since said 9.5 month old doesn't like napping.
So I stopped and started chatting with the vendor.  She asked how sleep was going.  I told her that Bean didn't like to nap and that he slept alright at night as long as he was attached to me (we co-sleep and he likes to nurse).  I told her that if I wanted him to sleep during the day I either had to lay down with him or put him in a carrier.  She looked at me and said "Oh, so you're just a human pacifier for him".
What I wanted to say and what I did say at that moment were two very different things. What I did say wasn't much.  I nodded my head, took her card, jiggled Bean in his carrier as if he was fussing (which he was a little) and told her that I needed to keep moving.
What I wanted to say was far less polite and would have taken more guts and quick thinking that I possessed at the time.  Here is my answer to her and anyone else who wants to call me a human pacifier:
"I am NOT a human pacifier.  A pacifier is a plastic, rubber, or silicone piece of equipment that is used to placate a baby in place of meeting the actual need of the baby.  I do not hate pacifiers and have even used them on occasion with Bean, but I am not a pacifier.
I am a mother.  When Bean cries and wants to snuggle in with me at night, he's not using me as a pacifier, he's showing me how smart he is.  He knows that being close to mom is a safe place to be and that I will keep him safe.   When he wants to take a nap in a carrier on my back (or front) he's telling me the same thing.  He's saying loud and clear "I love you Mom and I know you'll keep me safe and I can sleep peacefully when you are here."
When he wants to nurse all.day.long. he's not using me as a pacifier, he's telling me that he's growing and needs to eat more.  When he wants to be close to me he's telling me that he's scared or confused or lonely or that this big world is simply overwhelming him.
No, I am not a human pacifier.  I am a Mom.  I listen to my baby and do my best to give him what he needs.  And sometimes, what he needs is my breast.  Other times he just needs to be held close to me and know that I am there for him.
There are other times when he wants nothing to do with me.  When his Uncle Ben walks in the door I am quickly forgotten.  When he wants to rough house with Daddy or Uncle Isaac or Uncle Reuben he will push me away so that they will take him and play with him.  When he wants to climb or get into the dog's water or play with the fire place tools, he will look at me with his impish grin and get into whatever trouble he wants to get into.
But when he needs me, when he wants me, I will be there for him, whether it's for a snuggle against my chest or a snack from my breast, I will be there for him - I am his mother, not a human pacifier."

That's what I wanted to say.

That thing in his mouth?  That's a pacifier.  That's not me.  I'm not green.  Nor am I that small. Nor is he allowed to chew on me like that!

Saturday, September 27, 2014

General Update: Bean

Time for some general update posting! I'm going to start with Bean.  Bean is now 9 months old and is dashingly handsome!
Reality check: He usually isn't dressed quite that stunningly - we'd just gotten home from church when I snapped that photo.  Typically he looks more like this: 
or this: 
Last time I checked his mouth he had four teeth.  His central incisors on the bottom are through and his lateral incisors on the top are through.  He absolutely hates people sticking their fingers in his mouth so it is really hard to get a good look at how many teeth he has. 

He is having a lot of fun playing with solid foods.  We are loosely following Baby-led weaning, which for us means that whatever we are eating he gets a little bit to eat, with a few exceptions.  He does not get any grains, nuts, or dairy yet.  Other than that, it's pretty much all good.  He goes through phases where he has a particularly favored food.  Right now it is peas and carrots, often meat is right up at the top of his list as well.  If mama has it, he wants it.  If daddy has it, he absolutely must have it!

Bean is becoming increasingly more mobile.  He can crawl with lightning speed and is pulling himself to stand and walking along furniture and such.  He also loves to climb.  If it can be climbed, he will climb it.  We picked a climber up for him at a yard sale yesterday and he loves it.  I don't have any pictures of him on it yet though. 

He has also discovered the piano.  If the door between our apartment and the big house is open, he will frequently make a beeline for the piano.  He can pull himself up to reach the keys on his own, but particularly likes it if someone holds him on their lap so that he can reach more of the keys.  In a pinch his highchair also works as a piano chair.  The hardest part is keeping the music out of his reach because he is very much at the stage that everything and anything goes in his mouth!

Bean is not great at taking naps yet, but is getting much better at sleeping during the night (not that he was ever bad at sleeping at night). He will usually nap on my back in a carrier during the morning and we often lay down together in the afternoon for "milk and snuggles" or if that's not an option, he goes on my back in a carrier again (or on my front, depending on what is going on).  On very rare occasions I get him to lay down in his bed for a nap and then I take picture as proof that it actually happened:
We are still waiting to get a definitive "pass" on his hearing test.  We had one in September and it didn't go so well - it was neither a pass nor a fail.  We have another one coming up this  month, so hopefully we will get a definitive answer.  He does appear to hear things okay, so we aren't too worried. In the meantime I occasionally use some sign with him, but that would happen whether he could hear or not. 

All in all, he's a pretty great kid and I think we'll keep him around :)

Tuesday, September 23, 2014

Health Update

Someone asked me awhile back how my health was doing because I hadn't said anything about it recently.  She wondered if that meant I wasn't having any more seizures.  I wish that were the case, but it is not.  So this post will be a health update on me.  If that doesn't interest you, you might not want to read rest of this post.  And that is fine with me.
My last seizure was the end of August, so almost a month ago.  The one before that was in March.  Both times I could have predicted that a seizure was likely to happen well before it happened.  That's both a good thing and a bad thing.  It's great because it means that I know my body and I know what is likely to trigger a seizure and what my "perfect storm" is when it comes to seizures.  It's not so great because it means that I have had enough seizures now that I know what my "perfect storm" is...  I'll be seeing my neurologist later this week and we'll see if he has any astounding insights to add.  Maybe (fingers crossed) we'll be able to start reducing some of my medication - I'm still on the same amount that I was when I was nine months pregnant with Bean...

The headaches are still there.  Most days the headache hangs out around a 3 or so, though about a week ago it stayed at a 7-8 for most of a week.  That was not a fun week.

If I don't eat anything I'm allergic to, I'm good. :) I haven't used an EpiPen since last spring sometime, so this is a good sign.  Bean however is showing some signs of a potential dairy allergy which doesn't make me happy at all.

yup, ears are still broken.  It makes life amusing sometimes.  Today after school Littlest Brother was telling me he was going to the bush to fell trees.  He told me that if I needed him he'd have the tractor and chainsaw.  What I heard was him telling me that if I needed him to follow "vector chainsaw" which only made marginal sense, but sounded way cooler.

Other stuff
The newest "health" thing going on is something I call "sunburn syndrome".  So far no one actually knows what it is.  Everyone except my neurologist thinks it is a neurological problem - my neurologist referred me to a dermatologist.  So here's what it is:  Basically my body feels like it is sunburnt over a large portion of it at any given time.  It actually started when I was in highschool, but at the time would only happen 1-4 times a year and for less than 24 hours at a time.  Since about April/May it's been pretty constant.  It's annoying and irritating, but not the end of the world.  Combined with that has been a lot of deep muscle/bone/joint pain.  If you know what it feels like to close a car door forcibly on your arm, you have a general idea of the kind of pain - a kind of deep aching pain that you can't touch because it's so deep.  It strikes at anytime in anyplace.
The pain and the burning seem to go hand in hand, inasmuch as when one is worse, so is the other.  OTC pain relievers don't really do much for the pain or burning so I've pretty much given up on them.  Most days I just grin and bear it and try not to complain about it.
The doctor gave me one drug to try and calm my brain down so I wouldn't hurt as bad and it turned me into a narcoleptic zombie or something...all I wanted to do was sleep.  I couldn't form coherent thoughts, carry on a meaningful conversation or really function at all.  And it started affecting muscle control in my hands.  So I stopped taking it (with doctor's permision of course).  So then we tried another one and it pretty much had the opposite effect.  I didn't sleep at all.  Neither did Bean.  And my headaches were horrible.  I cannot function without sleep (one ingredient to my "perfect storm" is a lack of sleep) and I cannot function without sleep when I have a baby who is also not sleeping.  So I stopped that drug too.
I'm not sure what the next plan is.  What I'd really like to know is what this is and what is causing it. If you are the praying sort and want to pray for me, this would definitely be an area of concern - both the not knowing what is going on and the dealing with the pain part.

That's the super quick basic health update for those who are wondering.  I'll try and do a general life update sometime soon too.

Saturday, June 28, 2014

Bug Screen, otherwise known as: My husbandy is awesome

Summer has arrived in full force - meaning lots of sunshine and lots of outdoor time.  In years past I have made the transition from "lots of clothes on in winter" to "lots of bare skin in summer" (which, let's face it, basically means sweater and socks to t-shirt and sandals) without paying too much attention to it.  I was genetically endowed with naturally dark skin - sun burns really were never a concern for me and I soaked up as much vitamin D as I possibly could.  This year however, I had a little someone to think of, and this little someone did not win the genetic lottery when it came to the amount of melanin in his skin - he is as white as white can be.
As important as vitamin D is, I did not want Bean getting burnt.  But I also didn't want to slather him in the chemicals found traditional sunscreen.  So I took to the internets hunting down a recipe that would work for us.  I found this one (link opens in a new window) and whipped up a batch.

We were all set for fun in the sun when the mosquitoes began to take over the world.  Time to whip up some mosquito repellent.  I scoured the internets again, hunting for the perfect recipe that I would be comfortable with using on Bean.  My searches led me here (link opens in a new window).  I decided I would rather have it in a cream base instead of a liquid (less likely to make a mess), so I told Husbandy that I was going to use the same base that I used for the sunscreen, leave out the zinc oxide and put the mosquito repelling oils in instead.  This is where Husbandy's brilliance shone through.  He proposed that I not leave out the zinc oxide and instead mix the mosquito repelling oils in with the sunscreen!  In my mind it was a revolution - sunscreen that was also mosquito repellent!  Or mosquito repellent that was also sunscreen!   I set to work and our new invention, based off of the two recipes linked above was born - Bug Screen!

Here is the recipe I ultimately ended up using (ever so slightly altered from the first two):
1/2 Cup olive oil
1/4 Cup beeswax
1/4 Cup coconut oil
2 TBSP zinc oxide powder
60 drops lemongrass essential oil
40 drops eucalyptus essential oil
20 drops peppermint essential oil
16 drops tea tree essential oil
4 (ish) drops lavender essential oil

Since I made the sunscreen first and then later turned it in to bug screen I melted the first three ingredients together in a double boiler (glass jar in a pan of boiling water) and then mixed the zinc oxide powder in, stirring super well to make sure the zinc oxide didn't clump.  While it cooled I stirred it periodically to make sure it didn't settle out.   When I was ready to turn it into bug screen, I remelted the sunscreen and added the essential oils in, stirring well to incorporate.  
If I were doing it again, I'd melt the first three oils together, add the essential oils and then add the zinc oxide at the end.

It appears to work well and is non-toxic - Husbandy tricked Littlest Brother into tasting some of it, and he lived - however he says it doesn't taste real great ;)

Bean enjoying some splash pad fun