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?

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.
Seizures
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...

Headaches
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.

Allergies
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.

Hearing
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.