Glasses and Genetics


We recently learned that our oldest – Ezekiel – would need glasses.  It’s taken me some time to process this, and I’m surprised at my internal response to this need.  At first it didn’t phase me, and quite honestly it didn’t surprise me at all, not because I thought he was having trouble seeing (I didn’t pick up on any signs) but because I’ve been wearing glasses since I was 2.  Yet the closer we came to actually ordering and picking up the glasses the more conflicted I became.

Glasses are now going to be a permanent accessory for Ezekiel.  From now until he dies he will need to wear glasses.  This is huge, and maybe I think it’s huge because I absolutely hate wearing glasses, I hate that I have to wear glasses to see, I hate picking out glasses and I don’t enjoy them as an accessory.  To clarify, I love being able to see and I am grateful for such a tool that allows me to see clearly and I’m grateful for healthy eyes but I still hate glasses.  I hate even more that my son is having to wear glasses at such a young age.  I’ve been processing this for a while and asking myself why I hate it so much.  I mean, it’s really not a big deal at all and I shouldn’t be making it one but I just couldn’t shake the disappointed feeling.  People’s first response when I tell them that Ezekiel needs glasses is: there are some really cute kids glasses, he’ll be so cute!

Yes, he’s cute in general and glasses do add another level of cuteness (he could seriously be a glasses model) but it wasn’t just the physical appearance that I’ve been processing and I was trying to put my finger on why.

Yesterday I think I came to understand why.

Genetics.

We all know that when you have children you pass on certain traits.  When talking about evolution, passing on traits is the reason plants and animals procreate.  The thing is, we really only want to pass on the good traits especially when it comes to physical traits.  We also all know that we can never just pass on the good traits, we pass on so many more things.  Now, I’m not a genetics expert, in fact I know very very little about genetics (I really should know more) but I do know a few things:

  1. When a child is conceived they receive 23 chromosomes from you and 23 from your partner/co-creator.
  2. In most cases nothing goes wrong with that.
  3. In other cases there’s a chromosome missing or an extra chromosome that sneaks in.
  4. In still other cases you or your partner (or both) pass on some form of mutation in any of those chromosomes.
  5. In still other cases a mutation just “magically” appears.

I know many stories of all of these situations and I am one such story.  I have a genetic condition that is the result of a “magical” mutation.  I have Marfan Syndrome which is an autosomal dominant condition meaning you only need one copy of the defected gene to have the disorder.  The way you receive that copy is from one of your parents – unless it’s not (like me).  My mutation just happened with absolutely no family history but I have a 50% chance of passing it on to my children.  I’ve never cared about passing on my gene in theory.  When conceiving and carrying my children and even now I have the option to have them tested for this mutation.  I’ve always chosen not to because at this point it changes nothing.  Having said that I am in constant wonder and always looking for signs that they did receive that mutated copy of my gene.  So far, other than having a bit fairer skin then the typical mixed race child they really have very little physical traits that associate them as my children and I’ve always taken that as a sign (and hoped it was a sign) that I didn’t not pass on my mutated gene.

Until now.

Now I question it.

Now I wonder.

Now I’m on full alert.

It’s unknown if astigmatism is genetic but it is known that the chance of astigmatism is higher in a person with Marfan Syndrome.  Of course astigmatism is also prevalent in the general population so it’s not a good sign of Marfan Syndrome but for me it places a check mark on that mental list I have going of physical traits of Marfan Syndrome.  Up until now that list has been blank. Now I find myself wondering and running through the possibility and coming up with imaginary scenarios.

So yes, glasses is not a big deal in reality but to me it means just a little bit more.

Thankfully though, Ezekiel can see much better and in the end that’s what really matters here.

 

 

Letting go…

I am now 23 weeks pregnant and some things have changed for the better.  All of my physical ailments are still present and mostly worse – so no good change there.  I was reflecting this morning how much this pregnancy has humbled me.  My fantasy for my second pregnancy before becoming pregnant was that I would be a beacon of health, that I would be in tip top shape and sail through a second pregnancy.  However, this pregnancy has been the exact opposite.  I went into it still not healthy from my months of health issues that were happening this past year (that are still not figured out).  My first trimester consisted of constant nausea and exhaustion resulting in me sleeping the majority of my free time away.  My joint pain started extremely early at 8 weeks and has only progressed and worsened, resulting in me being unable to do much in terms of physical activity.  Simple tasks like laundry, house cleaning, grocery shopping or errand running bring on types of pain I didn’t know existed.

So, this pregnancy is not what I had imagined, yet it is teaching me and pulling me in ways that I really needed.  I am learning that despite what I think I am not an island to my own.  I cannot possibly do everything by myself, I truly need a village.  I have had to ask for help and accept my limitations so much and so early on.  I have to rely on my husband to do things like take out the garbage and carry the laundry up and down the stairs.  He’s had to make and clean up meals far more than he’s used to.  I have had to ask for help from all of my physicians – suggestions on how to just live with a little bit of quality of life (and they have been excellent).  I have had to sit down with my manager numerous times and ask for modifications in my work – schedule and duties and she has done it willingly and with so much grace and understanding.  I have had to lean on God like I haven’t had to in so long (this is really good for me).  When someone is over and they ask if they can help I am eager to pass off tasks instead of decline and do it myself.  I have had to settle for “good enough” instead of “perfect” when it comes to my house cleanliness.

So no, this pregnancy is so very far from what I desired and dreamt about but it is absolutely everything I need in my life right now.  It’s so easy for me to get wrapped up in accomplishing everything alone, I’m an independent person through and through.  This year has been a full year of struggling with my health and it’s taken this pregnancy for me to let go of the guilt and disappointment of it all.  Of my health plummeting and with it my weight increasing and activity decreasing, of not being able to accomplish everything I want to each day because of pain and exhaustion, of struggling financially because I can’t work over full time like I did in 2015.  I’m letting it all go and embracing the community of people that surrounds me that desires to help me.

We all need a community to lean on and I’m so very thankful for mine.

Insomnia

It seems overtired ramblings are almost becoming a theme here.

I went to bed 3 hours ago.

I laid there for 2 of the last 3 hours and was unable to fall asleep.  Instead of getting frustrated I got up and did some chores I should have done before bed – wash, dry and put away the dishes, fold the load of dry laundry, prepare Ezekiel’s lunch for tomorrow.

So all that is done, but while I was doing it I was mulling over WHY in the world am I still awake?? I very very rarely suffer from insomnia (unless I’m sleeping during the day post night shift).  I am having quite a bit of heartburn tonight – despite a ginormous dose of a PPI prescribed for that.  So that could be it, or at least contributing.  Is it stress – that too is likely contributing.  Although I don’t feel super stressed I can’t deny that my current health is starting to really weigh heavy.

The interesting thing is that I no longer fear it being something incredibly serious and scary.  I’m not really sure why – my symptoms have become even worse than they were the last time I wrote.  I’m not going to get into that again but it’s pretty bad now.  Even as bad as it is I still catch myself daily analyzing them – is it really as bad as I’m making it out to be? (yes) Is it really necessary to get so many investigations? (yes) Can’t I just live with this – make it my new normal? (no)

I think I’ve officially come to the point of frustration and I’m realizing the frustration all lies in lack of control.  Of course it sucks to feel crappy all.the.time. but the frustrating part comes in not being able to do anything I had planned for the year.  I had really big plans this year – MCAT, Yoga, Steps, possibly baby #2 and all of that has been thrown off course, put on hold.  I’m here waiting for the next step but the next step isn’t even in my line of sight.

The internal medicine doctor that I have been seeing is equally stumped and frustrated.  He can’t clinically narrow down a diagnosis and so we wait for more tests and more consults meanwhile trying to treat the symptoms – which has been difficult and unsuccessful thus far.  I’ve tried desperately to manage the symptoms with diet thinking maybe if I just get a little more strict with this or that – maybe that will fix it.  Nothing I’ve tried thus far has worked.

So here I am, unable to sleep overanalyzing life desperately trying to cling to control of anything. It’s probably why I’ve become even more obsessed with plants (it’s a real problem) and why I wore myself thin trying to get my greenhouse up and running (IT IS! YAY! More on that later).  Tonight I’ll just try and accept what is and live life anyways – starting with sleep.

Stress Away is diffusing, chamomile tea is being sipped and worship music is playing.  I think those will all help.

Good night friends, thanks for sticking with me through my ramblings.

 

I’m Not Immortal

It’s not often that I have health concerns – I count myself very lucky that I am a relatively healthy person (aside from that pesky genetic mutation).  I don’t often have to go to my family physician with any sorts of concerns other than my regular annual check up.  I make my rounds through my list of specialists each year and when I’m pregnant it all ramps up quite a bit as a precaution – so it may seem to the outside world that I’ve got a lot going on but overall I’m happy and healthy.

A couple months ago I started having some concerning symptoms – pain, intermittent nausea, constipation, feelings of fullness, lack of appetite and fatigue.  My closest nurse friends shouted from the roof tops – go the your DOC! I promised and promised and re-promised but I’m really good at ignoring and putting things aside.  I learned to live with the discomfort and didn’t really pay it much attention, often I’d think “hmm… it seems to have fixed itself” and I kid you not, each time I thought that I’d get the now familiar jab to my abdomen – a reminder that something is still not quite right.  Then about a month ago my body sent me an alarm that can’t be shoved to the side or ignored – unbelievable constant heartburn.  That was my final straw to finally go and see my physician.

I work in two different places – both in Oncology and so I realize my view of the world is very skewed yet with every new diagnosis I see I think to myself – a few days ago they thought they were healthy and now their world is turned upside down.  It’s a big joke in the Oncology nursing world that we all think we have cancer at the slightest headache, but it really is impossible to get that out of your head when sometimes that’s all it takes for someone to come in to their Dr and be diagnosed.  I don’t actually think I have cancer but historically in my life I get ominous feelings – a feeling of knowing something isn’t quite right before I get an actual diagnosis.  My infertility and PCOS is a prime example – I didn’t need a full work up to know exactly what was going on and I wasn’t surprised or shocked at the diagnosis.  It was the same with my Marfan’s diagnosis – I got the phone call and a sympathetic genetic counsellor on the other end saying “I’m sorry, it’s come back positive,” cheerily I said “I thought it would! Thanks for letting me know!” She seemed taken aback – “you don’t sound upset or surprised” and I replied “Well, I’ve been assuming that’s the correct diagnosis most of my life so it’s actually nice to finally have a confirmation.”

This week my current symptoms have been screaming at me – I can’t tell you if they are truly worse or if my final acknowledgement of them have made them more real to me.   This time is a bit different than every other medical issue I’ve had – I have not a clue what’s going on and my only assumption is the worst one.  My Dr is quite stumped as well and can only offer that maybe it’s a mechanical bowel issue – I’m almost certain that it’s not but I’m willing to test out that theory.  My blood work is almost perfect – but that’s not very reassuring for me, I almost wish it wasn’t so at least we’d have a direction.  We’ve talked about lifestyle and diet – I thought at the beginning it was stress related due to my work situation, I changed that up and have no work or home related stress at all – symptoms persisted.  I know my diet isn’t perfect but compared to the vast majority of the North American population it’s pretty close to being flawless, I make an effort to drink a lot of water, eat lots of fresh fruits and vegetables, avoid processed foods of any kind, no refined sugar of any kind.  Of course I treat myself here and there and maybe I just need to be more strict – so in hopes of figuring it all out I’m going to once again get my diet to a strict gluten, sugar, dairy free diet, maybe that’ll help.

It’s really rare for me to be concerned or worried about anything health related – even cardiac wise, which is my biggest risk, I have a carefree attitude but this time around I just can’t shake it.  I think for the most part as I’ve gotten older, and as I have started a family, I realize that I’m not a superhero that can survive everything.  I am but a mere mortal at the mercy of whatever gets thrown my way.

I don’t mean to be so negative and really I don’t think I have cancer, and to be honest I just needed to get this all out as some stress release.  I’m just ready to start feeling well again and the more days that pass the farther and farther away that feeling gets.  Right now my norm is naps in the day and sleeping from 730pm to 7 am.  I used to be able to clean the house, do the laundry and prepare the food all in a day, recently I can only do a portion of a couple of those things throughout the day and the rest of my day is spent resting.  I’ve taken for granted my health in the past and today I am thankful for an incredible health care system (even a broken one) which includes an amazing GP who truly listens and investigates concerns.

Life Stresses

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This summer truly has been a struggle for us in the Monteiro household – and last week I promised to give you the low down.  I’ll start in July the last time my parents were here to watch Ezekiel.

Ezekiel has always been a great napper, right from day 1 he literally would only wake up to eat.  He very gradually increased his awake time but even at 8 months old he could only stand to be awake for 2-3 hours at a time.  When I went back to work he went down to one nap because that was easiest with the dayhome.  Even when he’s tired he’s mostly pleasant but certainly you can tell when he’s exhausted.  Everyday he would come home exhausted and everyday I chalked it up to all the playing and stimulation he got at the dayhome.  When my parents were here it gave me an opportunity to notice that he was a lot more tired than I had thought.  For 10 days he took naps that were consistently 4-5 hours long.  I know, who worries or complains about their child sleeping?! The thing is he was also sleeping for 12 hours at night for a total of 16-17 hours of sleep per day and was still looking and sometimes acting very tired.

Thankfully I work with my pediatrician and so on the Sunday after this had happened for 10 days I asked what he thought – he suggested bringing him in for some blood work to rule anything out but wasn’t too concerned at the time.  We did the blood work but didn’t hear anything back.

The mom part of me thought “Great, there was nothing worrisome in the blood work so I can just let him sleep and not worry about it.”

The nurse part of me thought, “I need numbers and concrete evidence that everything is ok.”

The next time I saw our paediatrician at work I asked if he had seen it – he hadn’t as it hadn’t been flagged for his review.

Let me take a second to do a bit of teaching – you are responsible for your health (and your children’s).  You are the advocate and it is your responsibility to follow up on everything.  So many people assume that everything is fine when they don’t hear back from doctor’s offices, but the thing is those doctors care for a large amount of patients and their staff are human.  Both of those things means: 1) mistakes are going to happen and 2) there’s no way to follow up on every single thing that is talked about unless that patient brings it to follow up.  My suggestion (I’m talking to myself as well) is that if you leave a Dr’s office with a task (get blood work, or go for tests, or take this medicine for such and such time and see how things are ) you need to make sure you book an appointment to follow up on that task and not assume that it’s going to all be taken care of. In this situation my paediatrician knows that I can’t always afford to take time off work and since we often see each other on the weekends at work that we could just follow up that way.  In the future I’ll always just suck it up and book the follow up.

Ok now I’m off that soap box.

He promptly went to take a look and then came back and pulled me out of a patients room (that’s a good way to cause a heart attack in a mother).  Ezekiel’s blood work looks a little funny – his hemoglobin is low, and his iron is half of the lowest normal.  So there’s the reason for the fatigue and lack of energy – however it goes a bit farther than that.  Based on the rest of the blood work that was done it is very suspicious of a genetic blood disorder called Thalassemia.

IF that is the case I doubt that he would have a severe form of it and at first I was feeling not really stressed about it.  However, the longer the time goes between then and knowing for certain the more stressed I am feeling about it – probably because that’s not the only thing going on with us.

Let’s move on to Carlos.  Carlos is a student and is very committed to doing well in school – this has resulted in a lot of stress for him and also a lot of anxiety.  Two weeks ago he was writing final exams for the summer semester and was complaining of a persistent headache.  I (as the good nurse and wife that I am) brushed it off and chalked it up to being tired and anxious.  Thankfully Carlos was doing some google research of his own and suggested that he take his blood pressure.  We’ve known that he’s had slightly elevated blood pressures in the past – but at that point he’d only had his blood pressure taken a hand full of times in Dr’s offices where he is always anxious.  Anyways, I sent him to the nearest Shopper’s Drugmart to use their machine by the pharmacy.  He came home and took Ezekiel upstairs to have a bath and get ready for bed, I didn’t ask at that point what his blood pressure was because I really wasn’t too concerned.  When I went upstairs he casually showed me the picture of his blood pressure reading – 198/125.  I nearly had a heart attack at that point thinking of the dangers of a blood pressure that high.  I immediately put Ezekiel to bed and asked our roommate to listen for him.  We went to Emergency – which was a big waste of time as they did nothing for him – that’s another rant in and of itself that I won’t get into.  The next day I took him to our family doc who is phenomenal and we started him on some blood pressure medication.  That was a week and a half ago and we’ve been diligent in tracking his blood pressure since then.  It hasn’t gone down to normal but I think we are on the right track.

Last week I was really feeling the stress of both of those things and on top of that I had been sick for the 4 weeks prior to that and am just starting to feel like I’m getting back on track health wise.

In the midst of all of this I have realized that even when I mentally don’t feel stressed – like in these situations, physically my body is responding to the stress.  People always talk about feeling stressed and I always assumed that applied to mentally feeling the stress.  I’m learning that mentally I rarely feel that stressed, I can rationalize my way through most situations and that contributes to not feeling a lot of mental stress.  I’m thankful for that coping mechanism because when I do mentally feel stressed I shut down and can’t motivate myself to do anything.  However stress is felt in so many ways other than mentally.  I can tell that my body is continually fighting off sickness because I’m physically feeling the stress of our current health situation. Eventually it has boiled over to this general feeling of anxiety that I just can’t pin point – I am NOT an anxious person at all but lately I’ll have a day or two where I just can’t seem to fight off this feeling of a bit of anxiety.  I’m so thankful I work with amazing people who continually help me talk through each situation which helps me forget about it and move on.  Later on I’ll talk about some natural strategies I’m using to help my body deal with the stress.  Yesterday I got thrown another curve ball that’s piled on the stress so I’m going to be trying very diligently to combat the stress with some natural remedies.

I’m sorry this turned into a book! Thanks for reading this far.  I’m so glad for great healthcare and amazing doctors who look after my family.