One Step Closer...

We got some pretty good news this week but before I tell you about that I need to back up a little bit.  I haven't written much about my husband and how we met (even though it's a pretty cute story, well at least I think so) and there is no real reason why, I just haven't.  But that also means I have to backtrack a little bit so please bear with me...
Something pretty big happened four months after my husband and I met.  He was diagnosed with LCHAD deficiency, a rare condition that basically means that his body can't process most fats.  And yes, it's very odd that he wasn't diagnosed until the age of 29. While leading a fairly normal life, every couple of years he would end up on the couch for a 2-3 days while his whole body hurt, something he attributed to pulled muscles or just over-exerting himself.  Now we know that he was actually experiencing rhabdomyolysis, where his body was essentially attacking itself.  No one understands why it would just go away and of course he never voluntarily went to the doctor to get himself checked out.
So about two months before we met, he had another 'episode' except this time, his urine was a dark brown (sorry if TMI!) and so he asked his best friend's wife who was in school to become a pharmacist if this was something he should be concerned about.  Um ya think?  She convinced him to go to the medical clinic, they did some blood tests and sent him home to wait for the results.  And then they called and told him to go straight to the ER.  My soon-to-be new boyfriend was almost in kidney failure.  
They stabilized his kidneys, he was poked and prodded for a couple days and they brought in a few batches of medical students to witness this medical mystery.  They had no clue what was wrong with him.  I guess they somehow figured out that it was some sort of metabolic disease (I wonder if it was a real-life Dr. House who cracked the code??) and they ended up basically taking a small chunk of tissue from his arm and sending it off for testing.  He was assigned to a Metabolic Specialist and sent home with a list of instructions on how to change his life until the results came back.
The tissue sample ended up in Switzerland it took 6 months to diagnose.  And I was with him at the appointment with his specialist when he received the official diagnosis and for the next 4 hours after that as we met with a nutritionist, a nurse and a couple other medical people who did something... medical.  Sorry, it was a lot to take in at that time.  And now we know.  And we are figuring out how to live with it and so are his doctors because he is the only person in this area who has it.  The main things we have to watch are his diet (he is only allowed 30g of fat a day), his meal intake (because he has to constantly eat and not 'starve' his body) and he can't over exert himself, which is important because he owns a landscaping business which is obviously a very physical job but he really enjoys it.  So we always have food in the house, he is always hungry, carbs are actually good for him (awesome she types sarcastically) but he has not had any rhabdomyolysis episodes since his diagnosis.
So life is actually pretty normal and to look at the guy you would never know anything is wrong with him.  Every six months or so he meets with his specialist and once a year he has all his major organs tested to see if there is any deterioration.  I think we're very lucky because the only real issue he has is a lack of sensation in his hands and feet.  He has absolutely no reflexes, no one has ever been able to make his leg kick out.  So I admit that I don't think about it a lot, he's just my hubby.

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Then a couple months ago when he was scheduling his appointments, he told me that they wanted me to come and for us to meet with a genetics counsellor.  Makes sense, we are married now and we want to have kids (well I want one kid...) and I figured it was fairly routine.  But actually meeting with the genetics counsellor and talking about what could happen if I am a carrier was hard. And emotional.  And I remembered when we got my husband's diagnosis they told us not to google it because a lot of the babies that are born with LCHAD don't survive.  Heartbreaking.  But in reality, there is such a low chance that I have gene... but there is still that chance.
So they tell us that I can get a blood test, have my HADHA gene mapped and find out if I'm a carrier. For $1000.  They tell us that they will ask the government to cover the cost but there is essentially a 0% chance they will and if we want the test we will likely have to pay for it ourselves.  But they warn us multiple times that the government never covers this sort of thing. This was a hard discussion for my husband and me because my thought was the chance is so low that I'm a carrier but also, I want our baby (eventually) so don't really care if I am.  My husband was adamant that I take the blood test, he wants to know what we are facing.  We decided to wait and see what the response was from the application and then decide.
I got the call on Monday that "against all odds" the cost for the blood test is being covered.  Yay!! Happy dance!!  So in 6-8 weeks we will have a definitive answer.  Without spending $1000! Not that I think it will really change anything but I think it will give us, especially my husband, peace of mind.
I realized that day that we are very lucky.  For the most part my husband is healthy and LCHAD doesn't affect his day to day life if we manage it properly.  But it also scared me.  What about the first time his echocardiogram shows something irregular?  Or if his kidneys fail?  Because LCHAD is so rare his doctors have no idea what our future looks like.  So I just have to keep moving forward and do what I can to help manage his health.  And maybe one day soon we can start planning for baby :)      

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Have any of you heard of LCHAD or know someone who has it?  It might be nice to share this journey on stops along the way.  

Weekend Recap | First Anniversary Celebrations

I know that I am extremely late to this party but I have been quite grumpy the last couple days and in complete vacation withdrawal.  The skies opened up this morning and as I was driving to work (late, thanks snooze button that I call husband!) in a torrential downpour I realized that I have made it to hump day and in only two more sleeps it's Friday.  And the sun is supposed to return.  I might just make it friends.

 

We celebrated our first anniversary while we were on vacation at the lake last week (and we probably always will because we are always at the lake the first week of August) and I was thinking two things:

1. How did the past year go by so quickly??!

 

2. They say the first year is the hardest but it was our best one together yet!

 

I guess the next hurdle is the 7 year itch... or parenthood. 

We wanted to go back to the restaurant where he proposed, a lodge built entirely from wood high up in the hills overlooking the lake, but it closed last fall.  It was an amazing place, you always saw deer on the drive up, the food was fantastic and you were surrounded by gorgeous lake views.  It was a very special place to us so it was really sad to find out it had closed.  

 

Proposal location: a beautiful lodge with panoramic lake views

We decided to finally try the restaurant at a local winery that everyone raves about and we were not disappointed.  The wine was amazing, the view was great (although not quite as amazing as our lodge) and the food was de-freaking-licious!  

Our "new" restaurant, great lake view and food amazing enough to forgive almost anything!

 

duck liver pate with fresh baked brioche loaf



Prime rib, whipped potatoes and roasted veggies (mine)



Roasted ling cod with saffron "paella" risotto (his)

 

For dessert we had our wedding cake!  Or at least a bite of it... it was year-old lemon pound cake covered in fondant (we served a separate sheet cake to guests).  This tradition was very important to me (no clue why) and so my mother packed up the top layer of our wedding cake and stored it in her deep freeze until I picked it up a couple days before we left for vacation.  She even left the purple ribbon on it and we cut it right on the festive Christmas box it was packed in.  Thanks Mom!

 

 

The top of our wedding cake 1 year later!



Hubby's piece



My piece

Similar to our wedding last year (well not really because this time it was super short) we did a photo shoot thanks to one of my Pinterest finds (and thank you to K for being our photographer).  We took a photo of us holding one of our wedding pictures and then next year we will take a photo of us holding the photo below in a frame and so on every year.  Thankfully hubby played along :)



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The only thing missing on our anniversary was the champagne I requested... that did get put in the fridge the night before only to be forgotten about on the actual day... and then again the next day... and for the next 6 days until we left.  It's probably still in there.  Next year! 

I would love to hear what your anniversary traditions are! 

Linking up with Bella and Lisa and...

Meg:

 

5 on Friday: My Mom

Why hello Friday, thanks for showing up so quickly.  Part of me is jumping for joy but part of me is sad.  Not because it's Friday but because something horrible happened to someone in my "new" family.  
One of my sister-in-laws lost her mother yesterday.  They found out she was very sick only a few weeks ago and in what seems like the blink of an eye, she is gone.  I have only seen my SIL twice since she found out and it was heartbreaking to see how devastated she already was. The youngest and only daughter of 6 kids, she is... I guess now was... so close to her mom. I can't even imagine the pain she is going through and it sucks knowing I can't do anything to make it even a tiny bit better.  None of us can.  
So today in my link-up with the 5 on Friday ladies, darci, april, christina & natasha, I am going to talk about 5 reasons I am thankful for my mom.  
1) My mom is the strongest person I know. Basically putting her grief aside, she packed up my little sister and what was left of our life after my dad died in Peru and moved home.  Home to where my older sister and I were waiting for her.  And we built a new life.  

2) She makes the best shepherd's pie ever... it's my ultimate comfort food.

 

3) She is always there to help me when I need her.  Always.

4) My mom made my wedding cake.  My mom had never made a wedding cake and she practiced with fondant for two months.

My wedding cake

5) My mom loves me and that hasn’t always been the easiest thing.

And the next time I see her I am going to hug her a little bit harder and a little bit longer.

Long & Tasty Weekend Recap

Oh weekend, how I love thee... parting is such sweet sorrow.  Thank the wine fairy that we will be together again in only 3 sleeps!  But before I get too ahead of myself let's check out the fun that was this weekend and for me, a long weekend.   Friday night was date night in with grilled cheese, fries and gravy and of course a big glass of red wine.  The Opening Ceremonies were on at some point but I was really focused on my wine dinner and not really paying attention.    

I also gave this guy a bath and he was chilly so I wrapped him
up in a bathrobe.  He slept in it all night!

  Saturday the sun came out and a couple friends and I went out for brunch (aka my favorite meal of all time) at a new restaurant down on the water so the views were amazing.  They have a wicked brunch menu including feature sparkling cocktails on Saturdays; lucky me they are about 6 blocks from my house so I envision getting to know the place quite well.  I forgot my phone (talk about torture) so had to get my friend to take a photo of the deliciousness that was my meal.  

Smoked salmon & cream cheese benny YUMMY!

  Saturday evening was craft night at K's.  We ate appies, drank wine, watched a couple rom-coms and did actually do some crafting.  I found a DIY project on Pinterest and was excited to try it, and full disclosure that the only reason I was successful with the centering and lining up of the words was due to K's math.  Once we figured out what we were doing it was pretty easy and I am really happy with the way it turned out.

Being crafty!

  Sunday was a purely lazy indulgent day.  We hung around the house doing the odd chore but mostly chilling.  I watched all 9 episodes of Parenthood that I had banked, can you say TV binge?  I also managed to watch 3 episodes of Bones and 2 episodes of Nashville.  There was a nap in there somewhere but basically I watched TV, drank a bottle of champagne (with oj in the morning, I'm not a total animal) and then switched to tequila and Crystal Light margarita mix.  Lunch was leftover pizza and dinner was a bag of popcorn with white cheddar seasoning.  

Hubby had to run out and surprised me with the most perfect rose!



Breakfast: pizza & mimosa
 

 

Dinner: popcorn & tequila margarita

I slept in on Monday (doesn't that always feel amazing??) and then spent the day doing mindless wandering with my mom.  We did a bit of shopping and hung out and then I was supposed to make dinner when I got home and was thisclose to ordering something but the hubby stepped in and kept us on track.  It looked and smelled so amazing that I started eating before remembering to take a photo!  So easy, fairly healthy and DELICIOUS!

Cheese & bacon breaded chicken with
asparagus and roasted potatoes

Linking up with Showered With Design and Dateless in Dallas for Weekend Recap. 

 

 

 

Can't wait to read about everyone else's weekend! 

 

Allergic to Marriage?

 



I love my husband.  I love being married! I adore my husband and he truly is my other half… but I think there is a slight chance I am allergic to marriage.

From the day my engagement ring was put on my finger I never wanted to take it off.  It fit perfectly, it didn’t twist on my finger and I never had any problems.  Getting my wedding band however was a nightmare.  It’s a long story but my style was “discontinued” so when we went to order the band we were shown some other options.  We chose a simple band and wanted a row of diamonds matching the smallest size in my engagement ring, were told that was fine by email and then when we went back to the store were told they wouldn’t do it with the stone size we wanted, they had to be smaller.  So my rings wouldn’t match.  This isn't in my head, I tried on the band with the smaller stones and it looked weird.  This was my wedding ring, my forever ring, and I was devastated.  It felt like a giant road block that we couldn’t knock down and with our wedding 4 weeks away (yeah I know, we procrastinate but this had been going on for 3-4 weeks), what was I going to do??

We left that store and got into a huge fight about my (so-called lack of) driving skills.  A few hours later after dinner (and a few glasses of wine for me), about 30 minutes before stores closed, hubby asked if I wanted to go check out a mall that we knew had a couple jewelry stores because at this point what was our option? 

So we walked into a tiny jewelry store and told them what we were looking for.  The lady working there pulled out a tray of bands and we found it.  I couldn’t believe it!  We were both sooo happy!

Sorry I got a bit off topic there but now I will get back to my “allergy”…

My engagement ring was size 4.25 – TINY!  I couldn’t believe it when I found out what size it was.  When we were sizing my band, I said that I would probably need a larger size because how would the two rings together fit that small.  I was told it would be fine.  Yeah it wasn’t fine.

Ever since I have had the band (same gold, same everything) my finger got swollen and the skin irritated.  And then it got really swollen… I got my engagement ring off but my band was stuck.  So stuck that I HAD TO HAVE IT CUT OFF.

 

OUCH!

 

I then had to wait two weeks for my finger to go back to normal before I could get sized again, then wait another week for them to be changed.  I had both rings sized to 5 and I finally have them both on my finger again.  And now they twist.

LOVE!

 

My finger is still irritated and I take the rings off at night but I LOVE having them back.  And if I am allergic to marriage then I will happily suffer because I wouldn't have it any other way!

 Is anyone else allergic to marriage?