Wednesday, 27 August 2014

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.
 

6 comments:

  1. I have never heard of LCHAD before, and my heart goes out to you two. Good luck with the test!

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  2. I've never heard of LCHAD, but Jeremy has Ulcerative Colitis which is really fun! HA! His is genetic and will more than likely develop into Crohn's Disease, but I feel you. Jeremy went through all the testing and stuff way before we met, so now we are in the manage/live with it stage, which is never very fun. But otherwise, he seems healthy, so there's that!

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  3. So heartbreaking! I'm glad they covered the cost for you and I'm keeping you in my thoughts to be 100% free and clear of the gene so you can have 1 kid. (I'm with ya, my boyfriend wants three, I think 1 or two sound more than enough!)

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  4. Oh my gosh! How scary!! I've never heard of this... but I'm glad it's manageable, so far, anyway! Just continue to pray that he doesn't end up with any complications from it! :(

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  5. My son has LCHAD.. And maybe my daughter. I started a blog about it :) myawesomelchadkids.blogspot.com & I'm abrams_homestead on Instagram

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  6. Hi from Germany!
    My daughter (she's 2) has LCHAD. It was diagnosed right after newbornscreening. My husband and I are carriers of LCHAD (not that we knew before Paula was diagnosed with LCHAD...). She's on a low fat diet with MCT oil since the 10th day of her life and she eats every 4 hours max. At night she is allowed to sleep 10 hours without any meal now (if she is not ill) :-)
    Never really imagined what happens if Paula gets a child once. I think, if she doesn't meet another carrier or someboy with LCHAD, her child can max. be a LCHAD carrier, as Paula can "give" max. 1 of her 2 defect genes...
    It is really amazing that your husband was only diagnosed with LCHAD at the age of 29. I never imagined that this could be possible, after all I learned about LCHAD so far...
    I wish you all the best and your husband's story is encouraging me that Paula will grow up being fine (actuallly she is doing really fine, but you can never be sure, as it is still a rare disease)
    Best regards,
    Silke

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