Friday, September 19, 2014

But you look so *normal*!

Day 2:

One very difficult thing that we went through during our search for answers and a diagnosis was how our daughters looked. My daughters and my wife are beautiful! Absolutely beautiful. Unfortunately , this is a problem when you are trying to make people understand how sick and in pain you are. When our daughters weren't screaming in pain from another bowel obstruction or screaming while we gave them a routine rectal irrigation, they were all smiles. They were so resilient, but how could they not be when to them that was all they ever knew. I just hated it that at times we were not taken seriously because people would look at them and say "but they look so good." My wife is so gorgeous. She's an absolute 10 and that scale doesn't even do this woman justice. You would never guess that her insides were so broken. 

I want to remind everyone that just because someone looks okay, or seems healthy, and just because someone is not impaired physically or mentally so much that you can tell from spending just a few minutes with them does not mean that they are healthy and fine. I have seen them go downhill so fast. I have danced and sang at the top of my lungs with my wife one night at a concert and 48 hours later sat in a hospital room with her after she suffered from Transient Ischemic Attack (like a minor stroke) at 27 years old. It could all be taken away in just a blink of an eye. 

So today my kids might be smiling, laughing, coloring, solving puzzles, and singing "Let It Go" into our karaoke machine. Tomorrow they might wake up with a cold and next week they might end up in the hospital. My wife and I might be hanging out with friends or jamming at a concert to one of our favorite bands. This doesn't mean she is doing better. She's just having a good day or she is just pushing through because she refuses to let this disease strip her of a "normal" life. Whatever that is... My family is so amazing and so resilient and every time I think something is too hard or I am too tired to do it, I remind myself of the struggle my daughters go through just to produce enough energy to be kids. I remind myself that this morning my wife could barely pull herself out of bed because she spent all night working around the house. Oh and today she cleaned, cooked, taught, and loved for all of us....all day. She does more with less than anyone I know. These girls truly are my heroes. Even though at times these girls don't look the part, the struggles they go through are very, very real. I love you guys. Thank you for working so hard for us baby, even when you can't!

Thursday, September 18, 2014

What I'm not ready for.

Hey guys, its Adam. This week is Mitochondrial Disease Awareness week. So every day this week, to spread awareness, I will write a post relating to my personal experience living with 2 daughters and a wife who suffer from Mito. 

Day 1: 

One of the hardest things for me is accepting the fact that there is nothing I can do to fix them. I've beat myself up over this for a while now. Are we doing enough? Am I doing enough. I can remember arguments between Kim and I over what she was eating or drinking. There had to be a way to eat, drink, sleep, and live that would conquer this disease right? I thought if we put together a "plan" that on our own we could find a way to beat this. It was only recently that I have accepted the fact that I have no way of controlling how this disease affects them. I know we are doing everything we can and I find peace in that. I know that if/when something happened to any off them I will have a hard forgiving myself because I will always feel like I could have done more. Made more money. Then we could have bought things to make life easier. Helped her around the house more. I could just stay up late every night and do all the cleaning, laundry, grocery shopping, etc. The truth is that while those things would help, and I have and will do many of them, it is very unrealistic to keep up with that kind of life. I look at them and I can't help but want more. They have already been robbed of so much. I can only imagine that when it is there time to go that their bodies will be so exhausted that nothing will feel better to them than God bringing them home. No more pain and suffering. I pray that when that day comes that God gives me the ability to accept this, and gives me the strength to get through it, because God knows right now this man is not ready for that. 

Friday, July 18, 2014

Late night reflecting in room 560

I am prefacing this by telling you this is probably the most open I have ever been and will ever be about what I am dealing with in this sickness. I am, by nature, too proud to complain, too stubborn to say out loud or acknowledge how much worse things have gotten in the past 6 months. But Adam has begged me, after his post, to just open up and explain from my perspective what I am dealing with. And initially I didn't want to.  I don't want pity, I don't want anyone to look at me that way. But then I thought of all the young deaths in the Mito community, many of them too little to even share their journey....and I reconsidered. It's often a very lonely road for families like ours, living in a world that only seems to see your outsides. So, because I love him, and because I know how important it is for advocacy, and for comfort: for someone else to read this and say "THIS..... this is how I feel." I guess its time to let you all in for my story, the way I have let you in for the kids.

If you hear stories of those diagnosed with cancer, patients often talk about the moment they got 'that call'. Or the moment the doctor walked in and said those dreaded words. I truly can't imagine the pain and the agony of those on the receiving end of that call. The fear and the hope and then it all comes crashing down in one instant, because you have cancer. But wait, the doctor says - there is a chance. There is treatment and we can fight it. All your energy and effort and anger can be shifted towards the fight.

Mitochondrial Disease doesn't fight like that.

No one came into a little drab room, avoided my stare and stoically said, "You have Mitochondrial Disease. I'm so sorry." We didn't get a plan... well, we did, I suppose. See, the plan is "don't do stuff that makes you worse" - like living a life. The big treatment? Its a vitamin cocktail that may or may not give you a little bit of your quality of life back. At best, it will slow down the progression of your disease so you can, you know, spend more quality time experiencing your body's failure. There is no cure...And its not for lack of trying: we have some of the most dedicated and knowledgeable physicians in Mitochondrial Medicine today. 

We spend years and thousands upon thousands of dollars being told it's all in our heads. It was stress. It was allergies. I don't know what it is, but certainly they will outgrow it. Its Celiac, Cystic Fibrosis, Lupus, MS. It's nothing at all. Its neuro-degnerative. It's seizures. It's not actually seizures. And by the way, you're too young and pretty to be sick. My personal favorite... Mostly because it really is a shame that my cells can't be powered by youth and good looks.

It's a constellation of symptoms that involves nearly every facet of the human body. You have cardiac symptoms, so they send you to a cardiologist, who deems that nothing is wrong with your heart and insists that it must be neurological. So they defer to Neurology who says that there's nothing wrong in your brain that explains your cardiac symptoms. And also, here are some depression meds for the depression you don't have.You are booted out the door to suffer another 6 months.You'll be accused of doctor shopping, medical abuse, and doing it 'for attention' because come onnnnn, who really just has a TIA at 27 years old?! People who like attention, that's who. (Coincidentally, so do some people with Mitochondrial Disease, as it turns out.)

So one day when you're almost to your breaking point... you find yourself stumbling like a wounded dog onto the doorstep of someone who sees you, I mean really sees you... They see your suffering and they know what your struggle is like. And this person finally says, "Actually, this looks a lot like Mitochondrial Disease." I'm sorry, but WHAT did you just say? You think you know why I look like a 20 year old and FEEL like a 90 year old?! And then there's tests and exams and biopsies and everything is very hmmm and hummmm and this is so fascinating... because there's no magic test to say yes or no definitively. And then one day, there it is, sitting innocently at the top of a cover sheet while you wait for yet another specialist visit. No one really says it out loud at first. There's no defining moment, no phone call and no apologies. And even then, its often a 'possible' or 'probable' in front of it, because genetically we aren't advanced enough to prove you even have it in many cases, which makes original specialist just roll his eyes and say its not even a 'real thing'. A clinical diagnosis, they call it. Which means an expert in the disease has enough evidence to believe you have it. In reality, a clinical diagnosis for most of us, is just seeing a basket full of all the garbage that has already stolen so much of your life, all packaged into one little thing with a name. It changes almost nothing, because 9 times out of 10 the doctors still either don't believe it, don't know what to do or have any idea how to treat you. Not that we aren't grateful for them trying - its an uphill battle. Because we know you didn't spend time on this in medical school. It's not your fault. But we must change this, eventually. Because I expect more for my kids. They need you. They need your understanding and knowledge and support. They need to not be called fakers and drug seekers and attention whores. They need a culture of understanding among their friends, family, workplace, and physicians.

Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process becomes repeated throughout the body, whole systems begin to fail and the person's life is severely compromised. According to the United Mitochondrial Disease Foundation, every THIRTY MINUTES a child is born who will develop a mitochondrial disease by age 10. So its not just my family, even though you may not have heard of it before us.

"Do the best you can - until you know better. Then when you know better, do better." - Maya Angelou

Most of us, by the time we get our clinical diagnosis, have come so far down the rabbit hole that we've stopped attempting to live a normal life by pushing through (which only makes you weaker) and accepted our fate and try not to cry when our friends are water skiing at the lake and we're just over here calling it a success if we get a laundry basket down the stairs in one try. You don't complain. Because as far as the world is concerned you don't look sick, therefore you have no excuse. How was your day? Fine, except for the part where I realized I am no longer strong enough to push a loaded grocery cart through the store, you think. But you don't say it. No, you just smile and say "Oh, not too bad...."

The only thing worse than living with a terrible disease is being treated by the world as if you don't. The one person I feel for the most, even more than the patients, are the husbands and the wives and the parents of those suffering from Mitochondrial Disease. Because they see it. Every single day, every night. They watch their 20-something-year-old bride struggle to breathe. They watch their children scream in pain with no relief. They watch their husband sit by, embarrassed, while they take on the 'man of the house' tasks. They also see the doubt and hear the condescending doctors and suffer, because they too, are missing out on the things that Mitochondrial Disease robs you of. They want their wives and husbands back. They want to see their child be a child. They want to just be mommy - not nurse and researcher and therapist.

Adam would tease me a couple years ago on some of my worst days, telling me it was just a matter of time til they realized I had it, too. Whatever 'it' was - we didn't know at the time. My best friend has held my hand through a seizure. She has seen me so pale and sick I could barely get out of bed for weeks. She is one of the handful of people who saw it coming in a roundabout way. My parents are amazing, they very much did their part to try to help get it figured out in my teenage years when things first escalated for me. But without the kids, there's no way anyone ever would have guessed... my symptoms were just not life--altering enough to keep pushing after the first couple doctors couldn't figure it out. But just so we are clear, no one let me down in my diagnostic process - its simply the nature of the beast that is living with an Invisible Disease. 

I'm tired. And not in the stayed-up-too-late-last-night kind of way. Not in the adjusting-to-being-a-new-mom kind of way.(Although that is, in all reality, going to be the closest thing people without Mito have experienced to what an average day is like. I don't have a choice but to get out of bed and push through. My kids need me. My house needs me. My laundry - I need my laundry, lol. But it feels right now like the day is creeping closer when them needing me won't be enough, because I won't be strong enough to suck it up anymore. There are already nights like that. There are too many nights already, when my kids tuck me in, instead of the other way around. Adam has to help me up the stairs,or worse, he comes home from work in the afternoon and sends me up to bed. He does their whole bedtime routine and brushes little teeth and puts on pajamas and gives all the medicines. They gather around my bed, and kiss me and tell me to get better. Lately, a couple times a week, this is our new normal. At first, we made excuses. I was worn out from our trip. Maybe I caught something on the plane. I needed to eat better, eat more, whatever. But days have stretched into weeks and though I am still having occasional 'normal' days (using that loosely, since my normal days are still hard for me) there are far more days that have forced me to realize that things are for the first time, stuck in a downhill slide.

And for the first time, I'm really, actually scared at how things are going.

I keep waiting for the day I can say I think things are getting back to baseline for me and it's just not happening. We will continue to pray and remain hopeful that God will deliver our family from these trials. Thank you for being alongside us, in the days past and those yet to come. There will be more sadness I am sure, but I know there will also be many more praises... and that's the one thing this disease can never take away: our ability to see the beauty in every situation.

Thursday, June 12, 2014

Sleep Study Time

Brooklyn and I trekked down to Cincinnati today for an overnight sleep study. She's had a major change in her sleep patterns and been restless in her sleep and tired in the daytime, so given the neurological stuff that's been going on, they wanted to cover all their bases and Dr. K recommended a sleep study - the best way to ensure a child is getting a good night's rest. Sleep is important for everyone, but critical for a person whose body is experiencing additional physical stress. So hopefully we will have good news that she's getting the best night's sleep she can be. Results typically take 2-4 weeks.

The techs commented on how mature BK is and how she is so full of smiles considering the upheaval she's had in the past year. She beamed with pride hearing that and said, "Well, I AM the BIG sister, soooo..."
I couldn't be more proud of her positive attitude and the way bad things just don't get her down.

Yesterday her MRI went well and she was able to lie still long enough for them to get good images - this is huge because in the fall, they had to use general anesthesia (twilight sedation was not advised by anesthesia due to our family history). This is the results we are probably most anxious waiting for, Dr. K suggested the changes in her MRI would be a good predictor of how quickly things are changing, or hopefully confirm that this is not going to be progressive in nature. We will wrap up the week with 6-7 hours of academic neuropsych testing. This will tell us tons of information about the way she's processing information, her current IQ, which will establish a baseline if she continues to lose skills. If there is one area of the brain where skill is much worse, we can then take that information and look at that area in further detail. It will also be a huge asset in helping us develop a plan of attack for next school year, and help determine what might need to be set forth in her IEP, so we can relieve some of the stress she endured this year with tests being timed, etc. She's still a very smart little girl, so it's difficult to see her struggle. I can only imagine how she feels not being able to do things she knows she could do in the fall. I tell her to try not to worry about how long it takes her, just to focus on quality of her work and give her best effort. I'm very proud of how she handled herself throughout the school year, leaving public school and working from home around her symptoms, headaches, challenges, and appointments. She definitely belongs in our family of troopers!

I so look forward to the drive home with her tomorrow. It's special time that she and I get to be alone and chat excitedly about all kinds of things - yesterday we talked about which cloud heaven was on (her choice of topic) and argued over what flavor of ice cream is the best (mine) and wondered aloud what everyone was doing at home and how they could possibly survive without us for a night. :)

Tuesday, June 10, 2014

We're back!

The new site I tried to use for blogging was simply not as user-friendly (aka mom-who-already-doesn't-have-enough-hours-in-a-day-couldn't-easily-just-type-up-a-blog-post) as I had hoped, so, we are moving the blog back here to Blogspot. It's hard to believe I had hardly written more than a couple of blogs this year - but honestly, we went through a phase until fall where there wasn't much change. I'm going to import the blogs that were written on the other site, for preservation of our history here. And expect to see more of me, as Adam and I feel that we are at an important crossroads in this journey, and there are things that have yet to be shared. We have been waiting and praying for the timing to feel right to share the details with you guys.

Things are not easy right now. I'm too exhausted to even consider seeing our entire current summary of issues on paper tonight, but suffice to say we really need your prayers - for healing, for lifting of a few burdens weighing on us, and strength for the days ahead. And most of all, for courage - that we may not become angry or resentful that we appear to have won a terrible lottery of sorts. I never want to be angry at God again. I never want to view our life as unfair. I don't want pity. We are blessed with obstacles that have brought about a lifelong change in us. We are uniquely positioned to tell our story, share our faith, and the obstacles that seem to never end are like a sharpener, fine-tuning our ability to say "God's not done here. THIS is not the end. The suffering is NOT for NOTHING."

It was hard when Addison got sick.
Then I learned the real meaning of hard throughout the first year of Audrina's little life.
And now she's two and a half, and our battle has grown yet again, and twisted in ways we could not have imagined nor prepared for. I'm now having to learn how to push through and continue to advocate for them, while respecting my own disease process enough to know when to hang up my hat temporarily and let Adam take over while I rest. Admittedly, I'm not good at it. I hate laying in bed watching him do everything, but when your body says 'enough's enough' - you realize quickly your only option is to listen to it. I've hit a wall where I can no longer just ignore my own limits and push through the pain and debilitating fatigue. Doing that has only led to my health deteriorating even faster. It's so difficult because one day I am feeling pretty good and the next I can be all but bed-ridden. And our sweet, beautiful Brooklyn, is facing a courageous battle as well - with a rapid change in her health over the past 9 months - what started as what we thought were simply migraines has progressed very quickly into regression, learning challenges, physical ailments and abnormal brain activity. She had an MRI today, and we will be diligently awaiting those results, as much of our plan for her hinges upon what her brain is doing in that gorgeous, kind, amazing head of hers. She's also facing a sleep study, 3 day hospital for EEG, a very long day of IQ and educational testing, and a spinal tap.

So, if it seems like its an insane amount of things for one family to be going through, well, it is. But we will trust that it's all for a greater purpose that one day will be recognized; and until then, we will do our best here with our time here on Earth to stay cheerful, joyful and prioritize loving one another.

"Do not be *conformed* to this world, but be *transformed* by the renewal of your mind... that by testing you may discern what is the will of God, what is good and acceptable and perfect."  Romans 12:2

Sunday, May 26, 2013

We've Moved!!

Over 200,000 views on this blog. You guys are incredible. Truly, your unwavering support over the past 2.5 years has been a real blessing on difficult days. I wanted to share on with you that I have moved the blog to a new host,

I hope you will join us on the new site, its much more user-friendly and bright and sunshiney - just what we need :) I will continue to leave this page open for those who want to delve into our extensive history, but from now on, all the new posts will be on the new site.

What great timing, because we are soooo close to having answers. Keep those prayers coming. I look forward to sharing with you on the new page - so come on over!

God bless,


Friday, May 10, 2013

An open letter to Abercrombie CEO Mike Jeffries

Mr. Jeffries,

I have no doubt you've received many letters from the 'haters' who weren't cool enough, thin enough, or popular enough to wear Abercrombie and Fitch.

I wasn't one of them.

I started wearing Abercrombie when I could only fit into Abercrombie Kids - a scraggly 12 year girl with no shape at all, who was lucky enough to have parents who traveled often. There was no 'Abercrombie Kids' in my town... so I was lucky to be amongst the elite handful of preteens who first started wearing it, like the high-schoolers we so desperately emulated. I saw your blond, sun-kissed models on the walls and anxiously awaited the day I'd be 'big enough' to shop at the main store.

Flash forward a few years... I've, as they say, 'come into myself'. My angles turned into gorgeous curves, my acne-covered former skin is now tan and smooth with just a hint of makeup. I'm 17 and a size-zero, blond-haired, beauty queen. I can say that now - because with 10 years of looking back, I can finally see myself as I truly was. But in reality, at that moment I was an insecure girl in a mini-skirt who flatteringly accepted when a tan boy with blond curls approached me while shopping and offered me a job. I was 'Abercrombie material.' My confidence soared.

Today...I'm nearly 30, I've given birth to four kids and you know what? A decade later, I am still a damn good-looking, size-three blond who wouldn't look at all out of place shopping in your store. So my point is, I'm qualified by your own standards to be worthy of your attention. You can tell the rest of them "too bad for you" if you want, but I spent too many years of my life wearing your clothes, contributing to your financial success, and most importantly - being a judgmental, exclusive bitch. Because YOU sold me on the idea - you told me that's what men wanted. In your catalogs, on your walls, the music you played... you were a voice in my head that told me the only important thing to be was popular, and the only way to be popular was to be sexy. You reminded me with every advertisement that my worth lay exclusively in my ability to look good in a bikini next to a stud wearing A&F board shorts.

You've created a niche. I have a Bachelor degree in Business, I can appreciate that. But consider this: You don't see social media peppered with hate mail to the CEO of Lane Bryant. Why do you suppose that is? From a business standpoint, you're exclusively marketing towards a narrow demographic. That's not illegal, it's good business sense.

Perhaps it's not being exclusionary that made people hate you. Perhaps its because they realized through your interviews that you never grew up. The rest of us are admittedly ashamed that we took part in creating an image that made so many feel inadequate. But you aren't for some reason. The fat girls are fat and that's not your problem, right?

Well, it may not be now... but in 10 years, I can promise you: it's going to be. I am the proud, loving mom of four gorgeous, thin, 'all-American' little girls. And I can promise you, they will never be wearing Abercrombie and Fitch. By the time they are old enough to choose their own attire, they will have learned that they have so much more to offer than a tiny waist. That the most important thing they wear is a smile, not a brand name. That being cool is treating other people with respect - no matter their shape or size. And you know what? There are hundreds and thousands of other moms just like me. Together, we are raising a generation of little girls who have bigger dreams than being crowned homecoming queen.

In ten years, Mike - YOU are going to be the unpopular one. You market to young children exclusively to plant that ugly seed of self-doubt in their minds. You tell them they NEED Abercrombie to be liked - that's the message here. And that's just not cool.