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.


  1. I would just have to change a few words here and there and you described our daughter's journey in a way I could never pen so perfectly. We tease that we have Post traumatic around here for the Drs, but probably a little too close to the truth. Thank you for describing this so eloquently- I now know 1 more person who has traveled the same road. Too bad that dang brain fog and fatigue keeps us blinded to one another. Thank you again for posting!

  2. Such a hard post to write, I am certain. But thank you for going to bat for adults who suffer!!! Our son has Mito and one of our two daughters is suspicious but thriving. Neither my husband nor myself have signs for now. I cannot imagine your fear....especially knowing you have to be so on your toes for your little girl at the same time Mito is robbing you. Hugs and prayers!