Friedreich's Ataxia

I ran this year’s New York City marathon to raise funds and awareness about an incurable, #RareDisease which affects someone I love.  I think the enormity of a marathon made me feel like I could do something more than just sit on the sidelines. The training and planning also provided a distraction from the fact that life is often not ideal and always very much out of our control.

My friend’s daughter, Annie, was diagnosed with #FriedreichsAtaxia, a degenerative muscle condition at the age of nine. Now a high school senior she requires a wheelchair full time.  Despite her parents’ herculean efforts to find a cure, medicine and miracles take time.  Anyone living with a progressive disease, however, knows that time is not a friend and its relentless progression leaves all standing in its wake completely gutted.

There is nothing worse than seeing someone you love suffer with no recourse to prevent it. Two years ago I watched my dad slip away to #Dementia. My daughter, 20, who has autism struggles with the simplest of tasks every day. We are all bombarded by constant reminders that we don’t get to write the script.

Leaving it at that though leaves little motivation to get out of bed – generally not an option when there are kids to feed, dogs to walk, jobs to do and marathons to run. Much has been written about the grit and resilience required to weather tough times, less about the game of smoke and mirrors and the mental strategizing necessary to get up and plow through.

With my daughter I hyper focus on the small details that make the day better (a new skill gained or a joyful mood) because trying to wrap my mind around the larger picture (what she will be doing in ten years) takes my breath away. So I highlight the small moments and victories. And as a host of behavioral therapists have taught me, I break down the big stuff into manageable pieces.

In early June I printed out an 18 week marathon training schedule.  Day by day I checked off the miles. Every now and then I’d glance ahead at the long runs. Landing on a number like “14” I’d quickly retreat back to the day at hand. I learned it’s hard to think about big numbers when you’re focused on breathing, hydrating and stretching, avoiding cars and uneven pavement or studying the sunrise and leaves starting to turn.

Throughout New York’s 26.2 mile course I repeatedly encountered bright yellow Ted Lasso inspired signs emblazoned with the word: BELIEVE.  They appeared in every borough, held high by people of all ages, from all walks willing runners to believe that we could keep going and one mile at a time that we could wrap our hearts and minds around the big stuff.

Maybe it was dehydration but just like that right before the 59th Street Bridge (mile 13) my dad showed up cheering from the sidelines. My daughter was home working on college applications.  And Annie’s biggest concern was making it to a field hockey game on time.  Maybe that’s what they call a runner’s high – the state of euphoria you feel when you’ve pushed yourself to believe that for a few hours on a sunny Sunday in November the world is not spinning out of control, everyone you love is ok and you get to rewrite the script.

I'm 24 and I'm in a wheelchair. I was diagnosed with #FriedreichsAtaxia (similar to something like MS) I got married pretty young for a few reasons... don't judge. please. 1. I was totally in love (the typical) 2. I was told because of my disease, I was going to die young and I wanted the experience. 3. honestly, I was tired of my mom taking care of me. I wanted freedom in a way and my husband is super supportive and takes care of me. He has seen me at my total worse and still wants me. Now 2 years later, my doctor is expecting me to live long cause I'm in great health. low key I'm thrilled but at the same time I'm not. maybe that's my #Depression talking but my disease has gotten worse and I'm miserable. I'm not happy in my marriage but I also feel like I can't leave because he helps me so much. I also don't want to move back home to where my mom has admitted that I made her life miserable by taking care of me. I feel like a nuisance. #Disability #Anxiety #Wheelchair

I Can’t Breathe: Receiving a Diagnosis for my Child

DawnGraczyk

My eyes flew open and the brightness of the blue summer sky blinded me. I was lying on my back on the concrete. “I can’t breathe!” I panicked.

I had just finished first grade and though I had just as much bravery on the monkey bars as my peers, I lacked skill. Being a determined young thing, on this day I had ridden my bike to the school playground to practice my “cherry turnovers”. This trick involved laying over the bars on one’s belly and reaching to the fat bar by one’s toes. I was short so this was quite a stretch. But I reached it. Next came the scary part. After a couple deep breaths I threw my feet forward. My legs should have swung behind me and then come in front. My hands should have remained on the bar. That’s not what happened.

Our playground would not pass safety standards today. It was an asphalt lot with swings, a merry go round, a couple metal slides and a bunch of concrete culverts. The monkey bars sat over a small bit of sand, just ahead of a culvert. It seems when my legs came forward I lost my grip and flew off. My head hit the culvert. I landed flat on my back on the asphalt. I blacked out and when I open my eyes not only did everything hurt but the wind was more than knocked out of me.

This is what receiving a diagnosis is like. When I think to the day I was told my daughter had FriedreichsAtaxia, the moment the news was delivered, this is what I think of. This is how it feels.

I can’t breathe.

Receiving a Diagnosis

Four weeks of waiting for labs hadn’t prepared me. Although I saw the signs and prayed fervently for God to prepare my heart to accept whatever was coming, you can’t fully prepare. It’s devastating. It hurts. Words fall short.

The night before our follow up with neurology my daughter asked me, “What if this is genetic? What if I’ll never get better?”

“If it is, we will deal with that then. God will make a way. “

“Dad says it won’t be genetic. The doctors already told him it’s not. So we don’t need to worry, right?” her eyes pled with me to tell her what we all wanted to hear.

“I can’t give you a for sure answer. But I’ll be there with you.”

And there we were in the patient room. The nurse came in and I told her our labs should be back.

“Oh, if they were I’d have seen them and I haven’t so…oh…,” her eyes betrayed her, “I’m going to get the doctor.”

I smiled meekly at Marissa and texted a friend. “Please pray. Pray now.”

The doctor entered and I asked repeatedly about the labs. She forced a sad smile. She couldn’t lie but she couldn’t bring herself to tell us. She did a full neurological exam and would not answer my request for lab results. Finally, there was nothing else to do.

“The labs are back. Your daughter has FriedreichsAtaxia. There is nothing we can do.”

What do you say to that? How do you respond in that moment, with your child next to you?

I can’t breathe.

Alone in a Room Full of People

My friend wants to know where Eric is. He’s at work. Am I alone? I feel alone. Where is God in this moment? In any of this?

All His ways are mercy. He is faithful. Is He? I can speak that to myself but my heart doesn’t feel it.

Somehow, I’m able to separate my mom self from my nurse self. I begin to plan. I ask for cardiology and developmental health consults. I ask for CoQ10 dosage and nutritional guidelines. I inquire about any drug options at all for slowing progression. But I’ve come to the appointment more educated and prepared than the resident doctor delivering the diagnosis. She tells me there is nothing she or anyone else can do. She refers me to the FARA website.

And that’s it for them. In their mind, it’s all over.

I call my mom, my friend. “Are you OK?” they ask.

I’m numb. I feel like I’m suffocating. But my daughter is here. I can’t do this now. Now I must be strong.

Each Breath Hurts

Over the next couple weeks the days pass in a blur. I make it through the motions. We eat. We read books. I think we laugh. But at night when the kids are asleep and it’s just me and a nursing baby, I fall apart.

The tears start and they fall all night. I sleep very little and when I sleep it is with restless dreaming. I find myself crying in the kitchen at 6 am as I pour coffee, knowing I have one hour to feel before I need to be strong. I can’t do this. I don’t know how to be her mom anymore. I wasn’t a good enough mom in the first place, I am certainly not equipped for this!

It was the most painful time of my life. I didn’t think I could make it through. I simultaneously found myself screaming at God and pleading for my child. Expressing anger and praising Him. If He is sovereign, and He couldn’t be God if he isn’t, than He could have stopped this! If He is sovereign and this is genetic, than He created us this way! HE CREATED US BROKEN! Why God?!

One of the first texts I got after the news was simply, “You didn’t do this. God is not punishing you.” My friend knew me well. I spent a great deal of time remembering my past sin and wondering if I was to blame.

All His Ways are Faithfulness and Mercy

God was gracious. I cried out and he listened. I railed and he was silent. And when I had finally reached a point of stillness, where I was ready to hear, He spoke to my heart.

“I’m here. I’ve always been here. I’ve created all of you beautifully, for my glory and your good. Just as you do not always share your reasons for parenting choices to your children, sometimes I will not explain mine and you must rest in the knowledge that I am your perfect and loving Heavenly Father. So much will not make sense now. Even if I was to tell you, it wouldn’t make sense to you now. I am God. You are not. Your daughter is first and foremost my child. MY precious child. I am holding her in my hands as I hold you.”

I would like to say that was the end of hurting. That from that time on I felt safe and secure at all times in the love of my savior. It’s how a Christian is “supposed” to feel, is it not? But that is not how it works.

Everyday, somedays more than others, I must SEEK Christ and His joy. I must look for the blessings, the beauty. I have days when nothing feels manageable; I fight all day with insurance and get nowhere; my second child is diagnosed; I watch my kids fall again and again; the bills pile up.

I can’t breathe.

On these days, in these moments, I must FORCE myself to seek Him. Force myself to breathe when the sobs suffocate me. Force myself to see His provisions, to thank Him, to trust Him, even when I am certain I cannot take another moment. Knowledge of Him is like my oxygen mask, sustaining me when I cannot take a breath on my own.

This journey is not linear. It is a ring of highs and lows. Somedays, our life is a normal rhythm. I breath deeply. I breathe in the scent of my babies’ freshly washed hair and exhale gratitude for even one day with my children. My teen tells me how greatly she loves me and I breathe it in as I would breathe in the scent of spring flowers. But other days, I have to remind myself to breathe. Remind myself that I I need only make it through the next breath. Remind myself to slow down my gasps and breath deeply…one breath…just one breath…I can breathe…one breath at a time. #FriedreichsAtaxia #rareDisease #Parenting

If you ever wonder how to pronounce #FriedreichsAtaxia , just remember “free drinks and taxi rides.” 😉