#endduchenne

Blessed

Exhausted

Rejuvenated

Scared

As I reflect on the last few weeks, those are the words that came to mind.

Blessed: I feel blessed that I was able to voice what I need and follow through with it. But it didn’t come without a few meltdowns to recognize I needed a reset.

The first was while I was at Nationwide Children’s Hospital in Columbus, Ohio with Dunky for doctor appointments. We flew in Monday for a Cardiac MRI on Tuesday and a full day of seeing all the specialists on Wednesday before flying home that night. On Monday night I got Dunky to bed in our hotel room and then slithered out of bed to work until late into the night, until my eyes wouldn’t stay open anymore. On Tuesday, I rushed back to the hotel after the Cardiac MRI to jump on a call with a client. I agreed to take Dunky to the zoo but could only fit it in between the emails I had to get out and the client call I had at 6 pm. We went, and it was fun, but it was rushed and I was preoccupied. How was I going to take my client call and make sure Dunky got dinner? I’ll figure it out, I always do, somehow. We were back at the hotel and I’m prepping for my client call and then the results started flooding in through My Chart. I was waiting for the results of the Cardiac MRI as the ejection fraction (EF) is the true indicator of heart failure and the MRI would give us this result. His baseline one year ago was 53%. In Duchenne, we pray for stability, typically not improvement. The results coming through were lab results that they took when they were doing the Cardiac MRI. Naturally, I started studying them, focusing on the red (abnormal) markers and quickly trying to determine if they were abnormal last time. Then pivoting to compare them to Caleb’s to understand if Dunky is worse off than his older brother in these areas. Wait, but what do these even mean? Do we care that they are abnormal? Troponin levels are abnormally high. I sure don’t remember seeing that before. Google. Quick. Before my meeting. F. The tears start streaming. The heart starts beating. Elevated troponin levels = heart damage. This isn’t really new news. I know that Dunky’s heart is ridden with Cardiomyopathy (scar tissue), in fact it takes up more than 50% of that cute little heart. But this was another way of confirming this and another reminder that this disease is running through my sweet, little, Dunky. Crap. My meeting. I wipe the tears, I set up Dunky with his iPad, tell him to not talk for an hour and log into Zoom. How will I get through this? I’ll figure it out, I always do, somehow.

But this doesn’t seem right. I want to cry to my husband, I want to call the Cardiologist, I want to work through my feelings and mostly, I want to focus on being present with Dunky But then I get through my meeting, those feelings get swept under the rug, and I carry on, until it happens again. Despite Dunky’s ask for sushi, we end up at hotel restaurant for dinner because now it’s past dinner time and closing in on bed time. I get Dunky to sleep and stay up late into the night again, but this time it’s to recap Dunky’s health from head to toe and list out all my questions in one big document that I send to his care team prior to our arrival the next day. Wish I would have prioritized this a few days ago so they would have time to digest it, but I didn’t.

Fast forward a few weeks, it happened again. I was heading to a work conference where I was going to be gone for 3 nights. I took the last flight out so I could help with the boys as much as possible because two wheelchair bound boys is no joke. This meant a very late arrival, and I knew I would be exhausted, but it’s what my mom heart wanted to do. But then I get to the gate and it’s delayed, and then delayed again. And the tears start flowing and don’t stop. How will I get through this? I’ll figure it out, I always do, somehow.

But that was the break-down that catapulted conversations. I was not impressed with myself and my decisions. I was prioritizing work over my own well-being and my boys. I feel blessed I was able to recognize my needs and take some action.

Exhausted: Caregiving is exhausting and being a special needs mom when you are home is also exhausting. It is constant asks, things that most kids that are 10 and 11 can do themselves, that Caleb and Dunky can not.

“Mom, I have to pee.”

“Mom, I have to poo.”

“Mom, I need a tissue.”

“Mom, I need my iPad.”

“Mom, I need a snack.”

“Mom, the remote fell.”

“Mom, sit me up.”

“Mom, scratch my head.”

“Mom, scratch my back.”

“Mom, fix my shirt.”

“Mom, I need a bandaid.”

“Mom, I need socks on.”

“Mom, I need a blanket on me.”

“Mom, brush my hair.” Okay, that’s a stretch. Fun fact, Dan is the hair guy. He would never let them leave the house without their hair brushed. He’s quick to spray and brush upon waking up. Me? I don’t think I’ve ever brushed their hair. I don’t even notice it. It’s like when I wonder how Dan doesn’t notice the socks in the middle of the floor, he wonders why I don’t notice the disaster of their unbrushed hair.

I love my kids, so deeply, but man is it exhausting to adhere to their needs.

Rejuvenated: My heart was so full by spending time with my boys. The joy I felt when they would ask, “do you have calls today?” and I got to say “no” was amazing. These boys fill my cup like nothing else can. And my life coach tells me when I fill my cup, I will be able to better support them and others. One day I was able to attend Vacation Bible Camp with them (they always need a bathroom helper) and I left it tears. It was so special and rejuvenating and I’m so glad for our Our Lady of Peace community. Caleb and Dunky help me realize that life is short, so it’s important to live to the fullest and live in the moment.

My favorite thing we do is go on walks. We walk to the coffee shop, to the beach, to Target and to many of our favorite local restaurants. And we are a scene. Two kids in power chairs, usually blasting Eminem, with a mom trying to keep up. We often get stared at with “under the breath” comments. Just today when Caleb and I were at Target I overheard someone say, “Look at that kid, why is he driving?” I heard it, but I didn’t know if Caleb did. Then I heard him respond, “Kid, I don’t like your attitude.” It was an odd response, but it was an odd comment. The more typical one we get is “Cool wheelchair, I wish I had that.” I’m positive you don’t wish you had that.

But we also get smiles, so many smiles. I’m rejuvenated by those smiles and that is what I’m going to take with me.

Scared: One amazing thing about not working for 2 weeks was the added time I got with the boys that I don’t usually have. Yes, I am blessed, exhausted and rejuvenated from that time, but I am equally scared. What I got to witness are small progressions of the disease that I don’t often see when I’m preoccupied with work. To name a few, I noticed:

Caleb has to lift his leg with his arm to get it on his wheelchair foot pedal.

Caleb has to use his fork so close to the tines that it’s almost a shovel.

Caleb asks for plastic silverware, that is lighter and easier to maneuver.

Caleb’s feet are naturally caving in. I’m constantly nagging him to straighten his foot.

Although Caleb is getting too heavy to lift, the muscles under his armpits make it next to impossible to lift him without equipment, even if I wanted to.

Although Dunky is still fairly easy to lift, the muscles under his armpits are also starting to go.

Dunky now needs to be sat up when he is laying in a reclined position.

Dunky’s heel cords are so tight that he can’t get even close to getting his feet flat.

I’m scared because this disease is taking them. I feel it and I see it. But I’m also scared that I’ll go back to work, like this leave never happened, and nothing will have changed. I’ll agree to do things I don’t want to do or don’t have time to do, I’ll prioritize work over my family and myself, I’ll chase the next promotion and I’ll fall back into the grind. And then I’ll look back when my kids are gone and think, “what the f was I doing?”

So I’m just not. I’m committed to being present and intentional. I will say no when I need to and look at it as a skill vs feeling guilty about potentially not pleasing someone. I will say yes to watching the most ridiculous You Tubers with my kids. I will say yes to the walk to Dairy Queen with my kids. I will say yes to playing Roblox with my kids. I will say yes to learning about all of their skins in Brawl Stars.

And I will continue to say yes to Duchenne advocacy efforts to help move the needle on this disease so that other parents don’t have to watch this disease run through their kids like I have to.

Yep, it’s true.  I, Sarah Kasner, am the one who gave Caleb & Duncan Duchenne Muscular Dystrophy.  I am the carrier, and I had no flipping idea.  Quick Genetics 101 lesson.  I am a female who has two X chromosomes, and one of my X chromosomes has a deletion of exons 6-17 in the dystrophin gene, unbeknownst to me.  I’m thankful I’m a woman, because my other X chromosome has stepped in to save the day.  When I conceived my children with my husband (I know, too much for social media), I passed along one of my two X chromosomes and Dan passed along either his X or his Y chromosome.  Upon conceiving both of our children, I passed along my mutated X chromosome (50/50 chance) and Dan passed along his Y chromosome (50/50 chance), making these children boy boys, with no back-up X chromosome.

Boys have one X and one Y chromosome.  If a boy has a mutated X chromosome, he does not have a back-up to step in and save the day like I have.  So those boys are forced to go through life with their mutated X chromosome.  Enter Duchenne Muscular Dystrophy in it’s truest and most severe form.  Enter Caleb & Duncan.

Caleb was diagnosed in April, 2018 and it never even occurred to me that he had this genetic disease because of me.  Spontaneous mutations are real and common.  But when Duncan was diagnosed, I knew I had no hope.  The chances of both of my boys having spontaneous mutated x chromosomes resulting in Duchenne, slim to none.  So here I am, the carrier of a fatal (to males) genetic disease that I had no idea I had. 

The questions that have gone through my head are insane, even though I would never want anything other than Caleb and Duncan in this world. I would NEVER change anything about my boys.  They are miracles and they are angels.  They are my saviors and my loves.  They are my night and shining armor that get me out of bed every single day.  And they make me thankful.  I gave a fatal disease to my two sons, but I’m still thankful, even though I'm saddened daily.

Because of me, these boys will have a life that is extraordinarily harder than everyone else around them.

Because of me, these boys may never play sports.

Because of me, these boys may never have kids.

Because of me, these boys may not outlive their mom and dad.

The list goes on and on, but all of that will just beat me down.

I’m thankful for these boys that may never play sports, have kids, outlive their parents and that are required to live a hard life just to survive.

Holidays are different now because we are fearful that our holidays won’t be what we want them to be in the future.  We let the sugar fairies enter and they eat more sugar than they should ever have.  We let them get a night off of bracing. We cherish the time we have together as a family.

So today I am thankful, for the family that I have. Dan, me, my step-boys (AJ & Ben), Caleb and Duncan. Isn't it better to have kids that will be with us for a period of time than none at all? No parent ever wants to think that way about their children, but that is our reality. But our family will continue to live in the moment and embrace the now.

Thank you for all that are allowing us to embrace the now and for supporting Kasners Kick Duchenne.  We couldn’t do this without you!

Celebrating birthdays for a child with Duchenne is bittersweet.  Caleb can’t wait to turn 5 tomorrow, October 28th.  He has been talking about it for months and he has this idea that you always get the same number of presents as the age you are.  He told me that Minnie is picking out 5 Lego sets for him. When I ask him if he wants an item for his birthday, he says “I already have 5 coming, maybe when I’m 6.”  He has memorized the birthdays of his classmates so that he knows the order of who comes next until it’s his birthday again.  He loves his birthday, the cake, the presents, the party, the attention and everything in between that comes with having a birthday. He says to me “So when I just wake up on Sunday, I get to be 5?” in disbelief.  I respond, “Yes baby, I can’t quite believe it either.”

I’ll let him eat more sugar than he should have and take a break from his braces. We will have a party and he will smile, laugh and show extraordinary amounts of joy. And we will smile and laugh with him, but deep down I feel so much pain because our time is too precious.  Parents, in particular mom’s, often talk about how sad it is to have their “babies” grow older.  But when your “baby” has a progressive muscle disease, the thought of your “baby” aging is real.  It’s not “I just don’t want them to grow up” but rather the opposite, “I just hope they get to grow up.”

We got to be the “lucky” ones the past year to talk about Caleb in the world of Duchenne because he is so young and mobile and relatively pain-free. But as the seconds, minutes, days, months pass, I cringe a little bit more each day.  I still stop and relish in the beauty of my boys and their happiness, but it feels like I have this crystal ball that shows me what their life is going to look like, but they know nothing about.  And each second, minute, day, month that passes, we are closer to what we have been told that life will look like. 

I want to freeze time and love the shit out of my “babies” until I go, not them.  But then I’m taken back to reality, I shake myself out of my dreams and pick up where I left off. I can do this, they can do this, we can do this. Happy Birthday Caleb, may your dreams come true. You deserve nothing less!