#duchennemusculardystrophy

[diyentertainment]

Good day! Today is World Duchenne Awareness Day, and we wanted to share both resources and support if you need it. It doesn't matter how rare a condition or illness is: everybody deserves access to understanding and care!

[rahrahkaz]

A Reflection on a 2-week Leave

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.

7-12-25

[rahrahkaz]

The Real and Raw Truth To Motherhood

No one can possibly relay what being a mother is really like, until you are in it. Yes, people tell you how amazing it is and they may sprinkle in a few of the trials and tribulations along the way.  But, until the day of birth, it’s only conversations or words that we may or may not listen to and that we may or may not understand.

About 13 years ago, Dan and I had our first date at the Doolittles in Golden Valley after my golf lesson and talked and talked. We both had something each other needed to know before we decided if there was going to be a second date.

Dan had two little boys, AJ and Ben, who were about 7 and 8 years old at the time. He showed me pictures that melted my heart. He didn’t explicitly say this, but his point was, those kids were his life and if another person entered his life, it was imperative that person embraced those boys just the same.

I wanted kids. I was up for the task of step-mom, but I knew I wanted to also have kids of my own. For those of you that know me, it may not surprise you to know that I did say this very explicitly. If he wasn’t open to having more kids at some point, there didn’t need to be a second date.

But there was a second date, and many more after that. While integrating into AJ and Ben’s life seemed difficult at the time, I look back and have complete respect for Dan cautiously bringing me into their lives. Dan and I would golf or hang out or go on dates, but only on the days that he didn’t have the boys. I didn’t fully understand at the time because I didn’t have kids of my own, but now I get it. As a parent, you will do anything to protect your kids and if there wasn’t going to be Sarah around for the long term, there was not going to be the integration of Sarah and AJ and Ben.

Fast forward a few years and those two very precious boys, AJ and Ben, got to be a part of our wedding ceremony. I’m so lucky to be blessed with these two boys that gave me a sneak preview into motherhood.

Now recall that first date, I wanted kids of my own. But what no one tells you is that when you say you want to be a mom, you sign up for whatever comes with that. You sign up for trying with no success, you sign up miscarriages, you sign up for whatever child is born on the day of birth and you sign up for whatever that child may endure along their own life journey. There is no turning back.

But truth be told, motherhood looks completely different for me than I thought it would.

When we found out I was pregnant and it was a boy, we were ecstatic. I never went to birthing classes, I never had a birth plan, I never toured the hospital and never really did all the things I was told to do. All I remember is making a short list of the things I wanted when I was in the hospital, my bright pink Sarah robe and my bright green Lulu Lemon legwarmers…….and maybe a small bottle of champagne. Instead, I just relished the fact that I was growing a baby and I was going to be a mom. Having AJ and Ben around solidified the deal, those kids were amazing, and I knew I could do it, we could do it.

But my start to motherhood was nothing I had imagined. I imagined my water breaking at my house in the middle of the night. What I did not imagine is driving myself to the hospital because a feeling of my baby not moving turned into an emergency c-section. I imagined my husband driving me to the hospital, what I did not imagine is him at a golf event getting there right in time for the delivery. I imagined my baby being laid on my chest after delivery, what I did not imagine is my baby being whisked away because he was blue and needed to be intubated immediately. I imagined going home the next day, what I did not imagine is living in the hospital for 2 weeks and relying on family, friends, and services like the Ronald McDonald house to get us through the time in the NICU.

And then we got pregnant again, and we nearly fell off our chair, it was another boy.

I wanted at least one girl. I had conversations with myself that I would keep having kids until I had a girl. It was all I knew with having a sister and I knew I was already blessed with two amazing step-boys, AJ and Ben. I had visions of my little girl in gymnastics and following my footsteps as a cheerleader. I had visions that I would instill in her my love for running and watch her crush the 400m and the 4x400m. I would explain to her that it’s the best race to be good at, because no one else ever wants to run it! I had visions of her sharing my love for math and going into accounting or finance or actuary science. Well one might say I was a bit naïve.

Motherhood was hard. I have vivid memories of surviving a weekend when Dan was at the cabin and I was home with both kids. No one told me that it’s next to impossible to have an 18-month-old that moves/scoots, a newborn, and a mama that needs to pump every 4 hours (my babies did not like my boobs). But I did it, because moms are like superhumans. We take on more than we should and we are pretty damn good at all the things.

Caleb landed himself in the NICU when he was born because he had a heart condition called Wolff Parkinson White. It’s a condition that causes the heart to go into tachycardia at any given moment due to an extra electrical pathway. We managed that with medication but it wasn’t without difficulties. The medicine had to be administered every 8 hours, 10 am, 6 pm, 2 am. No matter how we revised the schedule, we were waking up in the middle of the night to administer meds. We did that for 4 years and got used to that. This minimized his episodes but we still found ourselves in the ED at least 2x/year when his heart rate would rise and nothing we did helped. I did not sign up for regular ED visits in motherhood, but the good news is the tachycardia always prioritized us so the Kasner Family never waited in the ED lobby (THE WORST) ……searching for the bright side here.

At about two years of age, Caleb was diagnosed with Cerebral Palsy. He missed milestones, his gait wasn’t typical and he was falling all the time. A few brain MRIs suggested (with hesitation) mild cerebral palsy. We were brought to our knees. This was not the motherhood I was talking about at that first date. My child has a disability that will cause him to have a physical impairment for life? What about running and hockey and all the athletic-related things I wanted him to do?  Oh well. I embraced the new normal with sadness but acceptance of this physical disability. At least I have a child. That’s what I wanted after all, right?

But 3/28/18 is Diagnosis-day (D-day) for us. This is the day that Caleb was diagnosed with Muscular Dystrophy. Nope, this is NOT what I signed up for with motherhood. A life limiting disease that will cause my child to lose the ability to walk, eat and ultimately breathe that will take his life in the upcoming years, could be 8 years, could be 20 years. Nope, no thanks. But I don’t want turn back…. I don’t think. I told you this would be real and raw.

Six weeks later, Dunky’s D-day. Oh hell no. For sure not what I signed up for. Brought me to my knees and I could not get up for days, maybe weeks. I stared at Dunky many times after Caleb was diagnosed, convinced he did not also have this disease, but looking back, I was clearly just hanging onto some normalcy. Clinging to what I have envisioned as a mother.

But the real and raw truth of motherhood is that you sign up for what you get, and it’s hard. It’s hard with typical kids, and one may argue even harder for kids with special needs. But it’s a true test of commitment and patience to be given the title of mother to watch kids suffer through a disease knowing you will likely have to lay them to rest for eternity before you.

I can’t say I wouldn’t change a thing, because I would take Duchenne away from my kids in a heartbeat, but I learned that being a mom to all of these boys has allowed me to view life from a different lens. It’s created purpose and meaning for me that I may not have found otherwise, no matter how hard it is.

So to all the mom’s out there, you are amazing. To the mom’s out there with kids with special needs, you are not alone. Let yourself grieve the mom life that you thought you would get to have, and then embrace the beauty that you have. And know, you are one strong human, and your kid(s) are so damn lucky to have you!

May 29, 2025

https://www.kasnerskickduchenne.org

[orthotv]

🔰Pediatric Orthopedics Active learning Session - 42

📚Topic : An Update: Orthopedic Management of Duchenne Muscular Dystrophy

🗓️Date & Time : 16th April 2024 Tuesday 8:00-9:00 pm IST

💻Click here to watch: http://tinyurl.com/OrthoTV-POALS-42

👨‍⚕️ Speaker : Dr Jason Howard Delaware, USA

🤝 OrthoTV Team: Dr Ashok Shyam, Dr Neeraj Bijlani

📺 Streaming Live on OrthoTV www.orthotvonline.com

👨‍💻 Join OrthoTV - https://linktr.ee/OrthoTV

[rahrahkaz]

Conclusion: We Can’t Do It All

Although I’m not completely fulfilling my 2023 goal of monthly blogs, I’m giving myself grace and not grief. This is a phrase that I have come to grow and love and accept, that I learned from my kids school, Our Lady of Peace a few years back. Mr. Paul Berry used these words as we navigated the COVID school years. It just works, doesn’t it? Give Grace, Not Grief. I have found this helpful as I encounter feelings of frustration daily. This ranges from watching my boys lose the ability to do things they could do the day before to countless fights with insurance to feeling unequipped to have two boys that will be wheelchair bound in the not-so-distant future (barring any life-altering treatments that they would need almost immediately).

However, I have found it equally helpful, if not more helpful, for me to apply it to myself. Duchenne has a way of pulling me in so many directions, and it’s so exhausting. I recall upon diagnosis about 5 years ago that I declared I would do ANYTHING to help my boys stay ambulatory and stay alive. I would move across the country, I would move to a different country, I would quit my job, I would sell everything I owned, I would advocate, I would prioritize them and what they need above my own needs, always. While some of that is still true, it’s also not practical as a human with a job, a husband, 2 other kids, a home I love, and family and friends that I adore and need to see. It’s also been so evident that unless I place some of my own needs above my boys, I will not be able to give them the love, support and physical assistance that they need. So here I am, 5 years later, giving myself grace, not grief for allowing myself to prioritize my own needs at times.

Where I have struggled the most is with the to do’s for the boys. It truly is a list that never ends and I’ve recently realized, I just can’t do it all. We, as a family, just can’t do it all. And so I’ve allowed myself to give us grace, and not grief. I’ll share some examples for those that may be able to relate.

 -  Caleb has headgear that he was instructed to wear nightly before getting his braces. Caleb didn’t like falling asleep with his headgear, so this required us to attempt to wake him up before we went to bed, trying to pry open his mouth, get rubber bands on what seemed like the smallest hooks in the world, while hoping he didn’t chomp down and then attaching this contraption to the front of his head. Then telling him to go back to sleep. I found myself stressed every night as this time approached or pushing out my bed time so that I wouldn’t have to execute the headgear routine. Nope! I’m not letting headgear add stress to my already stressful life. So we did it on our time. Some weeks it was every other night, other weeks it was not at all. Sometimes we negotiated with him that he needed either his nighttime braces (on his feet) or his headgear, and let him choose. Yes, this meant more weeks overall, but it eased stress for all involved.  Give grace, not grief.

 -   Nighttime braces are another pain point. Both boys are supposed to wear their nighttime braces every single night. While they tolerate them (mostly) they beg to have nights without them. So we have an agreed upon wear pattern for Caleb (right leg, both legs, none) that we felt like was a good compromise. Meanwhile Dunky, who has a mind of his own, will not go to sleep with them on at all. So I was to go in before I go to bed and try to put on his braces while he is sleeping. This is no easy task and I started to dread it and get more stressed as my bedtime became near. Nope! Not letting nighttime braces add stress to my already stressful life. So I found my own cadence. I do one foot each night and sometimes I allow myself to do none and that’s okay! Give grace, not grief.

 -   New medications are also a stressor. We were advised to start Caleb on growth hormone therapy nearly one year ago. I knew this would be an insurance fight that I just wasn’t ready to embark on as I was already fighting other medications with insurance. So I didn’t. Six months went by and during our check-in with endocrinology and asking about why we hadn’t yet started, I allowed myself grace instead of beating myself up. I simply said, “I didn’t have the time or energy to focus on it.” I NEVER would have imagined allowing myself to say that upon diagnosis. I would do everything promptly and as I was told, but the reality is I am human with so many demands and competing priorities, and sometimes I just get to choose. Give grace, not grief.

 -   Dunky struggles with his eyes. Ophthalmology is a specialty all Duchenne kiddos see as cataracts are yet another side effect of those lovely steroids. But Dunky has extra complexities as something called exotropia, meaning the outward drifting of his eyes. Unfortunately, he thinks he looks “stupid” in his glasses and refuses to wear them despite the truth that they are so flipping adorable. Watch out world because his next request was if he has pink glasses, he will wear them. I didn’t realize we were one year late for his next Ophthalmology appointment until an annual well visit reminded us his eyes are bad. In my defense (although I don’t need defense when I have grace), no one called me to schedule this appointment. Apparently, I’m just supposed to remember or be organized enough to know to schedule the appointment. Dunky will likely need surgery and of course we can’t get an appt until September. I started to beat myself up, but then I stopped and paused, and gave myself grace. Stay tuned for updates on next steps.

I must say embracing this phrase has been empowering for me. I’m not going to beat myself up over everything that I’m not doing. I’m going to celebrate all of the things that I am doing, both for myself and my family. It’s allowed me to recalibrate my priorities so that the most important things become the focus. The most important things are not nightly headgear or wearing nighttime braces on both feet, but it’s seeing the smiles in my boys faces when they make a request and I simply say “yes.”

On July 26th, Caleb will be going into surgery for a tendon transfer in his right foot in hopes he gets a bit more time on his feet before he is wheelchair bound. We are nervous but know that we have done all we can to weigh the options and have consulted with the best of the best. We feel so blessed to have our boys under the care of the best providers that are more than a clinical care team, they are a large part of our boys’ lives that we have grown to love over the years. We will keep you updated on the surgery and would welcome love and support during this time and the recovery after.

Duchenne is a beast. It is sad, terrifying, frustrating and exhausting, just to name a few. Everyday their needs get greater and I wonder how I will be able to continue to help them. Just recently I had someone say, “you still pick them up?”  Yes! I do, because I don’t have a choice! I tell my boys every single day, “I will always be here to help you, no matter what!”

July 7, 2023

[treebreadcares]

Double ABCX Model Of Caregiver Stressors And Perceived Resources

Background Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are recessive X-linked disorders characterized by progressive muscle weakness and ultimately cardiac and respiratory failure. Immediate family members are often primary caregivers of individuals with a dystrophinopathy. Methods We explored the impact of this role by inviting primary caregivers (n=209) of males diagnosed with childhood-onset dystrophinopathy who were identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to complete a mailed questionnaire measuring perceived social support and stress, spirituality, and family quality of life (FQoL). Bivariate and multivariate analyses examined associations between study variables using the Double ABCX model as an analytic framework. Results Higher stressor pile-up was associated with lower perceived social support (r=-0.29, p Read the full article

[stemcellcareindia]

Muscular dystrophies are a category of inherited and genetic muscle disorders characterized by skeletal muscle fatigue that worsens over time. The death of muscle cells and tissues is normally caused by a mutation or deficit in important muscle proteins. Any form of muscular dystrophy may affect cardiac and smooth muscle. 

For more details about #musculardystrophy contact

Website- https://www.stemcellcareindia.com/

Email id- [email protected]

Ph no- [phone]

#MesenchymalStemCellsformusculardystrophy #stemcellclinicinindiaformusculardystrophy #stemelltherapyinindiaformusculardystrophy #StemCellCareIndia

[growingbrain]

Duchenne Muscular Dystrophy Treatment in Vadodara

Duchenne Muscular Dystrophy (DMD) is a common inherited neuromuscular disorder that affects all races and ethnicities. 

DMD appears in young boys, usually between ages 2 and 5. It causes muscle loss that gets worse over time.

 Visit Dr. Smruti Patel to get the best treatment for Duchenne Muscular Dystrophy (DMD) or Muscular Weakness in kids in Vadodara, Gujarat. 

 For More information: 

 Visit Our Website: www.growingbrain.in 

 Call On:  0265 3514313 OR 9727816476 

 Email us: [email protected]