Category: Stories & Interview
Hillside Montessori School Raises Money for Casey’s Cure
Interviews
March 22, 2022
I’ve started something new.
I’ve started a podcast.
I plan to interview patients, caretakers, patient advocates… anyone affected by muscular dystrophy.
I hope you’ll tune in and check them out.
We’re not on any podcast channels… yet.
But stay tuned… I’m sure we’ll get there.
After an event
After an event… Do you crash?
March 5, 2022,
Crashing after an event. I crash after an event. Do you crash after an event?
I’m just wondering, does anyone else ‘crash’ after an event?
I mean, I just organized an event for Rare Disease Day. It wasn’t even a fancy or complicated event. It was a matter of 3 weeks’ worth of work, filling out the right paperwork, ordering signs, scheduling postings on SM, and then showing up and hoping others would show up too.
It didn’t require months of work; not tons of money; just planning…
Rare Disease Day this year was on Monday, February 28. And somehow, despite the effort I exerted, which wasn’t anything exceptional, (at least not for me…) I was exhausted. I did manage to hit the email and check up on that on Tuesday, but by 2:00? My brain was ready to check out.
I’d decided that on Wednesday, I was going to get into cleaning up the flower gardens in front of my house. I haven’t quite gotten the whole ‘spring’ schedule thing down pat here; I moved to Georgia in June of 2019… which means that in June, I’ll have been here for 3 years… it’s so hard to believe I’ve been out of New Jersey for 3 years… It’s true, you can take a girl out of New Jersey but you can’t take the ‘Jersey’ out of the girl…
Anyway, Wednesday, I did hit the front garden..it was beautiful a day… and as overly enthusiastically as I take on everything I do, I ended up tearing up my back and spent I ended up ‘checking out’ for Thursday, and Friday… binging on whatever it was that I’d not seen… while sitting on a heating pad…
As I write this, I realize that I hadn’t really hit the couch for two days because of the event; I just hit the couch because I couldn’t bend over…
But the truth be told, I do tend to have a mental crash after an event. Does that happen to anyone else?
Being The Mom
By Chris Duane, Casey’s mom…
So often I want to write about how it feels to take on the project of finding a treatment and ultimately a cure for my daughter’s rare form of muscular dystrophy. But I also think that you may wonder about our goals; Where are we going? What is your donation money being used for? Why is it important to donate to our cause?
Hopefully, this blog post will be a start at answering some of those questions.
You may well ask, “What makes her disease subtype rare?” In the medical research field, diseases that have less than 2,000 cases (in the United States) are considered ‘ultra-rare’.
You may also ask, how exactly does that help or hinder our ultimate goals? I have come to learn that when the US has an insufficient population of a certain disease, finding funding for it can be super-challenging.
But I’ve also learned this year that the FDA doesn’t really like groups of less than, say, 2,000, to be studied because the impact of the research, even if remarkably successful, won’t help enough people to warrant the money and the work. (I wonder if they look at the cost benefit analysis of getting my daughter healthy as opposed to the outrageous cost it will take to keep her alive for as long as possible? And that the work may well yield information to help another rare disease?)
As you can imagine, belonging to a group that is deemed ‘insignificant’ doesn’t sit well with many people with rare diseases.
So at this point in this post, I would like to tell you about an organization I’m learning from that fosters relationships with legislators who can really make an impact in the rare disease world. It’s called The National Organization for Rare Diseases (pretty creative right?) https://rarediseases.org/rare-diseases/myopathy-myofibrillar/ This link will take you the page that has a LOT of medical information on it. But if you scroll toward the bottom, you’ll see a bit of information about HMERF (Hereditary Myopathy with Early Respiratory Failure), Casey’s subtype.
Also, another group, Every Life Foundation, sponsors Rare Disease Week on Capitol Hill . Casey’s Cure plans to attend these ‘meetings on the Hill’ in February, 2022, in order to put forth our support behind the HEART BILL, HR 1184. ( We attended virtually in 2021.)
This bill has a section in that could make a HUGE difference in the research opportunities for ultra-rare diseases like Casey’s. The text of this bill that is relevant to Casey’s Cure is the section that addresses examining and including research from the European Union. This is important because ultimately it will allow aggregation of small pockets of research that, when aggregated, would create a group large enough that would qualify for FDA studies/research/grants, etc. ( https://www.congress.gov/bill/117th-congress/house-bill/1184/text#H1C190F0C28FE4AC1AAD4AC6C37D71649 )
I intend to do a better job of keeping those interested abreast of our work throughout the coming months. Our hill is a steep one, but as long as there is hope, there is work to be done.
So very gratefully yours,
Chris
Alone…not Alone
Sometimes we can forget how important it is to be part of something; a sense of belonging to a group. With COVID being so in the forefront of everyone’s lives, a sense of community when we are forced to be isolated for self-preservation, has become more important than ever and ever harder to find.
Suffering (oh if you only knew how much I loathe that word) with a rare disease has left me feeling so isolated even when I am completely surrounded by my family and friends. It is a feeling like no other. To know that I stand in a group with so few people in the world (that I know of) that you can use all your fingers on one hand to count us all and still have 1 or 2 leftover is unfathomable. This is not the way I wanted to be one in a million!!
People ask me how I am doing from time to time. And I am never quite sure how to answer them. I know they mean well and are asking from the good place in their hearts. But can I tell them the truth? Or even should I tell them? How are they going to react if they knew exactly how I feel? Are they going to judge me for the things I can tell them?
So I answer them with the most generic phrases like “I am hanging in there” or something witty like “Doin’ the best I can!” (insert hand smacking my own forehead).
And then one day, I find myself scrolling through FB and see a fellow MD friend heading to a neurologist out of state and I curiously, yet sincerely, ask what makes the neurologist so special? I have yet to meet a neurologist who knew more about my condition than I did and who was honestly interested in helping me.
Side note – Now, don’t get me wrong, I see a local neurologist who I like. He helps with what he can and refers me to the correct specialists when need be. But like I said before, having a rare disease means that most medical professionals don’t know enough about me or my disease to help do more than manage my everyday symptoms. And I am grateful for his willingness to help in whatever way he can to make me be me for as long as I can.
Most of the specialists I have met did not give me the genuine feeling they were interested. And deep down I believe that they care, but they realized they really weren’t going to change my life and that there are other avenues more worthy of their time that can affect the most change. And even someone in my predicament in life can appreciate wanting to affect change on a grander scale, even if it stings a bit.
Now that that is out of the way, back to the FB story…
So, as the comments from the FB post continue, another MD friend comments saying that she and I need to chat. I agree and we set a time to talk. She lives in Pennsylvania and I, obviously, (insert another head smack) live in Georgia. One thing leads to another and we are not able to connect as she is feeling under the weather.
Squirrel!! That is something that I think most able-bodied people take for granted. Your energy levels are boundless. My disease wipes me out after going food shopping to the point of spending an hour or two on the couch to recover enough energy to cook dinner. And back on track… I hope…
We end up on the phone tonight, talking about things that I would never admit to saying out loud, outside of a small group of friends. I find myself laughing and feeling some tension rolling off me while I find an emotional connection to someone who understands; someone who just “gets it”. I don’t feel like I need to add the “just kidding” to the end of the sentence, because deep down, I am really not kidding. And she completely understands and there is zero judgement.
It’s like we speak a different language than they do. And yet despite the best translator apps our smart phones have, we just can’t seem to understand what the other is saying. But then, after what feels like an eternity, someone comes over and invites me into this room where everyone understands what I am saying!! No interpretation required!
I guess I didn’t realize how lonely I was feeling until she and I were on the phone. I didn’t know how much I needed to feel not alone. And I forgot how much a simple phone call with someone whom you have only met once, mind you, can make me feel so much better than I realized I needed.
.
We decided we should make this a monthly thing, maybe a video chat and a glass of wine, because life is heavy enough. And sometimes it’s just what the doctor ordered…
Thanks Jess…
Inclusion
I always want to be so politically correct and proper. I want to be motivating. Inspirational. Selfless. Encouraging. Supportive. And I work so hard to be that person daily. But to be completely honest, some days I just lack the capacity to be that way.
I believe that COVID is real. I believe that the consequences of COVID will continue to be uncovered. And let me say that I whole-heartedly believe that COVID has long lasting health effects that are unknown and being discovered daily. I guess that I just wish someone was looking that hard for me… for my rare disease will ultimately take my life, too.
And here’s the story that inspired this posting:
I was scrolling through social media and came across a post a friend had made. She was discussing and making bullet points of the hardships that she and her family has been experiencing while she has been recovering from COVID19.
All her statements were and remain valid.
She was discussing how she couldn’t keep a promise to her child to start an extracurricular activity; teach her child how to ride a bike; how there was no cure for her in sight and all of her emotional struggles are happening after 100+ days.
And all I could think while I am reading her post is…. You think 100+ days is bad! Try 4+ years!
No cure, no treatment options, Nothing!!! Only waiting and hoping that people will care enough to open their hearts and wallets to help me.
She is talking about grieving for her lost time in the last 100+ days and I am truly sorry for her.
I’m envious of the money her disease will garner… But where is the outpouring of support for people like me?
Where are their bleeding hearts for my children and their lost time with their mom?
Where is their compassion and empathy for my parents who are grieving for their lost time with their daughter?
I have already lost a parent to this disease and my children are going to watch me travel that same path and all I want is help to prevent that horrible, painful, experience of watching your parent waste away.
I don’t want them to watch me be bedridden, with machines breathing for me.
If every person in the United States gave 1 dollar each, scientists could find a cure for people like myself, potentially my children and grandchildren and so many others with rare Muscular Dystrophies!!!!
I just want to LIVE!! I don’t think that is such an unrealistic expectation to have.
Isn’t that all that my friend wants? To enjoy her life with her children as she was meant to? People suffering with the long-term side effects of COVID will have more scientists and research being done for them than I could ever hope for.
And understand, I do want them to have a cure! (I tend to have random movie scenes pop up in my head and at that moment… I picture Donkey jumping up and down saying Pick me! Pick Me! from the movie Shrek) I want them to have so many treatment choices that they know ultimately one will work for them.
But I, too, want that same chance; just need to be seen. Be heard. Be helped.
I want more than anything to be empathetic to so many non-MD people when it comes to their own experiences and hardships with their health.
If I can’t give people empathy when they are going through an emotionally taxing health problem, then how can I expect them to have empathy or compassion for my own health journey?
All my emotions really come down to wanting inclusion. And I can only hope that as people continue down these uncharted paths of COVID recovery, that they will begin to have an understanding of what so many of us in the rare and ultrarare disease community experience; and will continue to experience without their help and support.
At what point is my suffering, and others like me, enough to drive the larger community to support my search for a cure? And not just the people who know me personally?
Keeping The “A”
My mom has this phrase… “Anyone can get an A once, but keeping an A? That is hard work.” That is the best phrase I can think of to relate to maintaining a positive outlook.
I think being positive for a moment or an hour is easy; repeating some inspirational quote you read online that rings true. Or having a phrase on your phone as a reminder; having a quote of the day on your desk.
But let’s just call a spade a spade. Feeling positive from a quote is short-lived. But staying positive all the time? Hard… very hard. And somedays are much harder than others.
When it comes to having a chronic illness that has no treatment (yet), some days are so much more challenging than I expect. We have all had bad days or weeks or even months that overwhelm us with some feelings of hopelessness. But remaining positive when each day feels so different, yet so same, as the day before, well, that’s another matter.
I get through those days because I believe in embracing those feelings, whether positive or negative; no matter the cause. Have a pity party. Worry about tomorrow… Live in the pity party. Eat that tub of ice cream…binge-watch your favorite series. Stay in sweats for two days… whatever it takes.
But when the “balloons of your party” have fallen to the ground, the ice cream is gone, …. its’s time to get back up and try again. I remind myself that it’s about not giving up on the long haul. It’s about the bigger picture. I think of the people who give to the Foundation because they intuitively know that the unknown is always scary and fear can be paralyzing at times.
Truth be told, an unknown timeline with my disease gives my fighting spirit and confidence more than I bargained for. “Keeping the A” is so much harder than I ever thought it would be. I don’t believe I give myself an A everyday. Sometimes it’s a B- or a C+ because it’s all that I can muster.
But I can never allow my fear to outweigh my faith that the unknown timeline may hold positive outcomes. So I sketch my picture and never give up on “keeping my A”.
Double Edged Sword
With the end of summer here and the wonderful beginning of autumn, the season change brings many mixed emotions for me.
August is the month of my father’s birthday and also the anniversary of his death. I feel those days so intensely now that this disease has made its presence known in my own body.
What I wouldn’t give to have 1 day to sit beside him?
I am not sure that I would ask him about his disease or even what body part failed him first or what path it took… I think I would ask him what he would have done differently…. Tell him all the things that I could have used his guidance on.
Laugh with him.
You know sometimes, it’s the small things that really hit me the hardest; like I don’t know what my father’s laugh sounded like. He had spent so much time in the hospital and was trached (the hole in your throat) for most of my life and what time I spent with him, that he would slap his knee and kinda move back and forth in his chair to emphasize his laughter. (The reason his trach matters is physically speaking, he would have had to plug the hole with his finger to prevent the air from escaping through it in order for the air to move through his vocal cords to enable an actual sound of laughter).
But my husband and I chose to get married in the month of August because we thought we needed to add some positivity to the month. It was just too much sadness for one person to carry, so this past August we celebrated our 14th wedding anniversary.
September has always been fun for me as it has my birthday- woohoo!- and the seasons start to change. From the warm and humid to the cool and crisp accompanied by the colorful fall foliage just makes my soul feel at home.
However, since I was diagnosed, my birthday makes me wonder what the next year brings. What abilities will I have this time next year? Will I still walk without assistance? Get up from a chair without someone lifting me? Continue to work in a career that I have loved my entire life? Or will my body tell me I am just kidding myself? Will the memories we all think we have time to make only become one I can dream of? Will progress be made that can slow this disease? Will any answers have become clear? Any solutions or ideas?
And then I look at my children who keep me on my toes, both mentally and physically, and realize that they deserve a mom who will embrace life to the best of her ability, no matter what device gets me there. My husband deserves a wife who he can enjoy life with, no matter how many times he has to carry me to get there. My parents deserve a daughter who exemplifies the fighting- never give up- have your down days but dust your jeans off and get back up- spirit that they tirelessly fought to teach me. A sister who is going to grow old to tease my brother as siblings are supposed to. A friend who will smuggle your favorite alcoholic beverage into your nursing home so we can celebrate our 50 years of friendship.
So yes… it appears that with all things in life, no matter what you have going on, it seems like there is double edged sword ready… waiting around the corner.
Unless you choose to grab it by the handle.
Please Give Now
It’s hard for me to believe that September is just around the corner. It’s been such a strange time. You will all remember that at this time, our towns, cities, states, and country are battling the COVID-19 virus. The TVs are showing the lonely death stricken people face, strapped to respirators because their muscles just can’t do the work needed to keep the patient breathing on his/her own. All because a treatment or a cure hasn’t yet been found for this terrible disease. But there is hope, because so much money is being put toward finding one or both of those!
As I looked at those pictures, I was reminded of my ex-husband’s last years of life… and thinking about how that is how my Casey will end up: no treatments, no cures. And what’s worse, is that no one is even looking.
I asked Siri for some data on other forms of MD that you may be familiar with such as Duchenne’s (considered rare with 1/3,500 male births worldwide…0.0288%. You may have also heard of Limb-Girdle MD, that strikes between 1/14,500 to 1/123,000. In each case, Siri was able to find data on the National Organization of Rare Diseases website.
But when I asked Siri to find data on Hereditary Myopathy with Early Respiratory failure, information from NORD didn’t even show up on the registered rare disease site. In fact, the only page with any information was found on the NIH page, that I had them put up because it wasn’t listed there either.
Despite all the odds working against us, I continue to feel optimistic about raising the funds necessary to get the three researchers started on Casey’s Cure. I believe that the community will support her necessary research, because they’d want us to do if for one of their own.
Here’s a video I made, to help you see my point of view: https://vimeo.com/gpsstudios/review/451265392/9d213fbee2
Please give so my daughter can live.
