Note: This piece has been entered in the Patients Have Power Writing Contest run by Clara Health designed to raise awareness about clinical trials. I am passionate about this cause and hope it will help raise much needed awareness about the power of breakthrough research.
About three years ago, I read a news article that I thought had changed my life. A new gene therapy clinical trial was being developed for my disease, Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). I was on cloud nine. For the first time since I started experiencing muscle weakness in 2008, I felt like there was a cure on the horizon.
Reality soon set in.
Two years later, I checked in on the progress of the clinical trial – a pilot Phase 1 trial – and saw that it was still struggling to meet its recruitment goal of three patients, even though it had been open for almost a year. I groaned. I sighed. I welled up with frustration. What had once seemed like a surefire path to a cure now seemed elusive, yet another false hope on my patient journey. Reality had sunk in – this drug discovery stuff is hard.
I have some exciting news! I am happy to announce that I am raising money for an award at Northeastern University, my alma mater, called the Ralph and Theresa Anselmo Resilience Award, named after my parents. The award – which may end up being two awards when all is said and done – will be given to a sophomore, middler or junior-year student registered with Northeastern’s Disability Resource Center (DRC).
You can find a link to the GoFundMe page here. Any contribution is greatly appreciated! Even if you are unable to donate, sharing the link with your family and friends would mean the world to me.
I can go from months where I don’t notice any change in my strength to days where it feels like I am weakening by the hour. Over the last couple months, another wave of weakness has infiltrated my muscles, right as I was starting to adjust to my new level of strength. I can track my decline based on the everyday activities I perform, and whether or not they are harder to do than the day before.
Lately, getting out of bed with my walker has become a chore. It requires all the upper body strength I can muster, which is not much these days. My biceps have just about shriveled away, following the lead of my triceps which dissipated a couple years back. My chest and abdominal muscles, once muscular (I’m not talking beach body, but I used to be in shape!) have been replaced by fat. I press with all my might to get up, and although I am still able to stand upright, I worry in the back of my mind about the next time. What if my arms give out or I throw out my back? It’s a long way to the floor.
There are different pieces of equipment out there to aid in the transfer and lifting process, equipment that I am going to need to entertain at some point. I also have my dad who can help me, but I can’t rely on him forever – he is going to be 70 in September and has back issues of his own. Unfortunately, every time I go through weakening fits like this, I procrastinate on getting new equipment. It is a bug in my program.
Today is one of my favorite days of the year: Rare Disease Day. Held annually on the last day of February, it is a day to celebrate those living with rare diseases, and also to raise awareness for the many different types of rare diseases that exist in the world. And there are many.
I consider it to be one of my favorite days, not because I enjoy having a rare disease (let’s be serious!) but because it brings out all the wonderful feelings that make life so meaningful – love, community, passion – just to name a few. What you won’t find, however, is pity – just the opposite, in fact. Rare disease patients don’t want you to feel sorry for them, just to understand what it’s like to walk a mile in their shoes.
This is a continuation of my post from earlier in the week, which you can find here.
In Malcolm Gladwell’s famous book, Outliers, he talks about several factors that set high-achievers apart from the rest of the population. One of the main takeaways of the book is something called the “10,000 Hour Rule” – basically, anyone who has ever become an expert at anything has needed to immerse themselves in a task for at least 10,000 hours. This holds whether you’re the Beatles practicing to become the greatest band of all time, or Bill Gates learning to program a computer.
Although the premise has been the subject of intense debate, what is beyond argument is that the more you practice or experience something, the more of an expert you become. It’s rather straightforward.
Assuming the 10,000 hour rule is mostly true, I boldly assert that I am an expert at being a patient with muscular dystrophy. It’s an odd thing to say, but ever since it took over my life ten years ago, it’s always been on my mind. It has changed me physically, emotionally and spiritually. Many of my experiences cannot be adequately explained to the general population, no matter how much someone wants to understand.
My life seems to be moving in fits and starts these days. Two steps forward, one step back.
If you have been following my journey for any length of time, you know this is nothing new for me. It comes with the territory of living with an adult-onset muscle disease. Pick your favorite metaphor – life with this disease is a roller coaster, a series of peaks and valleys, a twisting and turning road. Left, right, up, down – the path is never straight or level. The lack of continuity is often maddening, and always frustrating.
I’ve learned how to keep a level head through it all, but sometimes, life can be too much. Sometimes, no matter how hard I fight, I have to admit defeat. Not a lost war, but a lost battle.
The other day, as I was typing away on my laptop, trying to write a chapter in my book, the “F” key detached for what must have been the hundredth time. Somehow, the underlying pins broke off about a month ago, and, rather than spend $300 to have the entire keyboard replaced, I have been toughing it out ever since.
Enraged, I was tempted to take the key and throw it across the room, but knew that if I did that, the key would win, and I would have to avoid any words containing “F” for the rest of the book. Try to write a paragraph without the words “of”, “if”, “for”, or “from”. It’s not gonna happen.
I want to wish everyone a happy and healthy New Year! 2017 was interesting to say the least. May 2018 bring you joy, happiness, and a whole lot of laughter. (And more eaglets.)
Personally, 2017 has been an up and down year, although I’m sure everyone else can say the same. Like any year, there were exhilarating highs and frustrating lows. (Case in point, my “F” key is broken and I’m trying to avoid any words containing the letter “F”, but I’m failing in fantastic fashion.) Overall though, I can’t complain. I made it through another year. I still have my family, my friends, and my health, and I’m still walking on my two feet.
The quivering voice of Carly’s mother, Irene, echoed loudly in my head.
It was November 2014, and I had just finished giving a speech to my classmates in the Boston College MBA program. The topic of my TED-style talk was my transition from ability to disability over the previous eight years of my life. Classmates were coming up to congratulate me on a job well done, yet I couldn’t shake the fact that, when speaking about my friend Carly and the impact she had on my life, I had forgotten key details of our time together.
Ever since I started business school three months earlier, I had longed for an opportunity to tell my new group of friends about my journey living with Miyoshi Myopathy, a form of muscular dystrophy that had turned my life upside down. I wanted to answer the questions they never asked me, but knew they had. More than anything, I wanted them to know that I was not always disabled, and that I was not ashamed of the person I had become.
In the rehearsals leading up to my talk, I barely mentioned Carly in my story, for fear that I would run over my time allotment. However, in the heat of the moment, in front of an audience of sixty classmates and professors, I realized that I couldn’t tell my story – especially the part about how I was able to turn my life around – without mentioning Carly. To leave her out would be an injustice.
Before I knew it, I was gushing about her bravery and how her cancer battle inspired me to reexamine my attitude toward my own disease. I knew I succeeded in conveying how she made me feel, which at the end of the day is what was important to share. But when it came time to talk about her joyful personality and the many laughs we shared, I blanked on specifics.
I realized that some of the details of our friendship – actual events that took place and conversations we had before she got sick – were starting to fade from my memory. I felt guilty, as if I had abandoned a friend.
So it turns out I may have jumped the gun a bit on my last post.
About a minute after hitting publish, I realized that I had forgotten a few recent news items, including, oh, I don’t know, a fundraiser that I helped organize for the last six months. My 31-year old mind is not what it used to be. But I can still name the 50 states and all the presidents, so at least I’ve got that going for me.
Since this is my own site and I answer only to myself, I can undo my omissions with a simple follow-up post.
First and foremost on my list of forgotten updates – the rousing success of the 4th annual Strength, Science and Stories of Inspiration fundraiser!
For those of you who are not familiar with the event, SSSI (as we call it for short) is a fundraiser that aims to bring together stakeholders in the Boston-area muscle disease community for a night of entertainment, storytelling and networking. It was started in 2013 by my co-organizers, Sharif Tabebordbar, Albert Almada and Eric Wang, muscle disease researchers who each have a family member with muscular dystrophy.
This year’s event was the third SSSI I have had the privilege of helping to co-organize, and it was our biggest crowd yet – close to 600 attendees! The night was chock-full of laughter and emotion, and built on (or is it upon? I can never figure it out) the success of our previous events.
We had two great patient speakers, Rob Besecker and Monkol Lek, and for the second year in a row our headliner was talented comedian, friend, and ALS family member Max Amini. In addition to our entertainment, we also awarded our very first research fellowship to Maya Maor Nof, a talented postdoctoral researcher at Stanford University. This fellowship has been a dream of ours for several years, so to see it come to fruition was both exciting and emotional.
Overall, it was an exhilarating night, one that I recapped in an article for the Muscular Dystrophy Association (MDA) a couple weeks back.
We announced at the event that we are raising money for next year’s fellowship, so if you’d like to contribute, we are still taking donations! Here’s the link: https://www.gofundme.com/sssi2017
My second update pertains to another MDA article. I was recently interviewed in MDA’s quarterly magazine, Quest, about searching for a summer internship while living with a disability. It’s a topic that I know very well, having dealt with it two years ago. I’ve talked to other patients with MD who have wondered if they could realistically go back to school. I wanted to share my story about my journey so that I could help others believe in themselves that yes, it is possible. School, internship, all of it.
It will require some extra planning, and it won’t be smooth sailing, but it can absolutely be done. In my internship experience, I relocated from Boston to New York City for a summer. Part of the reason I try to push myself is so that later on, I can use the knowledge gained to empower others to do the same thing. So many others have helped me in the same way.
And for my last update – also involving MDA (as you probably can tell by now advocacy is a major part of my life) – I was a last-minute keynote speaker on October 7th!
It was a financial summit sponsored by MDA which took place at the Marriott hotel in Quincy, Massachusetts. The aim of the event was to provide financial advice and planning for MDA families, as this disease can be a burden on a family’s finances. Originally, the MDA national goodwill ambassador, Joe Akmakjian, was supposed to be the keynote, however he got sick and was unable to attend. I was asked Thursday afternoon, and a day and a half later, I found myself in front of a room full of MDA families.
It was a whirlwind day to say the least. Overall, it was an interesting experience – I was told I could just talk about my patient story, but it was a financial summit, so I knew I had to twist my usual story a little bit and talk finances, and how I was able to budget out for things like adaptive equipment and business school.
Although it was last-minute, I was glad to impart some financial wisdom on the crowd, and I know my dad was proud, since after all, he was the one who imparted the wisdom on me in the first place. Without my dad, I don’t know if I would have had the same financial discipline. Well, maybe I would have, but it would have taken much longer to learn.
When I got home Saturday night, I was whipped. The fatigue lasted a couple days, into Tuesday. It was only a week after the Strength Science fundraiser, which also left me tired for a few days. Believe it or not, it can be tiring sitting in a wheelchair all day!
All in all though, it’s been an eventful few months, fatigue aside. As long as I’m able to do all this (without impacting my day job of course), as long as my parents are willing to be my chauffeurs and caregivers, I will continue to stay active in the muscle disease community – writing, speaking, whatever it takes.
I don’t do well sitting still. I think you can tell by now.