I took my final steps on May 11th, when I fell in my bathroom at home and had to be helped up by paramedics. To continue trying to walk was just too risky. Two months have passed since that day, and I have had a lot of time to think about what losing the ability to walk means for my life going forward.
I see my legs every day. I can still move my toes, bend my knees, and flex the flabby remnants of my calf muscles. I can still feel the pain of tense muscles, the ache of sore hips. I still get random itches on my feet that never seem to go away. My legs are still very much a part of my life, and I am thankful I still have them.
But in the task they were designed for, to get me from point A to point B, they don’t work. They are accessories, not workhorses.
When I took a break from my blog back in February to focus on my book, I said that I would still write a post from time to time. But I didn’t mean for it to take four months!
Well, I’m back. I hope you are all doing well and find yourselves returning to pre-COVID activities. This world is in desperate need of more in-person connections and conversations. Social media is its own form of isolation and is not an accurate representation of the real world. There’s nothing quite like talking to someone in-person and pretending to listen.
I am just completing a two-week vacation. It was a staycation, but relaxing nonetheless. I live five minutes from the ocean, and there is nothing as relaxing as seeing the waves rolling onto the beach and feeling the warm breeze off the water.
September 30th is International Limb-Girdle Muscular Dystrophy (LGMD) Awareness Day. It is a day to educate and bring attention to a group of similar conditions that affect the shoulders, hips, arms and legs. It is also a day to celebrate LGMD patients, their caregivers and family members.
I have LGMD type 2B, also known as dysferlinopathy and Miyoshi myopathy (actually there’s subtle differences between them, but for all intents and purposes, they lead to roughly the same outcome.) As of this writing, there are more than 30 subtypes of LGMD identified. They actually ran out of letters in the alphabet, so they are beginning to switch over the classifications to D1..2..3.. and R…1..2..3.. (D for dominant and R for recessive).
It is not the easiest disease in the world to live with. That is probably an understatement – it is quite difficult! You only have to look at my other blog posts to see what it’s been like to live with a weakening body. Yet, despite the difficulties, I have had the chance to meet others living with the various LGMDs and it has made all the difference in navigating the ups and downs of this condition. Many members of the community are my role models, and I try to be that to others. They are what make this day so special.
There are many resources to learn more about LGMD. The best aggregate resources are:
For me, The Jain Foundation has been a life-changing organization, as they are working on my particular condition and have been a valued resource along my disease journey.
If you have any questions about what it’s like to live with LGMD, or regarding any other LGMD topics, I’m always happy to connect!
A couple weeks ago, I experienced a milestone in my disease progression that I knew was coming, but I still wasn’t quite prepared for: I stopped walking.
Technically speaking, I stopped taking steps forward. I can still shuffle around while holding onto my dad, but for all intents and purposes, I have taken my final steps.
I hope you are enjoying summer and staying safe (or if you are in the Southern Hemisphere, enjoying winter). Even with COVID-19 wreaking havoc all over the globe, it is important to enjoy the little things when you can. For me, going outside is what keeps me sane. Not that it’s stopped me from talking to animals, but that’s another story.
A few quick housekeeping updates today. I just wanted to let you know that I’ve re-organized and added a few links to the right-hand side of the front page of this site. Some of the links no longer worked, so I’ve removed those as well.
Here are a few new links to highlight:
Optimize Yourself Podcast – I was honored to speak on Zack Arnold’s podcast in 2018 about my personal journey and to provide advice on dealing with adversity when life gets tough.
STAT News – On a whim one weekend in March, I wrote a letter to healthcare providers, during the height of the outbreak here in the northeast. My admiration for all healthcare workers, from doctors and nurses to janitors and front desk staff, remains just as strong as ever. The longer this goes on, the more we are going to need to support them once it’s all over.
I also have a couple of speaking engagements coming up this weekend, which is exciting. I always enjoy the opportunity to share my story. Although this is a small concern compared to everything else going on in the world, I really miss traveling to conferences. I miss speaking in front of live audiences. I miss meeting new people, seeing familiar faces, eating good meals, learning new things, and of course, the free swag.
This year, we were scheduled to go to Orlando, Cleveland, DC and Boston. And with the birth of my nephew last week (!), we would have gone down to North Carolina to see him. But unfortunately, that won’t be happening anytime soon.
2020 has made clear that life doesn’t always go the way we expect. Life often gets in the way of our hopes and ambitions, and we realize that everything we took for granted was fleeting all along. “When humans make plans, God laughs.”
But, life is all about how we respond to challenges. One such adjustment we have all had to make is transitioning to a virtual environment. Fortunately, several of these conferences are still taking place, and the panels I was scheduled to be on will be virtual instead. The only downside is I will have to wear a collared shirt and comb my hair. And maybe take a shower.
This weekend, assuming I can solve the challenge of looking like a real human being, I will be speaking on two panels. On Saturday, I will be participating on the Drug Discovery Roundtable at the MDA Engage LGMD Symposium, an online, one-day event focused on the latest research and clinical advances in Limb-Girdle Muscular Dystrophy. I am excited to share my perspective on how patients can participate in clinical research during this exciting time in LGMD drug development.
Then on Sunday, I will be participating on a panel for the NORD Living Rare Forum. This is the event that was originally going to be held in Cleveland this past May. I’m glad that the conference is still taking place, even in virtual form. NORD conferences are always a great time. The title of my panel is “Psychology of Rare: PTSD, Depression, Evaluation, Diagnosis and Therapy”, a heavy topic but one that is relevant to the rare disease community. It is a topic I know well, for better or worse, and I am confident that it will be a valuable discussion for all attendees.
All in all, I am keeping busy to the best of my ability. I am hoping and praying that we will soon be able to see one another safely again. In the meantime, please stay safe and healthy.
He listened for two minutes then scurried away. Even animals don’t want to hear about 2020.
For as long as I can remember, I have weighed somewhere between 155 and 160 pounds. I rarely checked my weight growing up, as it wasn’t a major concern. If anything, I was frail as a kid. The only reason I knew my weight was beacuse it was part of my annual physical exam.
In the last three years, however, I have slowed down considerably. I sit in my wheelchair all day and barely walk anymore. As a result, to put it nicely, there is more of me now than there was three years ago.
My body image doens’t really bother me. I am more preoccupied with my mobility than how I look. However, as one chin became two, it is undeniable that I’ve put on considerable weight. It is concerning. In the last three-plus years, I have put on 25 pounds. That is not ideal.
I was going to write an end-of-decade wrap-up last week. I was, I swear. Then I kept procrastinating, and procrastinating, and procrastinating, and next thing I know, it’s a new decade.
Oops.
I have to admit, I am not a big fan of contrived wrap-up posts. I tend to write only when inspired, which is on average about once per month. I don’t like to write just to write. But I had to at least acknowledge the conclusion of the 2010s. The decade was only about a third of my life, but for all intents and purposes, it was a lifetime.
At no point in the 2010s was I asymptomatic. It’s hard to wrap my mind around this fact, but I dealt with symptoms of my disease for the entire decade.
I can no longer remember what it was like to have full mobility, with no second thoughts about walking or running or climbing stairs. I don’t remember what it’s like to live spontaneously. So much has changed in just ten years: Continue reading “Crossroads”→
November was National Family Caregivers month. Which means, of course, that I waited until December to talk about it! But better late than never. It’s an important topic.
The premise of the month is to celebrate those who care for loved ones in need of daily help. The person may be aging, disabled, or some combination of the two.
It is so great that there is a month dedicated to caregivers. They are deserving of the recongition, as caregiving truly is a sacrifice of time, energy, and emotion. When you hear of someone living with a disease or disability, people often think of the person living it. But it has an impact on everyone, including friends and family. Especially family.
Three weeks ago (time flies!), I had the opportunity to attend the first-ever Limb-Girdle Muscular Dystrophy conference, which took place in Chicago over Labor Day weekend. Although everyone who attended the conference had to contend with the logistical challenges of traveling over a holiday weekend, it was well worth the frustration and hassle.
This was an opportunity too good to pass up.
The idea of having a conference for all limb-girdle patients, regardless of one’s subtype, is not a new one. There are Facebook groups with thousands of members where limb-girdle patients of all subtypes communicate with one another and share advice and experiences. Many are good friends, but have never had the chance to meet in person. Until this year, there has never been an opportunity to bring all these different patients together, under one roof, for any length of time.
I am happy to say that I am still making progress, albeit slowly. Working full-time only affords me limited energy at the end of the day to type coherent sentences, but it is progress nonetheless. In the beginning, I was keeping track of how many pages I had written. Although by now I’ve lost track, I am well over 300 at this point.
Instead of tracking page count, the way I measure my writing progress is by where I am in my story. Right now, I am in late 2012, right on the cusp of the most emotional two months of my life. January and February 2013 was a defining period that changed the trajectory of my life forever. Even now, it still elicits mixed emotions. The pain of loss. The frustration of dealing with a rapidly-weakening body. The nostalgia of living and working in Boston. The satisfaction of realizing just how much I’ve grown since that time. Continue reading “Between Then and Now”→
Sidewalks and Stairwells 