2B or not 2B?
I’ve been avoiding writing for quite some time. So much has changed, and I wasn’t sure where to start. My silence is largely due to my misdiagnosis, which was a result of a former doctor’s apathy and neglect. If you follow me on Instagram, this isn’t news. If not, you can find my post here. Rehashing it still ties my stomach in knots, so I’d rather just leave it at that. I was LGMD 2B, and I’m now LGMD 2L. It’s amazing the ruckus that one little letter can cause!
You’re probably thinking, “Amanda, it’s still LGMD. It’s just a different subtype. What’s the big deal?”
Well, I’ve spent the better part of my life immersed in research, studying every detail of LGMD 2B, and educating others (including my own doctors) about this subtype. I know all of its intricacies and nuances. I’ve closely followed every new development and advancement in its research. I’ve spent countless hours grieving over what this diagnosis might take from me and found comfort in friendships with others going through the same thing.
LGMD 2B wasn’t just something I had, it was part of who I was. For years.
And I don’t want to say any of that was wasted. It wasn’t. Everything I learned and shared about LGMD 2B shaped who I am today. But that time and energy should have been directed toward understanding my real diagnosis, LGMD 2L—a misstep that would have been avoided if my doctor had properly read my genetic report.
So after two months, I can finally get through the day without ruminating, and sleep without waking in anger. I can look in the mirror without feeling like a stranger, and talk about my disease without feeling like an imposter (most of the time). It’s been an ocean of emotions to swim in, but I’ve learned a lot about myself in the ways I coped.
Phase 1: Distraction
I realized I was throwing pity parties and disguising them as “feeling my feelings”. So, I started to allow and welcome distractions. And I leaned so heavily on my partner to help me with this. (I love you, Meechy!) Some people are all about therapy, but I avoided my therapist for weeks and dove into retail therapy instead. 🙃 When I wasn’t shopping, I buried myself in work, art, or sleeping—anything to keep my mind off the misdiagnosis.
Phase 2: Reflection
After a lot of reflection, I realized I’d always used my diagnosis to validate what I felt. So, when that diagnosis changed, I suddenly felt like my symptoms and struggles weren’t real. I was fake. I was an imposter. Over the last two months, I’ve had to reevaluate how I view my disease and my body. Whether it’s LGMD 2B, 2L, or 2MNOP, my muscles are still atrophying. My MRIs are still accurate. The fatigue after a flight of stairs is still the same. The flare-ups still occur. I’m still me and my struggle is still mine.
Phase 3: Acceptance
Once I started to accept my new diagnosis, I looked for silver linings. I leaned into the unknown, learned all I could about LGMD 2L, joined Facebook groups, read studies, and updated my medical teams. I did what I needed to move forward.
Phase 4: Taking Action
I found a new doctor immediately— and a good one at that. He’s a short plane flight away, but well worth the trip. He prioritizes me and understands the complexities and unknowns of my rare disease. He’s diagnosed me as an atypical and more progressed case of LGMD 2L, and he’s kindly taken me on as a patient to figure out why. I’ll be flying down to see him again in December.
Phase 5: Leaning In
I leaned into my community. I am on the committee for this year’s Muscular Dystrophy Association Gala and have spent countless hours reaching out to venues and local businesses, gathering auction items, making MD Awareness bracelets, and helping plan the event. The gala was sold out last night with twice as many guests as last year. We beat our goal and raised $840,000 for muscular dystrophy research. I was honored to speak and present my incredible PT specialist with an award. All of my friends and family showed up for me, and I’m still just swooning over the entire evening. It feels good to be part of something that’s making a difference. And it’s done a lot of good for my heart too. 💚
My misdiagnosis highlighted how fragile trust in our medical system can be. I’m one of the lucky ones— now with the right diagnosis and a strong medical team. But not everyone has the care or clarity they deserve, and that’s why we need to keep advocating for change. What began with a misplaced letter has fueled my drive for a future where rare diseases are met with understanding, not neglect.
While my story has evolved, the fight for better care and advocacy is far from over.
Be well,
Amanda
