Dear fellow traveler, it has been a while since I have last posted. And it may be a while before I resume posting again. I am on experimental therapy for a genetic degenerative disease. I remain hopeful that I will be able to resume. Until then, please follow me on social media. BIG hug to you from me!
I was not able to record my podcast episode for In Rare Company, because this topic is urgent and my voice and energy are too limited due to my illness at the moment. I wrote the script below and a trusted voice will bring it to life on my behalf.
What do you think is important for people to know or understand about your condition? What’s the biggest misconception? How has your condition impacted your family?
I have a form of primary mitochondrial disease called primary mitochondrial myopathy. This affects the mitochondria—our cells’ energy producers—and leads to progressive, multisystem symptoms: muscle weakness, autonomic dysfunction, breathing problems, fatiguability, and more, double vision.
I use a power wheelchair and a ventilator, but much of my disability is invisible. People don’t see e.g. the decreased stamina, swallowing problems, bowel and bladder dysfunction, or the sheer effort it takes to stay upright.
One of the biggest misconceptions is that mitochondrial disease is just about being tired—or that it only affects children. In reality, it can strike at any age and it touches every part of life.
My family has been deeply impacted. My college-aged son grew up with a mom whose body couldn’t always keep up, and my husband now also serves as my caregiver. But we’ve built a life anchored in connection, creativity, and resilience—shaped around what I can still do.
How long have you been on it? How did you find out about it and start treatment?
Shortly after my diagnosis, my doctor recommended enrollment in the third, expanded access arm of an elamipretide trial. Ethically, my doctor told me that I was too ill to risk being randomized to placebo. I started daily subcutaneous injections at home and have now been on the drug for over three years.
It took a few months to notice changes, but they were real and meaningful.
How do I begin. The story is obviously more protracted than this. But in short: I was steadily declining over 10+ years.
I pushed myself to keep working, eventually with accommodations, but everything else—relationships, basic functioning, even my health—fell apart. For years, I didn’t know why. I chalked it up to stress or deconditioning or my other conditions.
I needed more and more help with daily tasks. My stamina was declining constantly. Very slowly in the beginning, but in the end rapidly, when I even had trouble turning around in bed. Losing my voice forced me to stop working abruptly. As a last-ditch effort, I saw a rare disease specialist, who diagnosed me with primary mitochondrial disease. It was a huge relief—not because I wanted to be sick, but because I finally had an explanation. I wasn’t crazy. I could be believed. And I could access disability and treatment.
The improvements are subtle—but hugely meaningful. My body simply started failing or crashing less often. I could sit upright longer. Breathe more easily. I could regain some independence.
These changes built gradually. And the effect is short-lasting. When I had to stop treatment for just a week, the decline was immediate. Restarting helped—but it took time to recover.
I don’t have Barth syndrome which is also a mitochondrial disease—but if the FDA doesn’t grant full approval for Barth syndrome with broad labeling, access to elamipretide will end for everyone. That includes me. Even though clinical trials for primary mitochondrial myopathy and other diseases are underway, it will be too late to save the company that produces it.
If I lose access, I expect a rapid decline—across nearly all bodily systems. My caregiving needs will increase drastically. I’ll lose my ability to advocate, to participate in family life, and to care for myself.
This isn’t just about not feeling well. It’s about losing the gains I’ve made and falling back into a fragile state that endangers my quality of life, safety, dignity and most of all survival.
I believe the FDA is trying to apply traditional drug review standards to a disease that doesn’t fit traditional models. Mitochondrial disease is complex, variable, and ultra-rare. Large placebo-controlled trials are often unethical or impossible.
While my KevinMD article simplified things, the whole story is more complex.
First of all, let me tell you about the Orphan Drug Act which was designed for complex and rare situations exactly like this. And elamipretide received the orphan drug designation for Barth syndrome in 2018. This act not only provides financial and regulatory support to companies working in rare diseases. It also allows the FDA to use a more flexible framework—to consider not just strict trial endpoints, but also extension studies, natural history data comparison, real world expanded access results, case reports as well as case series, patient testimonials, and real-world outcomes.
Now back to elamipretide’s timeline. The FDA refused to file elamipretide’s first New Drug Application (NDA) submission in 2021 due to lack of effectiveness. A second NDA that included much more of the multiple orphan drug act endpoints that I just described was submitted in January 2024 under the traditional approval pathway. The FDA’s own advisory committee voted to recommend approval in October 2024. However, in May 2025, the FDA issued a Complete Response Letter (CRL) denying elamipretide’s second NDA. Instead, the agency suggested submitting a third NDA and this time through the accelerated approval pathway. The drug company has submitted a request for reconsideration, which the FDA is expected to decide on in early Aug 2025.
This denial decision was especially unexpected given that relevant parties such as drug sponsors and the FDA typically meet regularly throughout the drug development process to align on study design, endpoints, and regulatory expectations—steps intended to increase the likelihood of a successful NDA submission when the time comes. Furthermore, in the vast majority of cases, the FDA approves a drug following a positive FDA advisory committee meeting.
This raises so many questions a few of which are: Why does the FDA recommend a third NDA? And why was an accelerated pathway not pursued for the second NDA submission?
And despite being awarded the drug priority review status, why did the FDA withheld the benefits associated with that designation, resulting in large delays and loss of continuity over time.
No matter whether the FDA will reconsider their denial of elamipretide, this is a history-defining moment. If the FDA reconsiders and grants full approval, elamipretide will become the first approved drug for mitochondrial disease. If they don’t reconsider their denial of full approval and continue recommending a third NDA under the accelerated pathway, the consequences will be devastating for the rare disease community as a whole.
First of all, without insurance payments tied to full FDA approval, the company will not survive – they have already let go a third of their personnel. Access to elamipretide will end for those currently on it and future access will be delayed by years if not decennia, because accelerated is a misnomer since its a highly scrutinized process. Even if another larger company would be willing to take over the development of elamipretide, they would have to start over with a 3rd new drug application for elamipretide: recruit globally from an ultra-small pool of patients and navigate immense logistical and regulatory barriers.
Secondly, this isn’t just about one drug. This decision sends a chilling message to the entire rare disease community. If the FDA keeps moving the goalposts, who in their right mind will ever take on the financial and scientific risk of developing another drug for an ultra-rare disease?
The data are convincing, the FDA advisory committee recommended approval, and the Orphan Drug Act exists for exactly rare and complex diseases like Barth syndrome. The FDA may be worried about setting precedent or broader off-label use, but the risk of doing nothing—for this patient community and for rare disease innovation—is far greater. Fully approving elamipretide with broad labeling wouldn’t just help me—it would signal that the system can work for patients like us.
You’re not alone. A diagnosis like this can feel isolating, especially when people don’t understand it. But there’s a community of patients, caregivers, and clinicians who walk this path.
And believe it or not, many of us felt relief when we were diagnosed. Not because we wanted to be sick—but because we finally knew we weren’t imagining it. We weren’t lazy. There was a name. And a path forward.
Give yourself time to grieve and adjust. Then build your support system—medical, emotional, and practical. You deserve care in all areas of life.
And most of all, know this: it’s okay to live slowly. To live differently. Your value isn’t in your productivity. It’s in how you show up, how you stay present, and how you continue—on your terms. Be kind to yourself.
The community gives me hope—who are raising their voices with courage and clarity.
The science gives me hope. We’ve come so far in understanding diseases that were once complete mysteries.
And advocacy gives me hope. When people speak out—especially together—systems do begin to shift.
And honestly, the fact that I’ve experienced real benefit from elamipretide gives me hope. That benefit is not hypothetical. It’s lived. And if it’s true for me, it could be true for others too.
Please share the message. Write to your lawmakers. Ask the FDA to reconsider. Use the hashtag #ApproveElamipretide. Every voice helps build momentum.
You can read and share this post and/or my story on KevinMD, and follow me at CancerSurvivorMD.org and @CancerSurvivorMD.
And if you work in healthcare, research, or policy—please don’t overlook the ultra-rare. Our numbers may be small, but our lives are not. And what we learn from rare disease can improve medicine for everyone.
I’m writing today with an urgent request that could change lives—including mine.
The FDA is currently considering approval of a treatment called Elamipretide, which has helped stabilize key functions for people living with primary mitochondrial disease—a rare, progressive, and often devastating condition. I’ve personally benefited from this treatment, which has helped me remain more independent, contribute to my family, and avoid costlier, more intensive care.
But despite a positive recommendation from the FDA’s own advisory committee, the agency has not yet approved Elamipretide. This delay puts vital progress—and people—at risk.
If you want to understand the stakes, I’ve written more here:
👉 Read my KevinMD article
If you’re unfamiliar with terms like mitochondrial disease, orphan drug, or FDA advisory committee, I explain them briefly here:
👉 What These Terms Mean
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Here’s how you can help:
➡️ Visit the FDA’s feedback page:
https://www.fda.gov/news-events/interactive-and-social-media/fda-direct-ask-question
Then follow these simple steps:
1. Under “Topic,” select “Drugs and Biologics”
2. Under “I am a,” choose the category that best describes you (e.g., Patient, Caregiver, Advocate, Concerned Citizen)
3. In the message box (250 characters), paste this message:
Please approve Elamipretide for primary mitochondrial disease. The FDA advisory committee recommended it. As an orphan drug, this treatment deserves wise and timely action. Patients can’t afford more delays. #ApproveElamipretide
Your message goes straight to the FDA. It takes less than a minute—and it matters more than you know.
Thank you from the bottom of my heart.
Elamipretide, a lifeline for patients with (ultra-)rare mitochondrial diseases like Barth syndrome and primary mitochondrial myopathy, faces a critical moment. Despite years of research, lived improvements, and community advocacy, the path to approval is uncertain. The FDA will make a pivotal decision in early August. I am one of the patients currently on Elamipretide, and I know firsthand the difference it makes. We need your voice.
Please share this urgently. Post it, email it, talk about it. Please use the following hashtags BarthProgress #ApproveElamipretide #BarthSyndrome #RareDisease #FDAActNow #HopeforProgress
The window to act is closing—let’s make sure the FDA hears the real stories and sees the real lives at stake. This goes beyond Elamipretide—it’s about ensuring fair access and consideration for all treatments targeting ultra-rare and rare diseases.
We are asking the U.S. Food and Drug Administration to reconsider its denial of elamipretide and grant full, traditional approval—the first ever for primary mitochondrial disease. Doing so would honor the advisory committee’s recommendation, uphold the standard NDA pathway the FDA itself selected, and fulfill the intent of the Orphan Drug Act. We also urge the FDA to approve the drug with broad labeling, so that all appropriate patients—not just a narrow trial subset—can access a therapy that has demonstrated meaningful benefit. No more delays. No more deferrals. No more circular barriers. This is not just about one drug—it’s about whether we are willing to meaningfully advance treatment for (ultra) rare diseases at all. https://kevinmd.com/2025/07/fda-delays-could-end-vital-treatment-for-rare-disease-patients.html
Recently, a survivor asked me “who or what to get angry at” when we are diagnosed with cancer? And I think there is a lot encompassed in this fascinating question. It caught me off guard for a minute. I have had a few days to think about it and here is my first attempt. I welcome your views!
Is the question “who/what do we get angry with” the same question as “who/what to blame”? Blame to me refers to causality and responsbility. In general, I think no blame is to be had as there is still a lot unknown about our body, “the black box”. With the exception of some exposures that are known to increase cancer risk (e.g. asbestos, nicotine, HPV), I do not believe that blame can be assigned at current time and age.
But back to the question – “who/what do we get angry with”? To me this question refers to “where do we target our anger at”? The question implies that anger is like a “hot potato” that has to be gotten rid of as soon as possible before we “burn our fingers”. It may be acted out and projected onto targets with whom we feel safe (e.g. our loved ones) or anonymous (e.g. strangers or objects). We may spend a lot of time and energy on suppressing or numbing our anger (with exercise, alcohol etc). Many of these approaches are unhealthy, not safe, or even destructive: they may make us angry that we are angry, perpetuating our anger only more.
But what if we look at anger differently? What if we view anger as a sign that nudges us to pause and reflect on what we are dissatisfied with or what is bothering us? Anger is a normal emotion to have and represents a validated stage of the grieving process, which many cancer survivors may go through as they “try to find the new normal” in the aftermath of cancer diagnosis and therapies.
It starts by recognizing that you are angry – this acknowledgment itself may already be cathartic, validating, and healing. Sometimes the “working through” your anger is quick and easy – but sometimes it may be more painful and challenging, requiring honest self-reflection and support from our loved ones and perhaps even a professional. All we can do is our best.
If we think and feel our way through our anger, then our anger may become less intense or even disappear. The freed up energy can instead be redirected to unstuck ourselves and proceed to the 6th grief stage: finding meaning and purpose. Pursuing new adventures and making new memories. You are more than a (permanent) reaction to your cancer diagnosis – it does not need to define you – you can rise above it and transcend it – in your own unique way – at your time and pace. My wish is that you treat yourself the same way as you treat others…..with more compassion, kindness, respect, and forgiveness.
