Inspiration

Time is Running Out: Help Secure Access to Elamipretide for Ultra-Rare and Rare Diseases

Time is Running Out: Help Secure Access to Elamipretide for Ultra-Rare and Rare Diseases

A group of four individuals, including a patient in a wheelchair, smile together in a brightly colored medical office. They are discussing Elamipretide, a treatment for rare mitochondrial diseases.
Together with my amazing health care team https://www.chp.edu/our-services/rare-disease-therapy

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

Cancer Survivors Wonder “What or Who Do I Get Angry At”?

Dr. Josie’s Attempt to Look “Angry” – How Did I Do? 😊

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. 

Cancer and New Years Resolutions

Cancer and New Years Resolutions

New Year’s Resolutions. I am sure many of us are getting ready to make ours, even if just to be ready when we’re asked about them. But for whom are we making these resolutions – for others or ourselves? 

Almost everyone seems to make them. Keeping them is harder. Maybe we put the bar too high or maybe the problem is that we’re creatures of habit. Many resolutions aim to deprive us of something (e.g. food) or do more of something we don’t enjoy (e.g. exercise). If we don’t follow through on them we can feel like failures and lose trust in our ability to accomplish change, often resulting in disillusionment. 

I wonder why we make them. I guess the reasoning behind it may differ from person to person. In general, they give us meaningful goals to work towards and perhaps a deadline to hold us accountable. The anticipation of them gives us hope for a bigger, better, healthier life. This annual inventory-taking may allow us to feel that we’re keeping an eye on the big picture so that we don’t stray too far and become too loose and free. Perhaps the attraction is that they give us a sense of belonging to a group of people who are also working on the common goal of bettering themselves. 

It’s probably clear that I’m not a big proponent of these resolutions, but it’s hard to escape them. Perhaps we can approach them differently this year. After all, even if you decide to be nicer to yourself, then you have made a resolution. Or if you decide to not make resolutions, then you have made a resolution, too. 

There’s a fine line between accepting who you are and trying to improve on yourself. If and when you make your News Year’s resolutions this year, I encourage you to take some time to give yourself credit for how far you’ve come in terms of your emotional well-being, health and functional status, social interactions, spiritual/religious growth, and financial or vocational goals. Taking stock of your progress instead of simply focusing on ways you want to change may allow you to like yourself ‘just the way you are’, as Mr. Rogers would say!