It’s Rare Disease Day — Which Is Problematic

It’s February 28, 2021 — 2/28 annually is “Rare Disease Day,” a day when people flood social media with graphics and hashtags like #RareDiseaseDay. I know of people who have truly rare diseases like a necrotic bone disease or epidermolysis bullosa. I know many, many more people through 16 years of online support groups who have seen a case of CJD in a loved one.

I both like and don’t like seeing awareness of CJD raised on this day every year.

There’s a caveat for many of us who aren’t feeling seen and heard on this day — those with familial mutations of CJD.

Yes, for those of you who lost someone to iatrogenic or sporadic CJD, it is a rare disease FOR YOU.

But for those of us who have lost multiple family members to CJD because our families carry one of the many genetic mutations of CJD, of fCJD, this day is a double-edged sword. Yes, awareness is (kinda) good (read to the end). But being force-fed “awareness” by calling CJD “rare” is bad.

CJD is NOT RARE.

There are three reasons for this, one I already mentioned, is that there’s no way something is “rare” when it happens over and over to a family.

The rest of my explanation as to why CJD isn’t rare is for you non-familial folks, more specifically, the sporadic cases. You can’t call something “rare” if you aren’t collecting enough data points. This has been a problem for the past 16 years I’ve been involved with this and it needs to change.

The first aspect to this three-fold problem is there isn’t an autopsy done on every single death by suspected CJD; CJD is only diagnosable to this day upon autopsy. (Unless something changed? Did I miss it? Did we manage to discover a clinical diagnosis yet?)

The second problem is, here in the U.S. at this time and for the past 16+ years, not every cow meant for human consumption has been tested for BSE.

And third, not every hunter opts to test their wild game for Chronic Wasting Disease (CWD) — as they should to ensure their safety — either.

So let’s recap:

When it comes to CJD autopsy, testing of cows for BSE, and testing of wild game for CWD — there isn’t enough autopsies or tests for prion disease being done to collect proper data in order to be able to call any and all prion disease “rare.” We have long suspected that if we did collect all this data, it may not be “rare” at all. (But your beef still will be — rimshot! Yes, there is still humor in prion world, or more accurately, my very bad jokes and sarcasm).

I’ve been doing this long enough that I don’t have hope that there ever will be proper testing done (in the U.S.) in order to collect data points. It should happen. It needs to happen. But I may not live to see it happen. Whether we are buying cow at the store or eating wild game we caught in the wilderness, we should be testing it. We aren’t testing because of cost and time. Families don’t obtain autopsies for a variety of personal reasons. Hunters just want to eat; they don’t want to wait on test results. (This is a very deadly risk to take but people take it because either they are hungry and have to eat or there’s just a disconnect about the seriousness of prion disease due to long incubation periods).

In lieu of having collected proper data, therefore, we cannot call prion disease rare. It’s NOT, nor has it ever been a “one in a million” disease. I know that sounds easy, convenient, accessible, and catchy. People love to be special, we love exceptionalism. We want to be considered rare and unique. But it’s just not true when it comes to CJD. If it were true, then I’d have at least 3,000,000 family members. (To date, I know of three who have died; I am still doing genealogical research to find more, so this may change).

CJD took my mother and uncle — each at age 56. It took their uncle at age 69. So do NOT ever try and tell me this is a “rare” disease. While I can support anything that raises CJD awareness, I choose not to do so without writing a blog post like this to make people think. It may be “rare” for some and that’s their lived experience.

But my lived experience is that CJD is NOT rare; it is generational. It doesn’t skip any generations. It is terrifying to look around a holiday table and wonder which of us will get CJD and which won’t. My Great Uncle Walter (whom I never met) was one of 14 children. My Grandfather Bernard — Walter’s brother — did not die of CJD but passed the mutation down to 2/3 of his children for certain so far (I am not sure if the third one has passed or not).

My lived experience tells me most doctors are aware of CJD from medical school and CMEs, but they have not all witnessed or treated it. I have given a speech on CJD to doctors at Barrow Neurological Institute to help them with CME credit on prion diseases in a partnership with the CDC. (They gave me a whole five minutes to speak after the CDC doctor spoke! I focused on the importance of autopsy in my speech). That may be all some experience in regards to prion disease.

My lived experience tells me many people who have donated blood or work in that field are aware of CJD as it’s part of the blood donation questionnaire. But they may never see someone suffer through it like I have.

This all brings me mixed feelings about today, “Rare Disease Day.”

I want people to care. I just want them to care in the right way.

We have a CJD Awareness Day on November 12, but a lot of CJD families hop on “Rare Disease Day” to promote awareness of CJD. We do many things to promote awareness, such as wearing shirts we make, or like I have done with this blog and my first CJD blog.

I’ve been doing this for 16 years; I no longer care about awareness.

I CARE ABOUT A CURE. I care about a clinical diagnosis. I care about research, drug trials, and a TREATMENT. I care about donating my body to UCSF when I’m dead. (This is good for science no matter what kills me and COVID-19 sure tried).

To truly obtain these things, yes, we do need “awareness.” But we aren’t going to get it without spreading the truth — and true horrors of this disease.

I want you to know about CJD. But there’s so much more I want you to know than just that it exists.

I want you to know it’s horrific and steals abilities from a person, dehumanizing them to the point they can no longer walk, speak, swallow, or know when they need to go to the bathroom — that’s just for starters. I want you to know that it quickly takes my family members in a matter of weeks — which IS RARE in the world of CJD.

Most families suffer losing a loved one for more than a year or 18 months. Imagine being a caregiver that long. Imagine watching your loved one suffer like they are trapped in their own declining body that long. They can’t speak to you about it; their brain is literally shrinking and filling with holes.

I want you to know that, while it is genetic in my family, prion diseases are also highly infectious. The bulk of prion disease has gotten around the planet because it’s highly infectious. But it also has spontaneously appeared on the planet, as it did more than 200 years ago in New Guinea. I want you to know that prion disease has been on the planet for that long and yet we still know so little about how to treat, diagnose, or cure this horrific disease. We still don’t know why proteins misfold.

I want to make you know and care about it to the point that you join me in doing something about it. I’ve been trying for 16 years.

I will close by saying something vital for all to understand.

Those of you who deal with sporadic and iatrogenic cases, you are blessed to only have to deal with it once — you only lose ONE.

For me, “raising awareness” isn’t a hobby or a trend; it’s life and death. It’s mission critical in my life to help find a clinical diagnosis, treatments, and a cure for CJD. Because there’s a 50/50 chance I die of this in less than 20 years. Getting likes on Facebook for sharing a “rare disease day” graphic is cute and all, but this is my life. There’s a 50/50 chance my generation of my family watches one another die of this in fewer years than I’d like to admit. I am trying to leave some hope for the next generation after mine.