A Joyful Practice

FTWMI: Liminal & Rare Days (abridged) February 29, 2024

Many blessings to all, and especially to those observing Lent, Ayyám-i-Há, and/or Rare Disease Day during this “Season for Nonviolence” and all other seasons!

If the colors are too much, click here for a monochromatic copy of the entire 2023 post.

This is the abridged version of a 2023 post related to February 29^th (which was original posted with information from yesterday’s post). Some context and links (including a video) have been added/updated. There’s no practice today; however, you can request an audio recording of a previous practice via a comment below or (for a slightly faster reply) you can email me at myra (at) ajoyfulpractice.com.

In the spirit of generosity (“dana”), the Zoom classes, recordings, and blog posts are freely given and freely received. If you are able to support these teachings, please do so as your heart moves you. (NOTE: You can donate even if you are “attending” a practice that is not designated as a “Common Ground Meditation Center” practice, or you can purchase class(es). Donations are tax deductible; class purchases are not necessarily deductible.)

“That’s the thing about a rare disease. You fight for a diagnosis for years ― on average, according to Global Genes, it takes seeing 7.3 physicians and trying for 4.8 years before getting an accurate rare disease diagnosis ― and then, even once you know, you must continue being a detective as you try to piece together the clues as to how the illness might progress. You become an expert in a disease you wish you’d never heard of.

As a parent, you also quickly morph into a nurse, therapist, chief operating officer, educational advocate, cheerleader and warrior. You feel alone, because by definition, your child’s diagnosis is exceptional. And yet, 1 in 10 Americans and 300 million people globally are living with a rare disease.

You find community not just in other people who share the specific diagnosis your family is facing, but in those struggling with any rare diagnosis. It doesn’t matter what the exact symptoms or disease trajectory are. What matters is the shared understanding that your dreams as a parent have forever shifted.”

— quoted from the (February 28, 2022*) Huffington Post article entitled “My Daughter’s Rare Disease Was A Mystery For Years. Here’s How We Finally Got A Diagnosis.” by Jessica Fein

In addition to being (what I would consider) a “liminal day,” February 28^th can also be a “rare” day. Typically, when we think of a “rare” day on the Gregorian and Julian calendars, we think of February 29^th, Leap Day, which is rare because it only happens every four years.** Leap day is the perfect day for Rare Disease Day, which is observed on February 28^th during non-leap years like 2023. Observations on this alternate date, coincide with the anniversary of the United States House of Representatives passing the Orphan Drug Act of 1983 on February 28, 1982. The act went into effect on January 4, 1983, and it facilitated the development of “orphan drugs” (i.e., drugs for rare diseases and disorders). Japan and the European Union enacted similar acts in 1993 and 2000, respectively. Prior to the act being passed in the U. S., less than 40 drugs had been approved as treatments for rare diseases and disorders (in the whole history of the United States). In the three decades after the act went into affect, almost ten times as many drugs had been approved.

Why the difference? Why did it take an act of Congress?

Unfortunately for those who face life-threatening and life-changing diseases, research is primarily driven by pharmaceutical companies, which are mostly driven by profits — and there’s just not a lot of profit in rare diseases.

“That referral led us to the geneticist, who ended up delivering the information that changed our lives.

‘Dalia tested positive for a genetic mutation that’s associated with myoclonic epilepsy with ragged red fibers, or MERRF syndrome ― an extremely rare form of mitochondrial disease,’ the doctor said.”

— quoted from the (February 28, 2022*) Huffington Post article entitled “My Daughter’s Rare Disease Was A Mystery For Years. Here’s How We Finally Got A Diagnosis.” by Jessica Fein

Approximately 300 million people are living with a rare disease. That doesn’t sound very rare when you add in their family, friends, and caregivers. But, here’s the thing: those 300 million people are not living with the same disease. They are not even living with the same two or three diseases. In the medical community, a “rare disease” is typically defined as a disease that affects fewer than 1 in 2,000 people. That means it can affect one or two people, or several hundred around the world. In the United States, Huntington’s disease; myoclonus; Amyotrophic lateral sclerosis (ALS) – also known as motor neuron disease (MND); Tourette syndrome; muscular dystrophy; Postural Orthostatic Tachycardia Syndrome (POTS); Prader-Willi syndrome; and Usher syndrome are all considered rare diseases or rare disorders. Sickle cell anemia is also considered a rare disease; even though it affects approximately 100,000 people in the United States. Autosomal systemic lupus erythematosus, which is characterized by the presence of (the more common) systemic lupus erythematosus symptoms in two or more members of a single family, is also considered a rare disease.

Approximately 72 — 80% of rare diseases are known to be genetic. About 70% begin in childhood. Tragically, thirty percent of children diagnosis with a rare disease will not reach age 5. While some people have diseases that are degenerative, some people “outgrow” their disease. Another challenge, for people suffering from rare diseases and disorders, is that sometimes people can be suffering with “invisible” ailments — meaning that others perceive them as healthy. All of these differences in symptoms and situations makes it really hard to receive diagnosis and treatment — especially since healthcare practitioners (particularly here in the West) are taught to “look for horses, not zebras.” Unfortunately, rare diseases are really colorful zebras. They require patients and their family and friends to take on all the roles normally distributed between professionals.

Recently, another couple of layers have been added to the already complicated story of rare diseases. For a variety of really disturbing reasons — that I want to believe come from a lack of awareness and knowledge — people have started co-opting orphan drugs and using them for non-life threatening issues. In some cases, they are being used for purely cosmetic purposes without any regard for the people whose lives actually depend on the medication. (NOTE: This is also happening with treatments for “common diseases,” with equally devastating effects; however, those common diseases get more publicity, because they make up a larger share of the market.) On the flip side, COVID seems to have created a situation where some rare diseases are becoming more common — which means, as twisted as sounds, that some people are feeling more hopefully, because more research and development is being done with regard to their ailment.

Again, it all comes down to awareness, education, perspective, compassion, and empathy. Which is the whole point of Rare Disease Day.

Established in 2008, by the European Organization for Rare Diseases, Rare Disease Day is a day dedicated to “raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and [caregivers].” The 2023 theme “Share Your Colours” is an invitation to share your story. Whether you have a rare disease or whether you love and/or care for someone with a rare disease, sharing your story can be a way to raise awareness, stop the ignorance, and end stigma.

If you are not dealing with a rare disease, be open to hearing other people’s stories. As rare as they are, I have known someone dealing with almost all of the rare diseases and disorders that I used as examples (above). Or, I should say, I’ve known that I knew them, because they shared their stories. Listening, as Bruce Kramer pointed out, opens us “… a little bit more.”

“To be open is to embrace your own great big messy humanity, to cry in sadness but not despair, to recognize presence in the emptiness of the bitter moment of truth, to be afraid but not fearful. Dis ease presents the choice of being open or closed, and opening to her lessons, her gifts, her challenges, is not easy. But dis ease clarifies vision, bringing sight to the blindness of what you thought you knew about living, light to the darkness of cynicism that life’s grief piled upon itself can foster. I know ALS is a horror, yet when fully embraced, it has taught me, it has revealed to me pure unsullied, uncontaminated, unbelievable love.

In my heart of hearts, I know that love never dies.”

— quoted from “25. Faith, Part IV: What’s Love Got To Do with It?” in We Know How This Ends: Living while Dying by Bruce H. Kramer with Cathy Wurzer

The 2023 playlist is available on YouTube and Spotify. [Look for “06142020 World Blood Donor Day”]

It’s About…

NOTE: Not all rare diseases are blood-based, but the playlist contains a blood-borne subliminal message.

*NOTE: A follow-up article by Jessica Fein was also published by Huffington Post [on] February 28, 2023. 

**NOTE: According to the Julian calendar, Leap Year is every four years. On the Gregorian calendar, which is used by most people who will come across this post, it’s not that simple.

“A year is a leap year if it is divisible by 4 and is not a century year (multiple of 100) or if it is divisible by 400. For example, 1900 is not a leap year; 2000 is.”

— quoted from “2 — The Gregorian Calendar, 2.1: Structure” in Calendrical Calculations by Nachum Dershowitz, Edward Reingold

### SHARE YOUR COLOURS ###