“Is your disease fatal?” was a question I thought I knew the answer to. Today, I’m not quite sure.
Last summer the GNE Myopathy (aka HIBM) community learned Ji-Min, a 40 year old Korean Patient in Seoul, died due to complications from GNE Myopathy. Ji-Min was the leader of the GNE Muscular Disease Society Korea and featured in the video above. On August 3, 2019 she never woke up. She is the first patient we know who has died from the disorder I have.
Her community explained that Ji-Min complained of uncomfortable breathing and shortness of breath due to limited movement in her neck. In her progressed state she was unable to spit phlegm on her own and had difficulty coughing due to weakened muscles. Whenever she couldn't breathe, phlegm blocked her airways and someone would have to use a cough trigger to drain it. Ji-Min had very weak neck muscles and couldn't move her arms to correct head position. In a weakened state one wrong position can affect airways. The doctors wanted to do airway intubation, like many ALS patients have to, but refused because she wouldn't be able to talk or eat.
The community's prognosis perception of GNEM was complete quadriplegia, although every patient progresses differently and many can experience a much slower progression or milder result. But death was never an end result and it was thought that GNE does not affect breathing, throat muscles or heart muscles. But our disorder is still fairly young and there is still much to discover about our community. These symptoms of breathing difficulty, throat and phlegm blockage problems have revealed a shared common experience among patients who are now sharing they are having the same problems.
I have been having these same issues for the past couple years.
Before hearing the tragic news about Ji-Min, I completed multiple tests for a series of autoimmune like chronic symptoms that overtook my life for a couple years. Fortunately, and mysteriously, much of these symptoms have lessened, but one of those symptoms were issues with frequent spontaneous choking and momentary breathing difficulty. This happens out of the blue and maybe once a day or every other day. It’s scary. Every time it happens Jason worries I'm going to choke to death – it looks that severe. And for the past 1.5 years I have had trouble clearing phlegm as it piles up in the back of my throat at even the slightest signal of feeling fatigue or sick. My neck has become unbearably weak in a short time and I can feel the weakness of my throat and lymph nodes flaring up as I try to clear a thickened blob that refuses to move.
The medical conclusion? Doctors couldn't identify anything out of the normal and concluded my choking and phlegm issues were derived from my muscle wasting disorder. A month later I heard about Ji-Min's passing and this verified the origin of my problems.
Before her passing, Ji-Min and I had spoke a few times and discussed me visiting Korea to speak with patients. They wanted me to share about advocacy, yes. But mostly sharing about living life to the fullest; an aspect a Korean neurologist told me wasn’t built into the spirit of people with disabilities due to their culture.
Korea has become better with their stigma against disabilities but still far behind. Koreans with disabilities are a little more visible in society, but back when I was diagnosed in 2004, I imagine patients weren’t public. If you had a disability then in Korea, you probably were forced to stay inside due to an inaccessible society, both physically and socially. This is the case for many countries who haven't socially progressed.
They also didn’t know the name to their physical peculiarities as Korean patients have just recently surfaced in an ever-growing diverse community. When I was diagnosed in 2004 I was told there were only 1,000 others like me in the world. Today, there are 2,000 known cases worldwide and it’s speculated many more thousands are unknown.
A couple years ago at a California NDF patient forum I met my first Korean patient and a neurologist focused in Muscular Dystrophy from Seoul University and they directed me to Ji-Min. I had always wanted to meet another Korean patient because I'm a Korean adoptee and this disorder is genetic -- linking me to a biological past I never knew. Because it's genetic, sometimes GNEM has multiple family members in one family who are afflicted, so who is to say...maybe...just maybe, I have family...sister...brother with the same condition.
It's possible. Very possible.
In 2009, I was supposed to meet my first Korean patient when I visited Japan to speak and help newly formed patient group in Japan. After Japan we stopped in Korea and I was scheduled to meet my first Korean patient but they canceled at the last minute. I'm told the reason was privacy and fear as they still kept themselves hidden from society out of shame.
Can you imagine? Shame? For having a genetic disease we have no control over. And, yet this is true for many ethnicities.
I'm still planning to visit my birth country at least one more time before my travel days possibly end, and this time I will be able to meet a group of fellow Korean patients like myself…minus Ji-Min.
Ji-Min and I were the same age but she was more progressed than I. Still. The news of her passing penetrated my mind. It is now possible death could be on my doorstep. This happened six months ago and I’ve found it difficult to share. Perhaps I was having trouble processing the news or perhaps I was waiting to see if her death came from some other disease she didn’t know she had.
Either way, everything I thought has changed. Again. While my life's road was a bumpy uncertain one, the uncertainty of never waking up is another “What If?” etched into my mind. I'm left in this solitary surreal bubble still wondering how this happened to me.
It's there. It's hard. And, I feel alone in a very crowded room.
What is happening?
Why is this happening?
I feel like I'm in a wind storm, fully dissipating into the soft baby blue sky and I wonder, like we all do, will anyone truly miss me when I pass this earth? And, did I do enough to make a difference?
* * *
I'm constantly brought back to this childhood moment. Maybe I was nine. It was a cold winter day in Michigan and my mother asked me if I wanted to go to Targets with her. I actually hated shopping. Always have. But she loved to shop and I loved joining her because it seemed to make her so happy. It was time together. As we walked from the back of the parking lot to the store, I was cold and lazy like any nine year old child. Inching towards the entrance, I pointed to the blue lined disabled parking spots and said, “It's cold, I wish we could park there.”
My mother quickly jerked my hand back and said, “Don't say that. People don't want to park there, they have to.”
I can't say I understood what she meant then but this moment, and the irony of it, has visited me over the 20 years of this condition in haunting detail.
* * *
I'm 40.
I’m still young.
I have all this passion — all this curiosity for life just dying to get into the game without constant struggle and frustration filling every minute of every day. I have so much ambition…so many ideas, project ideas and accomplishments still left to complete.
This experience has affected me in ways I could never articulate. It's an endless game of “miss you more.” and I'm simultaneously in constant grateful and grieving mode. It seems so unfair to constantly be living against the clock.
The future is overwhelming and many times I feel the challenge is too big, even for me. And, in my self-pity mode it seems like everyone else gets to live their life just as they planned while I'm left here, alone, with an increasingly difficult life. So many of my choices and dreams have been taken from me because of this fucking disease.
I was going to have children. I was going to visit an unknown past I wasn't privileged to know through my children's eyes. I was going to teach them all that I had learned from life, and make sure I expected nothing more or less than their happiness in whatever path they chose as they rose to adulthood. And, then they would have children. I would have grandchildren. And like my grandmother, I would host all the big holidays in Pinterest fashion and shower them with love through cooking. I would experience a new kind of love for a child as I blissfully glee in witnessing their lineage back to my children…back to me.
This would be MY family and I would never feel alone ever again. My first biological family. But I don’t get to experience nor witness this cycle of life so many take for granted.
I don’t think blood deciphers the strength of love or family companionship, but this aspect of missing links, of a missing self, is alway looming like some loving, ominous shadow.
So much of the picture I envisioned didn’t happen.
I see all my friends and family having children and of course I'm genuinely happy for them. Really. But sometimes it's a sweet knife that cuts me in a thousand pieces. And, at times I imagine myself in the future with this body. Old. Immobile. And alone with no children around to remind me I'm loved and needed when everyone else in my life has passed on. And it feels cruel.
After all, I did everything I was supposed to. I was a successful student and an obedient child (well, except for that one time 😉). I worked hard as hell, sometimes two to three jobs at once while putting myself through two college degrees. I've focused my life on charity even way before I finally discovered what was happening to my body at 24. I had unknowingly checked off the milestones that are expected of “the good people”, but no one tells you there is an alternate list. The list no one wants. The list that does not care if you are a good or bad person. And it seems unfair.
I realize how self-indulgent this “unfair” assessment is because what is fair? Life is unfair to billions of souls around the world, so why not me? But I'm human and even with perspective the calamity of it all is overwhelming.
You see this happen to others around you or in the news, but it's always so distant as we arrogantly think, “This could never happen to me.”
But it did.
I don't share for my readers to feel “blessed” that this isn't them. I actually loathe this typical reaction. I don’t exist to remind others to be “thankful”. My struggles are not others' feel good props. And I don't exist as a scale of “terrible” yo are glad isn’t you, nor am I here to stimulate fleeting “blessed” mental notes as you pass by me and forget.
Inspiration is to be inspired to action, not passive gratuitous “feel good” intoxication that is abandoned once your mind flips to the next station. I don’t mind being an “inspiration” if it creates change.
When people say, “You're brave...fearless...courageous.” I don't agree. I’m not brave, I just have no choice. We are not without fear, I am not without fear. I'm cascaded by fears lurking around all day long but my passion for life pushes back against all of it.
I publicly share to awake the consciousness of the depths of those with lives and bodies that are in constant odds with the person, and the complex conversation that exists inside every day for people like me.
The future is terrifying. There is no mincing of words. So many times Jason and I feel like we’re drowning. Helpless. And, overwhelmed. It's a lot. It’s scary, and now, even more so.
I'm not AS afraid of dying as I am of not knowing I died or going to die before it happens. How cruel. You put your head down at night without the awareness of, “This is it.”
This disease. This life is compounded by the fact that I always did want more from life than the average individual. And, I don't mean wealth.
I had so much potential to live a life full of vitality, and my life IS this but not in the way I would have liked. All I ever wanted to do was live and try and be open to everything; something so difficult for us humans to achieve. And, yet here I am open to all of it while my body attempts to override my spirit.
As my LA Times feature so perfectly said, “You Travel. You Love. You Create. You Yearn. You Believe.” And, I'm doing that to the best of my ability.
We think about the costs the future brings, but when it comes down to it, the best thing is not to think too far ahead. It literally is a day-by-day, step-by-step journey.
All I can do is take it one day at a time. That’s all I can do.
That’s all I can do.
What I realized after this disease began, especially after it really started progressing, is as healthy beings there really is very little out there stopping us. We can do it.
We can do it.
I live my life with no regrets and if tomorrow was my time, it would suck, but I know I've lived and done more than most. I’m fortunate I’ve pushed myself to do some crazy things in life -- only half of which I’ve shared publicly. I have perspective and no one can take that from me. The memories I've made up until this point is enough to carry me through my forever sleeping dream. But, I'm not done living. My pockets are overflowing with dreams and my insides expanding and so much wiser. What a waste to not allow me to live to my full potential. There is so much I want to do, so much I have to say and so many people I want to help.
My disease doesn’t stop me but hell does it make me fight for every single step, which means all of you have no excuse in turning people and life down when they come calling.
The next five to ten years I’m living even harder. I'm not sitting here waiting for this damn disease to eat me alive. I'm not wasting what time I may have left. Not every patient will die from GNEM as we each have unique experiences. It could turn out I live only five more years or another forty years, nobody knows. In the end, disease or not, we are all up against a potential unexpected ticking clock.
We all have experiences but to have meaningful ones where we connect and commiserate in our laughs and sorrows is a powerful thing. And, I wished we as a society realized this much more. Instead, we focus on the trivialities of the minute and division, rather than the vista that lays before us. We focus on what’s different between us rather than how we are the same. I want people to feel meaningful and do meaningful things. I want people to feel the power and the depth of compassion, curiosity and caring for someone they don’t know. If only we really understood how short it all is as the world cries — asking for a little more love because it’s so short. It’s so fucking short.
If tomorrow I never wake up I would say, I love you. Growing up my mother always said, “Never say goodbye without saying, I love you.”
Love and be loved. And,don’t wait to tell others how you feel and how much you love them. Not all of us have forever.
Breathe. It’s going to be a bumpy ride.
My art gallery
Follow my wheelchair travels, art and mini-memoirs at Instagram.com/kamredlawsk and Facebook.
As far as medical research, I wish I could say it was close. I haven’t lost hope but by this stage, someone with my progression level would need regenerative therapy and that is even further away. For those of you who followed me during my ARM (nonprofit for HIBM/ARM) and Bike for Kam days, I'm no longer involved on an organizational level and have been an independent advocate since 2015. I bowed out of the organization scene because I was progressing and losing my hands. In many ways my GNEM and disability advocacy stunted my Industrial Designer career aspirations — not defined by my disease or disability. So, before it all leaves me I wanted to indulge in my own creative endeavors, which still includes advocacy as my art is centered around this part of my life.
There is a ManNAc substrate therapy (pill) entering stage 3 clinical trials. ManNAc has been in development for years, even before I got involved in 2007. The other substrate therapy trial, Sialic acid, ended a couple years ago due to minimal results. And, there are a few gene therapy projects being funded around the world. But that’s about it. I wished I had better news…one day.