Today is the 8th Annual Rare Disease Day.

When I first began to do research on rare diseases I became quickly overwhelmed with the inundation of information. There are more rare diseases than I had ever even heard of. Many that I had because friends of mine live with them, many new ones I had to read up on to understand better because I had never known anyone with them in my own circle of peers. It is a fascinating subject, science and how the human body and brain work. I am an obsessive researcher at heart. What I quickly discovered was simply this encapsulation: one can never know what direction life will take. You can carry a child within you, filled with hopes and expectations, only to find out during a routine sonogram or at the birth, that this child will live with struggles and pain. You can live the first 2 decades of your life perfectly healthy mind and body and wake on one random normal Wednesday with one small random odd symptom and by the time you go to a doctor three weeks later you will be told your entire world is now upside down.

One of my dearest friends lives with rare diseases. Plural. She is one of the lucky ones who has been touched by rarity in more than one way. And I use the word “lucky” in a sarcastic way. Like, a  “This bullshit isn’t fucking fair at all” kind of way. In her younger years (and God knows she isn’t old now, she’s my age right now.) she was active. She was vibrant, healthy and filled with life. She ran track & field. She worked in social work. She served and played and lived. Fully. With ease. But over the past few years she has been in and out of a wheelchair. She has lived hours and days ebbing and flowing in and out with pain unimaginable.Pain so bad she would cry and her own tears on her face felt like searing burn. Laying in bed screaming because you are all out of options. Brain fog. Frustration. Her children in the other room being cared for by her phenomenal husband who has chosen this life out of his ferocious love for her, no matter how tough the journey may become. There are days she is prisoner to her own body. And then there are days she walks and plays and lives just fine. Days that pain is a shadow of a bitch that crouches in the corner and doesn’t bother her. She is my soul sister, my spirit animal, my hero on a million different good days and bad days both. And I can’t do a damn thing to help her. This is living with a rare disease, an invisible illness. This is loving someone who has a rare disease, a rare illness.

It is the parent I know who worries deep into the night for her teenaged son. He will be going away to college soon and it is with a mixture of pride and fear that she is preparing to send him off. He is incredible. Funny and kind and so smart. He has dealt with more than I ever have in my 35 years. He has fought his way through disappointments and pain and frustrations. He has always wanted to play basketball. But can’t. But ironically his disease makes him appear as if he should and could play, with his height and long limbs, so people who do not know jokingly ask him if he plays. It’s a slap in the face every time. He says “It feels like I’m being sucker punched every time someone asks me that.”   Tough for a kid. Dislocation of hips at school. And now this odd chest pain……and the EKG and blood tests come back inconclusive and his mom is scared. Because a few weeks ago I made mention of a friend of mine who had the same thing her son has and my friend passed away from complications of complications of the illness. An unlikely scenario to repeat in her son , but the worry remains.

It is the woman who lives daily with fear her kidneys may shut down. Symptoms of her struggle are painful. And can lead to death. Stress makes it worse. Imagine knowing stress can shut down your organs and lead to you leaving behind two young children as a single parent. Imagine knowing that fear every day.

It is the woman who some days gets up and goes to work and some days stays curled up in her bed like a pillbug biting her tears back and breathing through the pain that medicine doesn’t help. It is the man who used to make 3 figures and now lives alone in a small apartment with his wide array of pill bottle son the counter and his constant far that there will not be enough time, never enough time, before it all ends. He is only 6 years older than I am. I cannot imagine.

It is the woman who longs for the things she used to enjoy doing so much but now she must avoid those things for fear it will lead to serious injury. Something as simple as being around animals on a farm is now a danger because what if she passes out and gets trampled unseen? Consider that for a minute…..imagine a life where you cannot do certain thinsg if they require simply STANDING for too long because standing causes you to pass out. Constant pain. CONSTANT pain. Contemplate that for a moment. Dizziness. Moving slowly with caution so your joints stay in place where they belong. Loss of quality of life is what it is called. And what is life without quality?

It is still life.

It is life filled with screaming echoes and doctor tests and walkers and pain and pills and home healthcare aids and agony and fears and worries and one more funeral for one more friend and people looking at your child funny and someone asking “why is that man in that wheelchair, mommy?” and tubes in your throat keeping you breathing and a body in constant rebellion and a brain that used to be so able but now is caught in a fog and worries and another friend passes away………and another and another…..

Too many die as a result of rare diseases. And those who don’t are left to find their way through this spiderweb. It is an estimated 7,00 rare diseases that we know of. And out of those thousands, only around 400 have therapies in place for treatment. Rare means a whole lot of misinformation, ignorance and lack of understanding. This means lack of funding available for treatments and cures.

My desire is that you read this blog today and get a better understanding of the daily intricasies of living with a rare disease. That perhaps you can see a glimpse of yourself in the what-if of being one of these folks. Because the fact of the matter is, not one of these folks planned this or intended it to be their existence It can happen to anyone. If not to you, then to someone who you care more than anything about. I cried through writing this blog. Because the people I wrote about I  know and love. They are not statistics or labels. They are loved ones. They are dear friends, family members, the woman who will be my maid of honor in my wedding in a few months. They are my world. They matter so much to me. I wanted to put a face on some of these diseases and syndromes. You can Goggle symptoms yourself. Ehlers-Danlos Syndrome, Marfan Syndrom, Budd-Chiari Syndrom, Facial Hemiatrophy, Reye Syndrome, Tay-Sachs Disease, Sandhoff Disease………and more and more and more……Read. Learn. Imagine it is you. Be thankful it is not. Never take your healthy body and mind for granted for a single moment.  Donate. Raise awareness. Raise money.

Or, if it IS you, or your loved one or your friend, if you have danced with this demon personally and looked straight into it’s eye of fire and fear and pain and worry and frustration….if you know because you live it every single day, I applaud your courage. Your incredible bravery. Your phenomenal strength. And I wish you didn’t have to be so courageous and brave and strong every damn day of your life. Call it genetics. Call it fate. Call it shitty luck. Call it chance. It is like a tornado, touching down on one side of the street and demolishing homes and leaving tragedy in it’s  wake…..but the other side of the street is untouched, pristine and safe and whole.  If you are one the latter side, be grateful. Be part of the help in paving a way to healing. If you are on the former, please know  that you are not alone. That is the purpose for this day. World Rare Disease Day. Raise your flags. Bring awareness. Help find cures. There is always hope.


3 responses »

  1. Thank you. While I don’t have a rare disease, I live in constant pain. I’m hoping to get some relief with surgery on Tuesday. I feel lucky. That’s right…lucky. Why? Because the doctors know how to help me. For those with rare diseases, they don’t usually have that. So again, thank you. 💗

  2. Thank you, my dear friend. I couldn’t have said it better, myself.
    One thing I forgot to mention is I, myself, have an invisible illness. I have a severe form of Osteoporosis. I am 40 with the bones of an 80 yr old.
    But, I try not to focus on it, because my boys are my primary focus. They ALWAYS come first.
    So, as much as I should be likely living in a bubble, to avoid breaking yet another bone, I live my life to the fullest, with slight precautions.
    Like you said, sometimes life deals us a shitty hand. We just have to put on our poker faces and finish the game. ❤
    Thank you, again. Many, many hugs to you and your family.

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