Rare Disease Day: Loneliness

Somehow I manage to miss Rare Disease Day (Feb. 28th) each year. I’m always late to the party and one step behind (this is a particularly bad habit when it comes to birthdays…). Maybe it’s because I don’t know what to write for Rare Disease Day. Maybe it’s because I feel particularly useless and like an impostor.  It’s hard to write a blog post when you feel like a fake with your own disease, while having no one around who can empathize or who have gone through similar things.

I think that’s the thing that sticks out the most with a rare disease: It’s lonely.

I watched a documentary of a patient who had a rare neurodegenerative disorder. When he got diagnosed, he said that what he felt the most was the incredible loneliness of it all. That one word stood out to me. Loneliness. Yes. Overwhelming, unbearable, heart-breaking, self-destroying…loneliness.

I have never met someone, unrelated to me, with my rare disease.

No one with my rare disease, in my online support groups, lives in the same state I do.

My doctors ask me how to spell and pronounce my rare disease.

My doctors and my family’s doctors ask me how they should treat the rare disease.

My rare disease has no cures and no effective treatments.

There are no commercials of my rare disease. No awareness walks or marathons. No fundraising events for a cure.

People with rare diseases? We are the forgotten ones in the medical field. We are the ones who the doctors hate, with our odd symptoms, our rareness, and with our life-long, life-threatening, incurable rare diseases.

Having a rare disease means fighting for a quality of life, struggling with tasks that should be effortless, and even battling for your life….alone. Yes, friends are there and are helping to push you through, but in the end, they can’t battle for you and they don’t know what it’s truly like to have that battle.

So what does my rare disease mean for me? What should you equate with “rare disease”? Loneliness. Heart-breaking, depressing loneliness.

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Rare Disease Awareness

Rare Disease Day came and went (in February) and I didn’t write a blogpost. That makes me a pretty bad rare-disease advocate doesn’t it? Oh well, better late than never….

So what does it feel like to have a rare disease?

It’s like I can’t breath. I am going through my day, and all of a sudden something catches me, draws me back, and I’m left gasping.

It’s like I can’t function. I will be living my life normally, when all of a sudden I am reminded that my life is far from normal. Nothing says “abnormal” like wearing a heart monitor to your 8am class.

But most of all? Having a rare disease is like being gagged. I feel constantly silenced. In a society were it is expected that people are always cheerful, optimistic, and ok, while looking on the bright side of things, there is very little empathy for someone who says “well, actually, I’m not doing very well.” There is even less empathy for someone who is not doing well because of a disease that is very rarely known and never heard of.

Admitting to having a rare disease is like admitting that your skin is actually purple. It’s incomprehensible to most people, hard to relate with, and the real tragedy of a rare disease is the fact that even most doctors have never heard of them.

Imagine watching a loved one live and possibly die with a disease that no one knows and that has no treatment.

Imagine the loneliness and sorrow and having to deal with all of the pain on your own.

Because, you see, there are no commercials for a rare disease, no charity walks, no people showing up at your door with a cooked dish…nothing. There is nothing in the way of support with rare diseases.

It really is enough to take your breath away.

 

Loeys-Dietz Syndrome: Patient Voices

One of the most devastating aspects of having a rare disease is that all too often patients feel alone and isolated. Loeys-Dietz Syndrome (LDS) patients are not exempt from this. Their voices are cut short because others have never heard of their disease and therefore cannot understand the impacts that Loeys-Dietz Syndrome has on them. Awareness and understanding should never be taken for granted. A doctor’s awareness of  a disease can save a life and a friend’s awareness can offer comfort. Here are a few patients who are willing to offer insights on how LDS has affected them in hopes that maybe others can better understand:

“LDS sucks. You are constantly worrying if you really just have the flu or if you’re dying.” -Crystal, mother of 5 year old Xaviar,  TGFBR1 mutation

“Frustrated and exasperated! I’ve already been diagnosed with LDS, an aortic root aneurysm, stomach aneurysms, and an iliac aneursym.” -Monica, TGFBR1 mutation

“My wife passed away in 2003 before it was diagnosed as LDS and my daughter has been diagnosed with LDS type 1 and had aortic root replaced and aortic valve repaired in Nov. 2014. [She] had a left vertebral artery stint May 2015.” -Alan, TGFBR1 mutation

“LDS doesn’t just effect our hearts physically, it also emotionally tears our hurts apart because it takes our loved ones from us.” Amanda, TGFBR1 mutation

“Inheritance sounds better at the lawyers office than the doctors office.”…”From one of my Drs several years ago, ‘Why do you insist you have something? You are fine. You don’t have anything but nerves.'” -Elizabeth, SMAD3 mutation

“Heart surgery at some point to repair aneurysms -often multiple surgeries – is a given with Loeys-Dietz patients. I had my first heart surgery on June 23rd, 2015. I had a 5 inch section of my aorta replaced and my aortic root replaced with a mechanical one. Now, for the rest of my life, I have to take blood thinners. I’m 31 years old.” – Amanda, TGFBR2 mutation

“My son Simon was born in 1991 and was diagnosed with LDS in 2012. The diagnosis was a coincidence after investigations when an aneurysm of the aorta was found during his pectus bar operation. Simon was at first shocked. He expected that Loeys-Dietz would be excluded…. He lives his life. He is a great son.” -Karin, mother of Simon, TGBFR1 mutation (translated to English)

 

LDS Heart

We are LDS Strong!