5 Things Every Person Living with a rare disease understands ~Written By: Rachel Wilson

5 Things Every Person Living with a Rare Disease Understands

Most people have heard the term “rare disease” but far fewer can name a rare disease let alone imagine what life might be like for those who have one. When it comes to rare diseases, including rare pituitary diseases like Cushing’s disease and acromegaly, what’s truly rare is the kind of public awareness and understanding that people with a rare disease truly deserve.

Rare Disease Day, which falls on February 28, aims to spread awareness about these conditions and the impact they have on patients’ lives.

How rare is “rare?” On one hand, people with a specific rare disease are statistically few and far between – in the U.S., a disease is considered rare if it is believed to affect fewer than 200,000 Americans. In the UK, a disease is considered rare if it affects fewer than 50,000. On the other hand, there are over 6,800 such diseases, according to the U.S. National Institutes of Health (NIH), so for something considered “rare” there sure are a lot of them.

In support of the rare disease community, Novartis will be launching an educational initiative called “A Day in My Shoes” which aims to tell the stories of people living with acromegaly. We spoke to several individuals for this post, and, as part of this effort to educate, they shared five things almost every person living with a rare diseases knows:

1. Getting properly diagnosed is one of the biggest challenges. Rare diseases are so rare that the symptoms are often misunderstood and as a result, people with rare diseases often spend years trying to get properly diagnosed. In the case of acromegaly, getting a correct diagnosis can take anywhere from six to 10 years and for Cushing’s disease, it can take about six years on average. By the time they’re diagnosed, many patients are just relieved just to put a name to their symptoms.
2. Your friends may know about your diagnosis, but only a few gems will really get what a chronic illness is or what it means. Many people are so uninformed about rare diseases that they expect your rare disease to clear up like a lingering flu. Blogger Rachel Wilson has Cushing’s disease, an endocrine disorder caused by a noncancerous pituitary tumor which ultimately leads to excess cortisol in the body. “There’s not a lot of empathy,” she notes. “Even some people that know me kind of get annoyed. ‘You’re sick again?’ or ‘What do you mean you can’t walk with us? But you walked last week!’”
3. You choose whom to tell very, very carefully. Most people living with rare diseases agree that once a diagnosis is public knowledge, people treat you differently. “I want them to know I have serious health issues but… I don’t want people to look at me like I’m disabled,” Rachel explains. There’s a paradox that patients face – wanting to tell but knowing that the people they tell are likely not to truly understand without a lot of effort on their part to explain…and then still, they probably won’t get it like they do with more widely known diseases such as cancer or multiple sclerosis.
4. Rare disease patients often play a large role in educating their doctors. Rare diseases aren’t just rare to the general public, they’re often rare to the physicians who treat them, even specialists. You’ve tried what seems like every available treatment, read medical journals, and done your own research. With all this, plus just living with the condition, you are the world’s foremost expert on how your rare disease affects you.
5. People will try to cure you. Not just your doctors. Everyone. Your Aunt Sally swears by a green smoothie and its healing properties. Your son’s third grade teacher has these supplements you simply have to try. “Everyone knows everything about anything,” is how Rachel puts it. “People like to diagnose you, or treat you, or, since they heard about this on a TV show, they know it’s not as bad as you make it out to be.” Many rare disease patients feel that people equate “rare” to “not really understood by the medical community.”

And while some of these realities for people living with a rare disease may indicate that they want both privacy and just to be treated like everyone else, most are strong advocates for public education efforts. Cushingstories.com co-founder Rae Collins notes, “Educating was key. To help others understand the disease, for me to understand it more, to help doctors even understand what I was going through. The more people who understood in my life, the better it became to me.”

Check out Novartis’ The Voices of Acromegaly and Voices of Cushing’s disease, a three-part video series that feature advocates, caregivers and people living with rare diseases on the Novartis Rare Disease YouTube Playlist.

For additional information on rare diseases and Rare Disease Day, visit Rare Diseases: More Common Than You Think? or the Rare Disease Day 2015 website.

via;  http://www.novartispharmaceuticals.com/en/stories/detail/5-things-every-person-living-with-a-rare-disease-understands

Reconciling the Two of You

"You know, a year is a long time to be sick" a person once told me in regard to my husband.

I really didn't think it was.  To be terminally ill within a period of a year, seemed like a pretty fast course of events in my eyes.  After all, it is not as though my husband was immediately incapacitated the moment he was diagnosed with Pulmonary Fibrosis.  As a matter of fact, he only went into the doctor's office thinking he had developed allergies...

The illness occurred in stages, as well as his acceptance of what was happening.  He had always been a very active man.  He took care of everything.  To everyone who knew him, and even to himself, he was strong.  I can tell you, I have never felt so safe and secure with anyone else.  Being that he was a bit of a traditional person, this worked out nicely.  He was my protector.  His physical strength led to the belief that he was emotionally the same way.  Dependable and strong.  Which was true as well.  At least, he worked very hard to be so.  I think he tried to give me the best of himself. 

These things do not immediately change when diagnosed with a disease.  The disease itself did not truly begin to reveal itself until a good six-months later.  That was when everything he did began to take a great deal of effort.  He was gallant in his will to hold onto his strength.  But, in stages and degrees, his strength began to slip away from him.  Within each degree, he suffered greatly emotionally.  It was so hard for him to believe that this was happening.  It was hard for me to believe it, too.

By October, I knew he had become a different person than he was before.  He needed me.  He always had needed me, although now he needed me to help him through the rest of his life.  I took a leave from work.  I didn't want to do this because it meant he would not have much more time, and how could I possibly accept this?  The logical side of me knew it was time, but my heart denied it all the way.  All the way up until the day he passed away, in December.  

Now, when my heart and mind goes to him, I think about all the things we did in our years together.  We are active.  Moving.  Always moving.  Now and then, my mind and heart jumps to the other spectrum -his last days.  All the things I blocked out as they were happening, come back so fresh it fills my eyes with tears.  Him, carried into the bathtub for his last bath.  The few steps he was able to take before resigning himself to bed, for good.   

I know this is hard to hear.  Especially if you are reading this and have Pulmonary Fibrosis.  The interesting thing is that it affects each person differently and many have found ways to live a flourishing life and go much further than my hubby and I did.  This is hard for me to say, too.  But, I have to be honest to my experience.  What I am currently struggling with, is how this disease could have changed my husband so quickly?  I was there with him, but still can't seem to believe what has happened.  My heart can't seem to reconcile the vast differences in memories I have about one person.

What Time Will You Be Home?

I remember, shortly after my husband was diagnosed with Pulmonary Fibrosis he said to me,

"I have an idea.  Let's just go along with our lives as we always have and pretend that this (diagnosis) never happened." 

"That's fine in theory."  I said.  

"I wouldn't mind trying that, although how long do you think that will work?" 

We then had a long discussion about the pros and cons of denial.  As though denial is something we could "decide" to do.  Which is kind of ironic considering the discussion alone meant we were accepting what has occurred.  Throughout his illness, we both experienced different levels of denial.  Within the months that followed, he would toss and turn in his sleep and the next day, I would ask him if he remembered what his dreams were about. 

"I was dreaming about being on the truck."  Or, "I was at work."  Was his usual response. 

Months later, when he was unable to walk or leave his bed -it was my turn.  At night, I always dreamt about he and I holding hands and walking.  The dreams were so strong that when awaking, I would have to stifle my sobs, so that he would not hear them.

Even up to the few days prior to his passing I lived in a world of denial, while he, on the other hand, seemed to have come to a strange level of acceptance. 

He would say to me, "When I am gone, please take care of yourself.  Do not just settle for someone new.  You deserve the best." 

Meanwhile, I would say to him, "You can't die just yet, we haven't taken care of such and such...." 

I did not do the proper thing that most caregivers should do, giving him permission to go. 

I never did grant that to him.  It was a very selfish thing on my part and I knew it, but I just couldn't tell him it was okay to leave me.

The whole time I took care of his everyday needs and with my own two-eyes saw his strength leaving him.  We even discussed his wishes for after he was gone.  In advance, I went through the proper channels of arranging all of these things, just as though I was scratching off a list in my day planner.  Yet, I was in denial that there would ever be a time when he would physically leave me. 

My hubby died in my arms and I literally saw the light leave his eyes. 

But, I was surprised.  It took me off-guard.  Now, I wander around the house looking for him. 

I rush up the stairs to tell him about my day. 

I turn corners and expect to see him. 

I call his cell phone to ask, "What time will you be home?"