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National Rare Disease Day: Effects Us All

rare disease

An estimated 25 million Americans have what is considered a “rare disease.” I am one of those lucky few people. Actually, a whopping 5 of my diagnosed conditions are considered rare: Trigeminal Neuralgia, Sjogrens, Vasculitis, Gastroparesis/IBS and the “Big One:” Relapsing Polychondritis. To be qualified as “rare” the disease has to effect fewer than 200,000 people. Relapsing Polychondritis effects only 3.5 people per million, making it an extremely rare disease. Yippee!

Why is it important for you to be aware of rare diseases? We all know someone with a rare illness, even if you don’t realize it… for many it is as close as a dear loved one, for others, a co-worker or neighbor. Rare diseases impacts us all. 1 in 10 Americans has a rare disease. Many are disease names that would sound completely foreign. But others are startling familiar; all but a few cancers are considered “rare.”

The biggest challenge of living with a rare disease is treatment. Very little research is done on rare diseases and therefore most treatment options are considered “off-label.” More and more insurance agencies (especially Medicare and Medicaid) are beginning to deny these treatment options. I am all too familiar with this struggle:

One year ago, I started an infusion (IV) therapy that was showing remarkable progress in the decrease of my symptoms and increase in my quality of life. I was hopeful about my disease and the possibility of remission for the first time in a long time. Then on the eve of my third treatment, the doctor notified me that my insurance decided to deny the treatment because they could not find any research on record of it being effective (obviously!). They not only halted all future treatments, they retroactively denied the treatments that had already been given, totally ~ $7000!

I have tried to appeal this decision, get help from government agencies and representatives, receive grant or medical support funding, and to find clinical trials I qualify for. All to no avail. There are many trials being conducted with this particular medicine, but all are on already studied and established diseases.

Beginning this calendar year, I have run into the same situation, but now with drug options that I have been receiving for long periods of time, all shown to be effective in my individual care. But these documented facts are not being taken into account. And my medical insurance is either denying them, or placing such high deductible payments on the prescriptions that I can no longer afford them.

For some reason, the insurance community has yet to recognize that by denying these effective, albeit unstudied treatment options, it is only increasing the cost of medical care in the long-term as my, and millions of others, diseases rage out of control.

This same situation is happening to millions of Americans. Most likely someone you know has experienced this. We all know someone battling a rare illness, even if they are living in silence with it. Currently, there are about 7000 rare diseases… and less than 400 FDA-approved treatments. Just pause and think about the impact of that for a moment.

This is why rare diseases are often referred to as “orphan diseases.” For we have been abandoned by the medical, insurance, and pharmaceutical communities.

People with rare diseases have difficulty obtaining an accurate diagnosis, and oftentimes wait 3-6 years to receive any diagnosis. But that’s just the first hurdle, because once a diagnosis is given, it can be even more difficult to find a doctor with experience and knowledge to treat the disease. For me, I have to see a myriad of specialists who each treat one part of my disease, or one set of symptoms. They rarely communicate with each other (if at all) and no one doctor is looking at the “whole picture.” Many times, I am the one educating the medical provider on my disease. This puts a lot of pressure on the patient to be their own advocate and teacher. It’s exhausting!

This can all begin to feel overwhelming. And you may be wondering how on earth you can even make a dent in this problem.

Well, today is National Rare Disease Day. An event that is really only in its infancy, but growing globally every year. It began in Europe in 2008 and the US adopted it in 2009. It is sponsored by NORD (National Organization for Rare Diseases), who since 1983, has been the biggest proponent in the advancement of research and treatment develop for rare diseases.

This year’s focus is on recognizing the stories of those living with and alongside rare diseases.

For the biggest challenge of living with a rare disease, is not the lack of medical care, or knowledge and accessibility in the medical community… It’s actually the feeling of isolation that comes along with these rare diagnoses.
But, by sharing the stories, your own or that of a loved one; by posting them on social media; and publicly showing support for all of the 1 in 10 Americans diagnosed with a Rare Illness, you are shining a light of love, support and hope on all of us.

By bonding together, through not our individual disease, but through the collective difficulties and trials that come along with a “Rare Disease,” WE are no longer alone. WE are no longer isolated.

As the NORD motto states: “ALONE WE ARE RARE. TOGETHER WE ARE STRONG.”

You have all given me that gift over the year and a half that I have shared my journey through this blog. Thank you for that .

For today celebrates not only the super human strength of those who get up to face each day despite the challenge of their disease, it also celebrates YOU… the caregivers, spouses, medical providers, friends, and co-workers who support us and carry us through. And it is for the anonymous “kind strangers” that open the doors when we’re struggling and give us smiles of encouragement. Today is for ALL of us. For Rare Disease is not an individual problem, it is an American Problem.

Rare Disease Day Video (watch, post and share!)

To find out more about Rare Disease and ways you can help, follow the links in this blog and below:

NORD: National Organization for Rare Diseases

Rare Disease Day 2015

“Living With Rare Disease”

Dr David Trentham (article on Relapsing Polychondritis by leading physician for disease)

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“What Goes Up Must Come Down”

tear

“What goes up, must come down.” These lyrics keep dancing around (banging around?) in my head.  They seem to be the only thing that accurately describes my current state of being. And let’s face it, my life in general.

Once again, the rug has been pulled out from under me. I felt like my life was traveling in an upward momentum. With starts and stops along the way, of course. But, truly could I expect anything less? Still, generally moving in a positive direction.

After such a struggle throughout the fall, with a constantly flaring body unresponsive to current courses of treatment, unrelenting fatigue, and an onslaught of back and forth calls to insurance pleading my case, there was finally some light at the end of the tunnel: infusion treatments were finally approved, literally in the 11th hour.

I began my Simponi Aria infusions around Christmas and experienced immediate improvement in my symptoms. My morning stiffness went from 3 hours to 2 and even onto a mere 1 many days!! My fatigue was abating and I was able to participate in multiple family gatherings without weeks of post-event “crash and burn.” It was a gift. It was a miracle!

I anxiously awaited my second infusion and experienced similar success, even a tad better this time! We may have finally found something that treats my autoimmune illness,” my heat sang with glee!

Visions of days without pain coupled with participating in, instead of just sideline observing my life danced in my head! I even allowed myself to daydream about a future of renewed productivity and purposefulness.

In the last couple of weeks, my body started to crash again (hence the lack of blog posts); locking, swollen joints, pain and fatigue. But this time, I was happy for the symptoms. Strange, I know. But they were clear indicators that the infusion indeed was working because I was on a downward trend heading right into my next scheduled infusion…

This Monday! Hooray!! I can’t wait! Bring on the relief!

But, then, remember the second half of my opening refrain? …

“…Must come down…”

And, come down it has. Crashing down.

Today, was my first follow-up with my rheumatologist since the start of the new infusion treatments.  I gave him the same low-down I just gave you. And he looked sad. Defeated.

“Has the billing office contacted you?” he tentatively begins.

“Guess they’re leaving it up to me to be the Bad Guy.”

What? What is he trying to say?! My heart begins to sink. Am I hearing this right?

Both Medicare and my (supposedly “super-duper”) private secondary insurance suddenly decided to retroactively decline my treatment.

“Its off-label,” they tsk. Tsk.

Well guess what numnuts?! EVERY medication I take is off-label.   I have a RARE disease that does not get studied because it is not profitable for the drug companies whom sponsor said studies. Never mind, that my disease, Relapsing Polychondritis, has an extremely high mortality rate in untreated cases (before discovery, most people were diagnosed post-mortem). Guess they don’t care when it’s only a 1000 people in the U.S. population.

So, now, not only have they denied any future treatments, they have also reneged on payments due for treatments already administered! That’s 2 infusions at the “cut-rate” price of $10,000!!! How can that even be ethical?

Doctor: “Legally, you could be held financially responsible for this amount. Ethically, I could never allow that to happen. And, we could continue treatments if you have a bunch of cash lying around to pay out of pocket.” Wry smile.

Full disclosure here: I just did our taxes and guess what? My husband and I currently bring in a combined annual income of a whopping $33,000! So, yeah, I don’t think so.

So, bottom line… it appears that insurance (or let’s face it, in this case, the government), feels it is more cost effective to keep me chronically ill (meaning more urgent care costs, hospitalizations and the such, in the future) and unable to have gainful employment (requiring on-going SSD payments), then to pay for a medications that will treat my disease (now) and prevent the progression of it.

What kind of upside-down world do we live in?

But, guess what? The ball has once again landed back in my court.  And what choice do I have but to evolve and adapt once again? To reassess life and the options it presents me, to pick up the pieces and try to build something worthwhile out of the rubble…

And I will.

But, for a short bit, I just want to have a pity-party.

To whine, “why can’t anything ever be easy, or at least simple, for me?!”

Because it just is NOT.

There must be some major life lessons I’m supposed to learn this lifetime around.

They say that when you pray for something, God doesn’t give it to you, he (she) gives you an opportunity to develop that skill. But did I really need another chance to practice Acceptance. Resilience. Inner Strength?

It feels like I have enough of that to fill 10 lifetimes.

Sigh.

The Autoimmune Puzzle PART 1

puzzle man

“What does “autoimmune” mean?” “What’s the name of your disease again?” “Wait, could you slow down so I can write that down?”  “My friend has (insert any number of conditions), is that like yours?”

Those of us with chronic conditions can all relate to receiving these inquiries, from close family to just met strangers, almost daily.  And now that I live in the vortex of the autoimmune cyclone, I forget that the average citizen doesn’t know what I mean when I toss around random medical terms, speaking the unique dialect of the “autoimmunie”.

Can you name one autoimmune disease?

If not, you are not alone!  In a recent Roper poll, less than 6% of Americans surveyed could identify an autoimmune disease. It’s time to change that statistic!

So, today, I am going to begin a series of posts to Untangle the Mysteries of the AUTOIMMUNE Puzzzle:

When people hear the term “autoimmune”, they interpret it in all kinds of ways… from HIV, to AIDS, to cancer, to the flu… anything they relate with “immunity.”  My typical layman’s definition is: “There are hundreds of autoimmune conditions.  The most commonly known ones are M.S. and Lupus.   Basically, it’s when the body turns on itself and starts attacking a variety of systems and organs.  It can attack the bones and cartilage, the skin, the nervous system, internal organs; basically anything it perceives as an ‘enemy.’”

Then I usually experience dumbfounded silence or a new barrage of questions: “What causes it?” “How did you get it?”  “Can you get better or be healed?”

I remember all the questions I had when I was first diagnosed.  Now its second nature, but it certainly didn’t start out that way!  So, today, I thought I’d go a little deeper to uncover the facts about autoimmunity.  I truly believe that knowledge is power… for the person suffering from these conditions, for their loved ones and caregivers, for our friends, and for the community at large.  If we are ever to get the funding needed to answer those questions above, we need to first educate people on the serious and wide-spread effect these conditions are having on the world!

So… let’s begin at the beginning:  What is AUTOIMMUNE?au·to·im·mune  /ˌôtōəˈmyo͞on/  Adjective:

Of or relating to disease caused by antibodies produced against substances naturally present in the body. (from dictionary.com)

“What is Autoimmunity?”

One of the functions of the immune system is to protect the body by responding to invading microorganisms, such as viruses or bacteria and producing antibodies or sensitized lymphocytes (types of white blood cells, important to immunity). This process can be beneficial when the body attacks a foreign substance such as a virus, bacteria or cancer cells.  But it can become destructive when the body misperceives healthy cells and tissue as the enemy, creating antigens against these healthy cells and organs.

“What happens when your body comes ‘under attack’?”

Under normal conditions, an immune response cannot be triggered against the cells of one’s own body. In certain cases, however, immune cells make a mistake and attack the very cells that they are meant to protect. This can lead to a variety of autoimmune diseases. They encompass a broad category of related diseases in which the person’s immune system attacks his or her own tissue.  Autoimmunity includes diseases of the nervous, gastrointestinal and endocrine systems as well as of the skin, other connective tissues and blood vessels (basically anywhere in the human body!).  Autoimmune disease fall under two categories: Systemic (wide-spread, affecting multiple systems; in conditions such as Lupus and Rheumatoid Arthritis) or Organ Specific (in conditions such as Multiple Sclerosis, affecting the nervous system and Grave’s Disease, affecting the thyroid).

“I’m not sure I understand what connective tissue is?”

Connective tissue is the tissue which binds (holds together) all body “parts” (ex: joints and bones) and organs.  Connective tissue includes: cartilage, ligaments, and tendons.

“What causes Autoimmunity?”

The immune system normally can distinguish “self” from “non-self.”  Autoimmunity occurs naturally in everyone to some degree; and in most people, it does not result in diseases. We need natural autoimmunity to survive; to fight foreign substances in our bodies.  The problem arises when the body perceives natural occurring substances (cells, tissues, organs) as foreign.  Autoimmune diseases occur when there is some interruption of the usual control process or when there is an alteration in some body tissue so that it is no longer recognized as “self” and is thus attacked.

“What do you mean, ‘under attack’?!”

 Autoimmune diseases arise from an overactive immune response of the body against substances and tissues naturally present in the body.  In other words, the body attacks its own cells.  It starts to perceive everything as the “enemy.” (Imagine your immune cells chomping away through your cartilage or bones… I picture a horror version of the game PacMan!)

“Is the process/progression of Autoimmune Disease always the same?”

No, there are many variations on the way a body can attack itself:

  • Some diseases are relapsing and remitting (flares of symptoms come and go) and some are progressive (symptoms always present- my disease progresses in this way)
  • Some diseases cause a slow progression of the destruction of a specific type of cell or tissue
  • While other diseases stimulate an organ into excessive growth
  • And still other diseases interfere with the function of an organ or bodily system

Now you’re starting to see the many puzzle pieces in the Enigma of Autoimmunity!

 

End of PART ONE

Be on the look-out for further answers to questions such as:

“Who is affected by autoimmune disease?”

“What are the effects of a prolonged autoimmune attack?”

“What are treatment options?”

“What conditions are considered ‘autoimmune’?”

“What kind of medical professionals treat these conditions?”

“What the heck is Relapsing Polychondritis?”

“What does it mean to have a ‘rare disease?’”

And the BIG ONE…

“What causes the body to turn on itself?!”  (This one’s a gripping tale so you’ll want to stay tuned for more!)

Thirsty for more information or knowledge right now?

Here are top sources I recommend:

American Autoimmune Related Diseases Association: https://www.aarda.org/

American College of Rheumatology:  http://www.rheumatology.org/

National Institute of Arthritis & Musculoskeletal & Skin Diseases: http://niams.nih.gov/

Polychondritis Educational Society, Ltd.: http://polychondritis.org/

***DISCLAIMER: The above information is compiled from my own personal research.  It is meant purely as a starting point.  I encourage you to contact a medical professional with any questions regarding Autoimmunity.  And, certainly if you think you may have one of these conditions or need information about a current diagnosis, contact a physician as soon as possible to receive information re: your conditions, treatment options, etc. ***