#rarediseaseday

Wednesay is Rare Disease Day 2018! This is a day dedicated to people who live with rare diseases, awareness of rare diseases, fundraising for research, treatments and cures, and a day for those of us with rare diseases to share our stories. graphic about rare disease day with logo

Living with a rare disease can be incredibly isolating and at times, frustrating, scary and  challenging. You get used to knowing more (or anything) about your disease even when talking to medical professionals. You get anxious trying new things or going new places in case something happens and the medical staff don’t know your condition. Every year during rare disease day I strive to spread awareness not only for rare diseases (most of which have no cure), but also for orphan drugs and the researchers and companies supplying them. Orphan drugs are drugs that are designed for a problem or disease that is rare. They often struggle to find funding and complete clinical trials and most do not get through the trial phase. Additionally, if these medications or therapies do make it past clinical trials, they are often ridiculously expensive (think >$10,000).

For a list of known rare diseases click here

 

rare-disease-cloud-e1444332661951.jpg

Care about Rare

February 28th is Rare Disease Day.

Now, if you’re like me you might roll your eyes at this one. In a time with social media, ice-bucket challenges, awareness months for every condition known to man, ribbons, and GoFundMe pages, awareness of something is almost always going on. Let us all admit we are burnt out on breast cancer awareness. Don’t get me wrong, breast cancer sucks but the funding and publicity are not correlated with its prevalence, deadliness, or need for awareness. Additionally, caring burnout is occurring due to politics, wars, tragedies, disasters, and maybe even the loss of your beloved pet rock “Rocky Balboa”. Whatever is going on in your life, I hear you, your frustrations and hurt are valid.

Now let me tell you about why Rare Disease Day is important.

First off, lets get our knowledge on because who knows anything about this stuff, let’s be honest. According to the Global Genes Project:

Orphan drugs are drugs specifically for treating rare diseases.
In 1983, the US passed the Orphan Drug Act which allocates grant
funding to companies researching and developing orphan drugs.

 

  • in the US, a rare disease is any condition that affects less than 200,000 people (under 50,000 in the UK)
  • 80% of all rare disease patients are affected by approximately 350 diseases
  • 50% of people with rare diseases are children
  • 35% percent of deaths in the first year of life are attributed to rare diseases
  • 30% of children with rare diseases will not live to see their 5th birthday
  • ~50% of rare diseases do not have a specific foundation supporting or researching their rare diseases
  • Only 5% of rare diseases have ANY FDA approved treatment options
Okay, now we have the numbers, so what?
Before I get to the give away your money or talk about it phase, I want to try and tell you what it is like to live in the rare world. It is scary, it is hard, it is time and energy consuming, and often times… seemingly hopeless. This will not be sugarcoated, so skip ahead to the next meme for a jolly good time.
It is going to specialists only to have them say, “that’s just how it is” or “I’m sorry, there is nothing we can do”. It is knowing more about (or even about) your condition than many in the medical fields. It is, unfortunately, getting misdiagnosed, mistreated, or misinformed. It is having your second opinion being google… because there is no one else and you aren’t sure if what the doctor is saying is true or correct or even sane. It is constantly having to be your own advocate, nurse, management team, awareness spokesperson, and cheerleader.  It is weighing being misunderstood or mistreated over getting urgent medical care. It is putting on a smile when all you feel like doing is crying. It is that moment of panic when you have a bad day that you will need help and can’t be all alone. It is being surrounded by people who love and care about you, yet feeling alone. It is making plans with your other rare friend to have a movie marathon but spending the whole time talking about and decompressing about your illness, doctor’s visits, anxieties, and fears. It is carrying a backpack instead of a purse because you need your medications, testing supplies, and toiletries so your mouth doesn’t taste like vomit the rest of your adventure. It is envying people who can say, “oh, I have ____” and not have people say “what?”. It is knowing that if you wound up in the ER and couldn’t communicate and people didn’t have your information… normal treatments could kill you. It is having pre-programmed phrases to spit out to explain your conditions, witty comebacks to counter arrogance, and feeling the need to justify yourself so people understand. It is getting told you could fix your diseases if you prayed harder. Or drank only kale. Or by righting your sins. All from random strangers. Above all, it is isolation and uncertainty.
So what can you do?
  • Spread awareness on social media, not just today…any day
  • Talk about rare diseases
  • Donate to rare disease research
  • Donate to companies working on orphan drugs
  • And last, but certainly not least, know that you are never alone: with our without a rare disease!
Click on picture to learn more or donate!