Physical Therapy

     I have been in and out of physical therapy for about 11 years now. For the first five years, PT for me was limited to various joints after injury and was addressed from an purely reparative orthopedic perspective AKA they were only concerned with one joint at a time and repairing whatever injury I was currently recovering from. While this probably works for most people, with someone with a systemic musculoskeletal disorder, it wound up doing more harm than good. Because I was constantly pushing my joints without knowing it, occurring lots of damage and injuries and just overall having no idea what was going on. After dropping out my freshman year, I stumbled upon amazing PT #1. She was a rehab PT and helped answer the critical question of the time: “why, after years of PT, was I still getting worse?”. It was one of the first times anyone had looked at all of me as a functioning system that needed to be connected. I worked intensely with her for almost two years before she went on maternity leave and her practice switched to out of network. It took me a couple months to find the practice I am at now and I am forever thankful for everyone there, especially Gavin, my PT.
      Younger athlete me would laugh at the seemingly stagnant pace of progress that I operate in now. She would laugh at how simple the exercises were,  how slow they must be done to protect from injury, and how many little things knock me out. When I look back to all the sports, climbs, hikes, and runs I did it is almost as if it is a different person. Now I get high fives for rolling over, standing up without falling or passing out, and walking without assistance. It is almost silly to compare but at the same time, I believe it is important to know where you came from. I am making progress. I am getting stronger. I am working hard. It just looks different now.

        The importance of having a PT that supports you, listens to you, and believes in you CANNOT be understated. For EDSers especially, this isn’t an area you should compromise in, trust me I have seen the damage it can do. Deconditioning, spasticity, injury, depression, general fuckitness. My PT and I have toughed it out through some major obstacles, setbacks, and flares. So heres to you, Sir Gavin the Brave for taking me on as a challenge and helping me learn to protect the function I have left and be patient with my body and mind.  Seriously, I don’t know what I would do without you.

Where’s that Flintstones Chewable Morphine at?

      I know I literally just said I don’t like talking about my pain and now here I am doing a post on pain. I decided I felt like it was an important enough aspect of me and EDS and since I don’t often talk about it, awareness month might be a good time for that. So here goes!

#spoonielife
       I can not remember not being in pain, there may have been times where that has been the case but I thought I was normal until middle school (diagnosis backstory here). Nowadays, most of my chronic pain comes in one or all of the following forms: muscular (spasms, tears, fatigue and irritation from subluxations and dislocations), joint movements (subluxations and dislocations), mostly constant dull all over pain (I’m sure its a sign of being a demi-zebracorn?!), migraines (light sensistivity, eye strain, post-concussive issues, cervical spine subluxations, cerebrospinal fluid blockages, Chiari, position of the earth and sun, stress, lack of “good” sleep), GI pain (digestive tract paralysis, gastroparesis, mast cell activation in gut (MCAD) ), and other. Between allergies, MCAD sensitivities and Long QT Syndrome restrictions the only pain medication I can take is morphine and it gives me a lot of strange symptoms so I avoid it unless absolutely necessary. Pain management in EDS is almost always complicated due to the varying types of pain, comorbid conditions (including other pain disorders such as fibromyalgia), and severity and chronic nature of the pain. Because every case of EDS is different, what works for one might not work for another. I have zebra friends who manage pain with essential oils, some with opiates, some with PT and yoga, some with sheer willpower… everyone is different. 
      As EDS is a mostly invisible illness, people I meet and befriend are often shocked that I am in pain. I have learned to hide it well and have learned exactly how far I can push myself before the pain becomes too bad (though sometimes I totally disregard that knowledge). I really dislike that pain scale but on a good day I usually average a 5-6 and bad days a 8-9.5 for people who that means something to. Even well managed, pain effects your whole body, mind, and life. It does not have to control it, but it is a huge part of it. 
      Another thing I find people have a hard time understanding is the fluctuations or flare ups of chronic illnesses/chronic pain. This runs many into questions like “I saw you walking yesterday…why are you in a wheelchair now?” or “But last week you could unload the dishwasher, I saw you do it…are you just trying to get out of doing it?”. These questions can be prefaced either judgmentally or curiosity but are hard to deal with over and over again, especially on high pain days. Additionally, many of us face invalidation from medical professionals that impact our reactions and instincts, further complicating things. In my experience, leading a comment or question with “I want to understand but I’m confused…” usually gets a better reaction. Pain can be very isolating and can make us say or do things we don’t like. Pain sucks guys. DUH. 
May the forth be with you all and beware of the revenge of the sixth!

It’s that time again! (EDS Awareness Month)

Hello lovelies, in case you didn’t know because you live under a rock and you like it down there, May is Ehlers-Danlos Syndromes (EDS) Awareness Month! Now you know. My hope is to make several (possibilities range from 1-30) posts about various aspects of how EDS effects my life and things that I experience that I might not always talk about or might not always be visible (whooooooo!). But since this is the first post I am going to do a brief re-overview of what EDS is (to see last year’s post for more detail click here). I am not going to touch much on the new classifications/criteria mostly because I don’t quite understand it myself (sorry guys). Links will be throughout for more enticing information!!

What is Ehlers-Danlos Syndromes?

       Ehlers-Danlos Syndromes (EDS) is a group of inherited connective tissue disorders that effect your body’s ability to produce strong collagen. Collagen is essentially the glue that holds your body together and is the most abundant protein in the body. With EDS, your collagen is weak or faulty. There are different types of collagen and each type forms certain types of tissue, bone, organ, muscle, and joint. The different types of EDS are due to mutations on different types of collagen (mostly joints vs mostly vasculature etc). That being said, if you have Vascular EDS you can still have hypermobility issues, it can get very complicated. EDS is a systemic disorder that is much more than just being bendy! Most types of EDS are rare, but hEDS/hypermobility EDS/type 3 is NOT rare and current estimates place its prevalence at around 1 in every 250. That being said, EDS is rarely diagnosed and rarely understood even in many medical circles. Every case of EDS is different, even when in families which can make it hard to diagnose. As my cardiologist says, “if you can’t connect the issues, think connective tissues”!

How is your life with EDS different than your “typical” peers?

        Probably the major ones would be coping with chronic severe pain, having less energy, and having the schedule of an 80 year old (hospital visits, PT, OT, medications galore, pharmacy trips, naps). When I try and explain it to others some go with the “remember that time you got a bad case of the stomach flu, how you felt? yeah it is like that but we spoonies don’t get better” but I don’t really like that. It does a pretty good job on the comprehension level but it further separates us and points out our differences rather than our similarities. I, too, procrastinate on my schoolwork with Netflix. I, too, laugh at memes. I, too, want to graduate from college and have a job. I am not saying we have to ignore our differences but it can be hard enough to fit in when many of your peer groups activities are out of reach for you (sometimes literally haha). I also don’t talk a lot about my pain with others because I don’t want pity. My illnesses are a part of me but they do not define me.

If they discovered a cure tomorrow would you take it?

      This one is hard to explain but probably not. EDS sucks but it is as much a part of me as having red hair is or speaking a bunch of languages. It has shaped me and my direction and made me tough as nails. That being said, if someone came to me with a viable pain medication we might have a different conversation.
I really do hope to post more later…stay tuned!

IDK MY BFF JILL

If you don’t know that reference it is from an 2007 phone commercial. Classic.

Anyways, I wanted to write a post about technology as assistive technology (AT) and more than just soul sucking relationship ruining screens that give you cancer. I will talk about how I use my devices as AT and why they are important for me and because of such, will be talking exclusively about Apple iOS devices because that is what I use. I plan to do another post about iOS as AAC devices and switch access eventually so this isn’t the longest most boring post ever!

I am a die hard Apple fan. I was a die hard Apple fan before I got sick and have fallen even more in love since then. First, I am in no way paid by or speak for Apple or anything, I don’t know why people have to say that but they do so I will! Second, I am not going to talk about Android because I know nothing of Android. I know they do not have as extensive built in accessibility features but they work better for some and that is fine. Lastly, I’m mainly going to be talking about why I choose Apple products as a person with a disability and what features help me or might be of help to those with similar conditions. So leggo my eggo (not paid by them either 😦 )!
First I’m going to talk about some settings/features that aren’t technically accessibility settings (other menus) but that I have found to be helpful. 

Visual Voicemail and Transcription

 

Phone>Voicemail
Apple’s visual voicemail system is one of the most underrated features in my opinion. For people with hearing/auditory processing issues, gone are the days of trying to remember which button to press to repeat the message…giving up and having to call VM all over again because you didn’t quite catch that middle part. New to iOS10 is a beta for automatic voicemail transcription. Now, when you click on a message and press play, the recording plays and an automatic transcription is written below. If it picks up a phone number it will be hyperlinked and a long press will give you options to call, message, or add number to contacts. For someone with Dyslexia this is a god send. I call/text wrong numbers constantly when I try to manually copy them down. Additionally, it is useful for those with hearing loss, auditory processing issues, or even if you want to scan the content in a meeting to know if it is urgent.

Find My Friends/ Location sharing in apps such as messages

At first I was not into having my mom be able to open an app and track my phone but it really has grown on me. This is definitely not the set-up for everyone (could be with someone other than your mom) but in times where I have gotten hauled off to the ER and they leave a VM on her phone saying “Julie’s in the ER”, being able to see which ER, if I am still there, or where I am if I am too confused to figure it out can be super useful. Again, not for everyone. 

SIRI

Siri is great and almighty electronic goddess, obey her.

EMERGENGY HOME SCREEN MEDICAL ID

(to set up) Health App>Medical ID> Edit
At the minimum please put in your organ donor status, name, and emergency contacts. It can be accessed by EMS/ED staff even if you have a lock on your phone. To view access, get to the lock screen with the number panel, click emergency in the bottom left, click medical ID.

ACCESSIBILITY SETTINGS (iPad and iPhone though most are available on laptop just different paths etc)

******There are so many– I’m just going over what I personally use******

Display Accommodations

 

Settings>General>Accessibility> Display Accommodations

 

Another brilliant addition to iOS10 was the Color Filters setting. This allows the user to tint their screen to their liking/need. This is a godsend for anyone with photosensitivity, migraines, color blindness, eye strain, and other vision conditions. It allows me to turn my screen a nice pinky-orangey tint that I would otherwise have to wear my specialty  indoor migraine glasses for. Another feature in this category is Reduce Whitepoint. This setting allows the user to reduce the intensity of bright colors on the screen by 25-100%. No longer need you be blinded by a white screen loading a webpage on ridiculously slow internet.
 

Speech

Settings>General>Accessibility>Speech
I wouldn’t be able to do much of my homework or social media without text-to-speech software due to eye strain, dyslexia, migraines, photosensitivity and reading comprehension issues. This is definitely one of my most undervalued helpers and it wasn’t until I was trying to read a textbook chapter on a different computer that I realize how much I rely on it and am assisted by it.
       Features/Settings:
  • Speak selection: when on, this will give you a “speak” button when you highlight text (next to copy/paste etc)
  • Speak screen: dragging two fingers from the top down will start speaking items on the screen
  • Highlight content: highlights words/sentences/words and sentences as they are read
  • Typing feedback: options to have keys/words/sentences you type to be read back to you
  • Voices: different synthesized voice options for speaker for gender, language, and accent
  • Speaking Rate: how fast the voice talks
  • Pronunciations: tell it how to say certain words like Ehlers-Danlos

Reduce Motion

Settings>General>Accessibility> Reduce Motion
This one is really helpful if you have vision triggered disabilities or just don’t want all the fancy graphics for things like opening and closing apps.

Switch Control and Assistive Touch

Settings>General>Accessibility>Switch Control or Assistive Touch
These are more specialized/complicated but amazing accessibility features I plan to do a separate post or maybe video for but I will just share their purpose now. Switch Control is for people with physical, cognitive, or sensory disabilities who have trouble accessing all or many of their functions or their iDevices via direct selection AKA touching the screen with their hand or a stylus. It is a built in program that allows the device to be controlled and used entirely via 1 or 1 switches. Switches can be the whole screen, head movements, external switches (wired or bluetooth), sip and puff (controlled by mouth movements) and more! For an example of switch access by someone who can do amazing things with it, watch the video! Assistive Touch is basically an accessible menu for people who have physical challenges performing actions like pinching to zoom.

Subtitles and Captioning

Settings>General>Accessibility>Media> Subtitles and Captioning
I actually only recently learned about this feature but if you like subtitles or need them, make sure you have this setting turned on and it will automatically turn on subtitles when available in apps like facebook, netflix, chrome etc.

Accessibility Shortcut

Settings>General>Accessibility> Accessibility Shortcut
Another relatively new feature this one can wear many different hats based on your needs. What is does is set a shortcut on/off switch for a selected accessibility feature by triple clicking the home button. On my phone, this turns on the pinky-orangey tint from my Color Filters settings. Since I only use that at night usually, it saves me a couple clicks turning it on/off everyday. On my iPad, I have it set to turn on Switch Control (more on that later) for when I use that.

Life Hacks: Spoonie Edition

   A friend of mine suggested I write a post about this and I live to please but really not sure how many good ones I can come up with. Eh, should be fun. Life hacks and good products for spoonies in no particular order:

  1. Invest in non-bathing bathing supplies
  • dry shampoo: greasy hair is gross, showering is an olympic sport sometimes and this stuff is the bomb.com. I recommend this brand. Also super great if you’re in the hospital and don’t want to wrap IVs etc
  • wipes: same purpose but for the rest of your body. Also nice to get ones with aloe so you don’t become all dried up. I like these.

2. Keep a to go back stocked in your room/car in case of apocalypse or other unexpected events.

basically if you don’t look like this you
aren’t doing it right
  • change of clothes with warm layered option (don’t forget extra underwear)
  • extra day of meds
  • snack if you eat food
  • flashlight
  • KT tape and medical tape
  • eye mask for sleeping/blocking light
  • wipes
  • long phone charging cord or cord with power bank thingy (can never reach outlets in ERs)
  • carabiners, duct tape and zip ties (1000 uses)
  • water
  • first aid kit

3. Glass water bottles

  • this is kind of a weird one but especially for POTSies, who basically need to constantly drink water to survive, this is a good one
  • why: easier to clean, better for putting ice in, won’t give you cancer or whatever BPA does to you, durable, taste better
  • also recommend getting one with a straw, easier to sip if not upright, and don’t spill as much if you’re a spazz
  • This is the one I have an LOVE! I’ve dropped it hundreds of times and the straw doesn’t require a lot of mouth strength to drink out of (#edsprobs)

4. PillPack

  • Pillpack is a mail order pharmacy that pre sorts and packages all your medications and supplements and ships them directly to you. I have been using them for about a year now and love it!
  • they call your docs for refills for you
  • they accept most major insurance companies
  • pay the same copays as you would for CVS, Walgreens, Safeway etc and that is it
  • great customer support and online portal
  • billing options for credit card automatic/not, FSA/HSA etc
  • medication remind app
  • don’t have to spend time sorting meds (or wrongfully doing so)
  • they do my supplements as well as RX


5. Medical alert bracelets/information

    • I have spent many years searching for the right type and run into the same dilemma often: classic medical alert (chain and metal with star of life) is recognized but limiting due to allergies, lack of engraving space, or constant changing information vs classier ID or EMR (electronic record) system might not be recognized by EMS.
      • NOTE: after many talks with EMS friends countless have said they’re only trained to look at wrists for IDs
    • I have implemented a somewhat overkill system but I think its finally working:

    • I use the MyID system for my EMR/bracelet/wallet card. It can be accessed by anyone with a QR reader, smartphone, computer, or phone. It is paired with an app/website portal that can be updated whenever and offers options to upload files, notify emergency contacts, write explanations of your rare and weird medical conditions and much more. I have found that of all the solutions for bracelets I have tried (flashdrive, traditional, wallet card, necklace), this works best. I also have a MyID wallet card in my wallet, and stickers on my phone case and school ID (like I said, overkill is best)
      • I have this one personalized and on the front is has
        “Medical Alert/ Julie LASTNAME/ “see back ICE for info”
      • Back has the access info, QR code, ID and PIN
    • I also have 3 silicone wristbands that give quick information on the same wrist. I do this because those are important for quick access, they draw attention to the other bracelet, and they paint the picture that I have multiple issues and they should definitely look at my EMR
      • “MAST CELL DISEASE/ I CARRY AN EPI PEN”
      • “LONG QT SYNDROME/ SADS AWARENESS”
      • “MEDICAL ALERT/ EHLERS-DANLOS SYNDROME”
    • BUT WAIT THERE’S MORE! At school, I also have a folder taped in plain sight on my dresser next to my bed labelled “EMERGENCY INFO” (useful for EMS, often gets passed to nurses too)
      • In it I have a copy of my
        • MYID info
        • drivers license
        • insurance card
        • any wishes in regards to my care
        • communication instructions (since if EMS are there I often can’t communicate well verbally

6. Mobility devices ≠ giving up ≠ bad

  • I started off using a cane, which I got from a drugstore, standing in line behind an 80 something year old man buying a cane and wanted to qualify my purchase with something like: “its a birthday present for my grandma…?”. It was one of the first times my disability became frequently visible and took a while before I got used to people’s questions, judgements, and my own stigma associated with it. But the cane wasn’t good for me so I moved to forearm smart crutches which people just assumed I had sprained my ankle or something and left me alone. I hobbled on those for about a year before my shoulders gave out. Then I got my rollator which I like too, but is still hard on my body. For me, transitioning to being a part-time wheelchair user was not very hard. It gave me more independence, less pain, got me places faster, and allowed me more options for bad days. It isn’t all magical though, people still judge or make comments, and there are still plenty of times I would rather just be able to walk or not have to worry about accessibility.
  • Most important lesson I learned in that journey was that I needed to do what I needed for my body, lifestyle, and pain levels. I’m not going to lie and say I don’t care what people think or that I’m somehow above it all, but for me the independence and assistance my chair allows me if definitely worth it.

Flashies: A Saga of the Photosensitive

      Anyone close to me has now acquired an extra sense, the spidey sense of disability (I know, being friends with me comes with some real perks!). For many who don’t have a disability or are exposed to people with disabilities (PWDs) there are MANY things that get picked up by your senses and determined unimportant by your attention and fly under your radar… and therefore most of you never think about this stuff. Today’s post is a rant about all those things you probably never thought about/ thought mattered in hope that someday, somewhere, it will be useful knowledge to you. I’m going to break it down into categories for your organizational pleasure: (or just so you can skip to the stuff you might care about haha) physical accessibility, sensory processing, and photosensitivity/flashing lights.

Physical Accessibility

    This is probably the most on-your-radar one but still very important. First, PSA, if I hear one more person say,  “xyz is accessible except a few steps” I will hulk smash. In terms of physical accessiblity, stairs are a no. Doesn’t matter how many. Just no. Love, every person who uses a mobility device. Just saying… and in case you don’t think this happens… it happens all the time. 
yeah. thanks dave.
     *I know physical accessibility is not limited to just wheelchair users but we would be here forever, so I’m just talking wheelchairs for now*
       Okay, it is Friday night and you want to have some fun. If you use a wheelchair your spidey senses are tingling. Things that go through your head:

  • does that restaurant have stairs?
  • do I remember if their bathroom is accessible?
  • does public transit go there? can my wheelchair fit in Smithy’s car?
  • is the place maneuverable? (particularly small places, clothing store racks are hell)
  • what is the height of the tables?
    Other places:
  • is there a ramp?
  • will I be able to reach things? (shelves in grocery stores, bookstores)
  • will I be able to carry what I buy?
  • can I get there?
(video as a parody response to the Rio Paralympics Promo Video)

Sensory Processing

    Aight so this one most of you probably don’t have as much exposure to, except maybe if you know someone with autism. It is not something you can see, and at least for me personally, not something I talk about a whole lot if ever. There are a whole lot of sensory related issues and often come comorbid to conditions like Autism, EDS, Down Syndrome, Chiari, and Schizophrenia etc. One condition associated with this that I have is called Sensory Processing Disorder (SPD formerly Sensory Integration Disorder) and is very similar to how it sounds. Basically, my brain has trouble processing and evaluating sensory information such as light, touch, sound, taste, proprioception (where your body is in space), vestibular and motor control, etc. I divide it into two stages: input and processing. 
With SPD:
  • sensory information coming in can be converted to extremes (under processing or over processing)
  • people can experience heightened vision but depressed sense of taste
  • can lead to overstimulation which is when all the input from the environment you are in becomes too overwhelming and starts to become incomprehensible 
    • This video does a good job of trying to represent overstimulation (cw: changing lights and sounds) https://www.youtube.com/watch?v=plPNhooUUuc
    • Source (good article on SPD)
    • For me, even having two different people talking at the same time makes it hard for me to understand the person I am talking to and I use a lot of context clues and lip reading to try and help my brain figure it out
  • people can be sensory seeking or sensory avoidant or both
    • sensory seeking is like it sounds, seeking out input that is comforting (weighted blanket, soft fabric, hugs, running water)
    • sensory avoidant is like it sounds, avoiding input that is too extreme or not liked (textures of food, tags on clothing, bright lights, strong perfumes)
  • looks different for everyone
  • things that you don’t notice or can ignore may overwhelm us or we are unable to filter it out  (i.e. buzzing of florescent lights, fans on laptops, tapping of pencils)
    For me, I am extremely sensitive to light (see next section) and have a mix of levels on other senses. I had no idea everyone didn’t see the world like this until I got to college and learned about it in class. It is hard to describe what it is like in writing, but the video comes pretty close. For me places like the movies, grocery stores, classrooms, hospitals and shopping malls are overwhelming due to all the noises, types of lights, tile floors, people, smells, and unpredictability. New places are also anxiety provoking because I don’t know if they will be too overwhelming. 

Flashing Lights/ Photosensitivity

      Flashing lights are everywhere. I guarantee you you can think of some examples, I also guarantee you can’t think of 2/3 of them unless you’ve spent enough time around me. For me, flashing lights (and loud noises and extreme emotions) trigger seizure like episodes (thanks Long QT). For others, flashies can trigger seizures, migraines, fainting spells, nausea, disorientation, and more. Some flashies are unavoidable unless you are Thor (thanks bro for the lighting and thunder combo…really helpful), a movie producer, or a video game designer, but many are/ are able to put less risk in situations for people like me. Fun fact: in video game ratings in America they have to list strobe scenes in the rating but movies, concerts, plays, amusement parks, escape rooms etc do not. 
this bloody scene
For funzies let’s go through some examples of flashies:
  • lightning
  • lightning in movies
  • fire effing alarms (seriously I will come teach you how to make popcorn)
  • camera flashes
  • camera flashes in movies
  • sirens
  • strobe lights in plays, concerts, movies, rides, clubs etc
  • quick scene changes (lumped in because can have same effect)
  • explosions
  • gunfire in movies
  • lightsabers (and lightsabers in movies)
  • damn apple accessiblity feature where the camera light flashes when you get a notification 
  • did I mention camera flashes?
  • 70% of the last 5 Harry Potter movies
So what? Expect me to just have shitty dark pictures of my kid’s birthday in a gloomy restaurant?
Well yeah, if you don’t mind…
RESPECT THESE SIGNS
OR I WILL HAUNT YOU
THE REST OF YOUR LIFE 😉
          Just kidding. As with most of these things, unavoidable is unavoidable. But here’s what you can do: opt to turn your flash off when not needed or try to aim the flash away from randos, ask before taking flash pictures in groups, take a mental picture, don’t burn popcorn, give warnings if you are directing plays, post signs, note time stamps in movies if watching with a sensitive friend so you can warn them, turn off that damn feature unless you need it because your deaf of HoH, and of course, be courteous and aware of your surroundings. It can be awkward and impossible for some to assert themselves in situations like this, so if they do please don’t give them shit. It was probably hard for them to do. 
Phew. You better feel more edjamakated now. Julie out.

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!