Rare Disease Day


According to Rare Disease Day Organization:

“A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.”

There are over 7000 rare diseases, which make rare disease not that uncommon. Many of my friends have rare diseases: Ehlers Danlos Syndrome, Hashimotos, Friedreich’s ataxia, Pediatric Crohn’s Disease, and many many more.

Two of my friends have offered words on their rare diseases.

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Ashley Coyle 

“Having Hashitmoto’s and Living with It”

“I’ll be honest, I didn’t think my Hashimoto’s Thyroiditis counted as a rare disease until it was pointed out to me that it was. I don’t think very much of my Hashimoto’s since so many of my friends have all of these health conditions that, in my mind, are much worse than mine. Friends who have had to have surgery, take more medicine than me, etc. I’ve had to learn to stop comparing myself to them.

You see, my condition means I have to take a hormone replacement pill for the rest of my life. It also means I’m going to have to constantly get bloodwork done. I don’t sleep well, am fatigued a lot, am very sensitive to cold and have a compromised immune system. In addition to the Hashimoto’s, I have generalized anxiety. I have severe panic attacks. Having to call the doctor to make my own appointments might be one of the worst things about being an adult.

I’ve faced a lot of people telling me I can’t be that sick since they can’t see my illness. It doesn’t mean it isn’t there. I struggle with it every day. Missing work because my immune system is compromised and I get sick a lot. I’ve missed so much work that I can’t call in absent without the risk if getting fired at this.

And school? I missed so much school there were talks of holding me back. I wasn’t diagnosed until I got out of high school, but I was feeling the effects. The constant fatigue, getting sick, having severe anxiety attacks. I had to get sent home one day because I was having such a bad panic attack.

There are times where I don’t get to do a lot of the fun things I want to because of my illness. Missing Amtgard because it’s too cold, missing playing D&D with friends because I’m so tired after work I simply cannot keep my eyes open. And people judging me because I’m missing things. It’s not that I don’t want to do them, it’s that I feel like I can’t. Not to mention the times where the idea of having to go be social makes me anxious. I simply don’t want to be around people and have to make up excuses because “I’m not feeling very social today” is not a good enough reason to bail out, even though it should be valid.

Because of my anxiety I am 23 years old and still don’t have my license. I have too many panic attacks in cars from car accidents. This means I have rely on either friends or cabs to get to and from work.

I feel like a burden. I feel like I burden my friends because I need help getting places since I don’t drive. I feel like I burden my boyfriend since he has to go to the store to get things for me on days where I have no energy whatsoever to even move. I feel like I burden my family since they are constantly worried about me and my health. Since I can’t go visit them because they’re three hours away and I can’t drive. I hate feeling like a burden on people, especially since I have no control over it.

I want to feel like a whole person, instead of a shell.

Thankfully, I have friends and family who support me wholly. I’m sure none of them consider me a burden. Sometimes, the best thing you can have is a support network to listen and support you on your bad days, and celebrate with you on the good.

So my advice for those living with a rare disease is to find that support network. My advice for those who know someone with a disease, is to be that support network. Be supportive, listen to them, and don’t judge. You don’t know what they’re going through.”

Ashley is a good friend of mine from, Amtgard, a LARP we both partake in. Another good friend of mine I LARPed with offered his words as well.

Martin Capasse gave a few words on his experience with Stephen Johnson Syndrome saying, “Stephen Johnsons Syndrome is a rare medical disease where your immune system attacks itself and sends your system into shock. Everyday movement becomes super labored. Like, getting out of bed is really really hard. Your skin comes off in sloughs. Your eyes are so sensitive to sunlight that you can’t go outside, or even turn on the lights. Sores are down your throat, so you can’t swallow properly. The only thing you can really eat is ice-cream, which comes back up a little bit later. Those same sores are in your ear canals. Hearing becomes a problem. Life is terrible and you sleep roughly 15-20 hours a day. I would only know all that because I had this disease for almost 2 weeks of my life. When medical doctors fought with my mother all two weeks, she only heard about the disease from a friend. When it came down to it, I was told to go to El Paso, specifically William Beaumont Hospital, where I was given 3 days to live after the diagnosis, had I not come in before hand.

If I had to say anything about that disease, I would probably have this to say: “Trust yourself. If you feel sick, do your research. Don’t let a doctor bully you into thinking your less sick than you are now. If you think you have something, push to have yourself tested. I almost died due to horrible medical doctors who were treating symptoms.”
My experience with pediatric Crohn’s I’ve already talked about plenty, this week will be dedicated to others with rare diseases who wish to speak out and raise awareness.
If you would like to submit your story or experience this week, you can send me approximately 500 word submission with or without a photo to my email: gshockey@wvup.edu 
Thank you!

ER Issues

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The thing with chronic illnesses is you can feel perfectly fine one minute and the next be in so much pain you need to go to the ER. In case you haven’t guessed, that’s what has happened today.

Originally, I felt fine. Tired and stressed, as per normal for any college student I feel, I suspected a UTI due to the feeling of urgency to go urinate but not having much out put.

I took an Azo and was going to continue about my day, I decided I needed a bath because my hair was looking a bit greasy and so I went and started my bath. As I sat in the water and was about to grab the shampoo bottle, I felt a sharp stab in the lower left side of my body. I assumed it was most likely a kidney infection caused by the UTI.

I got out of the tub and had my grandma bring me something for the pain, I laid in the floor for a few minutes after taking it to attempt to sit back up. Immediately upon sitting up I threw up. After the first time, it seemed to stop so I made my way to the couch before I started continuously throwing up again. At this point the pain had reached the point where I did not want to move and all I could think about was the nausea and pain. This is what I consider about a 6 on the pain scale.

My mom came over and off to the ER we went. They took me back quickly and had me get a urine sample since I explained it was likely a kidney infection of some kind. They said it was odd to have kidney pain in the front and thought it might be something else, so they started an IV and got labwork. They said they would give me a dose of zofran and tylenol.

image1 (26) After the dose of zofran I proceeded to throw up more. At this point it was just stomach acid. They gave me more tylenol as the pain got worse and finally decided to give me a phenergan shot and send me home because my labwork came back normal so they had no reason to believe anything else could be wrong. The nurse said it was probably my gastroparesis causing it.

It can be extremely frustrating to be in pain and not know why, and even more frustrating to be in an ER where your symptoms are often written off. I know many chronically ill people have bad experiences in ERs due to this.

The pain and nausea have seemingly lessened up with no answer as to why. I’m just happy the pain is no longer as bad as it was.

Anxiety, Depression, and Retail? Oh My! by Becca Smith

Becca Smith

Psychiatric disorders, the silent disability. No one talks about it, and certainly no one calls it a disability. When asked, most people just think depression is chronic sadness and anxiety is just shyness, but that is not the case. For many people who have multiple disorders, just living their daily life can be hellish, now include a customer service job? It becomes almost unbearable.

I myself have Social Anxiety and Bipolar disorder. As I’m sure you can imagine, having Social Anxiety in a job where you have to talk to angry customers and coworkers don’t care about anything is not fun. The BPD is the easy part. Which is to say, the less difficult one. Yes, you have no energy, and you’re on autopilot for most of the day. The hard days are the ones where you have no motivation to do anything, let alone your job.

So you go into work with a shirt that stinks from not being washed and old perfume. You hope your glasses cover the smeared eye makeup you still have on from last time you worked which was… three days ago? And it’s hard. People just think you don’t care, or that you’re lazy. You call in “sick” about once a week because you just can’t be at work, can’t be around people.

Now the anxiety? That’s the worst part. “I’m sorry, sir, that warranty is a one-year warranty and you bought that in 2006” and the inevitable backlash, and the always terrifying “I want to speak with a manager” So you call for a manager and they tell them what you told them and leave angrily anyway. I am a generally bubbly person. When I’m not swimming in depression I like talking to people and socializing… to an extent. But every day, watching people come and go like leaves in the wind, briefly for a moment judging me, seeing my failure, never knowing what I’m actually like, only knowing my fake smile and company policy, it enrages me. I hated so much that so many people only got a fleeting glimpse of me.

And Black Friday? Forget about it. Waves upon waves of people, flushing down the aisles of the store. No time for my spiel about credit cards, no time to make sure they were satisfied. No time. No one had time to have a decent conversation like I would normally have with a customer. Every moment more fleeting than the last, more desperate… It was agony.

But more so than just the regular anxiety, the panic attacks at work are disabling. Picture this: standing alone in the cash wrap, closing shift, Friday night. Someone comes in with a shopping cart full of clothes and a troop of screaming tired children just ten minutes before clothes. Normally, I could handle it, but I was tired too, I hadn’t eaten all day (because of the depression) She seemed to have a million questions to ask me and I couldn’t speak. It felt like I had a noose around my neck, and the overwhelming feeling that SOMETHING WAS WRONG. WRONG. Wrong… wrong? What’s wrong? It’s a normal night, all the drawers are counted except the one you’re using. You have a ride home, your keys, food in the fridge ready for dinner, but dammit, something’s WRONG and you have no clue what it is.

And it’s not like you can just leave. You don’t have another break this shift, and even if you did, no one can relieve you, and it’s almost closing time anyway. And everyone notices. They see you shake. The see the too tight smile and the darkness in your eyes. Your co-workers ask if you’re okay, like they care. They offer to go tell a manager that you need to be relieved, but it’s Christmas and they can’t let you go. So you sit and pretend everything is fine and you don’t talk about it.

Trying to work with an invisible disorder is hard, but the most challenging thing is admitting to yourself that your disability makes working near impossible. Admitting to yourself, not only that you need the help, but that you deserve it. Mental disorders such as severe depression and anxiety are both things that can make one qualify for a disability check from the government. But you think about all the people who deserve it more than you. The people who are fighting cancer, or AIDS or are missing limbs. I think about my mother, whose autoimmune disorder has been eating her body alive for the past three decades. I think about my best friend, playing guitar while missing a hand.

I think about how strong they are and about how they don’t need help sustaining themselves and I feel so weak. But it’s not about them. It’s not about how strong anyone else is. It’s about you, and if whatever you are struggling with keeps you from being able to make a living without hurting yourself, don’t be afraid to ask for help. Government assistance and therapy are there because people need it, so utilize your resources, talk to people, and don’t forget that you are still alive, still moving, and still going forward. As long as you keep fighting, it’ll stay that way.

How I Handle Questions About My Illnesses

There are many days I go out without my cane or braces. There are two reasons for that, maybe I’m having a decent pain day or because I get tired of the questions and stares I get regarding my mobility aid. I had the same issue with my NG tube, although I couldn’t exactly chose not to use it on days when I was feeling insecure.

Despite what many people think, I don’t use the cane for sympathy or attention, I use it because it really does help with my balance and pain. Most people don’t acknowledge that I am always in pain, and when I’m in a happy smiling mood, I can understand why it would make sense for them to not think I’m in pain. Despite my smile or makeup my pain is always there but I’ve adjusted to the point where unless the pain gets so bad I’m curled up in a ball or crying, I can usually manage to keep a straight face.

Even now though I could describe all the pain in my body at different parts, between the throbbing in my joints, the pressure building up behind my eyes, my stomach with a stabbing type pain, the strain in my back, and the feeling of bricks on my shoulders, These are everyday pains for me that I have adjusted with. Admittedly the pain gets easier to deal with when I wear my braces on my wrist or hip but despite my best ability to seem confident in myself and in the things I use to make my life easier, there are still days when I would give anything to be pain free and feel normal.

Especially when people approach me with questions or comments. For the most part they are people my age who don’t understand why at a young age I have these issues, very seldom do older adults make any sort of comment though some do side eye, others include small children who often didn’t understand why I had something sticking out of my nose. The curiosity of children I understand, though the hushing of their parents makes me feel like I was something they shouldn’t look. I understand because it’s impolite to stare and personally eye contact makes me anxious but they’re children, they don’t know any better.

The comments that are usually the most troublesome come from my peers and people my own age, some are polite and just out of concern such as, “Did you hurt yourself?”, others are not as polite such as “What’s up with that cane, crip?” One of the things I’ve heard while at the college. Or having people ask what’s on my side and then I will explain my ileostomy and they just go “Ew gross.” With my NG tube people tended to go about that a lot more rudely, instead of just politely asking what is the tube in my nose, it was often with a different tone and more often like, “What’s up with that thing sticking out on your face?”

I never really put much thought into how the questions were asked or why, I simply focused on educating people, “Oh no, I didn’t hurt myself. I have a syndrome that causes lots of joint pain and subluxations and dislocations.” “My ostomy isn’t gross, it’s actually helped me a lot. Many people have ostomies, and the stigma can be very hurtful to everyone with ostomies.” “My NG tube is a nasal-gastric tube, it’s inserted through my nose and into my stomach, it’s how I get nutrition.” “My braces are used to stabilize my joints so that I can do more with less pain.”

I always focused on education, regardless of if the comment was cruel, although there were times I would’ve liked to snap.

With some people you can sense the hesitation when they ask, like they know they don’t want to offend you but they are curious, which is understandable because I think it is in human nature to be curious about the world and people around you. While the comments of some can be very frustrating, and the stares can be off putting, I am constantly working to overcome my own insecurity and the ableism of others so that I can try to live a more comfortable life for myself.

Regardless of the questions asked, I will always do my best to educate others and spread awareness for the sake of everyone else out there who is afraid to pick up a cane to help themselves or open up about their illness or deal with these questions and don’t want to talk about them.


Tubie Friends

“Tubie Friends a non-profit group that is administered by two mothers whose children have feeding tubes and want to use their experience to make life easier for the thousands of children relying on feeding tubes for their nutrition. Tubie Friend Surgeons (TFS) are volunteers who care for or love tube feeders and donate their time and resources. Many of us are still in the trenches with you, which means that sometimes our kids have surgeries, procedures, tests, or hospital stays that takes our time away from Tubie Friends applications and processing. ” (Source)

When I first got my NG tube I was really awkward and afraid to go out in public because I was afraid people would stare or make comments or point. On this day a year ago, I got an amazing gift from my mom via TubieFriends.

It was great, even at 17 years old, I still loved stuffed animals as comfort animals. It made me feel better to have my cuddly bunny that looked just like I did. Not to mention I realized just how great this could be especially for little children with feeding tubes who never get any representation. I wasn’t the only one.

I met my friend Ari, online anyway, via our multiple chronic illnesses. She also had a Tubie Friend and actually was fundraising with her group for Tubie Friends so that they could supply free Tubie Friends for children!

Ari, being admitted in the hospital again today, made a post about the importance of Tubie Friends and how you can support them, “I’m getting admitted but there’s no rooms available for awhile so I’m stuck in the ER for now I’ll update later on with details. But because it’s 4:29 am and I need a distraction why not do a little informational photo set with my Tubie Friend showing how awesome this organization is! I don’t care how old you are, stuffed animals are a huge comfort to anyone of any age. Especially special stuffed animals like mine who matches my tubes 😀 Her name is Spoonful (based off
of the spoon theory) and she accompanies me to every hospital stay, procedure, surgery, ambulance ride, scary nights in the ICU and so on. #TubieFriends is an amazing non profit organization providing custom build a bears to children and adults with special needs and medical conditions. They’re run solely off of donations and amazing volunteers. My cosplay group and I got the honor of raising around $1,400 for them and hope to do another fundraiser in the future. I can’t thank them enough for the comfort they have provided me simply by a stuffed bunny. Go check their facebook out atwww.facebook.com/TubieFriends
If interested in getting a tubie friend yourself head on over to their lovely website to fill out an application www.tubiefriends.com

Ari and I have become amazing friends despite living across the country from each other. She lives in Texas, I live in West Virginia. My goal is to eventually save up the money to go and meet her. We skype on occasion, or stay up until 4 a.m. on the phone, and send each other care packages back and forth to cheer each other since it can be emotionally stressful to constantly be sick.

She’s the best friend a girl could ask for, and it’s thanks to companies like Tubie Friends and social media that we met, and will eventually meet one day face to face!

Make sure to check out Tubie Friends online and donate if you can! They make a world of difference for people of all ages!

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My best friend and I Skyping. 🙂


Getting A Diagnosis

image1 (20)A lot of people are against self diagnosis, saying you have an illness if you haven’t been formally diagnosed by a doctor, I won’t get into the pros and cons of it. I am for the most part in favor of self diagnosis, if they also take the steps afterwards to get the official diagnosis because what may look like one thing could be something else, not to mention there are some people who would get a bout of food poisoning and jump straight to “I think I have IBD.” So again, there are pros and cons.

My GI assumed my joint pain was caused by arthritis related to my Crohn’s since RA is very common with Crohn’s disease, even went and put me on Celebrex. When I went to my rheumatologist, he was appalled by the fact my GI had started me on arthritis medication without getting me evaluated by a rheumatologist, turns out I had no symptoms of RA and instead it was most likely due to the hyper mobility of my joints which when I said I experienced constant pain and sometimes had extremely sharp pain with popping, he said that was caused by my joints subluxing and dislocating. He asked if I ever went to the doctor to get things put back into place. I told him no, usually I could move around in weird ways and I’d hear a pop, have some pain but then feel better. He said that was most likely dislocations and he noticed my hip was out of place and put that back in for me.

The point of it is, I never suspected JHS/EDS because the symptoms of pain and some swelling were relatively the same. Lots of disorders share similar symptoms.

If you are having symptoms, it can help to research, gather up info on different things that could be causing it, and talk about it with your doctors. Don’t feel guilty for wanting to have answers or a diagnosis, it can be frustrating to not have an answer as to why something has happened, and with many people being against self diagnosis it can be hard to find support and places of discussion without a formal diagnosis due to this. Not to mention, while self diagnosing may help you find people who relate, it cannot help with treatment. You cannot prescribe yourself medication or therapy, which is why having a doctor diagnose is best, but again, that doesn’t mean you can’t do your own research and work with your doctor to help find the root of the cause.

Again, the big debate against whether self diagnosis is okay or isn’t okay is far too complex for me to cover in a simple post. This is about doing the research and talking with your doctor to get official diagnosed.

The main thing to do is to list your symptoms or current conditions, start looking up your symptoms, if you have matching symptoms with a few different things than you need to look for eliminating symptoms. In the example of RA versus JHS/EDS: RA causes pain, swelling, and stiffness. JHS/EDS also causes pain but typically not swelling and stiffness so if you aren’t experiencing the symptoms of swelling and stiffness you may be able to cross of RA. Ultimately you can come up with some ideas as to what might be the problem and then present that to your doctor.

I never would’ve expected my doctor to to seriously consider EDS for me, but after extensive research and looking into family history, it really seemed to fit, and when I brought it up to my doctors, they agreed. While many doctors are against google, it goes to say that research can never hurt. My doctors never would’ve even thought to connect the dots of my illnesses to a connective tissue disorder had it not been for my own questions and research.

Never be afraid to speak up to your doctor about your beliefs and concerns, you never know what you might think of that they haven’t. Two minds are better than one. Just make sure to do your research. Keep a notebook. Stay determined.




How to be a Friend to Someone Who’s Sick

I think a big struggle of being sick is finding friends who are understanding and willing to stick around when things get rough, but I know the struggle goes both ways.

When someone you care about is chronically ill, it might be hard to know what to say or what to do or what to expect. So from the perspective of someone who is chronically ill and has chronically ill friends, I understand it can be hard.

I think the first important step is educating yourself, it can be exhausting to have to repeatedly explain your illness to your friends. Whether it is explaining my Crohn’s and how it works and how it effects me, to why I can’t eat much due to my gastroparesis, to why I use a cane for my joint hypermobility. But I completely understand that it can be really hard to remember how each thing effects an individual. In cases like this, google can be a tool for you and your best friend. If your friend talks about something regarding medical that you don’t understand, google it first and then ask questions. This way you can try to understand on your own and your friend can fill in the gaps of what you don’t know, this saves us energy.

Also, do not be afraid to ask questions to get a better understanding of what they are going through, so long as they are comfortable with answering, if they don’t want to talk about it, move on to a new topic.

Find hobbies that you guys can do together that do not require much energy or effort. Some of my go to’s with friends are watching Netflix, doing our nails or doing facials, occasionally we will bake or go out if I have more energy that day. Just ask, “Hey what are you feeling up to doing today? Stay in or go out?” Try to be understanding if they are not feeling up to doing anything, in which case sometimes just coming over to keep them company, even if it’s just laying in bed or on the couch with blankets and PJs on can even help because it helps you to not feel alone.

Remember to communicate with them your concerns as well, it can be hard to know what to say so if you are worried about saying the wrong things then just let them know and if they get upset about something you say, live and learn. Eventually you will get a rhythm down.

Don’t be afraid to talk about your life and your problems as well because friendship should go both ways. It can be hard to find a balance because it’s different for everyone but just like any relationship or friendship: communication is key.

Other tips for being a good friend for someone who’s chronically ill are:

  • Let them vent
  • Try not to get upset with them for their limitations.
  • If it has been a while since you guys have talked just shoot them a message to let them know you haven’t forgotten about them.
  • Don’t abandon them during hard times.
  • If you can go to the hospital to visit them if they are there for long periods of time.
  • Try to keep things light hearted unless your friend needs to be serious for a while.
  • Offer to help your friend with things from time to time.
  • Advocate for them and help support them and raise awareness.

Some things you should avoid are:

  • Do not abandon your friend when you find out they are sick.
  • Avoid jokes about their illnesses, unless they are comfortable with it.
  • Don’t compare your issues to their issues. It’s not a competition and everyone suffers differently. The time you got food poisoning doesn’t mean much in comparison to their chronic digestive issues.
  • Don’t tell them to suck it up or that others have it worse.
  • Don’t get onto them for complaining, because it is hard to not complain when you are constantly feeling awful.
  • Try to avoid telling your friend how they should feel on a matter. They may get a good test result and be upset because despite the good test results, there isn’t an answer for why they still feel awful so they are upset. Don’t tell them they should be happy they couldn’t find anything.
  • Avoid Dr. Oz or Facebook cure all remedies, weird herbal supplements, yoga, witchcraft rituals, etc. Chances are whatever it is, it probably will not help more than what the doctor proscribes.
  • Don’t say, “God will heal you.” Because that’s not how any of this works. And that may not fall under their religious preferences.
  • Never downplay their feelings or insinuate that they are faking their illness.

It takes time to adjust, so don’t feel bad if you’ve done these things in the past, or if you slip up every once in a while, because nobody is perfect. Again, communication is key. It can be really hard to be chronically ill, having a great friend for support and companionship can make all the difference.