Dear Medical Professionals

I want you to know your dedication, passion, and intelligence doesn’t go unnoticed. As a disabled young adult with complex conditions, I have had more interaction with you than my peers, my parents, and their parents. My life has been saved by you and your peers countless times and your knowledge, compassion, and care has given me the opportunity for a life outside of the hospital. For that and many other reasons I am grateful. In the many hours of I have spent interacting with all of you, I feel as though I get to know many of you well. From that, as well as my experience working in the medical field, I write to you this post in hopes that you hear me, the me that is uneffected by my social anxiety, acute medical condition, or time. I hope that some perspective is gained from this but at the very least I hope you read it and know that I am still here with the same appreciation for who you are and what you do.

I have several complex medical conditions, many which lack education and understanding within the medical community and some which are vague/hidden enough that by their clinical presentation could be any number of things. I have issues that present “atypically” “weird” or “just don’t fit” with the models you were trained on. It is very annoying by the way. I have been misdiagnosed, mistreated, and misinterpreted more times than I can count. (For a great article on that, read this!) I am thankful that over time, more knowledge and direction has come my way and we now have a decent understanding of what is “wrong” with me (though of course there are still plenty of mysteries). Due to my experiences, I struggle in how to approach new providers. Yes, I have anxiety but this is more than that. Ultimately, with each new interaction the thought that runs through my head, and many of my chronically ill friend’s heads, is how do I need to act/present things to be taken seriously but not be flagged as crazy, too knowledgable (yes, unfortunately thats a thing), or disrespectful of the professionals knowledge/training. Interacting with you comes in two forms for me, voluntary or involuntary (emergency situations) but both come automatically come with the same calculations.

How do I explain that my dystonia might not look like primary dystonia, because it’s not, but is caused by mast cell activation in the brain possibly tied with my connective tissue disorder also maybe my autonomic dysfunction and we can’t really test any of those to confirm them but this is not a new problem and from many months of trial and error we have found that treating it with xyz is most effective even though that contradicts the treatment for primary dystonia but yes, I know this its just not primary dystonia and I can’t prove it and I can’t show it to you but I have world renowned specialists helping me navigate this impossible situation and I don’t want it to seem like I am trying to undermine your knowledge and experience as a doctor but also know that it is likely your training and experience didn’t cover this because the human body is so complex and more and more diseases and processes are being discovered every day so how on earth could we train humans to know all that and be able to draw upon it at a moments notice in order to treat a patient quickly, safely and effectively?

In my mind, I try to judge who is open to the fact that they can be a great doctor and not know everything and that, in cases where people have weird, rare, or complex issues, your knowledge base might not cover what is needed to help that person and that is okay. I try and judge who might see my medical knowledge from starting nursing school, working in the medical field in many settings, managing my conditions, and just an interest as something negative or as a red flag for attention seeking, faking, or crazy. I try and judge if they might be able to see me beyond what I look like in that moment. I try and judge who might be having a bad day so that I can modulate myself as much as possible to make that day less bad. I try and judge who might get my sarcastic, dark sense of humor and who I need to be literal with. I try and judge how you will react when you get a test result back that is normal, even though things are clearly not normal. I try and judge who is reading this and thinking man, she is super anxious (yes, yes I am) or man, which doctor screwed her over that gave her this chip on her shoulder. It may suprise you that who I am today and how I approach this has been shaped by hundreds of experiences — good and bad — over more than 10 years of being sick.

I want you to know that I understand what its like to be in a stressful job where there are patterns to patient behavior. There are frequent flyers, red flags, abusers of the system. I can’t imagine how hard it would be to, especially in a setting like a emergency department, parse out who the abusers are and who aren’t. I know, especially if you’ve read this far, you care about your patients and do not want to do harm. I know the pressure to make the right decision is high and that is really hard. I hope that by sharing some of the things I got through, often before I even see you, it may help you understand patients like me.

-Your chronically ill patient

It’s 2020 Y’all

Wow it has been a hot minute since I posted, writers block merged to flare which merged to a new job which merged into the worst flare yet which brings us to the land of rehab and falling through cracks because you’re diagnosed with weird illnesses. One of the things that can be extraordinarily tricky to navigate when you have rare/non big name disorders is the fact that you often don’t fall into a particular category, track, or program that will help you when you need it.

While some of my conditions have established organizations, few to none are large enough or have enough resources to help patients directly to navigate the system and you’re unlikely to be flagged by a hospital or government organization as qualifying for certain services/help. For example, many people who go from ambulatory to full time wheelchair user are those with spinal cord injuries. Starting a few days after your injury you are connected with case managers, support groups, rehab options, durable medical equipment suppliers, OTs, PTs, ATPs, organizations, and more. There are programs dedicated to these types of injuries which experienced professionals, community-based supports, and even charitable organizations (which is fantastic!). Similar types of “tracks” can be found for traumatic brain injuries, MS, ALS, cerebral palsy, strokes, memory loss, amputation, and more.

Dos Equis Meme: "I don't always get sick but when I do, I get some shit no one has heard of" — “I don’t always get sick but when I do, I get some shit no one has heard of”

But what if you are facing similar types of situations/symptoms as the aforementioned but because of a rare disease? Who is there to guide you through that? Will you qualify for the same type of rehabilitation, supports, and guidance? How can you make the transition from your previous life of being sick but mainly independent to needing help, rehab, equipment, home modifications, or vehicle modifications? Where can you find information, resources, and options?

While I have used a wheelchair in college and for long distances/flares previously, it has been nearly 3 years since I have needed it more than a day. Prior to November 2019 I was working, rock climbing, walking and fairly independent. I wasn’t without significant health challenges but was fairly well managed. I was admitted in the beginning of November following a dystonic storm that sent me to the ER. Due to a variety of factors, I continued to decline in the hospital. By the time I was discharged I was unable to exert myself physically without going into full body dystonia, could not walk or stand for long unassisted, and took a major hit in the categories of coordination, balance, proprioception, and motor planning. Oh, and being in the hospital is just making it all worse so avoid that. Consensus was reached that I needed to be transferred to an inpatient physical rehabilitation program to retrain my body how to walk. Sounded like a good plan. Ha.

Immediately we were hit with barriers- many inpatient rehab centers require at least 3 hours of daily therapies, something my fragile little ecosystem definitely couldn’t handle. Additionally, it seemed uncertain whether the centers would be able to manage full blown dystonic storms or if they would send me right back to the hospital. Lastly, there was the issue of their ability to manage my medications, allergies, and reactions. So we tabled that thought and started trying to get me home with home health, PT, OT, and Speech. Sounded like a solid plan. Clearly we did not yet have 2020 vision. Ha.Ha.

So we spent a month or so getting creative at home with home PT. But we had to work with what we had, and all we really had was a gait belt and some therabands. We made calls looking for a day rehab programs that I would qualify for based on word of mouth suggestions, internet searches and home care recommendations. We essentially found nothing. And this was not because there was a lack of programs, but each program had an if and or but attached to it. So we pivoted yet again towards finding an outpatient PT center that would handle me. My previous PT is amazing but they were not a rehab center and lacked the equipment and staffing needed. Finally we stumbled upon a place that would see me, deal with complex patients and had some experience in the rehab world. The major downfall being that we would be constrained to the typical PT schedule: 1-3 times a week and 30-60 minute time periods but we are making it work. Thank god for the internet.

PT: check.
Now all that’s left is: figure out what is wrong with me, fix wheelchair, make 2 story house wheelchair accessible, stay out of the hospital, completely reorganize room, figure out transportation, schedule follow ups, find specialists, research, relearn how to walk, keep all my other conditions in check to avoid hospitals, try not to get the flu from these germballs walking around (PSA get your flu shot) and figure out what to do with my life now.

I would say in the past couple months I have interacted with over 50 medical professions, therapists, and service providers just to take care of the immediate needs. Doctors, NPs, pharmacists, nurses, PTs, OTs, ATPs, stairlift specialists, electricians, mobility specialists, DMEs, insurance, ramp builders, hospital bed suppliers, adapted driving/vehicle specialists, and more! It is complicated and exhausting and I consider myself to be a professional patient!

I can’t help but think about the barriers I faced and wonder how anyone manages to deal with all this. I have several benefits: good insurance, full command of the English language, a good medical knowledge, connections in the medical and rehab communities, internet access, communication skills, time management skills, organizational skills, financial assets, and many more attributes that have made this process easier for me that so many do not have. I have managed to fumble my way through the system and achieve a relatively decent outcome. Rare disease diagnosis should not translate to lack of support and options. These cracks in the system should not be so wide and so deep that the minute you step outside a few pre-drawn paths, you shit outta luck.

We need more advocates. We need broader reaching support for patients with complex and high need patients. We shouldn’t have to find all our own solutions, treatment options, and services. We need more help.

That’s all for now, hopefully I will come up with some post ideas and be posting more frequently. Feel free to comment or let me know if you have any ideas, I will be doing a post about accessible vehicles in the next couple weeks but after that I got nothing.

My Truths: Yammerings of a newly 24 year old

Disclaimer: This is not a J.K. Rowling post. I have no idea how it ends writing it now. It may make no sense ¯\_(ツ)_/¯. This is basically just a list of some random thoughts.

I believe you can accept and love yourself and still want to change parts of yourself.
I believe the ability to adapt is crucial to finding happiness.
I believe that differences are necessary for society.
I believe that artists and musicians do more for the greater mental health of our stress ball of a society than we give them credit and resources to do.
I believe we can all benefit from giving more people the benefit of doubt.
I believe that vulnerability is critical to human connection.
I believe that there are times to push and times to rest in life and that finding the perfect balance may be impossible but we shouldn’t stop trying.
I believe that sickness can be a big, important part of your life and still not define you.

Feeding Tube Awareness

February 4-8th was Feeding Tube Awareness Week. This post will be mostly about types of feeding tubes and feeding as well as some possible reasons why someone might use a feeding tube as I have found few people actually know much about tubes. Ideally, I will also be creating posts about tips and tricks for living with a feeding tube and my experience as a young adult who uses a feeding tube. *lol I tried to get it done on the actual week*

Types of Feeding Tubes

Nasal Tubes

The two main types of nasal (up the nose) tubes are nasogastric (NG) and nasojejunal (NJ) tubes. These are thin, flexible tubes that are inserted through the nose. Both tubes are primarily for temporary and trial use and can often look similar from the outside. The main difference between these two tubes is where they go inside the body. These tubes can be left for 2-6 weeks per tube.

NG tubes are tubes that are inserted through the nose, go down your throat, and end in your stomach. These tubes are common inpatient and outpatient for acute needs or for temporary trialing of tube feeds, however, some patients chose to use NG tubes long term as (with training) they can be inserted and removed at home and therefore can only be on their face while feeding (usually at night in those cases)

NJ tubes are tubes that are inserted through the nose, go down your throat, through your stomach and the first part of your small intestine and into your jejunum. These tubes are less common and need to be inserted by a doctor with imaging to guide the tube into the right place. Many patients have NJ tubes if they have significant vomiting, have an improperly functioning stomach, or cannot tolerate feeding into their stomachs.

Surgical Tubes

There are three main types of surgically (or endoscopically) placed feeding tubes: gastrostomy (G tube), jejunostomy (J/ “straight J” tube), and a gastrojejunostomy (GJ tube). While these are considered more permanent tubes, they can be removed if the tube is no longer needed. These tubes are placed by creating a stoma, or opening that allows the tube to connect to the stomach or intestine, essentially it is an extreme body piercing.

Low profile G tube on left, traditional g tube on right

Within these options there are also some differentiations based on the type of tubing and the securement device. Options vary from traditional tube (aka danglers) to low-profile tubes that sit more flush with the skin. Tubes can also vary in how they are held in place on the inside: balloon (filled with water), a hard bumper, or a capsule shaped bumper. Most tubes need to be changed out every couple of months but some can be changed out at home by the user!

That girl has a feeding tube but just ate some cookies! They must not need the tube!

There are many different reasons why someone may need a feeding tube. Some people are able to eat and drink and still needing a feeding tube. This can happen either because they have a very restricted or unreliable diet/food tolerance or because they cannot eat or drink enough to sustain themselves purely on oral intake. Some people can eat, but it makes them very sick and so they only eat on special occasions, however there are plenty of people with feeding tubes who cannot eat or drink at all (NPO). Whether someone can or can’t eat orally does not correlate to how much they need a feeding tube or how sick they are!

What are some reasons someone needs a feeding tube?

There are countless diagnoses that may require a feeding tube such as dysphagia, cancer, gastroparesis, mast cell disorder, IBD, spinal cord injury, muscular dystrophy, ALS, MS, and many many more! Generally, people who need feeding tubes either: have difficulty swallowing, difficulty digesting/absorbing their food, have risk for aspiration (breathing food into lungs), cannot chew, have multiple food allergies, or have a gastrointestinal disorder that impairs their digestive tract.

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!

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!