Rare Disease Day: our question marks

The Lengthy Shadow of Rare Disease:

Our lives grow beneath the shadows of question marks. For many, those questions are little more than unobstructed shade; for others, they’re a foreboding storm. I am one of the others’.

As we get older, and we pass from one life-stage to the next, those questions change: am I a good student? Am I attractive? Will I be a good parent? A little over two years ago I was diagnosed with Ehlers-Danlos syndrome (EDS). A rare genetic disease, EDS can range from debilitating to mildly limiting. So when I was diagnosed, that was the big question: what form do I have.

At first my disease was only moderately limiting: I was still capable of the adventurous exploration characteristic of my age-group, just not the manual labor, the weight lifting or sports. So I took to school, enrolling in a bachelor of Sciences degree program heading towards medical school. For a while things seemed to be going fine: my symptoms appeared to have plateaued, the medication was working. My life was on track; identity secured.

Like almost all of my friends who share this disorder finding a doctor knowledgeable enough to diagnose me took a very long time. The rare disease identity is only publicly displayed after a diagnosis has been made. Although that diagnosis equipped me with the information required to answer entreating questions from friends, family members and often other health-care professionals, the characteristics of ‘someone with a rare disease’ have been fruiting through the cracks my entire life.

That brings me to the next big question mark: what is it like? As anyone with a complex medical condition will tell you, physical symptoms are only a part of the experience. After about a month into my first semester in the pre-med program the physical symptoms worsened. A forty hour work week can become a burden for even the most fit, and when you’re a 21-year-old male you always think you’re the ‘most fit’ – no matter what the doctors tell you, or how many new ways you manage to piece yourself back together. The grueling three-hour biology labs spent hunched over microscopes were a little too much for my neck; so I backpedaled. I switched from chemistry to psychology, and dropped out of physics so that I could limit myself to one lab per week. But things quickly got away from me.

What was mild neck pain turned into debilitating neck pain, and then shoulder pain, and back pain. And as I was sizing up the proverbial wall, another question mark appeared: am I worth all this trouble.

The pain has steadily worsened, and so have the complications. The two years since my diagnosis have marked a period of staggering change in my life. I went from the keen, hyperactive pre-med student to a person obsessed with self-worth in a disorienting short matter of time. I lost my friends, I lost my dream, and I lost the freedom to pursue my goals with any semblance of speed. My days are spent on my couch with my rescue-dog, Charlie, reading through articles and research papers on-line. Mourning the life I should be living while at the same time trying to cultivate the one I perhaps can.

Ehlers-Danlos syndrome is weird. There are some who aren’t forced by their symptoms to find a diagnosis until they’re in their thirties – and some even later. There are some who die of vascular complications when they’re in the second decade of their life, and there are some who are confirmed as infants. Aside from the rarer cases where a diagnosis is made in the first few years of life, most of us have a period of comfortable unknown; we don’t feel sick, and thus we aren’t ‘sick’.

When someone asks me what it’s like living with my disease I ask them what it’s like living with theirs. They blink, stare, raise an eyebrow and ask me if I’m feeling alright. So I ask them again. “But I don’t have any disease”. After a few more seconds of awkward tension I say: “when you have a rare disease, too few people know what you’re going through that it’s as if nothing is the matter. For me, since I look normal enough, that effect is intensified. I watch as my body falls a part, and no matter how hard I try, because so few people are aware of my disease, the treatments that could help me, aren’t available. You could see me on my worst day and conclude that everything is fine. It’s as if nothing is happening; It’s as if I don’t have any disease.”

If you live in constant pain there are few things worse for you than being disregarded. Luckily for most that isolation is remedied by a loving family and a tight support group. But even the most loved still feel as if they’re somehow inferior. Growing up we hear words like ‘burden’ and ‘useless’ thrown around – we jokingly say them to siblings and friends in moments of comical weakness, but never really mean them literally. Having a rare disease does make you feel useless, and oftentimes like you’re a burden.. If you don’t have the love of a family or a tight support group, those feelings take root and before long your life is a cloudy haze of doubt and depression.

That’s the question I struggle with most: what does it mean to have value. Clearly value isn’t determined by a job, or a skill-set, or by love. But if not those things, than what? When you have a rare disease your life is spent balancing on the top of a wall. You’re bound to fall over, and when you do, you pick yourself up, piece yourself back together and again and again climb back up. But each time you re-build yourself, something is lost. And over time, the royal family thins; until it’s just you and your question marks. And in those moments of utter confusion and weakness, the only thing that keeps you together is the idea that you still have value; that you’re still important, and that you can still help.

To me, the fight of a rare disease is the fight to find value. Those battles will take different shapes for each person. It’s not about finding some unique position in the world for my disease, it’s about finding a position in the world for anyone with any disease.

EDS has taught me many things. I’ve learned humility, the value of humor and hard-work, of friendship and of love (even in their absence). Most importantly, though, I’ve learned that if we consider even one person useless, or a burden, then the questions haven’t been answered and the problems are still unsolved.

We learn by solving problems, and it’s the hardest problems which achieve the most. No matter how old you are, what job you have or what your gender is, we will all ask the big question: what does it mean to be a person. There is a world filled with people who have rare diseases, who live rare lives and who are given a rare glimpse into the fabric of life. Instead of treating us like we have no disease, be brave enough to ask the big question. I guarantee by comparison you will find the obstacles facing you much less impressive.

There is nothing that makes me feel less afraid, more safe, and more valuable than living my life for my younger brother. I don’t have a supportive family, the love of friends or any real substantial help. I am very sick, very disabled, and things are only getting worse. I live in a world that confusingly tells me of the joys of life against the backdrop of calamitous lives not worth living. And the big question mark looming hungrily above is: are you even worth all this trouble? If the only answer to that raw, fundamentally human pain is to help another person, then why is the inverse not just as true?

People need to be shown they’re capable of having value before they can ever show you they have value. And that’s just a fancy way of saying that everyone has value. If ever a tautology needed tolerated… So let us show you ourselves, and just maybe we’ll learn something together in the shade.

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Feeling Ill

I thought I’d do something a little bit different today, and write something of a Journal, as opposed to an essay. Those of you who follow my blog probably know that I have a chronic illness. As with any long-term malady, the course and the outcome is often quite unpredictable; there are good days, and there are bad days. As a result of my Genetic mutation, my spine and the structures in my neck are quite compromised. I have known this for a while, but it wasn’t until the other day that my suspicions were confirmed – in a way.

I don’t sleep very well, usually; I have Central sleep Apnea and Insomnia, which tend to keep me up all hours of the night. As a result, I rarely have a normal sleep rythym . In an attempt to fix my circadian rythym  the night before last I only slept four hours- hoping that by the end of the day, fatigue would drive me to fall asleep at a relatively normal hour. It worked, and I ended up falling asleep at around 23:30.

I woke at 05:30 feeling pretty well rested, but decided it was wise to catch a few more hours sleep before starting my day. I’ve been taking a new medication for about a week now, and today was the first day I took the full dose (this certain medication requires a slight titration). So I fell back asleep and woke again at 09:30. Again, after looking at the clock I decided I should probably try to sleep just a little while longer. And again I took another medication.

When I woke up the second time I noticed my vision was disturbed- almost like double vision, or some nystagmus. It was noticeable enough that even in my half-asleep state, I felt alarmed. The medication I took was a narcotic pain reliever (I take a round the clock narcotic – once in the morning, and again in the evening). Within about 20 seconds of lying down, I felt this intense wave of euphoria rush through my body. Only not the good kind of euphoria. It was the rough, aggressive kind of euphoria; just tempting enough to remind you too much pleasure isn’t a good thing. Almost like when you’ve passed that point of enjoyable drinking, and everything around you starts spinning, and you know you’ve made a grave mistake. Or just before you pass out, and your vividly aware of what’s coming. It was all of those things and more, mixed into this amalgamation of competing emotions, and associations all pining for my attention.

I knew the feeling right away: I was about to pass out. The paresthesia moved down over my body, and I was coated in a cold sweat from neck to toe. Immediately (and quite reflexively), I sat up in my bed and ran for the phone. I expected standing to worsen the discomfort, and half expected to faint before reaching the kitchen where the phone is stored. Only, quite to my surprise, standing made things much better.

So I got to the phone, looked down in my hand, looked around the room and decided perhaps this was just an isolated incident – quick to go as it came. So I walked decidedly back to my bedroom, sat back, collected myself and pulled the sheets up to my shoulders.

Immediately I knew that was a mistake; the uncomfortable feeling of too much rye and not enough water, the cold sweat and the terror all set in again. I knew something was wrong.

My first thought was that I had somehow slept on my neck wrong and compressed the spinal cord. I thought about how standing made me feel better, and decided that there must be some disruption in the CSF flow to and from my brain – perhaps a Chiari Malformation.

So I contacted my friend Sandy from the ILC Foundation who is both a mentor and emergency contact. She helps people with my condition, and since no one in my family who could actually do anything for me was home, I called her first. Then I called my doctor, then my other doctor, then the telehealth-help line. They all told me I should already be on my way to the hospital.

I knew I couldn’t do that, though. I had no way of getting myself from my house to the hospital, or to the urgent care center (my personal preference). Well, any way except for calling an ambulance – which I would not do… that’s just too emberrasing.

So I contacted my mother to send my father money so he could gas up his car and drive the 40 minute drive to take me to the urgent care center.

After waiting four hours in the urgent care centre, having three needles (two in the hand and one in the arm), an IV and a whole lot of waiting, I was sent home with the sound advice to ‘be cautious’… it was probably the new medication.

This is really what I want to demonstrate, and to talk about. Our medical system is set up in such a way that the patient has relatively no say in the care he receives for his health. Once you report one set of symptoms and signs, you cannot talk of another with validity – whether competing or not. It’s honestly quite an odd thing to experience. It’s the only profession you will experience this type of forced compliance. If you speak with a mechanic and explain the issues you’re having, he won’t walk away. If you speak with a physiotherapist, they listen to all your concerns and take them into consideration. But you’re not even permitted more than fifteen seconds for an explanation concerning something as important as your own life. It’s absurd, counter-productive and incredibly frustrating.

I am under no delusion that because I can read a webmd article and happen to know my body fairly well that I am somehow smarter or more clever than a doctor – a sentiment shared by most of my peers. I understand how powerful a tool a medical degree is – they say on average a general practitioner knows one hundred thousand different facts concerning his speciality (diseases, symptoms, treatments etc..). I’m not advocating for patient oriented treatment (could you imagine if patients were given the power to write prescriptions or send referrals)?!. What I think has to change is the amount of input doctors allow patients to have in discussions concerning their own health. Am I wrong, or alone in thinking patience is a virtue?

I know that the medication I started a week ago is not causing these problems – I know it’s my neck. But if I contest and offer new information, I’m accused of malingering and wasting time. Now I have to wait until the morning to go back and see another physician, draining more money from our economy and wasting more time than was ever necessary.

At the very least doctors should moderate the input they allow patients to have based upon certain key factors – chief among them being the severity of the malady and the competence of the patient. They should be more patient and modulate with less of an iron fist.

Imagine a medical system in which ninety percent of the doctors didn’t have a cranial-rectal disorder?

Overcoming Fear: breakthrough.

Vincent van Gogh, The Starry Night. Oil on can...

Vincent van Gogh, The Starry Night. Oil on canvas, 73×92 cm, 28¾×36¼ in. (Photo credit: Wikipedia)

For most of my life I have suffered from crippling fear; fear of death, fear of illness (hypochondriasis), panic attacks, Generalized Anxiety Disorder etc… I have always had an active anxiety level to say the least. My only saving grace  was that for the most part these fears were totally biased and irrational.  In short, I had nothing to fear; I was healthy, in no immediate danger etc… However, that being said, like any human eventually the reality of death set in.

I became really sick about a year ago. After searching for years for a diagnosis, I was eventually told I had  a rare genetic disease called Ehlers-Danlos syndrome. (I have talked about this before, so I won’t go into great detail now.) Due to increasing chronic pain I take a few narcotic pain-killers; medicines which help a tremendous deal, and which I wouldn’t stop for anything – not even threat of death. I take these medicines as prescribed (actually far less than what I am prescribed), and have never abused them. This summer, though, I developed Central Sleep Apnea. During the first half an hour-hour of sleep I would constantly wake gasping for breath. And when I awoke in the morning I never felt rested, or as though I got too little sleep – a remedy for chronic pain in and of itself.

My first intuition was that this new symptom was sleep apnea, so I asked my doctor to refer me for an over-night sleep study. In the morning, after my study, the technician said ‘you stop breathing’ – so my fears were real. For the next month until I saw the sleep specialist to go-over my results I held firmly to the belief that my apnea’s were few-and-far-between; that I had a very mild case. After a while I even started to believe that I didn’t have sleep apnea at all, hoping that the tech’s were wrong.

The day was finally here; I was to finally, once and for all, find out what was really going on. After a spirometry, the tech quicly reviewed the lab. She told me that I stop breathing; that I have central sleep apnea. My heart fell to the pit of my stomach; I felt like someone had knocked the wind out of me. It was hands-down one of the worst moments of my life. I was in a stupor after that; nodding and just walking where I was told to walk. The last doctor I saw was very kind and thoughtful; I think he could tell I wasn’t handling the news well. He reassured me that I have nothing to worry about, and that it’s very common for long-term opiod users to develop Central sleep apnea; he told me my oxygen saturation never drops below 92% and basically that other than my subjective symptoms, there’s nothing to worry about – that this is the usual course this type of Sleep Apnea takes.

As we were about to leave and he was going to write me a prescription for a CPAP study, I asked him if I could ask a ‘stupid question’. In keeping with his collected personality, he said ‘there’s no such thing as a stupid question’. I asked him if I was going to die in my sleep. Silence. He told me ‘of course not. You are not going to die in your sleep’. I actually started tearing up. It took everything in me to restrain the water works and keep my composure.

Even though both of my doctors reassured me that I wasn’t going to die, and that my life-expectancy was normal, I couldn’t shake the fear. I just knew, deep inside me, that I was going to die. That once my head hit that pillow, I was a goner.

This has been the last four months; crippling fear. All day, every day. I have thought about death in every single capacity, and analyzed it in every single imaginable way. I tried to reconcile my religious convictions; I tried to think of a way to save money for mind-uploading and maybe cryogenic freezing. I tried everything, basically.

Eventually though, the fear subsided. I have effectively ‘shed’ that anxious skin. I no longer fear things with such an intensity; it’s as though my whole software system for dealing with fear-causing-stimuli has been replaced with a tougher, more bad-ass program.

I don’t fear death; I don’t even really think about it. When a new symptom crops up, I’m more angry at it than anything; more frustrated at the inconvenience. I have this new strength and confidence about me; like I can overcome anything.

So, ‘how does one over-come death’. Well, you know the saying ‘stare death in the face’. I don’t necessarily recommend doing that… I say live with death; make death your roommate. When you’re doing the dishes, death should be there drying them off. When you’re eating, Death should annoyingly nag in your ear.

Me and death signed a forty year mortgage. I’m sure as hell he’ll pay up. And I’m oddly okay with that.