Why Getting a Diagnosis Matters

I’ve been thinking a lot about why getting a diagnosis matters lately. Because many with Dysautonomia or other rarely diagnosed and invisible illnesses must go through months to years of appointments and testing to get a diagnosis, I have often wondered why we fight for one despite the constant obstacles and hurdles to obtain it. For many illnesses, especially rare and complicated ones, time to diagnosis is typically six years or more.

In 2011, I spent a year going through endless appointments and testing before I finally got diagnosed with POTS. I’ve spent most of the time since then going through endless appointments and testing to figure out what else is going wrong. Comorbities are common for Dysautonomia patients and they can spend years trying to obtain differential diagnoses. Never expect life to be easy, that's for sure!

I’ve mentioned before that about a year and a half ago I suddenly started having difficulty walking. I’ve gone from using a cane, to a walker, to now having to use my wheelchair if I leave house in that short amount of time. I am rarely able to leave the house at this point. Leaving the house is overrated anyway. Except, I miss it.

When I mentioned my walking issue to my doctor’s nurse practitioner when it started she basically told me I was imagining it. Invalidation all over again. So I tried to believe that for many months. But then I couldn’t get around and had to get a cane. I was continuing to lose my mobility rapidly. Hey, every 30 something goes through that difficult period of trying to figure out life while losing their mobility, right? Well, maybe not. I wasn't imagining this.

Having just one random illness no one has heard of is not a thing

I finally saw my neurologist this year. It had been two years between visits (the dude is popular and busy), and I told him what I was experiencing along with other disabling symptoms, he gave me a list of tests I would need to do. My heart sank. He was taking me more seriously but I knew all of those tests and appointments meant there would be no answers for at least another year. That was over seven months ago. I have only gotten progressively worse since then. My couch has a permanent Stefani shaped dent in it. 

While I fought to get the POTS diagnosis, I never dreamed of giving up. I'm in my fourth year of seeking a more complete diagnosis. The drive to give up has been surfacing from my subconscious, but that's not in my nature.

In one of the blood tests, I tested positive for an antibody for Myasthenia Gravis. Loss of mobility, weakness, difficulty breathing, and fatigue are signs of this autoimmune condition. In two weeks I do another test for MG. Maybe a diagnosis? My doctor had me start a medication last week that is used to treat this illness. But still, no official diagnosis. After all this time, will I finally know? But this led me to question why does a diagnosis matter? I am technically already being treated for this and have been learning how to cope with it, so why does the label matter?

Not many people want to be pigeon-holed and labeled. When you are desperately ill, that label is a like a trophy, engraved with the words "I Was Right!" Some never get a complete diagnosis and must suffer the costs of uncertainty long-term, but many of these patients still search for a label for their suffering. A label of an official diagnosis can matter for many reasons.

   Official Recognition and Documentation

Insurance companies and the medical system seem to operate in a very black and white world although there are some of us who live permanently in the grey area in between. There is nothing cut and dry about rare, complex conditions. Yet, a label and diagnosis fits into that tiny square in many medical forms titled “medical conditions" (good luck fitting more than one condition in that square). Having to list a grab bag of symptoms doesn’t seem to hold much weight in their world. Sometimes a grab bag of symptoms leads doctors or medical professionals to instead give a patient a psychiatric label such as “depressed” or “anxiety.” It’s easier than admitting they don’t know sometimes or investigating further. The irony is that depression and anxiety often are an effect of disabling symptoms met with invalidation, not the cause.

This is unfortunately incredibly common for many Dysautonomia patients. There can be serious ramifications from this invalidation. A lack of diagnosis could lead to patients not getting approved for a needed test or treatment option. It could mean a patient cannot get needed accommodations at work. It could impede accessibility to essential services for the chronically ill and disabled.

For those who are so disabled that they are unable to go to work or attend school, an official diagnosis could be a life line. This could help them qualify for disability or other types of assistance. For many, a diagnosis is essential for these practical concerns.

Often when you are chronically ill, you will encounter many doctors who do not know your medical history, you will have to fill out stacks of paperwork, and you will need to communicate to the medically uninitiated (such as employers, family members, etc) your needs. A diagnosis provides a concise explanation. 

Truth really is stranger than fiction. You can't make this stuff up. There’s nothing quite like having an entire Wikipedia page dedicated to your rare condition that you can direct them to when you have a diagnosis. The label leads to vital information and resources. It provides you with a prognosis and information to understand your body. A grab bag of symptoms rarely does. That leads to fruitless internet searches and typing into Google "am I dying?" The label can matter.

 

     Validation (Hey, I’m not just crazy!)

Finally leaving the inhospitable world of uncertainty behind for the more ordered, life-affirming nirvana of diagnosis gives patients validation, especially if they have been told they are wrong by many doctors. It lets patients at least take a break from the endless hamster wheel of diagnosis. This has practical financial, legal, and bureaucratic concerns as I mentioned above, but it also assuages the psyche of those who are desperately ill but have been denied proper care and treatment under the label of mental illness.

When I was finally diagnosed with POTS, I wanted to sing in the streets. Then I wanted to send the primary doctor I had who told me over and over “you’re just stressed” and ended up making me worse a flaming bag of dog poop. Ok, I won’t do that but I still think about it.

After being told by so many doctors that I was wrong, I was finally right. When you get a diagnosis, it's like reading a prequel to your life. The plot holes, disjointed timelines, and weird flashbacks of your story start to make sense.  I have learned that sometimes you will still encounter invalidation and continue to have to “prove” you are ill, yet you can wield a clinical diagnosis like a weapon against these forces. You aren’t wrong. You have proof. The label can matter. 

     Treatment

Perhaps most importantly, a diagnosis can lead to treatment options where there were none before. As with most rare conditions, no specific drug has been created to treat Dysautonomia and POTS as a whole, but there are drugs that treat symptoms such as Midodrine. Drugs are typically used off-label for Dysautonomia and POTS, such as Florinef (which was created for Addison’s Disease). The FDA did recently approve Droxidopa, an Orthostatic Hypotension drug.

It is difficult to treat a patient without a specific diagnosis, so finally getting that label gives a patient some options as opposed to few or none. Even with a probable diagnosis, you can have treatment options. For example, since my doctor suspects Myasthenia Gravis, I have started taking Mestonin and started physical therapy. Proper treatment can provide hope and can lead to a better quality of life. The label can matter.

 

 ***

HuffingtonPost posted an article listing other, innovative avenues for patients with complex conditions to pursue when you are trapped on the hamster wheel of diagnosis. POTS is even mentioned in the article, how about that! Depending on what happens over the next few months, I may pursue #3. 

I have been telling myself over the past year that perhaps a diagnosis doesn’t matter, but that’s the drive to give up talking. It does matter. The process to get there is painstaking to say the least but I have written before that there are ways to navigate it, which is here. 

Even if I also become one of those who must suffer a label-less existence, I know I'm not wrong, and that's what matters the most.

My last trip to Stanford Hospital. Keeping up the good fight

Why does getting a diagnosis matter or not matter to you?

Celebrations

So it is my 34^th birthday today....a very sassy 34

My birthday is a weird time of year since I got ill. POTS entered my life in 2011 and things started to go rapidly downhill for me around my birthday that year. I was still pushing through the PhD program and everything hit critical mass that fall. By October, I was fighting so hard to pretend everything was ok.

By the time my birthday hit, the gig was up. I left the PhD program on November 2^nd 2011 and life looked crushingly uncertain. It’s three years later and I am in the exact same place, at rock-bottom and gazing wearily once again at a very uncertain future.

So yea, my birthday is always a strange time. I am constantly measuring time and illness—thinking “this time last year I was better. I was able to do this and that.” Last year, we had a party at our house because my BFF and I celebrate our birthdays together since they are so close. We had a good time and danced a little. I had finished my first evaluation as a full time professor and did so successfully despite being putting on a brave face while ill. I felt badass and accomplished. I inhaled some decadent chocolate cake in celebration.

This year is completely different. I'm not working. My new office I prepared during the summer is sitting empty. There is no dancing. Instead, I spend my days asking myself “Can I safely drive, shower, prepare a meal?” "Am I able to walk to my kitchen?" I sit on my couch or lie in bed and ruminate on life, surrendering to this opportunity to recover an authentic self. 

My goal was to just show up and be present for my birthday gathering this year. I did have to lie on my friend’s bed through part of it, but I showed up and had a good time. I missed everyone else's birthday this year but made it to my own at least. We sat around and talked about the absurd things we always talk about. It was glorious.

I’m trying to remember that measuring is not living. Pretending is not living. 

My circumstances may be similar to three years ago but my outlook is changing for the better. Although this year has been an endless roller coaster of struggle, I’m working on bringing joy back into my life, which has been absent for years now. Climbing the academic career ladder and fighting a devastating illness blinded me from the things I used to love. When your body is just holding onto mere survival, there isn’t much room for anything else. But I am trying to re-discover the things I left behind.

I’m working on celebrating life and finding small pieces of joy in it by reclaiming my creative spirit.

Like music. I finally finished some songs I’ve been writing for years now and even got one recorded this summer. Music has been my guiding light for most of my life. I may have degrees in literature, but music is more important to me than any piece of literature. I desperately miss performing, but I still play and sing almost every day when I am able. I used to play in restaurants, bars, and weddings, and I took being able to perform for granted. Now, when I get the chance I really savor it. My dream is to record an album of all originals. It’s my number one life goal, and it will happen.

You can hear the recording of "Upright," which I wrote as a reminder to myself of my strength despite my limitations. 

I am listening to my records again. I have been listening to vinyl for the last 15 years, before it got cool again (I am such a freaking hipster). I’ve dragged this collection over state lines multiple times. I’m rediscovering records I haven’t listened to in years.

A few of my favorite things: vinyl records, Harry Potter, twinkly lights

I’m drawing and painting a little again. Just a little. 

I studied American literature, but since I left school all I’ve been reading is fantasy literature. I am reveling in reading whatever I want. When your body refuses to let you move, reading can be transportation.

One benefit of being ill (there are a few) is being forced to be still. I’m a workaholic, so this is anathema to my nature. My brain used to be constantly in motion preparing for what was next and what else I could achieve. But now that I’m regularly bed/couch-ridden, I must lie still and just exist in space. I remember the flavor of life and the pulse of community.  I am given time to reflect—to be truly tethered to the present. This has been transformative. I crave the things I genuinely love, relinquishing the trappings of adulthood that can blunt so many of our real desires.

It’s an opportunity to peel away the layers of self we build to present to the world to instead find a truer self, one that has been lost in the saturation of daily life. It’s been a chance to say I survived going over the edge of the cliff, a chance to observe with clarity and then ask myself, “What do I really want? What meaning can I make from this experience?” 

This sounds hokey, but it’s a reality I’m living. It’s brutal and harsh but beautiful and worthy of celebration as well.

I was a writer before I was anything else. I came to music as a writer. I became an English major because I’ve loved writing and pursued an academic career on the strengths of my writing. Starting this blog and writing again feels like a rebirth and celebration of what I still have and what I have learned. It is the gravity that pulls all the random pieces to make them unexpectedly fit together.

Even in the darkest of times, there can be an opportunity for celebration. Today I celebrate what I have overcome and what I’ve endured. I celebrate who I am, those I love, and all that life gives and takes from us that is truly worthwhile.

The even-numbered years seem to have a better track record for me. I'm letting go of the things that don't matter. I'm bringing the sass. Let's do this 34 

I even ventured outside briefly today. The demon in the background appreciates the sass

How to Help A Friend or Loved One with Dysautonomia (Or Any Chronic Illness)

One of my goals while being on leave was to post more regularly but I hit a really bad patch the last few weeks and didn’t get this post up sooner. But I’m working on getting back to the upswing and writing, walking a bit, and singing to my cats regularly again. My BFF Carrie Anne recommended this topic to me, and I thank her for it. This post is in honor and in celebration of Dysautonomia Awareness Month. 

Although Dysautonomia is an invisible illness, living with the condition has very real ramifications in the lives of patients and their friends and loved ones. The illness can be so devastating that some are unable to do normal activities and have to rely on a caregiver. Everyone needs support in their lives, but for those who are disabled and/or chronically ill, that support becomes vital. 

For many people, it is difficult to ask for help. In American culture, we are taught to value independence and self-reliance. I have found that many who cope with chronic illness once had lives filled with ambition, over-achievement, and self-determination, myself included. When suddenly you are confronted with a life of dependence and survival, there is grief and frustration, which can be difficult to communicate to others. Yet, having a support network that you can trust and rely on can make all the difference for Dysautonomia patients.

Many may think that helping a friend with chronic illness or disability means helping them perform tasks. What your friend or loved one really needs is often intangible. I decided to ask some of the online Dysautonomia/POTS groups I am on about this topic to get their feedback and almost everyone responded with the intangible forms of support. Whether you are a caregiver, a loved one, or a friend of someone with Dysautonomia, I hope you find this useful:

Understanding

Almost every person who responded to my question included this word. Understanding takes many forms, and I believe for many of those who responded it meant trust—trust that even though the illness is invisible, the disabling symptoms are very real. Your friend/loved one is likely dealing with constant dizziness, fatigue, brain fog, nausea, difficulty standing, difficulty breathing, GI symptoms, fainting, weakness, and obstacles performing simple tasks like cooking, driving, showering, or bending over. Their system is on a constant roller coaster ride of fluctuating blood pressure and heart rate because their body is no longer able to self-regulate automatic functions. Even if you cannot visibly see these symptoms, trust that they are experiencing them. They are dealing with constant frustration because of these symptoms and just want someone to understand how challenging life has become.

Many patients deal with constant invalidation, particularly from the medical community. Almost every Dysautonomia patient has at some point heard “it’s all in your head” or “it’s stress.” If a loved one or friend says these words, that invalidation becomes more devastating and emotionally damaging. Imagine dealing with life-altering or even life-threatening symptoms but constantly being dismissed as just “crazy” or “attention-seeking.” The emotional cost of this is unimaginable and it adds to the magnitude of stress illness already causes.

This condition is complicated and rarely diagnosed, so many Dysautonomia patients have to fight hard to “prove” their illness constantly. It can take many years before a patient receives a complete diagnosis. When a loved one or friend just says the words “I believe you,” all of that stress and invalidation washes away. He or she can now be completely honest and authentic with you. It is a true gift. You can even research Dysautonomia, their subset of Dysautonomia, and even their other conditions to gain a better understanding of the symptoms, prognosis, and treatment.

  

 Patience

Many who responded also mentioned this word. I would list this as my number one desired form of support. Your friend/loved one’s life has been completely altered by this condition. They are often grieving their former life and trying to figure out how to continue to live a full or half-full life while ill and disabled. This means they are unable to do what they once could. This could be true in terms of work, social life, hobbies, family obligations, household chores, etc. This illness can alter every aspect of a person’s life. They need your patience because their capacity to do these things has diminished. They may miss family functions or have to get accommodations at work, and they need your patience and understanding that they would rather be fully present in all aspects of life. They are courageously living life and putting on a brave face.

For me, once I became ill I realized how much I had taken for granted in life in terms of what I was able to do. Going to the store wasn’t a massive undertaking. Trying to clean my house didn’t take all day because of constantly having to rest. I didn’t live most of my life on the couch or in bed. Whatever the severity of the illness your friend or loved experiences, they can no longer take participation in life for granted and they need your patience as they try to still participate despite the physical obstacles. Your friend or loved one can be relatively symptom free for an hour or a day and then suddenly bed-ridden. There is often no rhyme or reason, so they need your patience as they navigate the ups and downs of the illness.

Communication

Communication is essential in any relationship, but it takes on new meaning when your friend or loved one is ill. Last week was one of the worst weeks I’ve ever had and by Friday I needed to go the hospital because I was having difficulty breathing and was unable to walk just a few feet. My husband and I discussed whether it was really worth it to go to the ER or not. We weighed the options together and ultimately decided it was not. These types of communications are typical for caregivers and Dysautonomia patients. Sometimes you are faced with very difficult choices because the cost of this illness is paid out financially, emotionally, and physically. Being able to communicate with each other about these choices and the daily struggles of life can make them more manageable because you can tackle them as a team.

National Public Radio recently did a study on stress and the sources of stress, and they found that the highest forms of stress are related to health. What this data doesn’t state is that chronic illness and poor health can be stressful for all parties involved, not just the patient. Caregivers in particular deal with a lot of pressure and stress. I am no professional, but it may be self-evident that communicating with each other about the challenges of dealing with illness could help alleviate this stress.

There’s an undercurrent of guilt when illness takes over your life because how much it can affect others. I often feel the need to apologize to everyone all of the time. If patients and their loved ones can communicate about their challenges, perhaps the emotional and mental strain of illness can be assuaged for all parties. Dysautonomia patients can communicate their limitations and capabilities in terms of housework or what they will need at a social function so that others can help them. Suffering in silence is not a solution. Listen to your loved one to understand what their needs are and this could limit the frustration that often comes with an invisible illness.

 

      Support

Support comes in many forms, and your friend or loved one needs your support. Because some patients are home-bound or are very limited in their activities, they may not get to see friends or family very often anymore. Stopping by their house or calling, emailing, texting to just ask “how are you doing?” or say something funny can really brighten their day.

This illness can be isolating. Many patients never meet anyone else in person who has the same condition and leaving the house is challenging and exhausting. Feeling alone and misunderstood is common. You can check in once in awhile with your loved one or friend to see how they are doing to show them that you support them and think of them. Everyone needs to know they have a cadre of people cheering in their corner, and this is especially true for those with chronic illness.

 

      Saying the right thing

I think many people are worried about saying the right thing to someone with a devastating illness, but I don’t think “the right thing” exists. I think there’s only honesty. Tell your friend or loved one that you miss them, you think of them, you hope their treatment is going well. That you wish them an endless supply of chocolate and puppy kisses. Tell them you don’t understand their condition or why it has altered their life. I only know the wrong thing to say is “I don’t believe you,” but beyond that just be honest, ask questions, and listen. Your friend or loved one probably doesn’t want more from you than that.

Caregiving and support is a two-way street. For Dysautonomia patients, I think we could read these suggestions as “how to help friends or family understand our challenges” as well. We also need to understand, be patient, communicate, be supportive, and forget about saying the right thing. If medical professionals are struggling to crack this strange condition, we can’t expect family, friends, or strangers to fully grasp it either. We’ll get through this together.

I hope I covered most of how to help your friend or loved one with Dysautonomia but feel free to suggest more

For more information on Dysautonomia, visit the Useful Links page on this blog