How My Daughter's Rare Disease Opened My Eyes

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When my daughter was first (mis)diagnosed with a rare disease in 2013, not only was I utterly devastated by the news that she had a progressive disease, but I was also shocked beyond reason by the realization that such a disease even existed in the first place.

That moment was reality-altering.

In fact, I remember very little from that day, except asking my husband over and over to repeat the name of the disease the doctor suspected. He would say it and I would forget it a second later. How did a disease so horrible exist in this world that nobody ever talked about? Why was the name so foreign that I couldn’t even remember it for more than a second? Shouldn’t everybody be alerted about this vicious disease? Why? How? Is this really happening?

Of course, I was in shock, and would later become very much acquainted with the disease threatening to kill my daughter. And a few years later, after whole exome sequencing, I would become familiar with another rare disease, a newly discovered one, so new in fact that it is simply referred to by its gene name.

The first time, though, in the most startling way, I awoke in a different world – a world where I began to question what else I didn’t know or may have overlooked in my 36 years of life. Outside I heard the familiar sounds of cars and birds, but for me, in the early morning light, I found myself living in a world much altered and unfamiliar. Even the colors I’d viewed my entire life were muted and different to my eye.

I’m fairly certain that a part of me is now gone with the news and shock of my child’s rare disease diagnosis; however, something else happened in that moment: An advocate was born.

Professionally, as a political appointee, I met many advocates and even organized advocacy training sessions. Selected advocates shared stories of best practices to replicate. The stories were inspiring and aspirational, and in many ways, there are teachable aspects of advocacy work. Regardless of the story or cause, one defining characteristic was common throughout: They never gave up.

Each year I would see the same faces in the halls of our state Capitol building – glimpses of weary faces at the end of a long legislative session. You could see the defeat in their eyes and the figurative scars of battle – hanging heads, slower steps, sometimes tears. But the next year, they would come back for another round, always hopeful this would be the year they succeeded.

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Sometimes they did; mostly they did not.

I admired them and their dedication, although admittedly, I did not understand how they did it. Not until the day the advocate inside me was born. It was unplanned and shocking, but there was no stopping it even if I tried.

For starters, explaining to family and friends that my baby was dying of something they’d never heard of was my first role as a rare disease parent advocate. I found my voice as a writer to communicate my feelings and explain her disease. And when words fail me, I depend on my camera to tell a story that doesn’t always require words or sometimes can’t be expressed with them.

Much has changed for me since the day I discovered the world of rare disease. At this point on my journey, I have the benefit of hindsight and perspective, both of which are very useful tools in life. In the very beginning, after the shock wore off and I came to terms with my world turning upside down, I felt that I had an important role to play in educating people about rare diseases. Why? If I didn’t know they existed, then I figured others out there didn’t know about them either. And, beyond the basic starting point of awareness, from there the path leads to understanding, and from there, hopefully, to discovery.

Statistically, one in every 10 people will have a rare disease at some point during his or her life. As I sit and write this to you today, you or a family member may have a rare disease you’ve never heard of or has yet to be discovered. The National Institute of Health defines a “rare disease” as one that affects fewer than 200,000 people in the United States. This definition of a rare disease was included by Congress in the Orphan Drug Act of 1983. There are approximately 7,000 diseases or disorders that qualify for this designation. Because of the Congressional Orphan Drug Act of 1983, the term “orphan disease” is often used interchangeably with “rare disease.”

Anyone who has an orphan disease, or in my case, has a child who has one, can understand the harsh poetry of that term.

Perhaps because I have been very open and vocal about my daughter’s rare disease, I feel as though much has changed in the last three years in terms of awareness. I have met so many amazing parent/patient advocates, born out of necessity, who’ve filled the ears of their friends, family, neighbors, communities, and legislatures with stories about rare diseases.

In the early days as an parent advocate, I was overwhelmed in every sense of the word – emotionally, physically, financially, spiritually — as I grappled with the day-to-day of my daughter’s disease. At times, the grief felt heavier than a human should endure, with a learning curve that seemed beyond my grasp and understanding.

I now recognize my own face amongst those advocates I once couldn’t fully comprehend. I have watched other rare disease advocates find their voices, walk the hallways of their own state (and national) Capitol building, and educate themselves beyond their training. On the flip side, I have met parents who don’t want to talk about it publicly for reasons of their own, which I can respect. Not everybody is an advocate and that’s okay. Advocates advocate for people who can’t or won’t do it for themselves.

For me, Rare Disease Day is every single day of the year. I tell everyone our story. I am not ashamed of my child’s disease, our mutations, her disability, our struggles, any of it. It is the life we have and there is much joy to be found in difficult circumstances. This is our one shot at life – life is not the same for all of us, but an end is inevitable for everyone. I choose to live in the light and enjoy the days as they are given to us.

My hope on this Rare Disease Day, February 28, 2017, is that if you are a person who is afraid to tell your story, or plan an event, or speak with a legislator, that you use this day to try something new. Maybe that means telling just one person your story. Whatever form, use this day to live in the light, share your story through your tears, educate your neighbor or community about something new to them, and above all, know that your voice matters. You never know when or how you can make a positive difference in somebody’s life.

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Thinkstock photo by boggy22

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The Power of a 'Rare Disease Card' When I'm Asked About My Daughter's Health

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Parenting a kid with special needs requires a lot of writing. It seems like I’m constantly writing, which is OK because… well, I’m a writer. Sitting at my desk typing this blog post is far less stress-inducing than the painful daily scribble that comes along with a rare genetic disorder.

Early Intervention requests; reminders that doses changed because of a seizure yesterday; letters to the mayor about the ramp our building is stalling on; financial aid applications; thank-you notes to therapists; Christmas cards in February; invoices from the Tooth Fairy; camp registration and so on. By far the most difficult rare disease writing assignment is filling out new doctor registration forms.

That damn clipboard with the same old questions. Like so many diseases, these registration forms have a progressive course and deteriorate rapidly. Every epic page hurts even more.

Page One is harmless: Date of birth. Address. Phone number. Name of pediatrician. Emergency contact.

Page Two gets harder: Insurance. Siblings. Allergies. School… Thank God DOB was on page one because I’m already so stressed I can’t remember our daughter’s birthday – forget about her social security number.

Page Three makes me sweat profusely. The most difficult section: “Pain on a scale of one to 10.”

I hope it’s closer to a four today. I know it’s not a one. Two would be nice but she’s having tiny seizures and her eyes hurt. Last night she woke up in a spastic episode, so this morning her legs are cramped. She was vomiting so her chest is sore and she had a bad fall this morning… I don’t know, seven?

It’s excruciating to imagine our daughter’s pain. Luckily she’s way stronger than me. She’s a superhero. Like all superheroes, Susannah just smiles and waves at every passing baby. Sitting on the puffy, vinyl waiting room chair she looks like a movie star riding on a float in the Thanksgiving Day Parade.

Page Four: Infuriating. Two lines underneath the question “What brings you here today?” Then another two lines at the bottom for me to list “Other medical problems.” Two lines? If your kid has a rare disease associated with 50 different conditions, you need a card. A Rare Disease Card. I am armed with a KIF1A card everywhere I go. I am a card-carrying member of KIF1A.

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kif1a card with superhero woman photo

These cards are amazing. I’m a happier person because of my card. Secretaries don’t hate me and ER visits don’t take five hours thanks to my shiny new card. First responders will save my kid’s life because that card explains the neuropathy making her insensitive to pain. A laminated card (written by somebody far more eloquent and informed than I am) explains everything one needs to know about a rare genetic mutation and what to do when something happens.

It takes 15 minutes for me to briefly explain Susannah’s rare disease. Usually I can’t get through the conversation without crying – which adds another five minutes to my incoherent rambling. It’s difficult to articulate her condition because the genetic anomaly stopping Susannah from walking is an elusive mystery without a name. Her condition is referred to as a KIF1A-related disorder caused by a mutation in her KIF1A gene. Susannah’s previously unreported genetic mutation is rarer than rare.

Thank God for my KIF1A card! I love my card so much that I carry five in my wallet, 12 in my bag and Susannah always has one in her pocket. Every family member, teacher, babysitter, friend – they all have Susannah’s Rare Disease Card. When I walk into a new doctor’s office and that secretary hands me a clipboard, I just clip my Rare Disease Card onto the form and hand it right back. New school or camp? No problem. My consent form isn’t an illegible novel – it’s a prewritten baseball card stapled to the front. In the middle of the night when her body is as stiff as a board and I’m carrying her into a crowded emergency room, that little card lets me massage her legs instead of filling out a form.

Thanks to my Rare Disease Card, Susannah won’t see the desperation in my face when I stumble through a foggy explanation of her neurodegenerative condition. Silly as it sounds, that ever-present fear goes away for one fleeting moment as I scoop her up, kiss her face and hand somebody that card. Thanks again, card.

Our incredible social worker is there for us every single day. She walked us through Medicaid and helped us get Susannah into school. She spent hours on the phone with insurance companies so we could take a breath and remember to sleep. When I have no idea what to do next (daily) she answers the call. She is our generous navigator and Susannah’s relentless advocate. And she gave us a KIF1A card. A card that protects Susannah from seeing how terrified I am whenever I talk about the disease with no name. When somebody asks what’s “wrong” with my daughter, I say, “Absolutely nothing, she’s a superhero” and hand them the card.

This blog was originally published on KIF1A: A Blog About Superheroes.

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Thinkstock photo by Vasiliy Koval

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How Kansas' Medicaid Drug Policy Affects My Daughter With Chronic Rare Diseases

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This is my daughter, Cambria. She’s 7 and lives with two rare chronic illnesses: panhypopituitarism and adrenal insufficiency. To manage her condition, Cambria receives a nightly injection that stabilizes her blood sugar, regulates her body’s internal systems, and keeps her alive and healthy. These shots will continue throughout her life.

To tweak her medication regimen, it has taken seven-plus years of trial and error, careful observation, repeated blood work, incredibly large sums of money (even with private insurance) and multiple trips to see the best specialists in America. Though her injection “sucks,” she understands her life is at stake if she doesn’t have it.

I don’t know about anyone else, but when I was 7, all I worried about was what flavor Flintstone Vitamin I’d wind up with at breakfast. At 7, my own mortality never even crossed my mind. Today my heart was broken when Cambria questioned her own upon learning Step Therapy would have an impact on her, too.

Last June, Kansas passed a Medicaid drug policy referred to as “fail forward” or Step Therapy. Despite aggressively campaigning against this initiative, many lawmakers supported and pushed for the passage of this Medicaid policy as a “cost saving measure.” (Some of these lawmakers were even present at our 2016 NORD Rare Disease Awareness event and saw firsthand the faces of those this policy would affect.)

In a move lawmakers thought would reduce the costs of KanCare, the state’s privatized Medicaid program, Step Therapy requires KanCare members to start patients on less expensive drug therapies before moving them to a more expensive, sometimes newer therapy. In short, you must fail on a less effective medication, have medical documentation of the symptoms, and endure unknown medical effects on two different Tier 2 medications before you qualify for a clinician to review your Tier 3 request. There is no guarantee, even with your physician’s letter and documentation, that a clinician behind a desk with limited knowledge or your case will approve that higher cost medication. This is unacceptable.

Today we received a letter from Blue Cross Blue Shield Kansas City, dated January 17, 2017. The letter stated that due to changes in our prescription drug list, a result of decisions made by a BCBS committee that meets quarterly, Cambria would no longer be eligible for her current medication under the Step Therapy Plan. All changes are effective March 1, 2017, and no patient will be grandfathered in on their current treatment.

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If the BCBS committee meets quarterly, it’s a safe bet this “pricing decision” was made in 2016. In waiting approximately six weeks before a major policy change before informing affected patients by mail, BCBS has been incredibly irresponsible. If you’ve ever waited for a medical authorization, you understand the agony of waiting for a treatment for yourself or a loved one.

We first learned of Cambria’s condition when she had a “crash” at home – she was literally dying right in front of us. We rushed her to the hospital where a team of 10 miraculously stabilized her for transport to the local children’s hospital downtown. During her five-day stay, we were told to initially qualify for her life-saving injection, the insurance company required a failed stimulation test. A stim test consists of baseline blood draw, a hormone injection, and repeated blood draws at specific intervals to prove your body cannot sustain.

During the test, Cambria visibly declined, leaving me pleading with nurses to stop the test. For the second time in five days, she crashed and became unresponsive. Though we were in the hospital with qualified staff, they struggled to raise Cambria’s sugars, unsuccessfully trying several treatments before stabilizing her. Watching your daughter headed toward death twice in two days is difficult, but we thought the worst had passed.

We were wrong.

We waited six long months after her stim test for Cambria’s initial authorization in 2009. At discharge, doctors advised us to wake our 4-month-old daughter every 90 minutes to give her a bottle of apple juice laced with cornstarch to maintain her blood sugars. If we missed a single feeding, we risked waking up to a dead baby. If we were lucky, she might “only” experience brain damage or a coma. If not for a doctor who called our insurance company and demanded an approval during a follow-up appointment, I’m not sure how long we would have waited for an approval.

As a private patient advocate for individuals and a public advocate for the rare disease community, I frequently hear indifferent attitudes about Medicaid decisions from families who are blessed to enjoy privatized insurance options. The “it doesn’t affect me” attitude is rampant.

BCBSKC proved today that financially driven decisions made when lives are at stake are the worst decisions – and they affect us all. I believe the Kansas Step Policy is not only harmful, causing undue pain and hardship for patients, it is irresponsible and fiscally unsound. Since there are no timelines for failure, patients can be restricted to Tier 2 medications for unknown periods of time to satisfy a clinical requirement of which there is no public documentation. The costs of treating symptoms and conditions resulting from an inferior medication are likely much higher than providing Tier 3 access in the first place. Compounding this issue is the fact that two drugs must be failed on before returning to an initial Tier 3 prescription.

Why are we touting the success of additional NIH funding and research developments at KU when we are not utilizing newer medications that already exist? Why do we even bother putting any money into research at all when our lawmakers are determined to restrict access to treatment in the name of cost savings?

On March 6, I will be in Topeka to host NORD’s Rare Disease Day Expo for lawmakers, industry stakeholders, patients and non-profits. Kansas failed in all seven areas of the NORD report card – the only state with that distinction. It is time for all of us, regardless of our participation in state programs or private insurance, to band together and show lawmakers we are people with faces and families – not cost savings.

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Thinkstock photo by Nomadsoul1

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Why Parents Searching for a Diagnosis Need to Know About Whole Exome Sequencing

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This morning I received an email from a parent whose child was just diagnosed with a KIF1A mutation. The family has suffered through almost 10 years of misdiagnosis, agony and unnecessary (often painful) tests. These parents have been on a decade-long quest for an answer to their son’s degenerative disease.

Not once in 10 years did anybody suggest or prescribe a whole exome sequencing test — until last month. This brave family didn’t even know such a test existed. The test confirmed a mutation in KIF1A. *(Side note: If you aren’t familiar with WES, read my previous post for reference)* Their doctor didn’t know what a KIF1A mutation was and it took a neurologist three weeks to call and report the difficult news. Three weeks of not knowing what their son’s diagnosis meant and 10 years of not having a diagnosis at all.

We can learn a lot from this brave and awesome family. Over the last 10 years they have endured challenges that we now face. These incredible parents can tell us about treatments that helped, medications that worked and much, much more.

Our family is so lucky — for so many reasons. Susannah’s supportive medical team is at the top of our list. These people don’t rest until every family who might benefit from whole exome sequencing gets it. They give families incredible care and counseling filled with compassion and empathy. Our daughter is in the most capable of hands.

Imagine if everybody had access to whole exome sequencing… I believe hundreds of kids would be diagnosed with KIF1A, protocols would be in place, gene therapy would exist and cures would be discovered. We quickly have to identify every person with a KIF1A-related disorder. In doing so I believe we can aide in this discovery and help physicians reverse the implications of variants in the KIF1A gene.

Write to congressmen, senators and lawmakers. Call and tell them how vital increased funding is for clinical research — ask every doctor if they know of any mouse models or KIF1A breakthroughs.

Or just send an email to us. There’s a whole support system of people with kids who have KIF1A. Somebody will definitely give you a hug or a smile. So reach out; there are plenty of people just waiting to give you a high-five.

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two young kids standing behind fence at baseball field
Luke’s daughter, Susannah, and son

Our superhero, Susannah, can do anything she wants to. If she decides to be a doctor when she grows up, that’s great. There’s no doubt she has the best role models a kid can have. Perhaps she’ll re-write the Hippocratic Oath, reminding all of society of the importance of whole exome sequencing in the fight to cure rare genetic disorders.

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To the 3 Women Who Rallied For My Rare Disease at the Women's March

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I write this piece on a harsh day for disabled students in our public school system as Betsy DeVos’ nomination becomes a stark reality, even as it flouts opposition from national education organizations, students with special needs and disability advocacy groups, American parents’ demands for a qualified candidate, and the demands of many American citizens.

As odd as this theme may seem today, I want to write about the reality of courage, of compassion, of how three brave women who did not even know me marched for me and for raising awareness of my rare neuromuscular disease during the Women’s March on Washington through Suffering The Silence and their brilliant #MarchingWithMe campaign.

woman holding angela davis' marching with me sign and another sign that says a woman's place is in the resistance

These three women stood up and literally marched for me when my wheelchair and my deterioration would not allow it. They all volunteered out of the greatness of their hearts not only to march with my banner pinned to their generous works of art they carried and created, but also to raise awareness of my rare disease during the March in D.C. and Toronto. They even sent me videos and posted them on social media during the March! It is so difficult to grab the attention of the general public regarding rare disease needs, suffering, and battling for medical help, so what these women did for me is remarkable!

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woman holding sign that says we are the noisy majority

This month is Rare Disease Awareness month and February 28 is #RareDiseaseDay for the U.S., officially sponsored by N.O.R.D., and globally #WRDD2017 as sponsored by Global Genes. I am honored both organizations have featured my rare disease Mighty articles! I am even more excited this year because I have the profound honor of three women #MarchingWithMe every day and all through this month of rare disease awareness! They have posted all about my rarest and most incurable form of stiff person syndrome or Moersch-Woltman disease across their social media networks.

Before Suffering The Silence partnered me with Mariah, Amy, and Donelle, they did not even know about my rare disease or how it turns my body into a rigid, blindingly painful pretzel every day with no cure in sight. These extraordinary women leapt into action and created their own artwork to accompany my photo banner during the Women’s March and shared their devotion on my behalf all over social media, well beyond one day. As we rare disease warriors say, it is Rare Disease Day for us every single day!

angela davis' marching with me banner

I am tremendously fortunate to have this infinite support from these women who became my unconditional friends. Rare disease patients need this kind of fiercely loving support to fuel our endless fight for our lives and to know we are not forgotten despite the current hostile political atmosphere, especially hostile against disabled, rare disease folks who are often mocked and discarded in many ways at an alarming pace. There are dedicated, exceptional, and talented women and men who embody empathy and courage as they literally put their bodies in the fight for their sisters and brothers who live in the merciless grip of rare diseases.

woman holding a sign that says i am not free while any woman is unfree

There are kind, amazing strangers who quickly become friends, who do fight alongside rare disease patients and their families, in my case just my husband and me, as our biological families discarded us because they are too frightened to face my progressive disability and suffering, afraid not to see me and experience me as an able-bodied person about whom they do not need to worry. Fear and a good dose of cruelty creates this abandonment so many of we rare disease warriors endure.

So, on this stark day particularly for disabled students in public school, I want to use this tangible example to prove we, the people, we, the rare disease warriors and our allies, are here for you. We fight alongside you. There is great power in reaching out and asking for help.

Suffering The Silence responded immediately to my plea. The fantastic women who run this organization are all chronically ill and fighting for medical help and social understanding, too. They refused to leave me out. Mariah, Amy, and Donelle refused to forget me and, as a result of all of us working together, we rallied for all of us. We all spread the dire need for equality right now and always! We continue to fight for rare disease truth and courage, and we continue to raise rare disease disability awareness as rare disease can affect anyone at anytime. All of us working together will and do create very real and very welcome change for the better, better chances for rare disease relief and cures and a better, truly beautiful world for all of us.

Editor’s note: This story reflects an individual’s experience and is not an endorsement from The Mighty. We believe in sharing a variety of perspectives from our community.

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My Life With Illness Is Like Running the Boston Marathon While Sick. But I'm Winning.

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Yes.

I am sick. I know you can’t tell. I look just like anybody else you may pass on the street. Maybe even a little bit better? (I put a lot of effort into that, thank you). That’s OK. I actually kind of like it better this way. You see…

1) I like that I don’t get noticed in public.

2) I like that I don’t get swarmed by people offering me “special” treatment.

3) I know when a stranger asks “How are you?” they are really just saying “Hi.”

4) I like that no one, and I mean no one, can tell how I sick I am.

5) I am on top off the world when I can totally, and completely, pull it off.

No.

I am not weak, “crazy,” faking, a drama queen, an attention seeker, or a princess. It’s easy really; it’s so easy to understand.

Just think about what you feel like when you are really, really sick. I mean super sick. Let’s say you have food poisoning. Oh, and you also have a hangover, and somehow you still have the spins… yes, the spins! And you have a migraine, of course, while running a fever, so you have the chills, but sometimes you also feel like your skin is on fire, and with the fever your joints all feel as if they are going to explode — your knees, your neck, your feet, even your hands. But, you are in the Boston Marathon! It is today. It is right now! And you are in it, and there is no way out. And you are running it. Right now, with all of that crap going on. Running, you are running! Got all that? OK? OK!

Well, that’s what I feel like. Except (and this is the part I cannot help you understand) that’s what I feel like every single moment of every single day. Life, my life, is being that sick while running the Boston Marathon. Yes. Every moment. For 12 years now. Nonstop.

Have you ever seen one of those movies where someone has to relive the same day over and over and again until they finally get it right? And then, after many, many retakes, eventually, they get it right, and bam, tomorrow comes! Well, that’s what being sick every day is like for me, except there’s one huge difference. I get it right every single day, and guess what? I wake up in the morning, and it’s still today! Tomorrow never comes. After 12 years, I’ve come to realize it’s not, ever, coming.

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Imagine that.

I know that concept might seem a little far-fetched to you, so here is something that might help you to understand a little better.

Have you ever gotten sick at work and realized you needed to go home?

If for some reason you were able to hang in there and finish out the day sick, and you sat very still and kept really quiet, and sipped your tea or chicken broth, do you think anyone would notice you were sick? Well, I guess it depends on your job, but they probably would not have noticed, huh? You pulled it off! Yay! You didn’t seem sick, so maybe you weren’t sick? Maybe, you were you faking being sick?

No. Of course not.

You weren’t faking being sick. You were faking being well.

Not an easy task. Was it?

Well, that is the story of my life.

I fake being well. I fake it from the moment I wake my children in the mornings till the moment I kiss my husband good night. I am lucky I can fake it most days.

Days when I am too sick to fake it, well, you won’t see me. My joints swell up, and I can’t walk without limping or use my hands to do simple things like, say, hold a cup of water, open a doorknob, brush my hair, brush my teeth.

When I am too sick to fake it, I look like I’m drunk. Vertigo consumes me. Staggering as I walk, gripping walls so I don’t fall down and hanging my leg over the side of the bed to help me get a handle on the spinning. I pretend I am on a hammock or on a raft floating in the river, up and down, side to side, back and forth, so I can drift off to sleep without puking. This one is especially tough because there is no mental escape. There is no book, no show on Comedy Central, no internet surfing that can take it away. I can’t even open my eyes without watching the world spin. Honestly though, closing them makes it worse. Sleep, some pharmacologically induced sleep, is the only answer here.

When I am too sick to fake it my thoughts are so jumbled that I call “breakfast” “dinner” and refer to the sink as the fridge. I say things that don’t make sense, and my family gets confused. I set five alarms on my phone, plus two really loud backups on the alarm clock in my bedroom, just to remember to pick up my son from school. I leave sticky notes everywhere. Notes that say things like “feed the dogs” and “get Phin to unload dishwasher.” Usually, I forget to look at them.

When I am really too sick to fake it, you won’t see me. No not at all. Never when I am at my worst. When I lie on the bathroom floor after bending over the toilet, while my heart does its thing I just try to ride it out and stay conscious. There is nothing else I can do. It’s like having food poisoning, while having a seizure, while being scared out of your mind. I try not to freak my husband and my children out, but I know I do. When this happens I can’t talk. I can’t move. Sometimes, when it gets bad, I lose consciousness. Sometimes, I can’t even find the strength to breathe in that next needed breath.

I know there are moments — actually, I think maybe all moments, where everyone forgets I am sick, except for those times when I am on the bathroom floor, of course. I am, after all, constantly trying to tell myself I am fine.

Because I am fine, you see.

I can do this. I am doing this. I have no choice, and yes, I am pulling it off. I haven’t died yet, so I think I can make this work, right? If there is any chance at all I can function, well then you bet I am going to function, at least as best I can.

I put on makeup and I grip the brush like a 1-year-old would. I choose my clothes carefully, ones without buttons or zippers, which are too hard to fasten. I walk slowly in the grocery store so my knees don’t buckle, and I always bring a list. I smile. I don’t even try to carry the weight of a purse. If I am having trouble first I will: try nonchalantly sitting in a chair. Then I’ll kneel or lie on the floor, and if that doesn’t work I will lock myself in any bathroom and keep my phone handy. I squeeze my husband’s arm when something bad is about to happen and I need to get the hell out. He knows what that squeeze means now. Yes, he knows.

And what do you know of this? Of Ehlors-Danlos syndrome? Of postural orthostatic tachycardia syndrome?  Of Castleman disease? Of my Boston Marathon? You know nothing of this, I hope. Because if you understood any of this, there would be no reason other than that you are a sick person, too. And I hope you are not. I really hope you are not.

Please, don’t pay me any attention. We don’t even have to talk about this. Seriously, I don’t want to. I am happy appear a little odd, to be misunderstood, speculated about in conversation, put on the spot and yes, occasionally even judged. It’s OK with me. Carry on, as you are, you beautiful, fortunate and healthy people. I adore every single one of you. You make me smile on the inside. I watch you working, jogging, chatting, even just running errands, and I grin inside. I remember what it felt like to be you. I was young, and you are beautiful. I remember those vibrant days so vividly when I look at you, the best feeling in the world.

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Thinkstock photo by Alextype

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