Living Without a Label: Parenting an Undiagnosed Child


 

Try as I might to avoid them, situations often crop up when I have to explain my 4-year-old, nearly 5, has a medical condition. Usually it’s to cancel a playdate or explain why I’ve forgotten to do something. Sometimes it’s when we’re meeting people who will need to know, like babysitters or teachers. The conversation goes something like this:

“My son has a periodic fever syndrome. That’s an autoinflammatory disease.”

“Autoimmune?”

“No, autoinflammatory. It deals with the innate immune system rather than the acquired immune system.”

“What’s it called?”

“I don’t know. He’s undiagnosed.”

“Maybe it’s just a virus.”

“It’s definitely not a virus.”

“You know, my cousin has something like that…”

“Maybe, but autoinflammatory diseases are quite rare — like one in a million people might have his condition.”

“Have you tried eliminating gluten/dairy/everything from his diet?”

“No.”

“I’m sure they’ll figure it out.”

“I really hope so.”

“But he’ll get better, right?”

“We don’t know yet.”

And sometimes, silence. Sometimes questions: “What does that look like for him?” Sometimes a great empathetic remark: “I’m sorry. That must be difficult.”

I don’t really mind any of the responses. Except maybe for the one about viruses. And diet. Those get old pretty quickly. In fact, I usually like it when someone asks thoughtful questions — it tells me they’re trying to understand our situation. After all, it’s hard to deal with the unknown and therefore completely normal to want to label and categorize things. That’s how we make sense of life: we have a framework and we organize our worldview within it.

 

Unfortunately, sometimes things don’t fit within the existing paradigm, and people — including doctors, by the way — really struggle with things that don’t fit our preconceived ideas. Believe me, I’d love to fit my life into the framework I envisioned for our family — parenting a child with a rare disease was not part of the plan. But like so many aspects of parenting, the unexpected has taken my life by storm and shattered the delicate shape I imagined.

We know my son has a rare disease, but we don’t know exactly which one it is. We’ve ruled out a bunch of things, everything from Lyme disease and leukemia to strep throat and cat scratch fever. That left us with autoinflammatory as a category, and initially we thought it might be periodic fever adenitis pharyngitis aphthous ulcer (PFAPA) syndrome…but then his symptoms changed. A rash here, some eye swelling there, throw in random flares triggered by everything from illness to excitement, and now we don’t know what’s going on.

In the early months, I didn’t talk much about my son’s health issues. I didn’t know what to say; his symptoms didn’t fit in the catalogue of illnesses my friends and family members knew about — and my mom is a retired nurse. Heck, they barely fit in the catalogue our pediatrician knew about. I didn’t respond to comments like the ones above because I didn’t know how to articulate what was happening, both in terms of his medical symptoms and the impact his condition was having on our lives. Everything felt overwhelming and upside down, and I clung to the idea that once we had a diagnosis, our lives might return to normal and fit inside the nice, neat plan I’d had for all of us.

For a while, I pinned all my hopes on genetic testing — this would definitely give us an answer. I believed it would! I battled with the insurance company, and when we lost, I persuaded our son’s specialist to work with a genetics company we could afford to pay for out of pocket. Surely this would give us an answer, right? We sent off the blood sample and I counted down the days until the results were due in. The other mothers in our online support group tried to warn me: be prepared for uncertainty.

But I wasn’t prepared. I’d hardly cried at all during the diagnostic process for my son — not when he was admitted to the hospital in respiratory distress, not when his temperature repeatedly hit 106F and kept climbing, not when I had to carry him because he couldn’t walk. When the genetics came back negative, though, I cried. I cried big, fat, salty tears of misery and frustration and grief.

If we didn’t know what was wrong with him, how could we help him? If his illness didn’t have a name, could I convince other people it existed? What was the point of all the tests and trips to the doctor’s office if it ended with me at home, comforting my aching child, clutching a useless bottle of ibuprofen and a thermometer the nurses kept telling me must be broken?

In my mind, I stood at the edge of the Grand Canyon, the wind whipping past me as I stared into the abyss. Without a diagnosis, I couldn’t see a way forward. For months, I felt lost and powerless, but over time, I built a new framework for our lives that incorporates our new reality.

Now, I speak more openly about my son’s medical condition; acknowledging his illness with family and friends validates our experience. We’ve tried two common treatments for autoinflammatory diseases and while neither one fully controls his symptoms, one does help from time to time. Some doctors try to dismiss my son’s symptoms as “just a virus,” since it doesn’t have a label. I don’t allow that. Other doctors feel the need to label it something, so they choose the mildest of the autoinflammatory bunch and stick that on his medical notes. Regardless, I’ve rebuilt my courage and learned to advocate for my son. I read and ask questions and I won’t stop doing either of those things until we get some answers — even if I may never get the answer.

I’d love to end on a positive note and tell you I’ve found a way to accept the unknown, to move beyond the need for a diagnosis, but I haven’t. I still want a label and a solution to my son’s condition. Sometimes I stay up late into the night when everyone else is asleep and read complex medical articles I only partially understand. In the blue light from my laptop screen, I sift through his symptoms, looking for a clue I might have missed. My inability to quit searching is the opposite from my husband, he’s much more of a take-life-as-it-comes kind of person.

But maybe this human need to pin things down is part of what drives my ability to advocate for him. On another level, perhaps the thirst for knowledge and understanding also drives medical research and innovation. Maybe one day we’ll be able to pick up the shattered pieces of our framework for categorizing illness, the scraps of our ramshackle understanding of the human body, and put together a better paradigm that includes patients like my son.

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To Parents Like Me: It's OK Not to Be Strong and Simply Survive


“I could never do what you do.”
“You are so strong.”
“I don’t know how you do it.”

These are phrases I’ve heard on and off throughout the past year from people who have the purest intentions. I know when people say things like this, they’re doing so from a place of sincerity and likely not knowing what to say to someone going through something difficult.

For that reason, I’m hesitant to say anything. But, the reality is I have to be honest about where I’m at instead of just talking about how important it is. So, to be honest, those kinds of comments, though appreciated for their intention, often lead me to an internal dialogue I never really talk about.

And it goes like this:

I don’t have any choice but to be “strong,” although strength isn’t what I personally call it. What others see as strength, I see as survival. I’m doing what I’m doing not because I’m an extra-special super-mom with all these coping skills at my disposal, not because I have my shit together more than you and not because I’m some zen master who knows what to do when crises occur.

I do it because I don’t know what else to do. I know my options are pretty limited. I can’t change what I can’t control, and so I have to make meaning of all that I can’t control. The thing about this is there is no handbook to survival. You go through each day, some days more begrudgingly than others, doing what you can without much thought. It’s probably the closest I’ve ever been to an out-of-body experience. I’d like to think I’m making a conscious choice to make lemonade out of lemons, but I know that’s not reality. Reality is I have no idea what I’m doing or how I’m even surviving at this point. I know a big part of it is because I feel like I have to. I have three beautiful children who need their mom, and even though there are a lot of days I don’t feel like I have the capacity to give them what they need, I keep trying my best. But again, the “choice” to do so doesn’t feel at all like a decision I’m making, but rather the opposite — there isn’t any other possible way to keep going but just to keep going.

 

And the reality is, I’m going — but it’s not pretty.

I guess I can say I’m doing well — all things considered. But strength isn’t what got me here. Survival is. And I’m starting to find out survival is a time-limited thing. Eventually, after survival comes sheer lack of function. And it’s no wonder. How long can a person last before they can no longer soften the blow of doctors acknowledging their child is “definitely a rare case,” or hearing words like “poor muscle tone, white matter issues, delayed development or brain involvement” from appointment to appointment. Or seeing their child tremor on a regular basis. Or having to hold down their screaming, shaking, terrified child through another procedure? How long before the forced smile fades when you’re discussing bringing your child across the country for undiagnosed disease programs at hospitals you thought only existed in the movies? How long before a person breaks?

For me, it’s taken about 15 months and 28 days. Being strong and not allowing myself to be vulnerable often enough has only prolonged all of the trauma of this season in our lives. I’ve only recently come to the conclusion that the only thing left for me to do is to acknowledge that, in fact, I don’t have it all together and that’s OK.

I felt I needed to name that because it’s important. Because there are a lot of people who are just surviving and on the outside seem like they are making lemonade. And those people need love. They need to know it’s OK if they don’t have it all together –even when it seems like having it all together is literally a life or death matter. No person can hold all of the pain and uncertainty and fear and anxiety of being in survival mode.

We will all, at some point, find ourselves in situations where our power to do anything is completely limited. And when that happens, it’s OK to not give into the pressure to carry the weight of all of that despair on your own. People will tell you you’re strong and it might make you feel good, but at the same time, it can make you feel like you can’t be anything but strong. That’s OK for a while, and it’s OK to get you through to the next hill, but it just can’t be a long-term solution. At least that’s my experience.

Sometimes strength is really just survival. I can’t tell you how to get through it because I’m right in the middle of that journey. But I can tell you it’s a lot easier if at least sometimes you allow yourself to feel anything but strong.

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The Selfie I Wish I'd Taken in the Hospital


Before my cardiac stress test with bubble study, the nurse asked, “Do you want to take a selfie?”

I was taken aback. A selfie featuring a mask to measure my breathing, a bandage around my forehead holding in place a pulse oximeter, an IV line, blood pressure cuff, EKG leads, and so oh-so-fashionable hospital gown? Why on earth would I want that? I immediately answered no. The nurse laughed. “Some people your age want to take them,” he said. “I don’t really get why.”

Six months later, I wish I’d taken that selfie.

Now, let me say something. I’m not really the stereotypical millennial. I don’t like taking selfies. I have less social media than most of my peers; I only have Facebook, which reminded me yesterday that I hadn’t posted in three months. The selfie wasn’t to show off or even share with other people.

I wish I’d taken that selfie because it would have been a testimony to what I was and am going through. Six months ago, when I was taking that test, there was a very real, very scary chance I was dying. I hid this possibility from everyone but my parents: no posts, no pictures, no records. Mostly, I was hiding it from myself. By avoiding, hiding, deleting and destroying the evidence, I was denying my current reality. If I had taken the opportunity for that selfie then, maybe I would have handled that reality better. Maybe I could have been proud of myself for rising to the occasion.

Now, that selfie means something different. I only have one tangible piece of evidence from my unsuccessful, five-month battery of tests: a hospital bracelet from a particularly unpleasant test (don’t get me started). Sometimes, even though I’m still sick, I have a hard time truly comprehending what I went through. If I had that selfie, or any pictures with the IVs and the oximeters and EKG leads and cuffs, I could look back at it and better understand what I went through. If I was feeling brave, maybe I could use it to help others understand what I went through.

So, Mr. Nurse, yes! I will take that selfie.

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Fighting to Get Through Each Day With an Undiagnosed Illness


I am making pancakes in my kitchen when a rooster replaces the eggs in the carton and I jerk awake in terror as I reach for my phone, positive I’ve overslept and will be docked points for missing the beginning of class.

The phone reads 8:20. I have enough time to get eat and dress and shower if I am quick.

 

But do I have the energy to be quick? I take an innovatory of my body, concentrating on how I feel, how I move, how I breathe. Is my head throbbing? Does my neck ache? How much are my joints hurting? Can I stand today? Well, won’t know until I try. I roll into a sitting position and wait for the world to spin or the nausea to twist my gut. When it doesn’t do it as bad as I expect, I decide to shower. It’s the first day of class, and I want to pretend everything is normal.

That’s all I seem to be doing anymore. Putting on a brave face and never mentioning most of my issues to those in class. They know some of it. My friends have experienced much of me, but even they do not understand how often I am faking it, or at least not showing, and how hard it really is.

“I’m always in pain,” I say with a laugh. “So don’t poke me.” It’s the thousandth time, the millionth time I’ve tried to explain my sore muscles. But how do I explain something I don’t understand? How do I tell my friends I like touch, but just can’t handle it most of the time? How do I describe the migraines – the only issue I have actually been diagnosed with – when I was never given the proper words to know there are stages to a migraine attack?

Every day is a fight. A struggle. Some days the only reason I get out of bed is the knowledge I will hurt worse if I stay. I will hurt anyway, but it is worse when I lie down. Recently, I’ve been falling a lot, and I am often shaking, moving without meaning to and dropping things. My muscles cramp in the cold, to the point that my entire body goes stiff and I shake with the force they exert. And that will cause my joints to ache for the rest of the day, or longer.

Last fall I thought it was fibromyalgia. But now, now I am not sure. Now I am struck with such weakness that I have to be helped up the stairs, or across the room. Now, I cannot lift half a carton of milk without crying out from the pain.

And yet, I get out of bed in the morning and shower. I know it’s a bad idea. I know I don’t have enough time this morning. I know it will exert energy I do not have to spare. But I don’t care. It’s the first day of class, with a new class, and I am dressing up today. I am rebelling against this fight my body has started.

Though I know it can’t last. I know it is only a matter of time until the next seizure.

As the hot water washes over me, relaxing my shoulders, my back, I try to imagine what I must do. I try to imagine what I am capable of today. I try to imagine school. I do not imagine that in three days I will be on my kitchen floor in tears. That I will have such a bad migraine mixed with muscle pain and weakness that I am seeing colors floating wherever I look, and I do not have the ability to make food. And later that night, I seize. Closer to the attacks at the hospital, back in June. The ones I only remember as moments in which I was trapped within my own body, trapped within writhing limbs.

Today I woke up in my chair. Today I didn’t go to class. It’s the first week of school, and I am already exhausted. No, actually I am always exhausted, it’s just worse. It feels like I’ve biked up a mountain only to realize halfway up my wheels are actually square. I am fighting every moment, every day. Right now is just the hardest it’s ever been, because before June I’d never had a seizure like what I am now experiencing on an almost daily basis.

Tonight is better, though I’ve dawned a hat to block out some light. Tonight I can spell decently, and my words have only stuttered a little bit. And so what if it took me five minuets to say the words “heavy,” “plastic” and “plastic plate” with such a struggle that frustration started to seep out and I just wanted to give up the need to speak? Most of the time I can laugh things off. Most of the time it doesn’t bother me when I speak wrongly or my head starts jerking to one side. But, in the moments when I am made aware of just how much I have been limited, it gets hard to just take it.

Because the truth is, I am supposed to graduate in March, and I do not know if I can. I do not know if I have the strength, physically and mentally, to continue. I do not know what is wrong with me. I am afraid it might be something unexpected and hard. But the worst part, besides not knowing, is trying to get doctors to see me, to test for the unlikely things. To believe this is not from stress, or hormones, or the result of emotions.

I want my fears to be heard and taken seriously. I want some way out, to get better or at the very least to manage my symptoms. I need help, and I need tests done. I just hope somebody with the ability to help listens.

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What I Need From Pediatric Specialists Who Treat My Daughter With a Chronic Illness


This week we took my daughter, Maddie, to a new specialists. This was her 22nd specialist — 22 times we have sat in a specialist’s waiting room and have answered countless questions — 22 times. This number doesn’t even include dental/oral specialists, physical therapists and all the other extra doctors/practitioners we have seen over the years.

This time we left frustrated.

We left a little more resigned.

We left a little more heartbroken.

I realize there are many specialists out there doing a fantastic job and making a huge difference in the lives of children (Dr. Wasserman is our hero), but for every incredible doctor we have seen, we have a handful that have left scars.

Those scars hurt.

And when your whole life is about finding help for your child, having a specialist add to the wound is wrong. I truly don’t believe they realize what they are doing, so here are my wishes and recommendations:

1. My child has a name.

Please make an effort to talk to my child, not at my child. Even better, call her by name! The best way to make a connection is to find a few moments to get to know the patient. I realize you don’t need a connection, but we do!

2. Read the medical chart before entering the room.

If we are seeing you there is a reason! Please don’t ask us simple questions about diagnosis and referrals, we need to see you have read the chart and have made an effort. And really, when I have to explain what the primary diagnosis means or how to spell it, how can you expect me to trust anything else you have to say?

3. Honor the work we have made to get here.

You may not agree with what other doctors have done or said in the past. In fact, you may not see any reason for us being in your office, but please honor the work it has taken to be sitting in your exam room.

4. Listen.

When you ask a question, listen to the answer. Don’t assume you already have the answer. We can tell, and the best way to get a child to stop answering your questions is to show her you don’t really care what she has to say.

5. Don’t discount our experiences.

My child has been sick for 17 years. I have sat in countless doctor’s offices and have experienced more than you could ever imagine. My daughter is in the 1 percent club for side effects, allergies and illnesses. I’ve lived through the fine print! Please, don’t discount our experiences. Just because we don’t describe it exactly how you read it in the textbook doesn’t make it any less valid.

 

6. My child is more than a test result and quality of life matters.

I realize your care is driven by and dependent upon test results, but those things don’t mean much to me. I care about my child and the fact she is hurting. When tests results mean another dead-end, can you please offer more than, “well, at least we have another no.”

7. Do a thorough examination.

My daughter told you she had seen 21 other specialists for a reason… she didn’t like your vibe. You then proved it by doing a minimal examination. You proved you didn’t care right then.

8. Acknowledge you don’t have the answers.

After 17 years of consultations and testing, I don’t expect you to have the answers. I pray daily you do, but I don’t expect you to do so. So instead of brushing off symptoms and clinical observations, acknowledge you don’t know what to do! We will honor that and invite you to join the journey.

9. Imagine life in our shoes.

I’m wonder if being a speciality doctor gives you the feeling of being the smartest person in the room most days. Well, being the smartest person in the room may or may not be the case, but you could at least be empathic! I don’t imagine you have considered what it would be like if you had to go through life knowing no matter what you did, where you looked or who you talked to, you couldn’t make things better for your child!

10. Please leave me with hope.

At the end of a consultation leave us with hope. Please. Instead, after sitting through an almost two hour visit you said there was no reason for a follow up unless the blood work came back “icky.” Really? How hard would it have been to leave us with, “I’ll be in touch” or something tinged with hope? But to make a decision that we aren’t worth your time before even seeing test results? Really? Not nice.

From our perspective it seemed awfully easy for you to look at us and say the current medical research doesn’t have a unifying diagnosis for my daughter. But it’s not easy for us.

So what do we do? We continue to fight. We continue to research on our own. We continue. And we will continue to hope.

Because Maddie matters.

Editor’s note: This story has been published with permission from the author’s daughter.

Visit Emily’s blog.

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When One Autoimmune Diagnosis Leads to Another


My mom tells me a story so often I feel like I remember it. I’m 4 years old at a birthday party, all the children are running around and playing. But not me. Where am I? I’m lying on the ground under a table. No, I’m not hiding or throwing a tantrum or even upset. I’m just too tired to play. She takes me to a doctor to have me checked for anemia, but the tests come back negative.

 

Now, fast forward to my freshman year of high school. My lifelong battle with eczema has developed into an unknown skin problem on my face that requires testing for psoriasis. The biopsy test result comes back with an odd note, written urgently in all caps and underlined multiple times: “She needs to see her GP ASAP!” The dermatologist kindly passed us the message with no explanation. So I went, thinking as odd as it was, nothing was really that wrong. My doctor though stared at some numbers that had been forwarded to her, at me, then back at the numbers. Eventually she just asked, “How are you here right now? You shouldn’t be able to get out of bed.” My iron counts were so low that they were nearly off the scale.

To this day it doesn’t make sense to me. I was in marching band which is pretty taxing, I’d been a dancer for 11 years… How had it never come up before then? Yeah, I was tired all the time and had all the symptoms of anemia, but I just didn’t have the time to let it slow me down. Everything I experienced had just been a part of my life for so long I didn’t ever question it.

The summer before I left for college I had a physical. My doctor told me I had slight scoliosis – which I decided must be the explanation for the chronic pain and discomfort from my shoulders to my knees, and she wanted me to get an ultrasound on my thyroid. The ultrasound came back clear and my thyroid was never mentioned by her again.

At college I set up an appointment with a doctor and sat there and tried to explain to him why I was there, but I was really struggling to find the words to describe my symptoms. I think I may have actually told him at one point, “You know that feeling when you know something isn’t right but you don’t know how to describe it?”

As I tried to explain the difficulty thinking or concentrating, the exhaustion that seemed excessive as a student who didn’t party and went to bed at 10:00 p.m., the hair loss even though my iron counts were normal, he asked if I’d ever had my thyroid tested. I told him about the ultrasound. Appalled that there was never any blood work done when an enlarged thyroid was detected, he sent me immediately to the lab.

That led to years of blood work from every six weeks to every few months, trying to get the right dosage. The day I had a family member diagnosed with Hashimoto’s thyroiditis, I called my doctor. Sure enough, my TPOs were elevated. I’ve lived most of my life on a gluten-free diet, so I researched an autoimmune diet and started following that. Amazingly, it helped. A ton.

But something is still wrong – I still have symptoms of something deeper that haven’t gone away. My life sometimes feels like a revolving cycle of blood work and appointments with various specialists. It scares me a little when the doctor says a blood test shows need for further testing, but in the same breath it brings a little relief because maybe we’ll find the answer. Maybe I’m not making this all up, maybe there’s a reason my body sometimes is in so much pain I can hardly hold back the tears, maybe there’s a reason why I can’t get out of bed some days or even find the energy to move my limbs.

I thought the diagnosis and treatment of one autoimmune disease was going to help me be more OK physically and emotionally, and it has to some degree. But as I search to uncover the mystery of what my body is still struggling with, I’ve been taught a great deal about patience, self-love, who my friends are and one thing above all: I am stronger than I realize.

This body wants to live and is fighting so hard to do so. So in the meantime, I try to be gentle with it. I forgive it for having hard days. I listen to it the best I can so maybe one day it won’t have to fight so hard to survive.

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