Singing in a Storm

autoinflammatory chronic illness

A few teachers decided the highest I could earn would be a “C,” which now stands out on my otherwise good transcript like the fiendish glare of a wicked lighthouse.

The calm in our minds may just be the eye of a storm, but for me, I am not sure where that docile sanctuary lies. From the womb, my genetic code has lead an anarchist movement, using my own immune system against myself, and leaving pain in it’s wake as it plowed through every part of my body. In the first few years of my life, the cause of the inflammation could not be named. Doctors had no idea what to do to stop the pain. But, when a new medicine was discovered, for the first time, I had found calm. But even as the disease appeared to be dormant, we later discovered it was still a threat to my daily life.

Eighth grade marked the return of a long tirade of terror as my body rejected the medicine, for it was not enough to halt its schemes. School, and many other things I enjoyed, even singing in a chorus, or spending time with friends were swept away from the existence that I greatly adored into an ever-changing torture room prepared just for me, by none other than my own cells in my body.

Taking finals in the hospital

Taking final exams in the hospital playroom, 2 days after a full cardiac arrest.

A hospital bed often replaced my desk, as the pain became so strong that sitting through lessons was impossible. Without any effective treatment, my desperate attempts to hold myself strong were in vain. I was the empty chair in classrooms, only filled on rare occasions. I was a spectre, and my teachers and school could do little to manage my ethereal existence. They had never dealt with anyone with such an uncontrollable rare disease. Despite my dedication and attempts to do all my school assignments, some teachers refused to work with my situation even though I had a 504 plan that was supposed to help direct my education around my disease. I was being punished in many ways for my illness, and some teachers would withhold giving me class work and notes because they questioned my condition and abilities. Eventually, they would be forced by the school, often late into the term, to comply with the 504 plan. But those teachers could still impose a set limit on what my maximum possible grade for the class could be. A few teachers decided the highest I could earn would be a “C,” which now stands out on my otherwise good transcript like the fiendish glare of a wicked lighthouse.

Another day, another procedure during finals week.

Even though the storm seemed unstoppable, I was unrelenting. I fought this internal attack of inflammation and pain that was especially fierce upon my brain. Nothing, not even pain, could wrench me away from what I have held onto for years: My imagination, and the desire to express it. Although my speech and singing made the physical pain and headache worse, my inner voice became stronger through this battle. Soon it became a glowing screen full of words. Every word glowing at me was a note in a tune that played in my head, a flowing melody that I would pull the chords of, a melody that covered up the static of pain that endlessly remained.

Those words formed a world, built from a small seed of an idea. Never before had such a thought grown so big. In almost every year of that life when the medication allowed some calm, I would make a seed, a story, or an idea, and try to accomplish it. I wrote short comics with my friends in fifth grade, following the adventures of kitchen appliances and food, all in a battle only children could dream up. Adventures in space, or in any world that I created attempted to scratch themselves into my notebooks, and doodles of my new ideas forever forming on any scrap of paper around me. None of those other seeds ever reached full bloom like this new one. Maybe I neglected them too long, or perhaps the storm blew away their leaves and left it dead. But the one story–no, a world, that sat before me on that screen, was one so enormous that even a raging wind could not tear it down.

I keep writing that story again and again, with a vigor that few teachers could see. Pulling thoughts from a mind in painful anarchy, I, find peace. Excitement abounds as words are pulled together, weaving a changing melody that blankets the craziness of my life.

I want to let these melodies plow through any storm, forming a path to somewhere where rest is found.

I want to finally stop rewriting, finish correcting, and have something that will forever imprint itself in the lore of life.

I want to be an author, a crafter of strings that weave together and create a fantastic tapestry that blasts its way to the heart.

I desire my own place of peace, and I want to grow my talents to make that place stronger, strong enough to face the storms of pain that will, inevitably, come.

The Autoinflammatory Alliance is a nonprofit organization dedicated to helping those with autoinflammatory diseases.

Donate now to help with awareness, education, and research for these rare diseases.

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*Lighthouse Photo by bennymarty/Bigstockphoto

Impact of Familial Mediterranean Fever, MKD/HIDS, and TRAPS on Patients and Families

fmf-hids-traps-periodic-fever-syndromesThis 2016 study looked at how familial Mediterarrean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), and tumor necrosis factor-associated periodic fever syndrome (TRAPS) affects patients’ lives and their family’s lives.

We invited a sample of patients with these diseases to participate in the study, which consisted of an interview led by a medical anthropologist, journaling, and creative artwork projects to get a full perspective of the patient and family experience from the period of being undiagnosed, seeking a diagnosis, and during diagnosis and treatment.  In addition, the study was designed to collect more details on what concerns or unmet needs were still being noted by patients and their families.

Rheumatologist Dr. Hausmann and Autoinflammatory Alliance President Karen Durrant, RN, BSN were two of the contributing editors. It was presented as a poster presentation by Autoinflammatory Alliance President Karen Durrant at PReS 2016 in Genoa, Italy. The Pediatric Rheumatology European Society (PreS) is the leading medical society for pediatric rheumatology in Europe and has a large global outreach. There is a large focus on autoinflammatory diseases at this conference and a concurrent meeting of the European Network for Children with Arthritis (ENCA) that board member Saskya Appelman Angevare attended to represent the Autoinflammatory Alliance patient communities in Europe, especially for The Netherlands.
Some highlights from this study:

  • 64% of patients reported having symptoms between flares. This was most common in the HIDS patients.
  • Most report struggles with getting a diagnosis, and a lack of support from schools, family, and friends.
  • Although getting a diagnosis provides a sense of relief to know what it is, it often leads to more questions and uncertainty.
  • 86% report realizing something was seriously wrong after a medical crisis and hospitalization.
  • Most are misdiagnosed before getting a correct diagnosis. Misdiagnoses included lyme disease, meningitis, flu, leukemia, lymphoma, bone cancer, Crohn’s disease, and atypical Kawasaki’s disease.
  • Artwork demonstrating the patient’s idea of what was going on inside their body with disease flares, and how to explain the inflammation in the body. Most children drew pictures of monsters to represent their disease.


The majority of people interviewed shared common challenges and concerns. Here are a few quotes that tell their story well:

I had other kids and I knew something was wrong. It wasn’t no regular virus fever, like they were telling me. I would spend every weekend and every waking moment and stay up all night long looking online for what it would be.

She was in the hospital with a 106° F fever (41.1º C) fever and her kidneys shut down. I knew that this wasn’t normal.

The hardest part is isolation. I’m 28 years old and I just haven’t had the same experiences as my peers.

I had to fight for a diagnosis. I know that sounds insane, and when I think about it, well yeah, it was insane. And they were telling me I was crazy. It went on like that for years, and I kept going to different hospitals. I couldn’t get anyone to believe me.

I thought that the diagnosis would bring us some closure, but in a way a diagnosis is where the real story started.

We’d like more research to be done on all the symptoms of [periodic fever]. Research focuses only on the flares but doesn’t look at what happens between flares. We don’t feel it’s ever 100% gone between flares.

The hardest part about this disease is the difficulty in predicting what my day is going to look like. I can set all the plans in the world, but this disease can steal it away.

hids-fmf-traps-periodic-fever-syndromesThe study concluded:

Patients with autoinflammatory diseases often encounter long diagnostic delays, causing significant stress and confusion for the patient and their families. Distrust of the medical establishment may persist even after diagnosis. Loss of normalcy is a core tragedy for many families. Confusion and uncertainty continue to mark these families’ lives, even after diagnosis.

Initiatives that improve the speed and accuracy of diagnosis, standards of care and treatment, more consistent, comprehensive patient education, and support patients and their families with these lifelong, chronic diseases have the potential to greatly improve the lives of patients with autoinflammatory diseases.

This research study was supported by Novartis Pharmaceuticals, Inc. and was a collaboration with a few doctors and other medical professionals. We are pleased to have been a part of this project, and feel that there were some very important findings that came to light with this study, especially the information on patients having more challenges with symptoms between disease flares, as this is an issue that we hear about in our patient community that has not been well documented in most publications.

Click the graphic to view the full PDF of the poster.


Stuff My Doctor Says: Life with a Rare Autoinflammatory Disease

Stuff My Doctor Says: Life with a Rare Autoinflammatory Disease

Autoinflammatory diseases, aka periodic fever syndromes, are rare diseases that most doctors have never seen or even heard of. The autoinflammatory classification of diseases came about right before the start of the 21st century, so it is a new concept to the medical community. The long list of possible autoinflammatory symptoms can include flares of fevers, joint swelling, stomach problems; and for some, chronic inflammation can lead to hearing loss, liver inflammation, and more. Many patients have spent decades undiagnosed, trying to find the cause of their long list of symptoms. Many see different specialists for their various symptoms. This leads to a lot of time spent with doctors.

All this time with medical professionals can lead to hearing all kinds of comments and opinions from them about their health, and rarity of their disease (for those who are lucky to get a diagnosis).

We asked our autoinflammatory patient community “What stuff have their doctors said to them?” Patients sent us these true quotes they have heard from medical professionals, proving that doctors also say the darndest things!

What doctors say when our illness confuses the doctors…

“You really have an odd set of symptoms and they don’t make sense.”

“I have no idea why that medication helped those symptoms.”

“Blood work is not supposed to change like this.”

“But he’s not supposed to hurt between flares.”

“Well, she’s different.”

“We are going to test him for the flu. But this is not the flu.”

“That can’t be related because it’s not in the literature.” Evidently the canon of medical knowledge is already closed.

What doctors say when they truly care… (We LOVE these doctors!)

“Call me if anything weird happens.”

“Let’s get him feeling better. What do you need from me? How can I help?”

“Let me just give you my personal cell phone number.”

“We will find out, eventually.”

“I have never been so nervous opening test results.”

“Well, I think you are absolutely correct about what is going on with your child.  Doctors need to listen to the mothers-they are usually right.”

When I was leaving his office he said, “Could you please sit down again. I notice you’re not happy with the approach we discussed. Shall we discuss it again to see what you think we need to do so I can help him when he gets sick?” I just have to say that a doctor who is willing to find out might be even more important than one he thinks he knows all the answers.

Stuff doctors say that we’d like to forget…

“I doubt the fever was actually 106. We just never see fevers above 104. The body doesn’t allow for fevers to reach above that limit. Are you sure your thermometer is working correctly?” (Yes fevers in periodic fever syndromes can, and for some often, get above 104 F. Learn more here.)

“Maybe they are just growing pains.”

“Your child was in the hospital with high fever, CRP, ESR, WBC, and liver enzymes and couldn’t walk? That was just a daycare virus. We don’t need to do any more tests.”

“Are you sure you’re sick?”

“Nothing good comes from looking things up on the internet.”

“It’s just a virus.”

“This is a benign condition.” (Read more about how these diseases are NOT benign here.)

“I’m sure you weren’t reading the thermometer correctly”

“Getting your education on Dr. Google, I see.”

I was told I had Munchausen’s once because I had a 104 fever that wasn’t coming down with ibuprofen or Tylenol.

Stuff doctors say when they’ve never heard of our disease…

“Sorry we did not come in sooner; we were googling your condition to find out what it was.” (An ironic statement considering what some doctors have said to patients.)

“Your son sees a rheumatologist for a fever?” (These are systemic inflammatory diseases, which fall under the rheumatology specialty.)

“Autoinflammatory? You mean, autoimmune, correct?” (Click here to learn the difference between autoimmune and autoinflammatory diseases.)

“Can you spell that for me?”

“Periodic fever syndrome? That sounds made up. The doctors probably didn’t know what to tell you so they made something up.”

“Why does he see a rheumatologist for FMF? It’s a blood disorder, not a rheumatology disease.”

“Well, that’s not something we typically see with autoimmune diseases.” (That’s probably because these are not autoimmune diseases.)

When we fascinate doctors…

In my case, after I handed him all my files and autoinflammatory studies etc., the doctor said, “Can I keep all this and see you back in a month so I can do some research of my own and talk to some colleagues.”

“Do you think we could find some DNA from your (long-deceased) father somewhere?”

“I hate to sound like Dr. House, but… it’s not lupus.”

“Get every resident in the building to the ER. We never get to see vasculitis this bad.”

“I’ve heard about you!” said by every new resident rheumatologist at every appointment.

Nurses while we were admitted for testing with no idea of the diagnosis said, “We came to see the mystery patient!”

When the doctor knows the patient is the expert…

When you tell the doctor you just wish a doctor would be well informed so you don’t have to be in charge. And the doctor says, “but you’re so good at it.” I know he meant it as a compliment, but all I could think was, “but what if I die?”

“What other blood tests should you have done that I’m forgetting?”

“You sure know a lot about these diseases.”

“Are you in medicine too?”

“Really?! That treatment works? Let me write that down.”


The Autoinflammatory Alliance is a nonprofit organization dedicated to helping those with autoinflammatory diseases.

Donate now to help with awareness, education, and research for these rare diseases.

Donate Now