The Pain of Autoinflammatory Diseases: Children and Adults Tell Us What a Flare Feels Like

“Autoinflammatory Pain” by Christina Sweet

 Pain. Hurt. Fire. Needles. Burning. Knives.

Those are the words used by children and adults who have a systemic autoinflammatory disease (SAID). From diseases with sporadic attacks of inflammation, such as PFAPA, to the more chronic and damaging autoinflammatory diseases like CANDLE, NOMID and SAVI, it’s clear these are painful diseases.

Those affected by a SAID (also called periodic fever syndromes) go through periods of time referred to as “flares” or “attacks” where their disease is highly active and debilitating.

Flare symptoms can include fever, rash, mouth ulcers, joint swelling, inflammation in or around organs, and other systemic inflammatory symptoms. Depending on which autoinflammatory syndrome it is, flares may last days, weeks, or months. Some may have periods of decreased severity, but never get full relief of their symptoms. And some of the more chronic SAIDs can cause permanent damage to bones, tissues or organs if untreated. (Learn more about these diseases and symptoms here.)

It feels like my bones are all broken. -R.A., age 5, diagnosed with uSAID Click To Tweet

Although we can read and know the symptoms of a periodic fever disease from medical literature, for those of us who do not suffer from it, it’s hard to image what it actually feels like to have these flares. So we asked our community to describe what a flare physically feels like to them.

The answer most everyone gave, from kids to adults was “pain.” Flares are painful, and the entire body, inside and out, can hurt.

“What a Flare Feels Like” by PythonKitten

I feel really, really sick and don’t want to do anything but sleep. I get a headache and everything hurts. -D.C., age 4 diagnosed with uSAID/SURFS

It feels like my bones are all broken. My brain hurts. My eyes are on fire. My throat feels all krinkly. My heart beats hard and fast and I can’t breathe. -R.A., age 5, diagnosed with uSAID

It makes me feel weak and like I can’t move at all. Sometimes I feel like I can’t wait to go to heaven so my body won’t hurt anymore.  -A.V., age 8, diagnosed with TRAPS

My brain and body are at odds. I feel like I’m walking through water and my head is full of cotton wool. I want to run away from my body, but I’m too busy hiding in my bed and focusing on just breathing when the pain becomes overwhelming. -S.K., age 40, diagnosed with FMF and neuro-Behcet’s disease

I want to know what not having a flare feels like. What does it feel like to be totally healthy? -K.R., adult diagnosed with MWS Click To Tweet

If pain were noise, my body isn’t loud anymore. (Stated after getting on effective treatment.) -M.C., adult diagnosed with MWS

It feels like my eyes, my knees… it feels like my whole body is in pain. It makes me tired. It makes me weak. When my bones are crackly and the pain is starting up and stairs make me cry, that’s when I know a flare is starting. -L.J., age 5, diagnosed with variant CAPS/MWS

It feels like a dragon is spraying fire on me! -O.G., age 7, diagnosed with FMF

Badness…my whole body feels bad and it means I have to get a shot. I’m scared of my shots and don’t like them. -E.E.C., age 4, diagnosed with HIDS

My body hurts. I’m always cold. -T.T., child diagnosed with FMF

Tons of knives are poking my feet and legs. -I.B., age 5, diagnosed with uSAID Click To Tweet

It feels really bad. It feels like tons of stuff hit my head and tummy. All of my mouth hurts. My whole body hurts. Tons of knives are poking my feet and legs. -I.B., age 5, diagnosed with uSAID

My body feels very tired and I say “Owww.” My knees feel like they have bumps in them and my skin looks like a spider web. -G.S., age 5, diagnosed with uSAID

A teen with NOMID drew this picture to represent the constant pain and pressure from brain inflammation (aseptic meningitis) as a device attached to his head, spine and body, with the controls on the back and out of his reach.

When I have a headache, it’s like I have a metal ball inside my head. My throat has fireworks inside. My legs are too tired and shaky. My tummy is like rotten eggs. My muscles are too big and it hurts. -S.B, age 5, diagnosed with uSAID with IFIH1 mutation

Sore- I feel sore, more sore than normal, my throat blisters. I feel different. I don’t like it. -C.D., age 10, diagnosed with CAPS

It’s an unwanted visitor that I can’t wait for it to leave. Never the same, but familiar. Always, always stops me from living normally and robs me of special occasions, social gatherings and days and nights out. It doesn’t just leave without a footprint- it leaves fatigue and an aching. And once it’s gone, it’s the mental preparation for it returning. It is unpredictable, and as such life can’t be planned counting on it to arrive at a set time and place. Sometimes it arrives out of punishment for getting to bed late, for allowing yourself to be stressed, for getting cold. These are the worst kind because you take the blame. But it’s not really our fault- it would come anyways! -M.D., age 37, diagnosed with CAPS

“Pain” by Tanja Ackerman

It feels like multiple pains at one time. Very painful pain. The pain is everywhere. -Q.T., age 8, diagnosed with HIDS

Doesn’t feel really good, my body hurts so bad. I wish they [the flares] would go away with a hug and kiss. -O.G., age 5, diagnosed with uSAID

It feels like I’m very burning everywhere and my head hurts so bad. -P.R., age 5, diagnosed with Majeed syndrome

All I want to do is sleep. My stomach hurts. My whole body hurts. I can’t hold down anything. -A.O., age 21, diagnosed with NOMID

It's like having a bad flu. I'm only getting half my life done. -C.M., adult diagnosed with FMF Click To Tweet

It’s like having a bad flu. I told my doctor I can see why people die from dysentery, because that’s what it’s like for me: very painful everywhere, nauseating, disgusting, and I feel like curling up into a ball and rocking. I’m only getting half of my life done. -C.M., adult diagnosed with FMF

It’s like the worst flu you’ve ever had. -N.S., adult diagnosed with HIDS

It burns when people touch me! Or when things touch me! – child diagnosed with PFAPA

So easy to sleep! Just about the only time I don’t have insomnia. Heavy eyes, SUPER fatigued, screaming legs. Sometimes I still gotta go to school. That’s the worst. I used to be very nauseous and vomit frequently. I often lose my appetite and have lost weight because of it. Stomach pains. Throat feels like needles are stabbing it. -J.J., age 13 diagnosed with uSAID

A flare feels like a really bad flu bug – rash, fever, swollen glands, sores in my mouth and throat with a pain throughout my bones. However, because it doesn’t have a name and because I can’t find a doctor who understands how to diagnose this, I am expected to continue preform my life as if I am a healthy person. Worse, as a business woman, I have to keep my illness hidden from my male colleagues so that I do not appear weak and inferior. -C.E., age 42 diagnosed with uSAID

It's the excruciating twist of pain in your gut...you know it's coming for you. -A.F., age 38, diagnosed with uSAID. Click To Tweet

A flare is fatigue so bad you can’t sleep. It’s bone pain in your arms and legs. It’s every joint screaming at you when you try to move. It’s skin so sensitive you can’t bear the thought of a shirt. It’s constant GI issues, such as debilitating nausea. It’s having a sudden bout of diarrhea in the drop-off line at your child’s school, causing you to sacrifice another pair of underwear and pants to the cause. It’s the excruciating twist of pain in your gut. It’s the realization that after 15 bouts of diarrhea in 4 hours, you’re going to have to face the ER. It’s always knowing more about your disorder than any doctor you encounter aside from your specialist. It’s knowing you’ve failed most known treatments for this, and waiting for the last one that you’re currently on to lose effectiveness. It’s being a walking time bomb because your disorder has attacked almost every organ in your body at some point EXCEPT for your heart and lungs, but you know it’s coming for you. -A.F., age 38, diagnosed with uSAID

My tummy feels like out tightens then un-tightens. I hurt all over. My head feels like it will explode. I can’t open my eyes and it feels like glass is in my throat. -J.R., age 7, diagnosed with uSAID

It feels like being attacked from within; my whole body was shaking, throbbing, in pain, and unable to walk, unable to use a knife and fork or drive; having uncontrollable temperatures; having a rash that is all over and intensely itchy at times and a sore throat and glands up so bad that your jaw can’t open properly; stomach pain and chest pain.  -A.L.M, age 42, diagnosed with Still’s disease (AOSD)

Today's rash is like poison ivy over a second degree burn. -M.S., adult diagnosed with uSAID Click To Tweet

Today’s rash is like poison ivy over a second degree burn. -M.S., adult diagnosed with uSAID

I want to know what not having a flare feels like. What does it feel like to be completely and totally healthy? What does not having fatigue, bloodshot eyes, joint pain, hearing loss, stomach and abdominal cramps, chest pain, chills, headaches, and hives feel like?! -K.R., adult diagnosed with MWS

I never knew what “normal” was supposed to feel like until I went on treatment for CAPS. I am free-I am no longer a prisoner of pain. -A.C., diagnosed in adulthood with CAPS

The feeling that a patient “never knew what normal felt like” before being on the right medication for their disease is one of the most common statements that we have heard from a number of patients with various forms of autoinflammatory diseases. For many of these syndromes there is effective treatment, but because these are rare diseases, it can take many years to get to a diagnosis. For some there is not yet a highly effective treatment. This is why the Autoinflammatory Alliance is dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases. You can help us by making a donation here.

To learn more about periodic fever syndromes, click here.

 

 

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Autoinflammatory Patients Share How NIH Research Saves Lives

Aerial view of the NIH clinical research center. By NIH [Public domain], via Wikimedia Commons

What does the NIH do?

The National Institutes of Health (NIH) funds and conducts research that has advanced all areas of health, from common diseases such as cancer and heart disease, to rare diseases such as autoinflammatory syndromes (aka, periodic fever syndromes). Experts at the NIH have been researching, and providing care to patients with, autoinflammatory diseases for over 25 years. Through the NIH, thousands of patients with mysterious symptoms, such as recurrent fevers, rashes, hearing loss, and joint swelling have gotten a diagnosis, treatment, and even had their lives saved by the experts there. Meet some of those patients below.

Learn more about how to advocate for more NIH funding and why it matters here.

Isaac celebrated his 10th birthday in style. Thanks to the NIH we will get to celebrate many more birthdays with Isaac.

Kathe Barchus: The NIH saved my son’s life.

My son Isaac has had a long journey with his illness, suffering in many ways from muscle pain to high fevers and so much in between.

It all started shortly after he was born and we saw a great many specialists, exhausting our local medical care. As parents, we were watching our child suffer and slip a bit farther away every day; it was a time of helplessness and desperation.

We began researching for any answers and found the NIH website. After some discussion, we applied online to a clinical trial, sending along a detailed history and pictures. Within several months, we made our first trip to the NIH to seek out new hope.

It was several years before we would have a diagnosis, but the team at the NIH never gave up. Our medical team gave us the hope we so greatly needed.

Isaac has been traveling to the NIH for 11 years now and he has CANDLE Syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome), an autosomal recessive genetic disease that is extremely rare. Isaac was failing on our first trip and our doctors turned him around, allowed him to grow and thrive.

Isaac continues to face many health challenges, but he also continues to live life to the fullest.

In those 11 years, Isaac has had several drug trials, met with many different types of specialists, had genome sequencing, and is the only child known with his specific mutation that gives him this auto-inflammatory disease. CANDLE Syndrome affects all of Isaac’s tissues and causes him pain, rashes, fevers, loss of fat, short stature, insulin resistance, hypertension, low bone density, and so much more.

Without research and the NIH we know he would have succumbed to this disease, but today he is on a drug that is targeting the pathway that causes many of his symptoms. This drug has given him a greatly improved quality of life and he is currently very successful in school and church, plays non-contact sports, and has a circle of family and friends that adore and admire him.

He has endured a great deal during this journey and is a pioneer for his disease, allowing for improved care for others like him and also for research that has improved care in other patients with many other diseases.

In an interview for the Children’s Inn Isaac says,

My inspiration is all my friends around the world. I keep my body fighting, so they can see me.

As part of NIH research for autoinflammatory diseases, patients document symptoms with photos. Since they probably see a lot of concerning photos, I thought I would send a smiling photo and hopefully give them a smile.

Bob Riter: I’ve been a medical mystery for 40 years.

For nearly 40 years, I’ve experienced unusual, episodic, and unexplained rashes that mystified every physician I visited. It wasn’t even clear which medical specialty took care of conditions like mine.

I finally learned that I likely had an autoinflammatory disorder and was accepted into a clinical trial at NIH.

During my first visit, I had an incredible sense of emotional relief. They understood what I was talking about. Not only did they understand, they wanted to learn more. They were medical detectives and they were using the remarkable resources of NIH to help me. I couldn’t stop smiling during that visit.

I’m still uncategorized. That is, I have an autoinflammatory disorder of some sort, but testing is still underway to see if a genetic mutation can be found that explains it. This isn’t unusual. These conditions are so rare that it often takes time to find other patients with the same symptoms. Once that happens, our DNA can be compared and common mutations possibly identified.

Going to the NIH gave me both knowledge and hope. I knew that I was on the right path and that I finally had the right team behind me.

Click here to see more of Bob’s story.

How you can help these families and the thousands more who rely on the NIH for care, treatment, and research:

-Contact your elected officials about these issues.  Read more, and follow the tips on how to advocate here.

-Share your NIH story with us! We would love to add more stories to this post, and on our blog! Contact us here if you’d like to share your story.

Donate here to the Autoinflammatory Alliance to help support advocacy, research, and advancements for patients with autoinflammatory diseases.

To read more stories of how NIH clinical research studies help patients:

Click here to Meet Alex – Before and After NIH Clinical Trial

Follow the NOMID Nomad’s journey here.

Read more about Isaac’s story here.

 

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NIH Research Funding Benefits Everyone by Improving Health for All!

The National Institutes of Health (NIH) is the leading source of research funding for health and biological sciences in the United States. The NIH’s current yearly budget is about $32 billion dollars, which is used to fund research across the country. The total U.S. population in 2016 was about 324,000,000, making a cost of funding NIH research about $100 per person living in the U.S.  This money goes to fund grants at research institutions across the U.S. for numerous diseases and health conditions, drug and vaccine development, and much more.

I think that it’s safe to say that the value of NIH research is far more than the actual dollar cost to fund the research. The average family in the U.S. spends more than $100 in a week on food, which is necessary to sustain their life and health. Yet a whole year’s worth of research for all sorts of conditions that could affect a person from birth (or even in the womb) into their old age is being supported by about $100 a year per person in our country. I think that is quite a bargain!

Isaac, who has CANDLE syndrome, celebrated his 10th birthday in style. A birthday that would not have happened without the NIH.

For many the impact of NIH-funded medical and scientific research is felt directly and is priceless, as it has helped to save their life, or that of a loved one. You can read such patient stories here. To learn more about how the NIH helps autoinflammatory diseases, read this post.

NIH research benefits all people, not just those in the U.S. as the advances made to health benefits everyone around the world. This means that over 7.3 billion people benefit from investment in NIH research every year.  Research that can help find better prevention, treatments, and understanding of serious common diseases, diseases that could cause a worldwide epidemic, and even very rare diseases which can lead to treatments and discoveries that help more common conditions.

To continue to make great advancements in health care, the NIH needs more funding, not less!

If you agree, scroll to the bottom of this page and follow a few simple steps to encourage your elected officials and others to support more research funding for the NIH!

This short, entertaining video shows how research funding has made a huge impact on treating common and rare diseases.



The majority of NIH funding supports scientific research around the entire country.

Only 15% of the funds are used at the NIH Clinical Center in Bethesda, MD. This funding provides training for the next generation of doctors and researchers in all parts of the country. In addition to benefiting the advancement of medicine in our society, it leads to innovations that create new businesses and inventions that help the local economy.

United for Medical Research (UMR) has a really useful tool here to see how NIH funding in 2016 made an economic impact and the jobs created in each state with their interactive map.

In fact, this statement by United for Medical Research (UMR) President Lizbet Boroughs outlines that a budget of $32 billion for NIH research actually helps to bring in over $60 billion to our economy, which means that for almost every dollar spent on NIH research, two dollars are returned to our economy.

FAESB image showing the loss of NIH research funding.

NIH research funding, and with it major health and science advancements are in jeopardy.

To some (including our current President Donald Trump) a $32-35 billion dollar yearly budget to fund the majority of biomedical research in our country is too much. Our president wants to reduce the NIH budget by 18-20%, even though funding for the NIH for the past 15 years has not kept up with inflation, and has been reduced at times, such as with sequestration in 2013. This NIH Research Funding Trends report states that:

From Fiscal Year 2003 to 2015, the National Institutes of Health (NIH) lost 22% of its capacity to fund research due to budget cuts, sequestration, and inflationary losses.

That means our current NIH budget already functions at 20% less than where it should be today; adding a deeper 20% cut would lead to a 40% reduction in NIH research funding compared to 15 years ago.

Imagine if a cut this big happened before the Human Genome Project was launched in 1990!

We may not have ever had the Human Genome Project started, or ever completed if it had not been funded by our Congress. Researchers all around the U.S. and the world worked on the project, and led to the discovery of the genetic cause for over 1,800 diseases. This research also paved the way for autoinflammatory disease research. Note that the Human Genome Project was completed in 2003, two years ahead of schedule and under budget!

Please take a look at these graphs from the Federation of American Societies for Experimental Biology (FAESB) that clearly show how the reduction in NIH funding over the past 15 years has caused great damage to research in the U.S., and how further cuts could cause irreparable damage and impact on the future of health care and scientific innovation in our country. Download their informative one page PDF featuring this information with the download button on their page, and please share it with your elected officials, friends and family.

The loss of research funding over the past 10-15 years has caused a deficit in opportunities and training for the next generation of researchers, which will have a lasting and damaging effect on our society.  Further cuts will be difficult to recover from, and the losses will impact our nation, and our world.

NIH-funded research, conducted at academic and medical institutions in communities in every state in the nation, is an engine for medical progress and economic growth. NIH research fuels the pipeline of discovery and innovation necessary to prevent, treat and cure our most vexing diseases and it has a significant economic impact, supporting more than 350,000 jobs across the United States and contributing some $60 billion annually in economic activity. –UMR President Lizbet Boroughs


NIAMS researchers Raphaela T. Goldbach-Mansky, M.D., M.H.S. (left) and Nicole Plass, R.N., M.P.A., U.S. Public Health Service, with a DIRA patient. NIH research has led to the identification and successful treatment of DIRA, a rare autoinflammatory disease.
Credit: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health

NIH clinical drug trials may be someone’s only hope for a future, or for survival.

Clinical trials for patients that are federally funded mean that any patient that meets the study criteria can be enrolled, regardless of their insurance, financial status, or other barriers. For some patients, an NIH study may be their only option in the world to get help for their rare disease.

My son’s first birthday (flaring with his ever-present rash, fever and pain from his autoinflammatory disease.)

As a parent of a child with a very rare autoinflammatory disease (NOMID) that took the lives of 1:5 children prior to adulthood before the NIH study for a targeted medication for this condition, I can attest that NIH research can save, and greatly improve lives. We nearly lost our son at birth due to his disease, then again when he was 13 months old due to life-threatening inflammation and fibrin clots around his heart (pericardial effusion-near tamponade).  In this photo, he was already anemic, weak and flaring with fevers, vomiting and crying from pain and uncontrolled inflammation from his brain to his feet. But he went undiagnosed until he was 3 1/2 years old, and had more complications every year. Thanks to his NIH doctors, he was properly diagnosed, and his medical needs were addressed. He was one of the first patients in the NIH clinical trial with the targeted treatment that has changed his life. Not a day goes by that we are not personally thankful for NIH research that has given our child a future.

The expertise of specialists at the NIH that know such a rare disease, and also collaborate with other experts globally is invaluable. Because of the rarity of his disease, we could not get this level of care locally, even though we live in one of the largest cities in the U.S. and are surrounded by some of the best medical institutions in our state.

Yes, we need to rein in spending and decrease debt, but severely slashing funding that benefits humanity so greatly does not make sense at all.

There is currently debate about how to better rein in costs for research and keep NIH funding more tightly focused, but this is a complex issue. Read more about that here.

I love NASA and all their discoveries, and I was devastated to see the space shuttle program taken out of service a few years ago. I actually had tears as I saw the last space shuttle flown on top of a plane over my city on the way to its final resting place in the California desert. But if I had to choose between funding research for humans on earth, versus the proposed funding a trip to better understand a distant moon or planet, I would prefer more focus on the needs of our people on our own planet.

Cell image: Scientists still have not fully discovered everything yet about our cells. Credit: A. Valm, S. Cohen, J. Lippincott-Schwartz, National Institute of Child Health and Human Development, National Institutes of Health

Many experts feel that cutting NIH funding will actually lead to serious health risks to our country, that could undermine our national security and affect everyone in our country.

FASEB President Hudson Freeze, PhD said,

The proposed cut to NIH is, quite simply, a travesty because it threatens the life of every American, harms our economy, and abdicates the United States’ role as a world leader in research. Advances in biomedical and biological research have improved the health of our citizens, generated new treatments for life-threatening diseases, and enhanced our quality of life. Opportunities for additional progress are enormous and at our doorstep, but that promising future success requires sustained and predictable growth in the federal investment in the nation’s research enterprise. The proposed reduction in research funding is unconscionable and endangers the national security of our country.

Read the full FAESB letter here.

Join the Autoinflammatory Alliance, and other organizations in sharing your opinion on the proposed budget cuts today, to help protect research and innovation for the future.

There are a number of ways to let your voice be heard, and it will make a difference:

  1. Contact your elected officials today on these issues, and tell them how it will impact you and your community. Visit USA.gov and follow the steps to contact your legislators and even the president!  Make your case concise, but personal. Calls and letters are noted.
  2. Rare Disease Legislative Associates (RDLA) has put together a wonderful, concise statement and resources to use here to make it very easy to advocate and let your voice be heard on the current proposed budget cuts.
  3. Download the FAESB’s informative one-page pdf with all their graphs of the impact of NIH budget cuts over the past 15 years by clicking on the download button on their page, to share with legislators.
  4. Visit The National Organization for Rare Disorders (NORD) website for helpful tips and ways to take action here.
  5. Invite your elected official to join the Congressional Rare Disease Caucus.  You can even invite them online here (It takes less than 2 minutes!) Make sure to look at the list of members, to see if your legislators are already members.
  6. Make a donation to support research that you find valuable.
autoinflammatory alliance logo

The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases.

The Autoinflammatory Alliance has and will continue to advocate for autoinflammatory patients on this and other issues.

We at the Autoinflammatory Alliance help as an organization by facilitating autoinflammatory disease medical education and outreach,  collaborating with researchers on various projects, including the Autoinflammatory Disease Damage Index (ADDI) and funding for autoinflammatory disease research. In the past, we have supported Translational Autoinflammatory Research at the NIH with research funds that we have raised, and have helped with costs for the First Symposium on Autoinflammation and Immune-dysregulation at Walter Reed National Military Medical Center (WRNMMC) that was a joint collaboration between WRNMMC and the NIH.

As budgets get tighter, it is more and more important for organizations to raise funds to help specific research to happen in our country. As an organization, we need to increase our research fundraising to be able to directly fund more autoinflammatory research, but we need your help and support to make this happen.

Donations are welcome anytime! The Autoinflammatory Alliance is a 401c3 non-profit public charity. All donations are tax deductible in the US.

If you are interested in directly supporting NIH research with a donation, that is possible. Contact us here to find out more.

For some other ideas on what to discuss for NIH funding advocacy, please read and share these articles:

FASEB Urges Congress to Reject the Trump Administration Budget Blueprint

New Report on Economic Impact of NIH Research Helps Make the Case for Increased Funding

United for Medical Research Statement on the Administration’s Proposed ‘Skinny’ Budget

Other helpful articles with more in-depth discussions on these issues were used to help us develop this blog post:

New York Times: The Real Threat to National Security: Deadly Disease

Science: Report–The applied value of public investments in biomedical research

Los Angeles Times: Drastic cuts to NIH budget could translate to less innovation and fewer patents, study argues

Pacific Standard: This Is How Trump’s Budget Cut Would Harm Medical Research

USA Today: Trump’s NASA budget preserves Mars mission, cuts Earth science, asteroid trip, education

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