Hope Lives

My son who is now in medical remission from SJIA and his sister who has juvenile arthritis (JA) enjoying healthy times at a recent baseball game.

I remember when my son was first diagnosed with an autoinflammatory illness, systemic juvenile idiopathic arthritis (SJIA). It seemed like nothing was helping. It was very frustrating, not knowing what to expect, and not knowing why he wasn’t getting better. Surely the doctors can help him, can’t they? But nothing they did seemed to make a difference.


It became very difficult to hear stories of children who had been diagnosed more recently than my son, who were in medicated, or even unmedicated remission. I was jealous, and couldn’t stand to hear that someone else had what I was so desperately looking for.


But there is hope. I didn’t rest until the doctors found the right medicine to help him. I was a mama bear and persisted and now, he too is in medicated remission.


So if you’re struggling because things aren’t helping; if the treatment just doesn’t seem to be doing any good, keep pushing.  Hopefully there is is a medicine out there that will help your or your child’s symptoms. If not, keep working for more research. There is hope. New medicines are being developed all the time.


Researchers are looking for a cure. When they make a discovery, often a new medicine is developed from that new knowledge. New resources are continually being introduced for the person whose symptoms are resistant to current treatments. 


Don’t give up! There is always hope.

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.





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.