TRAPS Life Without Proper Medication – My Story

Written by Claire

I’m not too sure where to begin regarding my thoughts on no treatment or non-medical treatment for TRAPS (TNF-receptor associated periodic fever syndrome) and other autoinflammatory diseases. All I know is I have so much to tell you of the consequences of a lifetime without treatment. 

Hi, I’m a woman in my mid-50s with TRAPS. I was diagnosed approximately eight years ago .

As a child, I was sickly and spent a lot of time in Sick Kids Hospital in Toronto. Back in the sixties, no one knew what I had or what was going on except I always had blood in my urine and had issues with my digestive system. Then it seemed to have disappeared except for the rare flare at Christmas, Easter, or birthdays.  My mom always thought I was a delicate flower so too much excitement, too much of anything was very controlled.

I grew into my twenties and like most of us in my time, I got married and started a family. It was the healthiest time of my life! I had the energy of three people. I was on top of the world. Nothing could stop me or bring me down. Great family, awesome children, best career ever…I was unstoppable! 

Then I turned 35. 

I woke up one morning unable to move. My youngest son stayed home from school that day–his first time ever missing school. I was so weak I could not even sip or hold a juice box. My husband was out of town working so all I had was my young son. He ran to a neighbor’s house. They came over and could not believe how swollen and distorted I looked. Immediately, they called 911. The ambulance  arrived and they took one look at me and said,  “I hope she makes it to the hospital.” I was in total organ failure!  This was the beginning of my nightmare. I was in the hospital for weeks. That year I had three major flares. I had a hysterectomy and was  diagnosed with everything from lupus to a rare form of lymphoma. Needless to say, my life changed tremendously. 

The next decade and a half brought countless doctors appointments, most telling me, “we know something is not right” and others saying, “it’s all in your head.”  It cost me my marriage, my security, and life as I knew it. 

One day I was in the emergency room with a swollen rash everywhere and my c-reactive protein (an inflammatory marker in my blood) at 465. I honestly thought, “Today I’m gonna die not knowing why…perhaps during my autopsy they will figure it out.” Sadly, that gave me comfort. A young doctor, his first week on the job, walked by me, stopped, pointed, and said, “I know what you have. I’ll be right back.” I thought, “Buddy, you’re just another *bleep* who will get my hopes up and then call my crazy.” He came back with a rheumatologist  (who is still my doctor), and for the first time explained to me what they believed was going on and what we needed to do to prove it. So we did genetics, countless hours of documentation, and countless hours of submitting applications for biological medicine only to be denied.

TRAPS periodic fever syndrome
With genetic testing, small mistakes in DNA that can cause systemic autoinflammatory diseases can be found, which can lead to a diagnosis and better treatment for patients with periodic fever syndromes. Learn more about genetic testing here.

Eight years have passed since my confirmed diagnosis of TRAPS and my only effective medicine has been prednisone. I have tried Humira, Enbrel, and a few more that never helped me.  I was too far gone for those medicines. I have not been able to get access to the treatments that are more effective for TRAPS. The inflammation  with no proper treatment over decades put me in a very terrible position. I could no longer work and enjoy my lifestyle.

Amyloidosis, high blood pressure, kidney issues, eye issues, and liver issues were the first to crop up. During this time, I was still flaring and being treated with prednisone. Almost four years ago I had a flare, a  real bad one, and was on Enbrel at that time. I ended up blowing my L3, L5, and S1 in my spine. It was classified as catastrophic. I am still in therapy after learning to walk again and my bladder stopped working. I now have a pacemaker in my right bum cheek attached to my spine so I can urinate and use my bowels, plus I have a multitude of issues that come with a spinal cord injury. For a long time Enbrel was blamed, but with evidence from many  x-rays, we now realize that constant, prolonged, untreated inflammation was to blame.

Needless to say, I wish I could turn back time.

I’m telling you my story so you are aware that this is what happens when you are not properly treated or are not any treatment plan for autoinflammatory syndromes. It angers me to see parents go through years of doctors and tests and stress with their children, only to resort to tart cherry or diet*, or nothing at all.  If you have the option of a biological treatment that could stop unseen inflammation from destroying your children’s body in the future, why would you not try it? Treatment plans are not always convenient, easy, fashionable, or 9 to 5. They are designed to treat your child now, so that in the future they can live a happy, productive, and healthy life.

I share my experience to show what happens when treatment is never given or comes too late. 

*Research has shown the most effective treatments for TRAPS are biologic medications that target the cytokine Il-1. Tart cherry supplements and diet are not proven treatments for any periodic fever syndrome. Read more here to learn about TRAPS.

How Do You Find Normalcy with a Chronically Sick Child? When Does Life With a Periodic Fever Syndrome Become Normal?

“365 Days of Anakinra Shots.” Virginia was born sick. At just a few days old she had already needed a blood transfusion and surgery, and had unexplained rashes and joint swelling. By 6 months old she got the diagnosis of NOMID and was able to start treatment. Normal for her includes a daily shot, which lets her live a healthier life. Photo by Katherine Buster Whitworth.

Having a chronically sick child means your world gets turned upside down and inside out. You no longer get to live the normal life you once had or imagined for your child and your family. Routines change, friends may change, finances change, and you can feel like life is just chaos.

Nothing seems normal anymore as you spend more of your time with doctors and nurses instead of family and friends; your craft table may now be covered with notebooks and photos documenting symptoms instead of piles of designer scrapbook paper, vacation photos, and glitter pens; you may become more concerned with blood test numbers rather than report card grades, and you read the latest medical literature instead of the latest best seller.

For families dealing with a periodic fever syndrome (aka autoinflammatory disease), watching their child battle recurrent fevers, rashes, joint swelling, and pain becomes part of every day. These symptoms are due to a malfunction of the innate immune system and are not contagious to others. But because these symptoms are debilitating and can appear at any time without warning, it’s hard to make and commit to plans which makes a sense of normalcy seem out of reach. (Learn more about periodic fever syndromes here.)

Koen (who has uSAID), spends a lot of time in hospitals and with doctors. But he still has much to celebrate like being able to attend the first day of high school. When chronic illness works it’s way into normal everyday life, you learn that everyday moments like going to school or attending a birthday party are moments to cherish. Photo by Cat Lichtenbelt.

An invitation to a birthday party, a normal childhood activity, becomes an agonizing decision for a parent. Not because there’s a soccer game at the same time which would be a normal conflict, but because their child may suffer later with flares of fever and joint swelling. Or the excitement of the upcoming party may have already triggered a flare before the party even starts. Do you let them go and do normal kid activities and try to explain to others at the party that they are not contagious, or turn down the invitation and protect them?

This loss of normalcy can make parents and kids feel isolated and grieve the life they knew and had before the illness took over their world.

So how do parents and families find normalcy with a chronically sick child? When does life with a periodic fever syndrome become normal?

Here’s how the experts, who are the patients and parents of patients in our autoinflammatory community, answered the questions.

Our normal is not others’ normal. For years of my kids’ childhoods, and entire lives of previous generations, it was normal to be in pain, covered in rash, and exhausted at the end of the day. It was what it was, and they all assumed there was no treatment – because there wasn’t one until relatively recently. In fact, they didn’t even have a proper name for it. My husband grew up feeling like a weakling because he thought everyone else experienced what he did in cool temperatures.

We’ve had to adjust expectations for our kids from, “You can do anything,” to “Do what you can.”

My 13-year-old asked me the other day, “You know when you come inside from the cold and your skin feels like it’s on fire?” “Uh, nooo.” That’s her normal, and she’s never known anything else – that is until she got proper treatment.

My kids’ current normal is daily injections that prevent most, but not all symptoms. My husband’s normal is nearly daily symptoms even though he doesn’t work anymore. Our overall normal is tired. So tired.

We’ve had to adjust expectations for our kids from, “You can do anything,” to “Do what you can.”

On the exterior, my family looks normal, and that’s the hardest part. You can’t see their pain and fatigue and anxiety. You can’t tell that their short fuse is due to exhaustion and pain…

They look normal, but have limitations. We went to the Texas State Fair last year and I rented a wheelchair for when they get tired. Since they look normal and were intermittently active, there was actually a guy who said, “Now, I KNOW that girl doesn’t need that wheelchair. I just saw her at the tractor pull.” I screamed back at him that she has arthritis because that’s something people can understand. He didn’t even turn around. I spent the rest of the afternoon in a red haze wishing I had walked after him and made him look me in the face and say it again, and then tell him to apologize to my daughter.

Her normal is not my normal – is not her sister’s – nor her dad’s. Even amongst them with the same diagnosis, they have individual normals.

On the exterior, my family looks normal, and that’s the hardest part. You can’t see their pain and fatigue and anxiety. You can’t tell that their short fuse is due to exhaustion and pain, so they just seem like jerks. If my kid doesn’t want to look you in the eye to speak, it’s so she can actually speak in that moment. Her normal is not my normal – is not her sister’s – nor her dad’s. Even amongst them with the same diagnosis, they have individual normals.

You’ll find a groove and accommodations to make your own normal.

– J.E., FCAS family. Learn more about FCAS, a form of CAPS here.

 

It’s a journey.

You will have a new norm. Hopefully you’ll get a diagnosis and appropriate treatment that will make it easier to create your normal. During the time it will take to get to that point, (and have perhaps time to have meds adjusted for best efficacy) you will grow to accept your new norm and before you realize it, you won’t remember life being so different “before.” Good luck to you. It’s a journey.

-S.S.H., mom of a child with CAPS. Learn more about CAPS here.

 

It’s very draining when you’re the main caretaker. For me, what has helped is to have a plan in place for when my son flares. I’ve started taking people up on their offers to help. When my son is sick, my daughter hangs out at the neighbor’s for a break. I’ll drop her off at a friend’s house, or I’ll take my neighbor up on that offer to pick some things up at the store for me. My husband works a lot and travels a lot, so if he’s here, I get out when I can (or I go crazy spending days as a human cushion). He’s understanding as he has an autoimmune condition, so I’m often doing double duty.

For me, what has helped is to have a plan in place for when my son flares. Now I’m finally accepting my “new normal,” like everyone has said, and just planning for it.

It seems like it’s a process. At first, I didn’t know what was happening and dealt with it, then searched for answers and did a daily calendar countdown, then got depressed and was afraid to schedule ANYthing. Now I’m finally accepting my “new normal,” like everyone has said, and just planning for it.

-M.K., mom of a child with PFAPA. Learn more about PFAPA here.

 

Many times, my sons are too sick during uncontrolled flares to participate in much. However, if they insist on not missing out, especially now that they thankfully respond fairly well to treatment, then I listen to them. Their quality of life was so poor when I cared about what others thought (I’m over that now lol) and when I followed normal rules of staying home when unwell. I think I pushed past that notion because hanging out by yourself when chronically unwell stinks. Now we let our boys decide what is best for them, and if they choose to go we explain to family and friends that they are not sick with something contagious.

Their quality of life was so poor when I cared about what others thought (I’m over that now lol) and when I followed normal rules of staying home when unwell. Now we let our boys decide what is best for them, and if they choose to go we explain to family and friends that they are not sick with something contagious.

We are currently on a weekend vacation at the beach. Yesterday, one of my sons (not flaring) asked to stay at the beach house instead of going to the beach. He knows his body best, so I said of course. He enjoyed playing quietly with Legos and reading books during the morning instead of sun and swimming. He slept that afternoon and was able to join us for swimming after dinner. His brother was untreated this time last year and was flaring very badly at our beach trip last summer. He still insisted on participating anytime possible. Both of those were the right decisions for them. My sons’ disease will be lifelong, so knowing their body and setting their own limitations is important.

-K.F.B., mom to twins with uSAID/IFIH1 mutation. Learn more about uSAID here.

 

We learned a long time ago to let my daughter decide if she feels well enough to participate in activities. Honestly, if we held her back from everything, she would have no enjoyment in life.

-S.T.L, mom of a child with HIDS. Learn more about HIDS here.

 

We had absolutely NO help for eight years of the hardest times, and even had to downsize to a car from our van, and live in a two-bedroom apartment (with three kids) and it was really bad mentally for me. No treatment, no help, 3 kids flaring all on top of each other. I honestly spent a few years in what I call, “robot mode.” I just did what I had to do to get through it, but didn’t feel like I was living.

My husband is the sole breadwinner, and a firefighter, and also was not aware he had CAPS. So, during that time, he would come home and be exhausted, and had these rashes he was hiding, and having a harder time hearing. All his sick leave was used for the kids. My parents would come to visit, but every single time the kids would end up flaring or getting sick as soon as they left, so it would stress me out more as they would come and ‘have fun’ and then we would be left to pick up the pieces. I think being cooped up in a small apartment is what made it all worse!

I don’t let it get in the way of our fun, but it’s still there, as I know at any moment the kids could get really sick or we could have an issue with the medicine. I know not to take for granted their current health status.

I had a lot of anger over feeling like we lost years of our life due to having no answers. Now that the kids are finally on a treatment and we now are renting a house in an area with access to lots of free fun things, I am trying to take advantage of the good times. I think the biggest fear in the back of my head is what if this ‘good period’ comes to an end. I don’t let it get in the way of our fun, but it’s still there, as I know at any moment the kids could get really sick or we could have an issue with the medicine. I know not to take for granted their current health status.

Oddly enough, in some ways I feel luckier to have three kids with CAPS as they all understand each other. If one is feeling bad, the others bring them lunch, set up the tray table, and get the iPad going. Plus, they all have to get the shots, so it was easier to accept that as their normal.

-J.V., family with CAPS. Learn more about CAPS here.

 

You will find a new normal and as things change with the illness for better or worse you will find another new normal. You lean heavily at times on those who understand and help you through. It isn’t easy but you will discover that you are stronger than you ever imagined, not by choice but by need. You are an amazing person and you will figure it out.

-K.C.

 

I think sometimes it’s hard to see outside of your own distinct stage in this journey. I remember the beginning of our journey, and I did grieve the loss of healthy children. Sometimes I still slide back there even with a good support system around me. I have learned to take people up on their offers to help. It was hard for me to learn that it’s OK to be the needy one sometimes. That is not my personality…I struggle when I’m not the one giving. However, I have found that while I have the most wonderful tribe of close friends (that group changed some as I did lose certain friends over having sick kids all the time) and a supportive family, that’s been a process. There were times when some family/friends were frustrated hearing about it, like it should be going away by now or something. I learned that my circle of support system was going to be different (and smaller) than I thought, but that the few people in it were going to be absolute rocks to me. They are the ones who can laugh about the ridiculousness of certain doctor appointments with me and who are fine with my kids running fevers at their houses, who treat my kids as kids and who see them for who they are as people, regardless of a possible pretty scary diagnosis. You will figure out who these people are in your life too, but it wasn’t quick for me.

I learned that my circle of support system was going to be different (and smaller) than I thought, but that the few people in it were going to be absolute rocks to me. You will figure out who these people are in your life too.

I am different now, so I’ve reminded myself maybe that’s why my friend group has changed a bit. The ones who were enjoyed hanging out with me only because I’m fun and humorous and relaxed and spontaneous…they had more trouble with the new me who spends a great deal of time researching, worrying over making the “right” decisions, and going to appointments. I couldn’t see this other side at the stage you’re in. It’s a better side, though.

This rare, chronic world is unfamiliar territory, but it becomes a lot easier to navigate with time.

-K.F.B., mom to twins with uSAID/IFIH1 mutation. Learn more about uSAID here.

 

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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.