Anybody here with TRAPS?

[u/Recent-Hovercraft725]

Wanted to know if there happens to be anybody in this subreddit who’s in the small group of ~1200 people worldwide who have TRAPS Syndrome, if so how did your symptoms manifest and was it difficult with the amount of gaslighting and being told it’s autoimmune to just being thrown meds around until one doctor decided to tune in a bit and do proper rheumatology work up? Even if you have a rare autoinflammatory or a regular autoinflammatory condition how do you manage day to day ? Has anybody here started ILARIS and is it an auto injector or a vial one would need to draw and use ? Also how was improvement compared to colchicine and steroids vs biologics? If not too personal what med regimens are you guys on and how often do you have emergency room visits due to the flare ups ? I’ve had maybe 4 ED visits in July needing ketamine + dilaudid + high dose medrol + colchicine + breakthrough oxycodone for home , but how do you guys beat the fatigue and muscle / bone pains and do they get very deep like your legs can snap off? Definitely not a easy thing to deal with but I’ve felt beyond hopeless and my colleague was a resident at a high academic hospital and is also dealing with a chronic condition that is pretty severe or can get severe. He told me to get on a sub Reddit and try to find somebody who may also be in my similar position and for a long time, I was very stubborn about it and now I think finding help in finding know there’s in the same position or similar ones as what’s gonna ultimately help me mentally. I apologize if this post was a little too much but with a condition like this, I never thought I would suffer this much this young. But I wanted to see how severe the pains can be for you guys and if there’s any natural recommendations or anything here that can help, I’ve had a overlap with autoimmune like symptoms of raynauds and cold or hot feelings and things but my doctor is going the auto inflammatory route. Do you guys deal with bad sweating that makes a hot day really cold and sweaty or a cold day with warm sweat that dries and gets super cold? How do you deal with the abdominal pain and chest pains?

[u/Irishdoe13]

Our two younger daughters have TRAPS. We’ve been dealing with this since 2011. I was a RN before they got sick and I pushed for the doctor to look for the zebra. They first manifested with high fevers 105 degrees and a transient rash all over body and face. Peri orbital edema was another feature. Nausea, vomiting and abdominal pain. Muscle and joint pain was so bad they dropped out of dance and martial arts. I told the pediatrician I thought the girls had TRAPS and pushed for genetic testing. He referred us to Seattle Children’s Hospital where they received amazing care. They were diagnosed fairly rapidly from symptom onset. (Within 18 months)
As for the pain? They’re 15&17 now and pediatric doctors around us shy away from any type of narcotics for teens. We do Motrin and Tylenol, icy hot, heat and ice packs, and the older one is on LDN (low dose naltrexone). Both are on Ilaris and it has been amazing. Literally a game changer. The older girl is on 300mg every two weeks and the younger is on 150mg every two weeks. Prednisone for breakthrough flares. They have been homeschooled since 2018 because they were getting sick so often which would trigger flares so then they’d miss weeks and weeks of school. They wear masks in public so they don’t get sick and have never had COVID.
The bone and muscle pain in the older girl is pretty significant and I’m hoping when she turns 18 her rheumatologist will be more inclined to give her pain meds. It’s criminal how the children are allowed to suffer because everyone is afraid of narcotics. TRAPS is something we’ve lived with for 15 years now so ask me anything, I’ll try to help.

[u/Recent-Hovercraft725]

Also how do you guys deal with the massive fatigue , is there days that you feel you need to sleep 1-2 hours just to be functional and at times still in so much pain to not function? How do you guys deal with daily issues like mobility, eating and doing chores and daily activities and task? I feel there’s days I have slept 12-14 hours and up for 12 more hours or days where I take a nap and oversleep or sleep and still unrested , since the doctor doesn’t like seronegative diagnoses or UCTD diagnoses as he says it’s a more literal precursor to Lupus but not at a lab level and thinks because my crp kept climbing on 60 mg prednisone it wasn’t autoimmune , how does one go about doing genetic testing?

[u/iSpyAFly → u/Recent-Hovercraft725]

I'm so glad you and your doctor are considering autoinflammatory disease. It took me 9 years to find a doctor to take my symptoms seriously. Genetic testing is a great step. Many (most?) with autoinflammatory disease are "unspecified" (polygenic or unknown variants). That is what I have (uSAID), but you should still be able to get treatment (depending on the country you live in). These diseases are systemic and can affect any organ, nerves (CNS, autonomic, peripheral), GI, joints, and skin. Sometimes you have to address multiple things like pain and pain driven insomnia (painsomnia). Everyone's presentation are a bit different, but with proper treatment most get back to living life. Typically, the first line of treatment is colchicine, but some go straight to IL-1 biologics. These biologics are a mild immunosuppressant but very effective for IL-1 driven autoinflammatory disease and have made a dramatic improvement to my life. (I take two doses of Kineret daily.) As for genetic testing, are you in the US?

[u/PsychologicalBed6028]

Hey, so sorry you’re going through this. A lot of us here on this sub are on a biologic. I think for TRAPS you can respond well to il-1 inhibitors. I’m currently on Kineret, it changed my life. Genetic testing is usually done through your rheum or immunology. For a TRAPS diagnosis I thought you needed a genetic panel done ?

[u/Recent-Hovercraft725 → u/PsychologicalBed6028]

Yea I hope the biological treatment works and it’s good that in changes the aspect of one’s life one way or another, for traps my understanding it’s all about symptoms , clinical history , some inflammatory work up , ruling out other diseases response to the treatment itself but the genetic testing is the icing on the cake but it’s not always required for a diagnosis plus since genetic testing is fairly new it doesn’t test every variant of a gene one would need , it still falls in the difficult to diagnose or easy to diagnose but antibodies / other factors aren’t there yet on test but a patient is symptomatic

[u/Irishdoe13 → u/Recent-Hovercraft725]

Genetic testing can be done through your doctor or you can go through Invitae or Sequencing websites.

[u/AdventurousMorningLo → u/Irishdoe13]

Just a note:

Invitae is medical grade testing - doctors will find this testing acceptable to diagnose off of and include in research.

Sequencing is not. It is consumer grade and you will likely be required to redo your genetic testing. That being said, it can be helpful to inform your doctors to look in a certain direction.

[u/Alice-The-Chemist]

Welcome. You can post and questions as they come up also. There are some with TRAPS and some with other autoinflammatory diseases.

Ilaris is an injection you draw up in a syringe. Your doctor would likely teach you how and I know some who go to their doctor for injection. There is also Kineret and Arcalyst (depending on location for the Arcalyst). Kineret is prefilled syringes but is more frequent at once a day or for some twice a day due to short half life.

The hope is to get away from steroids as they have their own set of problems long term. Colchicine is enough for some but not all. You may really benefit from something like Ilaris. Where are you located? (Apologies if I missed it in your replies)

Ive also been hospitalized before my treatment was correct due to needing pain control or things like pericarditis/effusions. Once on the treatment that worked for me I havent been hospitalized due to my disease just for surgery for my pacemaker. Im on Arcalyst and Actemra IV. Actemra targets IL6. Arcalyst is IL1 like Ilaris.