Month 3 - Week 1 - Day 1: Life with TRAPS Syndrome

I recently came across the post “WhatNo One Tells You When You Get Diagnosed”, which led me to another post, “Chronic illness and losing your identity”. It was amazing to read that I’m not the only one who’s had to struggle with a major illness. I can’t tell you what it meant to know there are others who understand what I’ve dealt with my entire life.

I've been sick almost my entire life. I have no memories of “life before” my condition. I began to have “episodes,” as my mom and I call them, began when I was about five-years-old. I wasn’t diagnosed until I was almost 26—just over a year ago.

My eyes swell almost closed. I run high fevers. We’re talking 103.6 Fahrenheit.  Petechie formed around my eyes and over my neck and chest. Never heard of that? It’s where your blood vessels burst, resulting in rash-like bruises--small red/purple marks caused by the minor hemorrhages. For three to five days, these marks make me look like I’ve been beaten. My head becomes super touch sensitive; having my hair in a braid can reduce me to tears. Even lying on my pillow hurts, which sucks because I am so weak and tired that lying in bed is all I could do. My neck locks into place so that I can’t turn my head. 

Eating food is hard because my jaw locks shut, and it hurts to chew. I have to get the food through the tiny half-inch opening that is now my mouth. Soft foods work best—mashed potatoes or soup. I also lose my appetite... to the point where, as a child, my parents had to bribe me to eat because I just didn't want food. I’m older now, so I force myself to eat even though I don’t want to.

Did I mention that I become physically weak?

Once--after my mom helped me from my bedroom to the kitchen--I collapsed. Walking the 25 feet down the hall used up all my energy and strength. She caught me and managed to get me into a chair, but my vision went black, and I almost fainted.

As I grew older, I developed intense joint pain that accompanied each “episode.” Usually, this presents in my hip joints, which makes walking super fun. But it also presents in my shoulders. I also developed muscle pain. It felt like my arms hurt from a long gym session where I’d pushed myself too hard.

The first time I had this shoulder pain, my mom rushed me to the doctors. We didn’t know that it was a new symptom of my disease. The doctor told me, and I quote, “I was not having a heart attack” and that teens are often overly-aware of their bodies. He sent me home.

The medicine doctor’s gave me to treat my “attacks” was Prednisone. It’s a nasty steroid that suppresses the immune system. It also has a whole host of other side-effect.  Two of my favorites are the endless hunger and the slowdown of the metabolism. I spent my childhood/teen years in a pudgy/puffy body because of this stuff. And I was taking high doses over several days, once a month.

Then the frequency of my “attacks” increased, and the prednisone started to become less effective. I’d taken it most of my life. It was only a matter of time until my body built up a resistance to it. My monthly attacks became back-to-back “attacks” (Two in one week). Then bi-weekly “attacks.” By August of 2012, my “attacks” were almost weekly. 

I was on the steroids more than I was off them. I felt sick all the time. I was exhausted all the time. 

My doctor had tried to refer me to see the specialists at Stanford Medical Center. Stanford refused to see me. After looking at my files, they said whatever what wrong wasn't rheumatological.

Mentally, I wasn't in a good place.

I knew it was only a matter of time before the steroids stopped working. They barely worked as it was. The “attacks” were almost non-stop. It felt like my body was trying to kill itself and was succeeding. My mom and I began to talk about what to do when that time came. I did a lot of crying. She did a lot of comforting, and reminded me that “when it’s our time, it’s our time.”

During one of my “attacks” my doctor had me hold off on the med’s until I was very ill and then go in to have my blood drawn. This was not the first time we’d done this, but he ordered new tests. The final test before he would send me to another department.

This time something showed up. Nothing huge that screamed a diagnosis, but it was new. My c-reactive protein (a protein found in blood) was high... really, really high. In a healthy person, this protein is <.05. My level was at 5.6. This started a flurry of research for my doctor.

He ordered a genetic test for TRAPS Syndrome, but said, "You probably don't have this. Nobody has this. People are going to ask me why I'm ordering the test for this. But if this is what you have I'm going to brag to all of my colleagues that I diagnosed it."

While we waited for the results of my test, my mom and I researched TRAPS Syndrome. A lot of the symptoms matched up. It presents in young children, skin rashes that can appear like bruising, joint and muscle pain, FEVER, and (this was a big one) a possible trigger for an attack is emotional stress. As a child, I knew if I had a crying bought that I would have an attack the next day.

It took about six weeks for the results to come back. With this test, two genomes mean a person has TRAPS for sure, no genomes equals no TRAPS. I have one genome. Doctors don't know what that means. Does a person one genome have TRAPS? Do they have a modified version of TRAPS? Can they not have it with only one? No one knows because there is not enough known about the condition. 

At this point, there was a lot of sobbing. I'd gotten my hopes up. At last, I'd have a name for what was wrong with me. The most I looked up TRAPS the more my symptoms matched up, no not perfectly but pretty darn close. Now, the doctor was telling me he still didn't know what was wrong.

"I want to start you on the medicine for TRAPS anyway. If it works, we’ll know you have TRAPS. If it doesn't..."

The medicine he wanted me to start was Enbrel, a biopharmaceutical weekly injection. While most medicines come from nature, i.e. a herb, and then people figure out how it can help people, Enbrel was created in a lab for a specific purpose. The FDA has given it a black box warning, the strongest warning they can slap on anything.

My doctor let me know that Enbrel costs about $2000 a month (that’s $500 a shot). Luckily, with President Obama’s recent changes to health insurance, and because I wasn’t 26 yet, I was still covered by my parent’s insurance. Once I did turn 26, the insurance companies couldn’t refuse to cover me because of my pre-existing condition. What this all means is that instead of $2000 a month, I pay $15.

The other fact that had me hesitating with the Enbrel was the whole injection thing. I’ve had a long phobia of needles. I’ve passed out in the waiting room when I went to register to have blood drawn.

Now I’m expected to give myself a weekly shot?

My doctor let me know that Enbrel comes in an epi-pen device so it would be easy. After thinking over the side-effects and the risks, I decided to try the Enbrel. I was sick of always being sick. Sick of whatever was wrong with me interfering with my life.

I picked up my first months doses and... no epi-pen. The pharmacy gave me 4 syringes. I turned lightheaded when I found out that I would have to stab myself in the stomach and push the syringe slowly.

I couldn’t do it. That first month my sister gave me my injections, and as expected I struggled with my phobia. I even passed out once, which scared the heck out of my mom and sister. They thought I was having a negative reaction to the meds and were just about to call 911 when regained consciousness.

After that, my doctor and the pharmacy switched me to the sure-click (the epi-pen!) and while it still hurts, the needle is hidden and once I push the button the pen does all the work.

Now, it turns out that the Embrel isn't enough. I need to be on a clean diet to help keep my inflammation levels low enough for the meds to prevent an episode. 

This means at minimum no ingredients that I can't pronounce can be used in the making of my food, so processed foods are out. The jury is still out on gluten, but I'm probably fine. Maybe.

So there it is. This is what I've been dealing with the past few weeks. I went off the Embrel, and this is why I've been bouncing on and off the plan. After all that, the good news is that I weighed in this morning at 145.5lbs, which puts me at the same weight as before I went off the Embrel. Today marks the start of my second week back on the med and I've feeling pain-free. I'm going to stick to the plan, and weather permitting, I'm going to start taking daily walks. I want to get under 140lbs before I go to my conference later this month.

Thanks for all the support these past few weeks!

Lean and Green - Bison Steak with Baby Bella mushrooms and broccoli in a balsamic dressing