What does TRAPs looks like?

It's a google search I get a lot. What does TRAPs look like? Good question.

This is what it looks like:



The TNFRSF1A gene is located on the short (p) arm of chromosome 12 at position 13.2.
More precisely, the TNFRSF1A gene is located from base pair 6,437,922 to base pair 6,451,282 on chromosome 12.

Yup, that little blip is where all the mutations can occur to cause all this trouble.

More than 60 mutations in the TNFRSF1A gene have been found to cause tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS).

Source

I was tested either for 2 or 3, and because they did not come back positive for a mutation, I am deemed not 'diagnosed' for TRAPs, therefore, I am not able to be funded for enbrel.

With some patients with some various autoimmune or autoinflammatory diseases, there is a nice salmon rash that appears in various parts. Lupus has the 'butterfly' mark, some with Still's Disease get a patchy salmon rash just before their elbow on the inside of the arm.

FMF'ers and TRAPpers really don't have a distinguishing feature except maybe a stereotypical racial identity.

For those with FMF, you're looking at a melting pot of Greek, Turkish, Iranian, Italian people who's forefathers have intermingled. It sometimes appears in Jews of the area but not the entire Jewish population.

For Traps, you're looking at the Scottish and Irish folk who have not interbred with the English. When you have mixed with the general English people, you are more likely to have another autoimmune or autoinflammatory disease, but because of the variations of mutations, you might be affected.

My link back to Ireland is my maternal grandfather who was Irish, however my mother had quite olive skin.

Given that my last name is now Scottish, I sort of fit the TRAPs picture.

The single most identifying feature between FMF and TRAPs and against the 'normal' picture of a person is the fever.


This is in F, of course. For those of us who use Celsius, it's as follows.

Normal Body Temp: 37C
Oral Fever Temp: Over 37.7/37.8C
Rectal Fever Temp: Over 38.05C

I've taken various photos of the 'mask' like redness I get when I have a fever, but all I was told was: "It looks like you have a fever."

There ya go.

What is the difference between an Autoimmune Disease and an Autoinflammatory Disease?

Autoinflammatory diseases (AID) and autoimmune disorders both result from the immune system attacking the body’s own tissues. Both of these disorders also cause inflammation. However, in autoinflammatory diseases the innate or primitive immune system causes inflammation for unknown reasons, whereas in autoimmune diseases the immune system mistakenly reacts with the body’s own cellular components as if they were foreign antigens. Autoinflammatory diseases also have a hereditary component usually associated with a gene mutation.

Source

The article does state: "Attacks of TRAPS can be prevented with colchicines, whereas glucocorticoid steroids are used to reduce symptoms." Which is sooo not the way I want to see doctors treat patients with TRAPS. Seriously, Colchicine makes you poop all day long, you become dehydrated and sore. It doesn't do much at all to stop or shorten flares.


So, while I can't show you what TRAPs looks like, as I don't get an itchy rash on my legs, and I am more affected by fever, inflammation and arthritis, which are all invisible, I can show you what maintaining TRAPs looks like.

This is my morning ritual:



That is Prednisone, Citalopram, Prilosec, Magnesium, Spirulina, and my pain killers, Ibpuprofen, Codalgin and Diclofenac. I take the Seroquel at night. During times of pleurisy, I take the Vick's Formula 44.

Yum!



I often get tummy upsets, either in the form of reflux or just a general upset stomach. I take both Aloe (this is Lifestream Aloe) and Slippery Elm Powder. Slippery Elm Powder is amazing and you should all add it into your diets.



When feeling overwhelmed or tired, I take the Elevit Multi for Women with Children, and when I start to get a bit achy in the kidney, I take Red Seal Cranberry capsules. I often get cystitis and the cranberry works really well to help prevent it.



For stressful times, I take L-Theanine and for coughs that won't settle, I take Wild Oregano Oil. Both are from Solgar and were finds from my friend Anna. (Hi Anna!)



Because I've been on the steroid a long time, I have to take calcium. I often forget as I'm supposed to take it away from cups of tea and as I drink tea all day, I don't remember to take it.


You can see they even upped my dose from 500mg to 600mg twice a day.

And my favourites, my health promoters.



I love to take an apple or two, cover it in squeezed orange juice and have the two together.

Tomatoes, when in season, are also divine. I like the truss kind and find the smell of the tomato vine heavenly.

Predni-Oh nooo-sone

In November I'm going to 'celebrate' my 4.5 year Prednisone anniversary. And by celebrate I mean commiserate on the fact that I'm *still* taking it. And don't have twin 4 year old little girls. And haven't gotten well enough to write the next chapter of my life.

I started the drug at a fairly high dose and those first two weeks were like a dream. You would never have known I was sick. I felt so good my then GP told me to drop off the drug. That was mistake #1, I should have weaned.

I woke up unable to uncurl my hands (again!) and unable to bear weight on my legs. But, it was worse because it HURT all over. I now know that was the body's reaction to weaning immediately from a high cortisone supplement. It feels like you're wringing out a wet cloth. That twisting and burning is in your muscles.

So, that began my continuous supplementation. I've been on all kinds of doses, all kinds of methods (injection being the least favourable) and weaned more times that I care to count.

I'm currently sitting at 5mg and the desire not to wean is so strong I refuse to raise the dose to help this hip. Not gonna do it.

One of the side effects that gets mentioned but doesn't really gain much notice is the small infection abundance. Everyone knows Prednisone lowers your immunity and you get sick more often, but you also get icky infections.

My toes are a bit of a mess to begin with in that they grow nail that don't stop at the sides of my toes and that creates little nicks and pain. I manage by clipping the nails.

I noticed a little lump on the side of my big toe. It didn't hurt so I thought it was bit of excess skin or nail.

I got more curious as the days passed and got some tweezers in there to discover that the lump was a little well of green pus. I cleaned it out and gave it a thorough washing with soap and water.

As the days went on, the skin started pulling back and so I got the tweezers again. This time, the skin peeled away, removing nail with it. Suddenly, there was no skin, no nail and no nail bed. Just big, raw, red toe!

Eeek! I cleaned it, I wrapped it, it hurt!

I took Soph to the beach a couple weeks ago to help with her cough and walked around in the salt water. But that evening more nail came off. There was some nail bed there at least.

In the morning the rest of the nail was completely hanging off and there was green everywhere. I kept it clean and dried and when I saw the GP about my hip, I showed him my toe. Oh, he said. Yes, you get things like this on Prednisone.

Small infections that come about with delayed healing. Nothing big, and the nail bed will regrow.

I got some fancy antibiotic oil based ointment that took care of the infection, but the healing is slooooooow. The cuticle finally fell off this morning. It was hard and stiff like old fashioned plastic.

I think it will be a while before I get to have stylish, colourful toes for summer.

http://prednisonesupport.tumblr.com/ is a new micro blog for people to share their experiences on Prednisone. Mine hasn't been too bad, really.

This is my first slow healing infection in 4.5 years and it's probably been my best year on the drug in the whole run.

It can be managed, life on prednisone, and while it's not considered the best option, you can live on the drug long-term.

Once you find a stable dose, stay there. That rollercoaster of highs and weaning is so hard. And it hurts. If you don't want to raise your dose, you don't always have to. Doctors have NO idea what weaning down is like, so make sure you advocate to your best ability, however, there will come a time when you have to, irregardless of your feelings about it.

The Roulette Wheel of Diagnosis

Dear body, I'd reeeeally like to go to the library today. Could you please stop hurting? Please? (The short answer was no.)


Part of living with something no one understands is that you don't understand it either. You probably 'get' it more than others, but because there is no standard rule, no benchmark to gauge your own normalcy, you always find yourself questioning it. If I hear about Vasculitis, I immediately go re-google it to make sure I don't secretly have it and my rheum missed it.

(PS. If you or someone you love has vasculitis, the John Hopkins vasculitis resource online is AMAZING.)

It's like diagnosis is a roulette wheel. Every time you hear of something, maybe, truly this is it! You race online to see what the symptoms are. Oh hey, that sorta kinda sounds like me. Maaaaybe this is it!!

Nope. No. It isn't. Ok. Next!

House, MD was truly epic for me because people would watch an episode and send me an email. Oh Jen, have you tried Wegener’s Granulomatosis? they'd ask. If I had I'd reply yes, and if not, I'd add it to the list of other possible diseases I'd take to the rheum.

Then, I'd open my speech by saying, "I'm sure you've considered Wegener’s Granulomatosis, but can you tell me why this disease doesn't fit my symptom?"

If it was my trusted Rheum, he'd take a breath, brain going through a million neural file cabinets and comparing my notes to his stored data files. Sometimes he'd actually hold his breath while thinking. I don't enjoy this patient induced torture, truly, but it does make me pleased to have a smart doctor.

Generally, everything comes down to my brain MRI and my lung x-rays and that incredible LACK of elevated anything in my labs.

MRI of brain with TRaPs:




Me:




Depending on who I'm having my appointment with, I can be quite forward and say, "So, let's say this is an atypical presentation of xyz, what is the treatment?"

And believe it or not, the majority of treatments are the same.

Weight loss
Light physiotherapy
NSAIDs
Steroids
Plaquinel
Immunosuppressives
And, if you're lucky, injectable biologics.



Occasionally, like with Familial Mediterranean Fever, you might stumble on success with Colchicine, but it's very rare for a single drug to be SO effective for a disease.



When House did an episode with a father and daughter having Familial Mediterranean Fever, my diagnosis at the time, I received so many emails about it! We didn't see the episode for at least a year, but it was frustratingly amazing that the show featured FMF.



Of course, the father and daughter make a 100% recovery of symptoms after being treated with IV colchicine.

When I saw the episode, I swore off the show for the season. It was so demoralizing that a chronic, incurable condition was waved off with a magic wand of a day of IV drugs. IV colchicine is a last resort, and most patients will still have symptoms of the disease after the acute treatment. They are STILL sick, every day, because it is a Genetic condition. Not a once in a lifetime acute illness.



This is the daily battle of life with a genetic illness. There is often no reprieve from the symptoms, but like everyone else, there are good days and bad days.

At the moment, I am severely fatigued. There just is not enough oomph to force these muscles to work. It's definently a Spoon Theory day for me.

Aside from the fatigue, my muscles are burning all over. In my arms, in my legs, in my chest. I've got that heavy band feeling at the back of my head. I want to be up and active. I want to do so much more. But the burning is practically crippling at times. And then, oddly enough, it abates for a few hours only to come back.

I'm making cottage pie for tea tonight. I love any excuse to have mashed potatoes. However, there is a lot of chopping involve. I've broken it into chunks, approximately 90 minutes apart. You'd think it was a military operation, but no. That's life living with chronic impairments.

I'm feeling quite disappointed with myself in regards to my weight. Last year I felt so healthy and alive and lost about 14kg. My physio kept warning me that strenuous exercise can actually trigger inflammation in chronic illness, especially inflammatory illnesses. But, I didn't listen.

And spent months battling chronic inflammation in my gallbladder.


Mine isn't nearly as cute. However, if you're like me and you'd love to remember your organ as sweet, not painful, then try I Heart Guts.

I've never regained that mobility or freedom since. And, all those 14kg are back. High dose steroids for the gallbladder, fatigue and general, often overwhelming, fear of re-triggering all that inflammation has brought it all back.



I've made a goal of getting 50,000 steps on my stepper before xmas. I need to increase my cardio and try to get back some of my mobility. I'd also like to not feel like a beluga whale in a swimsuit.

Actual Photo of Me This Summer:

Extra Support

I need to find a pharmacist to bother. My own is fantastic, but she is very busy running the place.

She told me that it's generally advised you do not mix melatonin and fluox, or Prozac to the world, as they work in disharmony with one another. Not that there are side effects to mixing the two, but because the brain works hard to synthesize the serotonin into melatonin. Which is why people with insomnia often sleep when they start a SSRI antidepressant. (Which never worked for me, so I take a different kind of drug to induce sleep.)

There is a natural product called 5-HTP which is a natural form of serotonin. Solgar, the vitamin people, have the product on the pharmacy shelves. I don't know if it's chemist restricted, as I haven't seen it in the grocery store, but it seems to help with irritability and sleep problem. It's also suggested for those who struggle with mood disorders.

And yet, melatonin is barred from general consumer purchase?

I'm wondering if you can supplement 5-HTP instead of the melatonin and whether you could safely take it with Prozac, or instead of the prozac altogether. Dosing for children may be difficult to decipher, but it may be worth the hassle to avoid a) the stigma of having a child on an AD and b) the increase in self-harm behaviours in kids with autism.

I think I need to do more reading on what triggers and supplements these two hormones naturally. As anxiety is a learned response to stimui, therapy and medication are probably still needed, so it seems the fluox will still be needed, however, if natural serotonin works in mood disorders, it might just work to kick start the anxiety relief.

The 5-HTP is cheaper than the melatonin, if you include the rx cost, and it's available without issue. I wonder if I bought my pharmacist some nice chocolates whether she'd call the paed and discuss it with him. Not that he's anti-natural therapy, it's just that he's so busy with oncology that I don't want to bother him, especially if I don't have the knowledge to back up my desires.

Argh. Think. Think. Think.

Melatonin

This is mainly written as a resource for parents in New Zealand looking to start Melatonin in their child.

Our super brainy oncologist Paed (honestly, I'm not sure how we got blessed with him, but sometimes prayers get answered) often uses a drug called Nausicalm (Cyclizin HCl) in his cancer patients to stop vomiting nausea, however, it can also be given to children ages 6 to 12 in 1/2 tablet doses as a sedative. However, sedation with this is generally restricted to acute cases of distress, or, when the shit hits the fan and your paed is away. This is what the GP prescribed. I found it generally only effective on an empty stomach and that the full adult dose was needed (50mg) to stop the intensity of night time anguish.

It was suggested we look into getting Melatonin for Soph as it is a synthetic version of a naturally occurring hormone in the brain. It's something you can easily buy in the US for under $10 a bottle.

However, in NZ, it is restricted. You need to get a script. I'm not sure if it must come from a specialist, but my pharmacist said that most GPs would be equipped to write the script, so I assume it is not specialist only.

30 tablets cost $18.90 for 1mg. However, most people need more than 1mg, with children reaching accumulated doses of 10 to 12mg per night. So, if you can get the script from a hospital physician, this will reduce the cost as you do not pay for the Rx.

I'm unsure whether you can ask for repeats in the script so you do not have to go back to your doctor monthly.

On the first night, 1mg made Soph super drowsy for about 3 hours before she fell asleep. Last night she was up until 10:30pm, as it had no effect.

You can see this becomes a rather expensive venture when one considers that a dose of 5mg a night will last 6 days. You would be spending $56.70 a fortnight to sustain that dose.

My script tells me to increase dose to 2mg in one week should the initial dose fail to sustain a sedative effect.

I suppose one might apply for a child disability payment for the medicine as it is not covered by Pharmac and most likely will not be refunded from Southern Cross.

You can also try www.cherryvite.co.nz for a natural occurring source of melatonin, the tart cherry. Grown and made in the South Island, you pump 3 squirts of the cherry vite into a glass and take it at night. I have not had much success with getting Soph to take it, however, it might be worth a try for those trying a lower doses tablet and want to avoid the extra expensive of doubling or tripling a dose of tablet melatonin.

You can also get capsules if your child can swallow gel caps. However, it too is not cheap and it seems almost irresponsible for the govt to not provide children with autism or ADD/ADHD disorders with a relatively side effect free drug in favour of supplementing chemical drugs they've bought cheaply in bulk.