Dr. M thinks I “may” have what is called a “Periodic Fever Syndrome.” My head is literally about to explode with all the new jargon and acronyms. TRAPS, HIDS, TNF... WTF! Ahhhh.
The results of the genetic testing (7 genes are tested for mutations) for this syndrome may take a couple of MONTHS. Ugh. More blood tests, more waiting. However, I’ve been reading a bit online about periodic fever syndromes and I don’t really think I match up with a lot of the symptoms. But I guess we’ll see.
Dr. M did some regular blood tests today too – some of which are still pending but some are already back - my hemoglobin is 11.3 (never been this low before!) and my hematocrit is 34.3 (low). Ugh.
Anyway, Dr. M says that there are 3 possible scenarios:
1.
My fevers are due to the smoldering myeloma/MGUS
2.
I could have a periodic fever syndrome AND smoldering myeloma/MGUS
– two separate entities
3. The periodic fever syndrome is primary and is
CAUSING the smoldering myeloma/MGUS. In his words it would no longer be "monoclonal gammopathy of UNCERTAIN signficance" but "monoclonal gammopthy of KNOWN significance."
I’m hoping for scenario 3 because if I get treatment for these
fevers the SMM/MGUS COULD POSSIBLY GO AWAY. I almost fell off my chair when he
said this. Treatment for this syndrome would be a “TNF Blocker” which might
mean an injection once a week. YIKES.
This could possibly be a total game changer, folks.
When I was changing into the gown for the physical exam Dr. M
was gone a really long time. After the physical exam he explained he was gone so
long because he was emailing this doctor at the NIH because if I do have genetic mutations in the Periodic Fever Syndromes Panel he would want me to
go there to see him. He seemed really excited I could get a “free trip to the
NIH.” Hah. I'm already GOING there in February for the Natural History Study of MGUS and SMM! More trips, more doctors.
Dr. M said I’m a “zebra”… a term I’ve never heard before but google says its
medical slang for “surprising diagnosis.” Apparently, "zebra" refers to an admonition med school professors often give their students: "When you hear hoof beats, think of horses, not zebras." It means, when presented with symptoms, first think of the common conditions that cause them, before looking for the rare ones. But...
I'm the really attractive one with the mouth open... :)
So we'll see. Honestly, I am still trying to figure out all
this new jargon and wrap my head around everything - don't want to get my hopes up too high. Never a dull moment these days!
Elizabeth,
ReplyDeleteSounds like your doctors are really exploring all possibilities, which is wonderful. I am keeping my fingers crossed for a good result for you one which can be treated easily and without the SMM or MM side effects! I have never heard of periodic fevers, I just have neuropathy in my hands at night and sometimes in the daytime. Have they discussed the Zometa infusions anymore with you , those help with bone issues? I would recommend taking all their tests, whatever they have, to get to the bottom of your problem..... Good Luck!
Thanks, Keith! Yeah, we'll see what comes of all this - I'm really interested to know what my hem/onc thinks. My doctor talked a little bit about bone strengthening infusions in September and my most recent note says that I will be starting them! HA. We'll see. I see him in a couple weeks so I'm planning to ask him then.
DeleteYou're the most beautiful zebra I've ever seen!!!
ReplyDeleteLOL! xo
DeleteAt least you aren't being examined by Dr. House who would probably call in someone to fit you for horseshoes...LOL...
ReplyDeleteHa! Seriously! :)
DeleteHey Liz!
ReplyDeleteHave you had your complement levels tested (c3 and c4 usually)? Wow, our stories are so similar! Periodic fever syndrome was suspected with me also, however my temp is elevated almost every day! What level is your temp normal at? Mine generally doesn't got higher that 38.2.
It's stef here by the way:)
DeleteHi Stef! To be honest... I'm not if I have had my complement levels tested! Not sure what that even is. I've had a lot of blood work but I don't see anything that sounds like that. I've been taking my temperature since seeing the ID specialist - he wanted me to take it when I first get up and then at 7-8PM. My morning temps are usually 97.9-99.3 F and in the evening they are a bit higher. When I have a fever it ranges from ~100.5-103 F.
DeleteHey Liz,
DeleteAhhh ok, mine ranges from 99.3-100.94. It never goes beyond that. The chronic elevated temp, night sweats and weight loss are what prompted the beginning of all these tests - I had been feeling horrible however put it down to all of my pelvic surgeries. The complements c3 and c4 are usually tested if an autoimmune or auto inflammatory condition is suspected. The complement system is pretty much an augmented part of the immune system. My c3 and c4 were both deficient, however c3 normalised following 6 months on prednisone. You could ask your rheumy if they are worthwhile testing? With regard to your other comment, I had a bone marrow biopsy and aspiration performed in Feb of 2010 due to a suspicion of lymphoma, however I'm pretty sure it didn't show anything too interesting. I had experienced high Lambda light chain levels once prior to that, but I figured it was a lab error. I am now beginning to wonder. I'm really sorry to hear you are having so much trouble with sciatica, I had it got a long time due to pelvic issues (thankfully it's now completely resolved), so I understand how painful it can be. The pain I now get is a deep bone pain from the knees down. How are you getting on with fatigue? And have you noticed any other symptoms? I love your attitude so much! You are one of the only other ppl I have met with serious health issues that maintains such a positive outlook, so you should consider yourself a very special lady:) xox
Hi Stef!
DeleteThank you for the nice compliment! Trust me, I have days that I am not that positive - but I try not to let it show in the blog. :) I was experiencing fatigue and frequent headaches but ever since my biopsy in July I have been very dedicated to exercise and healthy eating. I was never really unhealthy, but I am definitely now avoiding sugar, eating less processed food, and trying to exercise almost every day. My leg pain isn't permanent, but it does take a while for nerves to heal. I don't have any bone pain; that must be awful. I hope your doctors give you some answers and you find some relief soon!
Take care,
Elizabeth