Wednesday, March 26, 2014

Today's Headlines

Some very interesting snippets in the news today.

Potential treatment option in the works for CFS.  A company has combined a specialized supplement for mitochondria with low dose ritalin that seems to work for CFS symptom improvement.  It is currently going into a double blind placebo study (the gold standard).  BTW, it is being developed by a man that suffers from CFS himself.  Woot!!

The next potential treatment is an antiviral drug being tested on fibro patients.  It is further off on the horizon though.  It has completed phase 1 and phase 2 trials (animals and small batch of humans) and now is raising money for phase 3 (double blind placebo on a large cohort).  It will be a few years before patients will be recruited, whereas the ritalin trial is already in the recruitment phase.

And in the way way far off future.  It appears that someone has figured out how to flip genes on and off.  Now this sounds minor but this can have a MAJOR impact on the future of medicine.  If I could go in and fix my MTHFR genes, then I would probably get way way better than I am.  Potential fully cured.  Right now the only discussion is around cancer cures but anyone with a genetic problem should be jumping for joy with this breakthrough.

Then we have this: a bacterial Frankenstein....
This just scares the crap out of me.  Then again it might be harnessed for good.  One hopes anyway...

Tuesday, March 18, 2014


MTHFR or MethylTetraHydroFolate Reductase Deficiency or as I like to call it the MotherF**ker defect (yeah, I know, rude, politically incorrect but damn if this doesn't screw me up good).

I have at least two defects in my MTHFR genetic pathway.  This inhibits methylation and allows homocysteine to build up in my system.  Here is a series of vids explaining the genetic mutations and a treatment protocol to aid with symptoms.  Interestingly I've added a lot of the supplements already and those are the ones I've noticed have done me the most good.  I'm only missing five off his entire list.

Part 1

Part 2

Part 3

Part 4

Sorry, I tried to embed the vids but it didn't work for some weird reason.  If the links don't work just search for Dr. Neil Rawlins on the YouTube page and they will pop up.

Monday, March 17, 2014

ME and My Genes

I've been putting off writing this post for a myriad of reasons but mostly because it is seriously complicated and I haven't sorted all of it out yet.  Also I'm in the middle of my winter crash so no energy to think about it much and not enough brain power to write about it coherently.  As a result this might turn out a bit rambly.

At the end of last year, I sent my spit off to 23andMe to have a very small subset of my genes decoded.  I got the results back in January.  However, before I get to the interesting bits I'm going to write about genetics in general because, in this case, context is VERY VERY important.

Right now decoding our genes is in its infancy so interpretation is still quite shaky and often wrong.  While it sent me into geek heaven to have it done, I also have a fairly good understanding that the results are probabilistic and NOT deterministic.  What does that mean?  Genes are a set of instructions on how to build a cell.  Each time a cell is built it only uses a subset of those instructions.  We have yet to fully understand why some instructions are used and others ignored.  This is the new field of epigenetics and the basic idea is that specific genes are expressed (turned on and off) after environmental exposures such as food, toxins, exercise, etc.  So even when they say that you have a mutation at such and such a location, while you do indeed have the mutation, you may or may not get the illness/trait associated with it.  So in reality it is a bit of a crap shoot whether these predictions will come true or not.  The short version is that our genes/cells are influenced strongly by our environment, such as food, toxins, exercise, etc.  Whether a particular gene actually gets expressed (flipped on/replicated), can only be predicted as a percentage not an actuality. That said, some mutations are more readily predicted than others so genetics tests are ranked by probability.  For a more in depth view I suggest watching PBS' Cracking Your Genetic Code which is available on their website and on Netflix.

So, be warned, if you decide to go this route: 1) once the answers are seen they can not be unseen (i.e. do you really want to know the probability of getting breast cancer or Alzheimer's?) and 2) it is only a prediction and not a concrete reality.

On the flip side if the genetic markers are there and you are having symptoms that line up with those markers you might be able to adjust your treatments so that you end up improving.

Okay, now the juicy details....

Since the FDA has gone after 23andMe, they have stopped producing the medical reports but they will still supply you with the raw genetic data.  This is what I got.  I downloaded my raw data and then paid Promethease $5 to translate it for me.  The interface is extremely wonky and you have to watch the tutorial vids to make any sense of it at all.  There are more expensive interpretation services out there but I haven't tried them yet.  I'm guessing that the interfaces are a tad better.  Anyway....

The answers come ranked by probability.  The most likely being first which is normally your gender (this gets into an entirely different long discussion about intersex, transgender, etc).  Promethease ranks them by an arbitrary probability number.  I'm not entirely sure what they use to generate this number but basically I chose to only pay attention to those of rank of 3 or higher.  My gender was rank 3.9.

Their database is incredibly detailed and interlinked so you can sort by disease, rank, probability, number of papers published regarding that particular mutation,  and many others.  I decided to look at rank 3 or higher but also with three or more published papers associated with that mutation.  Several interesting things popped out:

  1. I have two mutations in MTHFR
  2. Due to one or more mutations I have an inactive CYP2C9 gene
  3. I'm of northern European decent.  
Now the MTHFR is what is causing the methylation cycle problems.  Since I have both the symptoms and a high probability of MTHFR issues it stands to reason that this one is true and active in my system.  I still have lots to read about MTHFR since there are entire websites devoted to the defect and what to do about it.  More than likely this will be the bulk of my research for the coming year.  Right now I am using methyl B12 and methyl folate and staying away from folic acid.  These supplements will replace what my body can not produce due to the mutations.

Another issue with MTHFR, is that I have to get my homocysteine levels checked regularly.  Right now mine are normal.  

The CYP2C9 causes a liver problem.  This is another one I have to research more fully but as of right now I know that a lot of the newer drugs assume that you have a working CYP2C9 so that they can be metabolized.  Since mine is shut off I can't metabolize these drugs and they build up in my system and cause side effects.  In particular I can't take Warfarin, Plavix, Tamoxifen and most of the NSAIDs.  Basically I need to assemble a list of drugs I shouldn't take.

I'm not completely sure but it also might cause problems with general detoxification but I have to look in to that for verification.  (It is one of those muddy memories that I can't find the citation for to back it up.)

Of course I had a handful of other results but they had a lower risk to them and I haven't done enough research to figure out if they are significant or not.  Just for your curiosity, I'm at increased risk for type 2 diabetes, melanoma, celiac, breast cancer and coronary artery disease.  These are the ones I'm not worrying about since I don't think there is enough statistical evidence to back up the probability that I'll actually contract these illnesses.  The other two, MTHFR and CYP2C9, I believe are in full swing and require my immediate attention.

Interestingly, my CFS treating doc backed me up on this and has referred me to a geneticist.  I haven't made an appointment yet.  I've been sick on sick on sick lately and need to wait until I feel better to make the trip into Boston to see the guy.

I was hoping for a more thorough ancestry but I have a 40-60% chance of being of northern European decent which is the area of Germany, Poland, Norway, etc.  I find this very interesting.  I know  that I'm English for at least five generations.  Maybe I'm from Viking stock.  Curiouser and curiouser....

Saturday, February 15, 2014

Well That Sucked

This was hands down the WORST Valentine's Day EVER!

I used all my spoons cooking a dinner from scratch and made a special flourless chocolate cake from scratch.  This is the first cake I've made in 2-3 years and the first one I've made by myself since getting sick.  I was really proud of my accomplishment.  It was proof of how much I have improved over the last year.  Instead of a celebration hubs decides to throw one of his "you're sick and I can't take it anymore" hissy fits.

Prior to this non-celebration he left me an awful card.  A dog with its tongue hanging out with words to the effect that I make him drool.  Really classy!  No flowers.  No chocolate.  No present.

I sent him out to the supermarket to get my kid a carnation and some chocolate so he wouldn't be left out (he recently broke up with his own girlfriend).  Hubs comes back with a bunch of daisies and tells me to give one to the kid and keep the rest for myself.  Awe.  How thoughtful of him.  (can you hear the sarcasm in my words???)

So we sit down to dinner.  I'm pretty cooked by this point.  Like I said I had used all of my spoons making this special meal.  I gave hubs his box of chocolate and dished up his dinner.  He went over to the stereo that he recently fixed and turned the bass on really loud.  Now my poor brain can't handle this.  Bass in particular really bothers it.  Sometimes I get so bad that I can't listen to any music but prior to that point I have trouble with pounding bass.  It feels like someone is rattling my brain around in my head.  I asked him if he could turn it off.  Politely mind you.  And he lost it.  "I hate how plain vanilla our marriage has gotten."  In that nasty whiny voice that to me carries so much more meaning than the words.

Of course by this point I have no energy.  I can't think.  I can only react.  Tears just start streaming down my face.  All I can think about is that dinner is ruined.  The evening is ruined.  He doesn't see a celebration.  He doesn't want to be with me.  He doesn't want to celebrate with me.  He hates our marriage.  Probably an over reaction but hey with no spoons left that is how I roll.

I get up.  Leave my dinner behind.  Lock myself in the bedroom and lie down for an hour.  I hear him eating.  I hear kid come home and eat.  I can hear them talking.  Kid goes up to his room and I can hear him walking back and forth over the floor doing god knows what.  I want to watch figure skating on the Olympics so I get up and make my way back out to the living room.  I'm in full head bobbing mode by now so conversation is impossible.

Hubs says stuff to me while I'm reheating my dinner.  I have no memory of what he said.  He got huffy and said "Hey I'm apologizing here." I said "I know." And walked off with my dinner.  I have absolutely no clue what he said to me.  I just knew I couldn't think straight or hold a conversation.  I just wanted to eat and watch TV.  He hasn't talked to me since and went to bed without letting me know.  Normally I tuck him in.  Like I said worst Valentine's Day I've ever ever had.  I'm still having crying jags over it.

While I was in the bedroom, I had a good long think.  Eight hours later I'm still thinking.  I can't decide what to do.  This sucks.  My situation sucks.  Do I dissolve the marriage?  Do I fight to keep it going?  Right now I see very little benefit from staying in it other than having someone to do the dishes occasionally.  He mows the lawn and shovels the driveway but that can be fixed by moving to a condo.  I would still have to do the dishes and laundry though.  What makes it difficult is that other than having no emotional support at all and no support regarding my illness is that things are basically tolerable.  He is civil most times and even pleasant once in a while.  He doesn't call me names or hurt me physically.  As long as I make food and put it in front of him things just keep sailing along like nothing is wrong.  We just don't talk.  If we go out to dinner by ourselves or out anywhere, he is on his phone.  He talks more to his guy friends than me.  If he isn't talking he is texting.  It makes conversation with him very very difficult and often just breaks the flow to the point where I give up trying.  I just don't know.  I don't know if I want to go through the stress of breaking up.  Also I still kinda like him.  His behavior just sucks right now.  If I didn't have a 20 year history of a good marriage behind me, I would leave but the fact of the matter is that we've been together for 25 years.  That is a long time and most of it was very good.  What the hell has happened???  I don't have the know how to fix it.  I'm not sure how it is broken in the first place.  I just know that I don't like the way things are going and they need to change.

Saturday, February 8, 2014

Sick Humor: Husband Edition

If my husband could push the bed out into the kitchen I'm sure this would be happening in my house:

Friday, February 7, 2014

The Gut and the Immune System

I know I've been absent for a while.  Shortly after kitty passed away I got to spend some quality time in the local hospital (I'll talk about that in another post) and then adopted two new kittens which have been running me ragged.  On top of all of this I'm in the middle of my normal winter crash and have little to no energy.  So here is a cool vid that won an award.  It explains how the gut and the immune system interact.  I'm going to have to watch it several times over since it isn't sinking in right now but I love the graphics and I recognize a lot of the tags from various CFS papers/articles.

Monday, January 20, 2014

Baby Girl

Baby Girl is one of the many pet names I had for my cat, Samantha or Sam for short.  I adopted her and her sister, Brillo, in 2001 as kittens so she would have been 13 sometime this year.  Since she and her sister were rescues, we were never sure of their exact age.

They were both great cats.  We lost Brillo to a tumor in 2011.  It detached from her liver and she was bleeding out internally.  I came down with CFS/ME in 2010 and 2011 was one of my worst years with the illness so I couldn't go the hospital with her after she flopped at my feet in obvious distress.  My son held her as she was put to sleep by the hospital staff.

Two weeks ago we lost Sam to colon cancer.  I knew she wasn't doing well this past year.  She had stopped climbing on the couch and I had to put a footstool next to her favorite chair to make it easier for her to climb onto it.  Sam has been my constant companion throughout my illness.  When I first got sick she would lie at my feet all day, keeping me warm and keeping me company.  If I laid in bed too long she would come a yell at me to get up or if I was doing badly she would check up on me before lying down near me to keep me company.

When my son moved out to go to college, she and I were the only two in the house during work hours and we became almost inseparable.  She would follow me from room to room, settling down whenever I sat down.  I have a kitty hammock that I put next to the couch so no matter what room I was in she was near me, either next to me on the couch, in her own chair, in her kitty hammock or on the bedroom floor near my bed.   She would wait for me outside the bathroom door and say hello to me upon my return from adventures in the great wide world.  She demanded to be cuddled for about an hour each day and would lead me around the house to the spot of her choosing.  In our own way, we had figured out how to communicate with each other.  She could let me know if she wanted petting, wanted dry food, wanted table scraps, wanted a clean box, etc.  I only wish she could have told me that she wasn't feeling well.  I had put it down to old age and her bum leg from an injury she sustained as a young cat. I've never had a cat this old before and didn't know her behavior was abnormal.

By the time she started throwing up after trying to go to the bathroom it was too late.  There was a huge mass in her colon and she could no longer go potty.  I had to make the horrible decision to put her to sleep.  I feel like I let her down.  That I didn't care of her after she spent the last four years taking such good care of me.  I am so very sorry for not catching this earlier.  I feel that I should have known.  That I should have seen it.  That I should have taken her to the vet earlier.  But I was so wrapped up in my own illness I kept putting it off.  She hated the vet so much it was a huge ordeal to get her into the carrier and over there that we hadn't even taken her for her annual checkup for a couple of years.  I really do feel responsible for her getting sick and then having to put her to sleep.

I still cry every day for her and it has been three weeks since she got sick and two weeks since I put her to sleep.  I know it was the best thing for her but I miss her so very much and feel very very guilty.