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....

The Egg or The Chicken

Had a long talk with my shrink today.  At our last meeting he suggested that I go on meds to "even out your mood swings."

I told him about my abysmal record with anti-depressants.  The only one I've done well on is Prozac and that was over 20 years ago.  I've tried many of the new ones.  I had side effects to most other SSRI class drugs and that was BEFORE CFS.  I had a severe reaction to SNRI class drugs that were proscribed in low dose for pain use after I contracted CFS so those are totally out of the question.

Of course I was told by Dr. Komaroff that anything that acts on the central nervous system wreaks havoc with CFS patients so I'm loath to even try the Prozac.  I would have to start out on the lowest dose they make and maybe even mix it into juice and only drink half.  I would also have to be monitored closely for side effects of any sort.

Aside from the drugs themselves, we also talked about why I would be taking them.  I told him that it made me feel like my sadness, my grief wasn't legitimate.  That it wasn't right to feel this way.  That it needed to be wiped out by the drugs.  He gave me an excellent list of things to consider:

Is the sadness overwhelming?
Does it interfere with everyday life?
Is it persistent?
Can I tolerate the sadness?

My sadness comes and goes.  It isn't persistent.  I cry more often in his office than outside so his perception is a bit skewed.  I generally have triggers for the sadness such as watching the Olympics (people doing things I used to do such as swimming or running)  or digging my ice skates out of the closet.  I cry.  I get most of it out of my system.  I go on with life.  I get annoyed that I'm still sick.  I get angry at not being able to do stuff.  I grieve for the life I've lost.  But most of my days I'm okay.  Most days I can function within the boundaries of CFS.

I also realized that I can't really untangle the CFS from the sadness. I don't know if I wake up feeling crappy because of the CFS or because I'm sad at being sick.  The proverbial chicken and egg problem.

I know what would absolutely improve my mood: BEING ABLE TO DO STUFF!!  If i could get a drug that cured CFS I wouldn't have to take any prozac!

Couple's Therapy

It has been a while.  I've been sicker than usual.  More tired and very very dizzy.  But I do have some good news.  Hubby has made some monumental decisions:  he has decided that he doesn't want to be Angry Man and he has decided that it would be wrong to leave me.  I guess he figured out that he loves me.  It is the situation that he hates.  In his words, "my parents raised me better than that."

So, things have been going better around here.  There is less yelling and fewer broken kitchen items.  He does still loose it once in a while but mostly it has been pleasant again.  This has all coincided with his starting a new job.  It turns out he is enjoying himself; he is working with nice guys; and it is a slower pace than he is used to.  Between these and the financial relief the income will bring things have been quite nice here.

We are going to couple's therapy.  We have only made it to two sessions so far.  We agreed to check in with each other once a day so he doesn't have any nasty surprises.  I tend not to talk about being sick with anyone.  No one wants to hear the laundry list of weird symptoms I experience on a daily basis.  Occasionally I do unload on my poor Mom and I'm forever grateful to her for that.  But my not talking about it has lead to some unpleasant surprises for my poor hubby.  For instance, I figured out that my afternoon mood swing is probably blood sugar related.  Sometimes I have a deadly combination of a CFS crash and a blood sugar crash coinciding around 5pm.  This makes me cranky and very very short tempered.  This is when I tend to yell and throw things.  He had noticed the mood swings but never noticed that they always occurred around 5pm or that they were probably food related.  So now I try to eat something protein like at 3pm and he calls me around the same time to check up on me.  That way he doesn't walk into cranky wife from CFS hell when he gets home.  He had no idea this was illness related.  So we have made some progress thanks to the couple's therapist.  I like the guy a lot.  I wish we could go more often.  Maybe once we settle into the new work routine we'll make it over there more often.

Now if only my CFS symptoms would ease up I would be a happy woman.

Is That Light I See at the End of the Tunnel??

I'm starting to feel better.  Of course now I've probably jinxed it.  But I think it is a confluence of events.  I've been on a tiny dose of Trazadone for about a month now to help induce stage 4 sleep.  I now can sleep for at least six hours straight without waking and often manage an entire eight.  This is a novelty for me.  I was waking a lot even before I got sick.  Since about January between poor sleep and pain I wasn't doing well in the sleep department and I was miserable.

Several weeks ago I got a shot of Lidocane in my right shoulder.  While it did put me in bed for three days straight once the herx wore off a great side effect set in.  Not only did it kill the pain in my shoulder but it also stopped the pain in my entire body.  Nothing hurt.  All the joint and muscle pain disappeared.  Four weeks later it is slowly creeping back in but I've had a relatively pain free month.  I also bought a squishy foam pad for my bed for $20 at an outlet store.  It has been bliss sleeping this month.

My new holistic doc put me on tons of supplements.  I'm debating whether to list them or not since they were based in part on my bloodwork and saliva tests.  I also haven't researched them yet so I have no idea why I'm taking them.  Talk about blind trust in the doc.  However, I'm doing better.  Since I started this regimen two weeks after the shot in the arm and sleep meds I think I'm seeing an improvement that are a direct result of the supplements I'm on.  For someone who hates taking pills I can't believe I'm taking them by the fist full now.

I also got a break from hubby.  While he was gone I got to go out and play with my Mom and Sister.  I hadn't realized how depressed I had become.  It had creeped up on me and I was in denial.  It was an eye opener how happy I was when they were here.  So now I've arranged for even more counseling.  Hubby and I will have our first session in three weeks.  This illness has been ridiculously hard on both of us and we need some help coping.  It took a lot of nerve on my part to make the call today.  I was in tears on the phone to the shrink.  However, now I'm kind of happy about it.  We're going to get some help.  Things will get better.  Life is good.

Craft Therapy

A great post regarding arts and crafts as therapy:
http://iheartartpdx.com/2010/08/23/the-healing-arts-and-crafts/