The Irony of Serendipity

I originally wrote the post below two months ago, 
- but hesitated before posting until now...

If you won the lottery, how would you feel?,.. and what would you do with the new  wealth bestowed upon you?

What type of “wealth” is the most valuable, – financial resources  or health?

“I have a never ending fantasy that one day I’ll get some new diagnosis, – and it will be something for which there is a cure, and that I will be well enough to work as a Scientist again… (…I also have “winning the lottery” and getting all my relatives genotyped by 23andme fantasies … not sure which is more likely to happen…”

…Three months ago I “won” the health lottery…. 

Over the last 12-15 years I have been afflicted with health issues which have impacted negatively on my capacity for work.  As outlined on one of my webpages, one of the reasons why I tested at 23andMe was to determine whether my genetic code would help shed some light on my health issues.

My genetic sequencing did not find anything definitive, but it did show some interesting results.  For instance I found that my MTHFR methylenetetrahydrofolate reductase enzyme is only 30% effective (thus in theory, I probably need more folate than “normal”).  As well as that, I have another mutation which somehow results in lower levels of vitamin B6.

As outlined on the webpage,.. one diagnosis I had received was “Fibromyalgia”, a condition/syndrome that has not been without its controversies, – the main one being that since the diagnosis of Fibromyalgia is based solely on subjective criteria (ie. based on patient reporting of symptoms, rather than objective clinical observations/tests) there was not universal acceptance of it being a “real” medical condition.  To some (both in the medical field and outside the medical field) it was regarded as a synonym for “psychosomatic” or “depression”or “hypochondriac” or “malingerer”, or even just plain lazy.  Some medical “experts” even went as far as implying or stating that Fibromyalgia is just psychosomatic,  – and if the” imaginary illness” is “falsely” validated by giving it a label/name/diagnosis, then the “imaginary illness” becomes self perpetuating due to the “patient” locking themselves in a “I am ill, and I can’t do anything about it” mentality,..( and  if they sorted out what ever mental issue was causing their mind to invent the “imaginary illness” they would get well again).   It was attitudes like this that made me desperate to find any kind of alternate diagnosis,.. something for which there would be irrefutable objective medical evidence.  In a way, I had desperately hoped that Fibromyalgia really was just psychosomatic,.. if it was,.. then I could do something to cure myself.  I thought that, – if I convinced myself that I was well,.. then I would be. I hoped that, – if tried as hard as I could, to resolve whatever issues I might have,.. I could cure myself.. Alas, that didn’t work.  All that did was result in crushing disappointment when I failed to cope with working full time, failed to complete teacher training, and worst of all, failed to work part-time as a  shop assistant…..  On the other hand, in the quest to sort out any issues I might have,.. I’ve become wiser, more self aware, and probably a far better person inside than I would have remained had I never been ill.  I’ve gone from a person who was “wounded and broken inside”, to one who is “more whole” than they ever have been in their life before.

In my first post, I mentioned that the post-earthquake(s) difficulties I experienced over the last 18 months, finally prompted me to get an official ADHD diagnosis.  My aim was to have medication to help me become less distractable (and thus less prone to procrastination),.. and thus be more efficient during the limited time that my son is at preschool, and ultimately get much more done.  The medication has done far far more than help increase my focus, and reduce my distractability – it has totally eliminated my fatigue.

I am profoundly shocked by how much better and more clear headed I feel on ADHD meds.  Everyone ( myself  included), significantly underestimated how cognitively impaired I was.   Though,.. to be fair it’s not just the ADHD meds (which are Dopamine re-uptake inhibitors), I am also taking vitamin/amino acid supplements (some of which are  biochemical building blocks for Dopamine production, eg. L-Tyrosine).

It therefore seems that my most debilitating health issue was effectively the result of what can be best described as a “Dopamine deficiency”. I had originally planned to relaunch the J2 project over the last month, but rather ironically, I got far too distracted by the positive effects of the ADHD meds.  Ironic because i wanted the ADHD meds so i’d be less distractable, and more focussed and get work done more efficiently.

Most of this distraction has been in the  overwhelmingly positive shock of realising that I now have an increased amount of options for my future career(s), – my main limitation – fatigue- no longer exists.  I had envisioned that I would work part-time as a statistician, and divide my remaining time between diverse things as being a photographer, an indie yarn dyer, and a genetic genealogist.  My health issues meant that I had limited “brain time” each day, and required me to do a diversity of things since I am prone to “repetitive strain injuries”.  Now that my “brain time”  is no longer limited, and I now have “normal” energy levels I am left reassessing what I want to do.  Do I want to return to working as a scientist full time?, and if so, doing what exactly.  Working as an Ecologist is still completely out of the question for me, – although I may no longer be afflicted with fatigue, I still do have chronic hip and knee problems.  The last thing you want when you are halfway up a mountain is to have your knee or hip give out.

A whole world of possibilities has opened up to be again, and I am still in a state of disbelief, and overwhelmed by it all.  The one thing i am completely sure of is – whatever I do,.. genetics will be involved, and data analysis will be involved.

Another reason that I have been distracted is that I’ve consequently become curious to discover whether I have some kind of a genetic susceptibility for “Dopamine deficiency”.   Is there a critical mutation in one of my dopamine receptor genes, or is there a mutation in an enzyme used in some part of the Dopamine synthesis production?,.. I also have had questions like – Can all my symptoms be explained by ADHD?, – I’m not sure that they do.   A salient fact has occurred to me over the last couple of weeks  –  many of those symptoms of the less hyperactive ADHD subtype (most common in girls)  overlap with those seen in Dyspraxia (aka. “clumsy child syndrome”).  Dyspraxia and ADHD often occur together, and it is absolutely certain that I had/have Dyspraxia. How much genetic overlap is there between ADHD and Dyspraxia? “.  In addition I have now discovered that there is now new evidence that there is impaired dopamine functioning in people with Fibromyalgia.  Yes, Fibromyalgia,.. the diagnosis that I was so very desperate to shake.  Ironic much?

It has become quite apparent that several B vitamins are used as co-factors in the body’s biochemical synthesis of Dopamine, including vitamin B6 (as a direct enzyme co-factor) and also Folate (as part of the biochemical recycling of the co-factor BH4 (Tetrahydrobiopterin).  As mentioned above, I have a mutation that results in reduced efficiency of the MTFR enzyme (which produces the form of folate that is used in biochemical recycling of BH4).  I also have a mutation (Rs4654748=CC) which is correlated with lower than normal vitamin B6.

Of course,.. when after a couple of weeks of feeling better, you start to doubt that your health was ever as bad as it really was,.. you start to think that the improvement can’t really have been so dramatic,.. that you’ve been deluding yourself.  Then,.. when you skip the meds for a day and re-experience the crippling fatigue, you realise that yes, I readly do feel significantly better on ADHD medication..  The fatigue is not “tiredness” per se., but more accurately described as cognitive impairment.  I’ve been struggling to describe what the cognitive impairment was like – it is like your thoughts have been caught in quicksand

….  Like a nightmare in which you are trying to run from danger, and the faster  you try to run, the slower you manage to move… and to everyone around you, you look perfectly normal.   The onlookers in your nightmare can not see any reason why you can’t move at normal speed, and accordingly think that you are fully capable of making the effort to run at full speed, so thus it is assumed that your failure to run fast enough is merely due to being lazy, a hypochondriac, a malingerer,.. the onlookers believe that the unseen force holding you back, …. slowing you down…, is just in your mind… after a while you start to believe them, and when you once again stumble, and fail to run fast enough -despite full effort given – you are again filled with crippling self doubt,… and then when all hope seems lost,.. miraculously you can finally run,.. and run faster than you ever imagined.

How would an Olympic runner feel if gravity doubled,.. trebled,.. or more*? would they be able to function the same? would they eventually get used to the crippling gravity slowing them down,.. and then after years of being used to it day after day, would they remember what normal gravity was like?.. and then how would they feel if they were then finally, suddenly returned to normal gravity?  Would they even find that, – over the years adapting to the high gravity environment,.. they were now better than they originally were, and in fact better than they would have been, if they had stayed in normal conditions over time?

Imagine if you may,.. you have a computer.  Over time, new programs are added, including one that has very high system resource requirements (Lets call it “little boy 3.66”) and after a while the system has been clogged with redundant and  fragmented files.  If too many demands are made on the system, – it freezes up and crashes.  That’s what it was like, – My thoughts would effectively “freeze/crash” if there were too many cognitive demands.  Now imagine how the computer would be, if its system was refreshed, – the redundant and fragmented files were fixed, and the computer received an updated CPU and greatly increased RAM.  Would it still crash if the same day to day demands were made?, – no it wouldn’t,.. it would instead perform its functions effortlessly.

I have now reined in my strong curiosity in examining the various genes that could have an impact on Dopaminergic functioning, and will now redirect my attention back to Y-DNA haplogroup J2 research, ( as well asY-DNA STR mutation rates, autosomal DNA inheritance, and, of course, the statistics paper I am taking).  I will now start to prepare my first STR marker/Statistics related blog post.  These posts will string together a thread of information, which will explore one of the original aims of the haplogroup J2 project – Can STR’s accurately predict haplogroup clades/subclades?  Originally, I was going to prepare a post explaining the rationale for a hypothetical expanded STR mutation rate research project.  I will still write that post, – but explaining my rationale will be easier, and more understandable after I’ve written the first couple of instalments of my series of STR marker/statistics blog posts.   It’s probably important for me to repeat again, – that these blog posts will be intending to make what I’m doing with markers values easy to understand, – so that everyone can understand what’s being done, and why,.. and what the results mean, and why it’s important. 

* Let’s just pretend they were abducted by aliens and taken to a high gravity planet, ….. or something like that….  Ridiculously far fetched?,.. well perhaps yes, ….but far less far fetched than the alternative (ie. earths gravity magically increasing…)


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