Heavy heart

I've been up since 5am.  I just got off work at 11pm and have to return at 7am.  I know I should be going to bed right now but all I want to do is write after the last few hours.

I've had a happy post brewing in my head for the last few days, all about compression socks, good runs, and new bikes.  Now, tonight?  I'm only thinking that whoever had the idea to put salted caramel and chocolate-covered potato chip pieces into ice cream was a genius.  Or Satan.  Maybe both.

I learned tonight that yet another family member - to be honest, I'm not even sure whether to call him a distant cousin or an uncle - succumbed to ataxia.  Machado-Joseph ataxia, or SCA3 (spinocerebellar ataxia, type 3), the disease which took my grandfather and is in the process of taking my father, his brothers, and likely my brother someday.  I wasn't close to Dean.  I didn't really know him.  But reality strikes close to home tonight - I am reminded of this terrible thing that haunts my family.

While it is possible that I have this disease, often misdiagnosed as muscular sclerosis, it is highly unlikely.  The gene is rarely passed to women, and if it is, it strikes them young and hard - meaning that I most likely would have died in my 20s.  Not only that, I can stand on one leg in tree pose or dancer pose for minutes at a time; my coordination, and therefore my cerebellum, are doing just fine.

Better yet, in a certain way of thought, one cannot be a "carrier" of this gene.  If you possess the gene, you have the disease; it's not a "hidden" thing, like cystic fibrosis. The timing and severity of the disease are dependent on the number of CAG repeats in the DNA on any number of specific chromosomes, and as of my last reading of the research, there were 26 strains identified.  If you were to reproduce before your symptoms presented, that would be one thing - but there is no recessive trait involved.

Anyway, all this is not to bore you with the biology of it, but rather to say that I don't live in fear that I myself will come down with SCA3 ataxia.  Because the possibility exists, however, my ex-husband and I discussed genetic testing, which was offered to my family at no cost by the University of Minnesota at the time of my dad's diagnosis.  I - we - decided against it.  We decided that there are any number of diseases in the realm of human existence for which there is no cure, which are terrible to live with, and which end up being fatal.  Life itself is fatal, if you think about it.  Having a child is always taking a chance, and it was a chance we were willing to take.

And yet, tonight, I can't stop thinking that I'd like to make the appointment tomorrow.  And if I have it, to have a tubal ligation the very next day.  I would do anything, tonight, to ensure that this thing is not passed on to one more person.  Not a single additional man, and not one more occasional woman, in my family.  I would give up the one thing I want the most for this.

The one thing I wish I had tonight was someone to come home to and share my heart with over this, so that I didn't have to sit up, typing my heart into cyberspace.  I'm even missing my ex-husband and the conversation we had eight years ago.

Even a stupid cat would suffice.