Pre-Skeeter: Thanks, Mom

Ada 1918–1996

Mother's Day started me thinking about how this began (to my knowledge).  I have Spinocerebellar Ataxia, Type 6 (SCA-6).  There are many types that vary in onset, cognitive involvement, and other things that are of no interest to most people.  I now know that I got the autosomal dominant gene from my mother, who unwittingly passed it along to me.  Looking back, I recognize the ataxic signs began in her mid 60's--the gait, the speech, etc.  After my initial diagnosis in 1997, I was angry with her for doing this to me (I didn't care that she never knew).  "Come on, Ada."  I thought I had just inherited her boobs, skinny legs, and smart mouth.  
But she wasn't much of an information-seeker, and consequently, didn't realize she had Ataxia.  Ada just thought... (actually, I have no idea what she thought). Although she and I were close, Mom went to great lengths to deny her SCA ataxic signs.  She knew something was wrong, but backed away from putting clues together.  Her family decided that her behavior was because she had never taken care of her health, drank too much, watched too much TV, stayed on her chaise lounge 24-7, and wanted to be catered to. My usually "snappy" mother took all of our judgements in silence.  That should have tipped me off to a problem right there.  As her only child, one of my saddest thoughts is that she was alone in this.  Mom's self image was just too important to her and that trumped everything else.  She said nothing, we said nothing.  Ada died of pancreatic cancer before she progressed neurologically (she would have considered that the good news).

Children are a recurring theme and a big issue in Ataxia circles, since descendants have a 50–50 chance of carrying the gene.  I think Mom became symptomatic in her 60s, me in my late 40s. The other shoe dropped when our daughter, Heidi, became symptomatic with her second pregnancy in her early 30s.  Earlier onset with each generation is officially called anticipation. Our son, at 39, is asymptomatic. Our children and their spouses had their own families after my diagnosis, knowing the risk. My biological children, in-law children, and four grandchildren are supportive, aware that I may represent what they have to face in some way. Granted, I'm not the grandmother I want to be, but I can still hold the grandchildren on my lap, play on the floor, read books (sort of), give rides on Skeeter, my trike, the grocery cart, etc. 

It's not rational to feel guilty (besides that, guilt is my least favorite emotion), but our children are so bright and beautiful, that I wanted anything that came from me to be perfect. It didn't happen that way.  We all pass on characteristics to future generations through our genes.  But, most of the time, it's blue eyes, a certain body type, or a predisposition for heart disease, etc.  This felt more like a life sentence from a lottery.

So, do you test descendants for a disorder that has no cure, no treatment, and a 50% occurrence rate?  The short answer is probably not, unless you want the information for planning or you just want to know.  Most genetic researchers advise against testing asymptomatic children.  First of all, minors are too young to give informed consent. Secondly, genetic testing is extremely expensive (a full genetic panel could exceed $5000.00) and is rarely covered by insurance in the U.S. Most importantly, children are better served by being encouraged to follow their physical interests and live their lives.  If the SCA-6 should manifest at some point, and they seek out information (family, physicians, support groups, websites), they'll figure out the particulars on their own.  

The lesson:  Nothing to be gained by anticipation (pardon the pun).