November 2008 I celebrated my 60th birthday, which is an exciting milestone.  In my family, and for me personally, it has meant dealing with a dominant inherited neurodegenerative disorder called SPINOCEREBELLAR ATAXIA. Very few people have heard of this condition, but in our family history we have two generations on my father’s side that began exhibiting symptoms in their early 60’s. My grandmother was misdiagnosed as having ‘late onset’ Multiple Sclerosis.   She lived for more than 20 years with the condition. My memory of her was that she had trouble walking and talking and that Grandpa always took good care of her.  It wasn’t until my father and his sister began to experience the same symptoms in their 60’s that the reality of this being a hereditary disorder came to light.

My father and aunt did their due diligence to identify what this disorder really was.  It was in Dad’s late 60’s (around 1988) that he was diagnosed by a Neurologist in Austin, TX with SPINOCEREBELLAR ATAXIA. The term Ataxia means ‘incoordination’.  Nerve cells in the cerebellum (part of the brain) begin to misfire. Cells in the spinal cord and cerebellum can be affected. Dad contacted family members from his Mother’s family, but could find no one else in her family that had the disorder. There is no pain from this form of Ataxia, but coordination, speech and balance slowly deteriorated over the years.  My father and his sister both lived into their mid-eighties with the disorder. 

My brother and I, and our two cousins were told we each had a 50% chance to inherit the genetic disorder.   We were all in our 40’s at the time and busy with careers and families, and never seriously discussed the reality of doing any genetic testing.   Of course, ‘ignorance is bliss.’  We all hoped we wouldn’t have that faulty gene in our body

For the past five years my brother and I have been noticing mild symptoms of in- coordination.  My life has always been full of physical activities—hiking, biking, running, aerobics, and tennis.   I began having trouble with eye-hand coordination, and judging the tennis ball as it came toward me. I was sure this was an issue with my stigmatism or my eyes playing tricks.  Then I began feeling unsure coming down stairs and street curbs.  My depth perception was changing.

It has now become a reality that 3 of the 4 offspring in our generation do have Ataxia. The type of Ataxia that we have is called SCA6 (Spinocerebellar Ataxia 6).  The number has to do with the order in which the gene was identified for the specific Ataxia disorder.

How has the focus of our lives changed??   With the very real concern that this dominant hereditary condition could be passed on to our children and their children, it is now time to act.  Jeff and I have committed to do all we can to help with research to bring us closer to finding a cure.

For me, I want to be an advocate for those of us living with Ataxia. Raising awareness, research funds and especially raising hope for a better life is my goal.

I invite you to read MY JOURNEY on this website.