Guest blogger Mama T

My mom and I might look a lot a like, but we're very different personalities.  Some of that is probably due to JPT's genetic influence and some to our different life experiences.  She wasn't as lucky as me to have a mom like her!  Friedreich's ataxia has always been a part of my family life.  But not for Mama T.  Her understanding of FA has changed a lot since she first met JPT.  

Wine tasting with Mama T, 2010

I met JPT in the fall of 1966 at Stanford University.  I was a freshman, just beginning my studies; he was a first-year grad student in physics.   As we were getting acquainted, he told me about himself and his family: grew up in Massachusetts, went to Princeton, was the oldest of four children.  He told me that his youngest sibling, Patti, was in high school and had a disease called Friedreich’s ataxia, a disease of the nervous system.  Other things I learned at that time: 1) that FA was named for someone in Austria who had the disease, 2) that FA was caused by a genetic mutation and so it was an accident without relevance for other family members, and 3) that Patti was unlikely to live to be as old as he was (then 22).

We were just getting acquainted at that time, not really establishing each other’s pedigrees.  All three pieces of information that I was given in 1966 turned out to be wrong, but JPT could only rely on the very limited understanding of FA that had been gained since it was described by, and named for, physician (not patient) Nikolaus Friedreich in the mid-19th century.  As noted in earlier entries in this blog, FA is actually caused by an inherited genetic defect.  And Patti Timbie lived to be 37 - well past 22.

Young love, 1968

The next milestone for me was March 1968 when I met Patti, who came to California with her parents for the wedding of JPT’s brother, RET.  We picked them up at the San Francisco airport and drove to Yosemite, the site of the wedding.  So there were 5 of us (plus a large vacuum cleaner that occupied one seat) riding together for hours.  I got to know her a bit: her strong opinions, her frustration with her disability.  She was a bridesmaid in the wedding, walking down the aisle with the help of her brother CNT, who was then 19.

Skating on the duck pond in Hamilton, 1979

JPT and I married in 1969, moved to DC in 1971, and saw Patti more often.  Looking back, I wish that we had visited more, either with her parents in Hamilton, MA or later in Boston at the Center for Independent Living (where she lived from the late 70’s on).  A typical visit with Patti in Boston might go like this: we go to her apartment on the Fenway and just “hang out” with her and perhaps some of her friends and health care aides in the apartment.  We might share a meal right there.  She could compose a message on a computer screen by selecting from a large-font display.  We could communicate back and forth with this device, after a fashion, even though her eyesight and speech were getting worse.  But saying good-bye at the end of the visit was always hard.  Patti might be in tears, saying good-bye, and then I would be, too.

CMT can't quite sit up yet, 1985

Yet in other ways FA was still remote for me.  Even though I knew an FA patient, I didn’t think it was a threat to my own family - JPT and I, plus AT and CMT, born in the 80’s.  My understanding had not changed much from 1966 to 1986.  But within the next ten years there would be a lot of progress, in diagnosis if not in treatment.  If JPT and I were meeting now as young people, he would know that he carries the gene for FA.  And I could have genetic testing also.