Guest blogger JPT

He probably needs no introduction since most of the blog readership knows JPT.  I would like to mention that my dad is one of the most generous people I know.  Guess who was the first to donate to this fundraiser?  He has always set the example of giving time and money to the things he believes are important.  I've been a lucky recipient of his generosity my entire life, and now I hope to pay a little something forward in 2011.

JPT at the wheel

As someone who knew Patti for her entire life, JPT can offer a lot more insight her experience with FA than I can.

Patti and her lop-eared rabbit

My sister Patti was born in 1952.  I was 8 years old.  I was the oldest; she was the youngest.  For the first few years she seemed to have no problem.  After a few years, slight issues with balance and gait began to emerge, almost imperceptible at first, then gradually more obvious.  Little was known about FA in those days, and the correct diagnosis took years.

My brothers and I naturally asked if we would get FA, and we were told that it was caused by a mutation and the odds against our being affected were astronomical.

As Patti’s condition deteriorated, our family moved into a house where she could live on one floor, where the local high school was built with one floor, and where she could have animals.  Her horse, Badger, would give her the mobility her legs lacked.  She enjoyed the ducks in the pond, the peacocks and pygmy goats in the yard, and showed lop-eared rabbits.  The family car sported a bumper sticker “Ask me about pygmy goats.”

Garrett and a pygmy goat

She was eventually able to live on her own with the help of aides in an apartment on the Fenway sponsored by the Boston Center for Independent Living.  Whenever we visited her, she was happy to see us come and sad to see us leave.  Eventually we were not able to communicate.  She died at 37.

Patti, baby Garrett, and another rabbit

While today there is still no cure or treatment for FA (research sponsored by FARA is making progress toward those goals), today there is a genetic test to determine whether an individual is a carrier of the genetic defect that causes FA.  Statistically speaking, 25% of children of two parents who are both carriers will have FA.  I have been tested, as have my two children.  Armed with this information, passing of FA from one generation to the next, as happened in our family, can be prevented.

Two generations of Timbies in overalls