Living with HD - Lesia's Story

In the next series of posts, I'll be telling the story of three people who live with, or are at risk for, Huntington's Disease.  

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An HD diagnosis affects multiple generations.    Each child of an affected parent has a 50/50 chance of inheriting HD.  Those who test positive for the defective gene will develop Huntington’s Disease and some families lose whole generations.

Our family has received support from the international HD community.  We’ve attended the Huntington’s Disease Society of America yearly conference where HD families connect with others around the world.    We’ve also joined the Facebook page Huntington’s Disease Support – The Good, The Bad, and The Ugly.  Through these services, we have met Lesia Fry, Alys Bloch, and Drew Earls (psuedonyms).    These friends have shared their own journey as their respective families deal with Huntington’s Disease, and have agreed to allow me to write about their experiences.

Lesia spent years trying to get help for her mother. “We knew my mom had maybe a stroke or something.  She has been very odd for about 15 or 20 years,” Lesia told me.  She had no idea that there was a genetic component to her mother’s illness.  Lesia detailed her quest to find out what was ailing her mother.  “I first went to her primary care physician ten years ago.  He referred us to a ‘renowned’ local neurologist who told me my mother must have a B-12 deficiency or something.  He sent me home saying to look up ‘chorea’ on the internet, and gave us a prescription for a head PET scan.”

That night Lesia said, she “went nuts” looking up chorea.  What she found was frightening.  “It led me to [the possibility of] three different diseases.” Lesia automatically ruled out two of them, leaving only the third; Huntington’s Disease.   “The symptoms read like they had lived with my mom for 20 years.  I knew that was it.”   

While Lesia thought she had a good case for the doctor to pursue testing for HD for her mother, the doctor insisted she must be wrong.  “He told me there was no way it was HD, that I had to be wrong because of the late onset.  I called multiple times saying it wasn’t late onset, that these symptoms had been going on for years.  He never listened.”

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Lesia did not give up.  “I found the University of South Florida HD Center of Excellence.  I emailed them and they immediately responded.  The asked me why I thought my mother had HD.  I told them about the last 20 years with my mom and they made an appointment for us.  They agreed to test her.”  Six months later, Lesia’s mother was diagnosed with Huntington’s Disease.