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Amy Smrtnik's Story
At the end of the year 2000, I found out a terrible family genetic secret that my grandfather (on my dad's side of the family) died of Huntington’s Disease. There was a genetic test for this 50/50 disease, and my dad received his positive results back in early 2001. He had been sick with early symptoms for at least 15 years before he was officially diagnosed. Throughout the last 25 years of his life he slowly lost his ability to talk, walk, control his movements, and swallow, and he finally died of aspiration pneumonia in December 2009 because he could no longer swallow.
My scientific mind needed to know if I had the gene, and at the end of 2001 I received my positive test results which meant there was a 100% chance I would show symptoms someday. I was afraid of the genetic discrimination so I chose to not tell most people at work. There is no way I would have survived without my faith in Christ which has given me joy, peace, hope and perseverance in the midst of my trials.
About 5 years ago right after I started my current job, I noticed I was showing the early symptoms of the disease like not being able to walk straight, tripping, and walking into walls.A doctor online recommended some supplements which I began to take, and they helped immensely for about 2 years. By January 2010 when those stopped working I got involved in a clinical trial in San Diego for a drug called Huntexil. By the end of the 3 month long trial I was feeling better than I had been in years. I then waited over a year before I was able to start the open-label study of Huntexil in June 2011, so I am now on the highest dose of the trial medicine. It is helping nearly every symptom, and I am feeling better and better every week. It isn't a cure, but it gives me hope for the future. If the trial hadn’t started exactly when it did, I would have been forced out on disability years ago. While I have been on the open label trial and my mind has been steadily improving, I had a series of random little health problems that wore me out; and I finally went out on disability is summer 2012 when my ulcerative colitis flared up. I will hopefully be going back to work soon. I have the intent on getting involved in every trial possible. This is why we need to raise funds to help find better trials for and medicines until eventually there is a cure for Huntington’s.
I am walking in the 2013 Huntington's Disease Society of America's (HDSA) Team Hope Walk - Orange County on April 27, 2013 in Irvine. To make a tax deductible contribution, click the link below to donate:
I would be thrilled if anyone wanted to walk with me or volunteer at the walk.