7.08.2014

HD and genetic testing





Hi readers-
I am going to share a little bit about the genetic testing process of Huntington's Disease.

Huntington's disease runs in families. My grandfather had the gene, which means that his 13 children would all have a 50/50 chance of having the gene. My dad got the gene from his dad which means that my sister and I have both had a 50/50 chance of getting the HD gene. We could have been tested at age 18, but we both decided that we didn't want to. We lived each day by a Garth Brooks song, "our lives are better left in chance. My personal choice was that I did not want to know until I had kids, or until I was showing signs.


I was diagnosed in March of the past year and was able to be
 diagnosed by my neurologist  because of my signs of HD.


In order into be tested I had to see a genetic counselor until I was ready. In January I started seeing Lauren, and my blood was drawn in May. Since I had the diagnosis from my signs, I did not have to take the blood test but it was some thing  I wanted done.


I got my results the other day.  I had my mom, sister, and step dad Ken with me. Lauren told us what we already knew-that I am gene positive. I asked Lauren what my CAG number is and she told me it is 58 from my dad and 19 from my mom. Everyone  is born with to two HD genes. If the gene repeats to many times, my gene from my dad repeats 58 times, they are considered positive for HD. The average person with HD begins showing signs between 30 to 50 and their gene repeats 40 to 44 times.  I was showing signs at 23 and my gene repeats 58 times. Does my high  number a scare me?
With out a doubt But it does make sense. The earlier the signs the higher the number. Lauren assured  me that the test results do not change the progression or the way they treat me.


I am really thankful and agree with my decision to wait until I was showing signs to test. If I had been tested before knowing my CAG number is 58, I would have been really scared knowing that my signs of HD would more than likely start early.

I wanted to thank Dr. Frank and Lauren for preparing me so well.  I was at  a point where I knew what to expect and I am handling the news well. I couldn't have gotten to that place without them.

"I could have missed the pain, but I would have had to miss he dance," Garth Brooks


As always thank you for reading, this blog has become  my safe haven.

Alexandra