My journey with genetic testing: a personal reflection

 The next thing I want to share with you is about my experience with genetic testing. When I was in high school my brother, who is 10 years older than me, was getting married and he wanted to know if he was a carrier for Huntington’s Disease (HD) or not before having children. As we’ve talked about before on this blog, if a parent is positive for HD they have a 50% chance of passing it on to each biological child. 

I remember my brother Courtney going through this process with his wife Jamie. He tested negative for HD and in turn he will never have symptoms or pass it on to any children. My brother now has twin boys that are healthy and happy. They just turned 14. 

So when I turned 18 I decided that I wanted to be tested. Everyone thought I was too young and many people tried to talk me out of it but I was determined to get the genetic test done. I was a senior in high school when I started my testing process. It is a long process to get through. You are required to go through a lot of genetic counseling before you make the decision. I remember that my dad did not support my decision at the time and so my aunt took me to my appointments. I was terrified to get the test results. When I went to get my results I had a very big group of my family and friends and I remember them having to go get a bigger room for everyone. My aunt even convinced my dad to come. 

I tested positive for HD in 2002.

I remember when the clinician told me that a positive result means I would be symptomatic one day. I also learned that, like my mom, I have “high CAG repeat”. This means the repeating gene mutation (the CAG segment) that causes HD is quite long. On the average, the longer the gene, the sooner one is symptomatic.  The shorter the gene, the longer until any symptoms appear. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington's disease, while people with 40 or more repeats almost always develop the disorder.

I had 49 repeats just like my mother did. And that meant that I would likely start to get symptomatic around the same age my mother did. 

This was a lot for me to process. I remember it took me a long time.

Soon after, my brother Courtney and his wife Jaime got me plugged into the Northern California chapter of the Huntington’s Disease Society of America. I have been there ever since I was 18 volunteering and helping with all of the fundraisers and events. I went to all of the local conventions and then I went to lots of national conventions. These events always reminded me I was not alone in this fight with Huntington’s disease. I have a big family out there.

Getting genetic testing is a very big, important decision.  And, getting genetically tested is not for everyone. I strongly believe every single person who is at risk should take a long time to think about what is best for them. Please know I support you no matter what.