Study participation gives sense of purpose

(an excerpt from this article appeared in the Summer 2014 edition of the PREDICT-HD Press

 

After finding out she tested positive for HD, Kasci Brantley decided to take action and do something proactive by participating in PREDICT-HD, and sharing her story with her fellow participants and the general public.

 

By Kasci Brantley

PREDICT-HD Participant

 

About a year ago, I was just a normal 25-year-old mother who didn't even know what Huntington disease was. I will never forget the day that all changed.

 

Bella Kasci David
(from L to R) University of Iowa PREDICT-HD Coordinator Bella De Soriano, participant Kasci Brantley and her husband David Brantley at Kasci's PREDICT-HD study visit in 2013.

My husband David and I had just returned home from my brother and sister-in-law's wedding and I was exhausted from driving three and a half hours from St. Louis to Evansville, Ind. My husband and I carried our two sleeping babies, ages two and seven, into the house and tucked them into bed. That's when I read a Facebook message from my biological sister, informing me that our biological father was diagnosed with HD. My biological father has never been an active part of my life and his other children, my biological siblings, keep in contact with me mostly via Facebook.

 

After getting news like that, I was so confused. I felt like the rug had been pulled out from under me. I Googled HD and read every single site I could find for more information. When I learned my children had a 50-50 chance of having the HD gene, it became like every parent's worst nightmare. As a mother, I want to protect my two sweet babies from absolutely everything that's evil or harmful to them, but it broke my heart that I couldn't protect them from this.

 

I was in total shock. I immediately decided that I wanted to get tested, with no second thoughts. I discovered the Huntington's Disease Society of America's website and contacted HDSA for more information. A really caring, kind lady gave me more than enough information about the disease. She gave me tips on what to do before getting tested and how to go about getting tested the proper way. Unfortunately, I couldn't afford to go through the testing procedure HDSA recommended, so I called my biological father's neurologist and was shocked when he offered to do the testing for me without charge. He told me that since my biological father was diagnosed with Huntington disease and it's a genetic disease, I had a 50-50 chance of inheriting the gene expansion for HD. I got the blood test right away and waited two agonizing weeks for the results.

 

When the call finally came from the nurse at the neurologist's office, I knew it was bad news. The woman on the phone told me I needed to come in right away. My husband was at work when I got the call and I thought everyone close to me was busy or out of town that day, so I packed up my kids and we went alone. Thankfully, I wasn't alone for long, as my best friend, out of the kindness of her heart, surprised me by meeting me at the doctor's office.

 

When we walked into the doctor's office, the nurse had tears in her eyes, and she asked if she could watch the babies in the waiting room while the neurologist spoke to me in the exam room down the hall alone. I could tell it was bad news by the way she was acting, and then she hugged me and said that she was so sorry. I stayed strong and turned to walk down the hall like nothing was wrong because I didn't want my children to see me upset or crying, not wanting to scare or worry them. The neurologist led me into an exam room.

 

As he sat across from me, he seemed to be at a loss for words. He just stared at me for what felt like forever without saying a word. Looking back putting myself in his shoes, I imagine he was looking at how young I was and thinking that he was about to say those tragic words that would change my life forever. I could tell he didn't want to tell me, so I summoned up my courage and said, "I have it." He was stunned for a moment and finally nodded his head as he answered, "Yes, I am afraid you do." I took a deep, steadying breath and asked him what my CAG repeat number was. He answered "46." I asked him what this means and he said it put me in the highest category on the repeat chart. He said my children were at a 50 percent risk of having it too. He told me to get my will, life insurance and health insurance in order before making any more decisions. I am forever grateful that the neurologist did the test for me for free because I couldn't have afforded to pay for it out of pocket. But I left there that day with a dark cloud over my life that wasn't there when I walked into the doctor's office. My life was forever changed.

 

For about a month after that dreadful day, I was depressed. The doctor called it reactive depression and he said it was normal after finding out that you have a fatal disease. I cried a lot more than I would like to admit during that period. But one day, I just decided that I wasn't going down without a fight. That's when a thought occurred to me. There are research groups all over the world who study Huntington disease and try to find a cure every day. Surely they need people with HD to study and perform tests on. I could help them! I could fight this horrific disease with them!

 

Once again, I turned to the HDSA website and found links to research studies and trials going on all over the world. I found out about the PREDICT-HD study in Iowa and decided to email them to see if I could help. A really sweet guy with the study named Sean Thompson emailed me back and gave me a lot of information about the trial. We then spoke on the phone and he asked me some questions to determine whether or not I would qualify for the study. He answered every one of my questions and provided me with a lot of information about what they do in PREDICT-HD. After it was determined that I was a prime candidate for the study, I spoke on the phone with the study coordinator Bella De Soriano. She explained every detail of the study: What it would consist of, how the compensation works and how they use the information to find early predictors in people with Huntington disease as they progress by testing them every year. We booked a date for the study and they took care of all of the planning and details for me. I was thrilled to finally feel like I was able to fight back against the HD monster that was trying to take over my body.

 

When it came time to travel to Iowa for the visit in November, I didn't have to worry about a single thing. All I had to do was show up at the airport and follow the itinerary that Bella had mailed to me. My husband went with me and together, we flew to Iowa, checked into the lovely hotel that had been reserved for us and settled in for the night. I was so excited to get started with the study the next day.

 

The following morning, Bella was there waiting for us when we arrived and she was just as sweet in person as she was on the phone and in emails. She led us back to her office and we got started straightaway. She frequently reminded me that she wanted me to be completely happy and comfortable and that I could back out at any time if I changed my mind. I assured her that I don't have any other way to fight back against HD and I wasn't backing down.

 

Bella led us through the various tests and parts of the study over the next two days. She always had a smile on her face and a warm, loving nature. She really took great care of me. I was mostly afraid of the spinal tap, but I was pleasantly surprised that it was just a little pressure and a small prick. The tests went quickly and I was able to enjoy and explore Iowa City in the afternoons after the tests were completed each day. Every single person that I came into contact with there was incredibly kind and caring. They made me feel like part of their little "PREDICT-HD family."

 

I really enjoyed meeting Bella, Sean, the rest of the PREDICT-HD crew, and the various hospital staff who helped me along the way. Doing the study gave me a sense of purpose. I haven't felt depressed or sad one single time since doing the study. I was never uncomfortable or in pain, and I actually enjoyed the trip. It was like a mini-vacation, except that I returned with a sense of purpose. I am helping in the fight against HD. I am helping fight for my future, my children's future, and the future of everyone affected by this horrible disease. No one has to fight this alone. Let's fight Huntington's disease together. 

 

(For more information on genetic testing for HD or to find a genetic counselor in your area, see resources from the HDSA and National Society of Genetic Counselors)