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By Matthew Santamaria (msantamaria@hdsa.org)

The relationship between a mother and daughter can be as strong as oak. That can be described for Lori Ann Bowler and her daughter Kristi. During the summer time in New Jersey, they spent many days on the beach together to see who would be tanner. Through thick and thin, her mother was always there for her.

“Growing up I chalked it up to being an only child and getting spoiled, but in reality it was just her wanting to cherish every moment she had with me,” said Kristi. “She wanted me to enjoy life while she was here to see it and live it. If there was a way to make my life easier she was going to do it while she could.”

However, life was not going to get easier for her mother. Lori Ann’s father passed away due to complications associated with Huntington’s disease (HD). This is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure.

During her prime working years, at age 33, Lori Ann was officially diagnosed with the disease shortly after her father passed away. After becoming diagnosed, she left her job as a secretary and became a stay at home mom. Kristi was only 12 years old when her mother told her.

“HD has been a part of my life since I can remember, it defined my family for years,” Kristi explains. “I didn’t really understand what my future was going to look like or what was in store for our family at that point in time, but I knew what my grandfather had went through and what his end result was.”

What makes matters worse is Lori Ann and her father were not the only ones diagnosed with the disease. Her twin sister, little sister and brother were diagnosed as well. The family ended up moving to Virginia to live with Kristi’s grandparents. They had family in the Richmond area and were seeing a doctor at the University of Virginia, one of the 47 HDSA Centers of Excellence programs.

Lori Ann did not know how much time she would have in life but she wanted to spend every moment she could with her daughter. She supported Kristi in every sport she played and every club that she was in. When Kristi was in high school, her mother never missed one field hockey or softball game.

“She absorbed and appreciated every moment she had to watch me grow up and was always my biggest fan,” said Kristi. “She did everything for me and always made sure I had everything that I ever wanted. My mom wanted me to enjoy life while she was here to see it and live it.”

It wasn’t until her senior year of high school that she realized just how sick her mother truly was. It was prom season and all of her friends talked about how they went shopping with their mother for dresses. However, her mother could not do this with her because she was in the hospital getting a feeding tube put in as it was difficult for her to swallow food. Her father ended up saving the day and go shopping with her.

“Not only did she have this uncontrollable future but she knew that she more than likely wouldn’t be here to help me buy my prom dresses, put on my wedding gown, watch me become a mother, or help me decorate my first house,” Kristi explains. “The little things and experiences you take for granted as a mother were slipping away from her and there was nothing she could do because the disease has a path of its own.”

Between December 2008 and August 2011, all four family members diagnosed passed away. “The night before I went to the hospital to see her and sit with her while my Dad went home and showered. I laid in bed with her, holding her hand and just talking, she loved hearing stories,” says Kristi.

“I went back to the hospital the next morning before I had to go work, I held her hand, I told her I loved her and I’d see her after work, I wasn’t at work for more than 5 minutes before I got the call that she had passed. She was the most giving and kind hearted person until her very last breath and I strive every day to be half of the woman she was.”

For Kristi’s case, she has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease. She has not been tested yet and it is a decision that she is struggling with. In her case, she does not want the results to negatively affect how she lives her life. She is focusing on the positive outlook in life and her mother wouldn’t see it any other way.

Currently, Kristi resides in Chesterville, Virginia. She is an area manager for a tanning salon and is looking to purchase the salon in a few years when the owner retires. On May 5th, she will be married and continue to live her life to the fullest but never forget the memories she had with her mother.

“Losing her changed me forever,” Kristi explains. “NO matter what obstacle I’m facing I’m thankful for every single day- the good and the bad. Because of all the gifts my mother gave me from her life and death, gratitude is the most important.”

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​The Huntington’s Disease Society of America (HDSA) is the premier nonprofit organization dedicated to improving the lives of everyone affected by HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with HD and their families.

To learn more about Huntington’s disease and the work of the Huntington’s Disease Society of America, visit www.HDSA.org or call 1(800)345-HDSA.

This is a story featuring a personal experience with Huntington’s disease. If you would like to have your story told please contact Matthew Santamaria at msantamaria@hdsa.org