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By Matthew Santamaria (msantamaria@hdsa.org)

North Carolina resident Christie Vann has known about Huntington’s disease (HD) her entire life. HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure.

In 1979, her grandfather passed away due to complications from HD. Her great grandmother also had the disease as well as other members of the family, some of whom never acknowledged the disease.

During her high school years, Christie once had a school assignment about HD, At the time, Christie’s mother told her more about the disease, reinforcing the realities of HD in their family and the importance of educating yourself about HD.

Her mom and aunt participated in an HD observational study. Christie never noticed any symptoms in her mom and never thought about her mom having HD. She always thought it was mom being mom.

The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. Symptoms include personality changes, mood swings, depression, impaired judgement, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.

Christie knew cousins who had passed away from HD but limited interactions with someone affected with the disease firsthand. When she was in her early twenties, Christie asked her mom about her HD observational study and wanted to know if she could enroll in the study. Her mom told her that it was not necessary, possibly as a way of letting her liver her life.

For more than thirty years, her mother was a successful science teacher. She started to exhibit symptoms consistent with HD around her retirement, including changes in emotional status and involuntary movements. In 2008, Christie’s mother tested positive for HD. Christie’s father and sisters became her caregivers alongside other family members who assisted.

Once her mother tested positive, Christie and her sister knew they were at risk for HD. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes HD.

In Christie’s personal life, she wanted to be honest about HD in relationships. In 2001, she met Chad and explained HD to him. Chad understood Christie’s at risk status and the complications that could come with HD. They would soon marry.

Between five and six years ago, Christie was working as a meeting planner. She started to get confuse with her day to day work responsibilities and developed apathy towards her job. This led her to be tested for HD.

The decision to be genetically tested is difficult to make. Each year, 5-10% are tested. It is never the right or wrong decision to be tested. There are people that see no benefit in knowing that they will develop the disease while others want to know in order to make informed choices about their future. It can take up to several weeks to receive your results from the genetic testing center.

Her results came back and Christie tested positive. According to Chad, he was not surprised by the diagnosis but it didn’t make it easier for him.

The couple continued to go to HD support groups in the area, a routine started after her mother’s diagnosis, and they realized they are not alone. Because of the support groups, they have made close friends through their HD journey. In the journey, Chad has learned to be patient and understanding as Christie deals with the progression of the disease.
 

Chad and Christie have praised the medical staff at Duke University Medical Center. This is one of the 50 HDSA Centers of Excellence that provide an elite team approach to HD care and research. Professionals have extensive experience working with families affected by HD and work together to provide families the best HD care program.

After Christie tested positive for HD, she would see Dr. Burton Scott, Director of Duke University Medical Center, monthly. Dr. Scott would also talk to Chad to see how he was doing. Chad and Christie have also spoke to Dr. Scott’s class at Duke University as well as a Speech Pathology class at the University of North Carolina, educating new caregivers about HD.

Christie has also participated in the Signal Trial, an investigational approach to early treatment of HD. The trial is designed to assess the safety, tolerability, and effectiveness of VX15, a novel monoclonal antibody, in people with late prodromal (not yet diagnosed) or early manifest (early in the progression of the disease) HD.

Chad and Christie have their goddaughters, nieces and nephew that are a big part of their life. The family will not give up for a cure to HD.
 
They have a message for the HD Community:

“Keep fighting, keep hoping, and find a cure.”

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Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain.  It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease. Today, there are approximately 41,000 symptomatic Americans and 200,000 at-risk of inheriting the disease. In less than 10% of cases, juvenile Huntington’s disease (JHD) affects children & adolescents. JHD usually has a more rapid progression rate than adult onset HD; the earlier the onset, the faster JHD progresses. HD is described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. HD is characterized by a triad of symptoms, including progressive motor dysfunction, behavioral disturbance and cognitive decline.

The Huntington’s Disease Society of America 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