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By Matthew Santamaria (msantamaria@hdsa.org)

Sarah Kadel was born and raised in Connecticut. When she was young, Sarah always thought her grandmother was a bit eccentric.

“My grandmother walked in a way that almost looked like she was dancing or drunk,” she explains. “She often flirted inappropriately with men and I remember it making me feel uncomfortable. She often snapped at her grandchildren, sometimes striking us or spewing vitriol words that would cut through us. My grandmother was unpredictable and her relationships always seemed to be under a heavy strain.”

As her grandmother got older, her movements started to become more erratic which included shaky handwriting and confusion. According to Sarah, her grandmother saying “good morning” led to an unsteady hug that almost knocked someone over three times or more all within a half hour.

“Her driving was particularly alarming because she insisted on driving from her home in Florida to where her family resided in Connecticut every summer,” said Sarah. “My aunts and mother knew something was amiss when a stranger called them and said he was with their mother and she was lost. This was on her last trip driving up to Connecticut from Florida – before my aunts and mom intervened and our world turned upside down.”

When Sarah was twenty-years-old, her mother told her that her grandmother tested positive for the gene that causes Huntington’s disease (HD). This 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.

“It is a whirlwind of memories, google searches, and confusion, but I will never forget how I felt when my mom told me,” Sarah explains. “I am thankful for my semesters of evolutionary medicine and biological Anthropology at Central Connecticut State University as I navigated research and articles to figure out what this disease is. The days of confusion and curiosity were quickly replaced with weeks of dread and panic as the grave reality of what this diagnosis meant for our entire family.”

The behavior that Sarah saw from her grandmother were symptoms from HD. The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. This includes personality changes, mood swings, impaired judgement, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.

“When you start to learn about HD, the signs, onset, symptoms, and behavioral changes, you have an opportunity to look back with new insight and information to assess what was really going on with loved ones,” said Sarah. “Everything we thought previously odd fell into place within the lexicon of the HD world.”

Her grandmother was not the only one that tested positive in her family.

Sarah’s grandmother has four children including Sarah’s mother. All four of them tested positive for the gene that causes HD. Her grandmother has eleven grandchildren that are at-risk including Sarah.

“HD takes and takes until there is nothing left,” Sarah explains. “It strips families of financial stability, puts unbelievable strain on relationships, and causes confusion and guilt. I know for a fact that most folks have never heard of HD, as I spend a great deal of time explaining what it is to others. I also do not think folks realize the severe destruction HD causes beyond the physical and neurological damage.”

Each 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 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.

“I cannot imagine what it must be like for my mother, the eldest of the four sisters, to watch her siblings deteriorate just as they watched their mother be consumed by the disease,” said Sarah. “Now, I see the disease changing my mother, the way she moves reminds me of when I was young watching Grammy subtly loose her footing, doing a little “cha-cha-cha” before moving forward again. It is terrifying.”

At twenty-three-years-old, on her birthday, Sarah took advantage of her position in a doctor’s office and tested for the disease.

The decision to get genetically tested is difficult for people at-risk. 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.

Sarah Kadel tested negative.

“So far, I am the first and only negative HD result in our family. As far as I know, I am the only grandchild of my generation to be tested for HD. “It is hard for me to not feel pangs of guilt that I am the only one in my family that got away from HD thus far.”

Sarah is now thirty-three-years-old and her husband currently serves our country in Afghanistan. They have lived abroad for more than ten years before the family came back to the States and now reside in North Carolina near Fort Bragg. Sarah’s mother and aunts are continuing to learn more about HD through the HDSA local Chapters. They have attended HDSA Team Hope Walk events, benefits, and HDSA Conventions.

Sarah has a message for the HD Community:

“It is hard to remain hopeful somedays. It is hard for me to not feel pangs of guilt that I am the only one in my family that got away from HD thus far. The continued progress of research and advocacy of the HDSA are beacons of hope for me, my family, and all families affected by HD. It is so important that we keep sharing our stories, connecting with the humanness of it all, supporting scientific research and clinical trials, and giving what we can. We are all in this together.”

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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. Each 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 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

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