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By Matthew Santamaria (msantamaria@hdsa.org)

Rhode Island resident Lori Oneto knew there was something off with her mother. However, the family did not have a medical answer for her.

It wasn’t until her mother was in her late-70s that the family finally found out what was wrong. Lori’s mother tested positive for the gene that causes Huntington’s disease (HD).

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.

“She was definitely symptomatic for at least three decades before her diagnosis,” Lori explains. “Symptomatic with practically every behavioral and cognitive symptom of Huntington’s disease there is.”

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

“It's difficult to articulate the extent of the damage those symptoms wreaked on our family,” said Lori. “HD: The Destroyer of relationships, security, and livelihoods. HD: The Author of confusion, chaos, and guilt. Suffice to say when the diagnosis finally came there was a collective sigh of relief in that at least there was an explanation for all of it.”

At the time, Lori was forty-two-years-old with two children (eleven-years-old and seven-years-old). She wanted to get tested for not just herself but for her children as well.

The decision to get 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.

“I desperately wanted to be negative for them for two reasons,” Lori explains. “First, to spare them the horror of a front row seat to my eventual decline. Second, to spare them from having to live their lives under the cloud of wondering if they, too, inherited the gene.”

However, Lori would test positive for the gene and her two children are now at risk of inheriting the disease. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.

“Since then, I have learned to focus on living each day to the fullest,” Lori explains. “Loving my inner circle-my husband of thirty-two years, my children who are now twenty-one-years-old and twenty-six-years-old, my extended family, and a few close friends. I find strength and hope in my God.”

Lori has praised HDSA for giving her the right resources as well as gaining more family members.

“HDSA has been instrumental in helping me get connected to resources, research studies, and the annual convention keeps me connected to my extended HD family, with whom I feel a deep connection; as only they can truly understand HD,” said Lori.

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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