By Matthew Santamaria (email@example.com)
Florida resident Laura Vazac-Muoio is one of three siblings at risk of inheriting 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 during their prime working years and has no cure.
When Laura was about 14-years-old, her mother tested positive for HD. At first, her mother was hesitant about letting Laura know until her family realized the importance of discussing the disease and what it meant for the future.
Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. Laura and her two brothers were now at risk. Her mother watched her own father pass away due to complications from HD and now her mother was in this battle.
Laura, with help from her brothers, would later become the main caregiver and work full-time.
"My mother’s symptoms included depression, anxiety, slurred speech, and emotional outburst,” said Laura.
The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgment, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
As her mother lost the ability to speak, Laura would find different methods to communicate with her mother.
"I would squeeze her wrist three times because I missed my mother saying “I love you” and took the little things for granted,” Laura explains.
This would make Laura grow up fast.
“In hindsight, it made me the type of person that I am today,” said Laura.
Her mother was later placed in a nursing home and passed away in 2003.
However, the HD journey was not over yet. Laura wanted to get married and have children as she thought more about her future. After much consideration, Laura decided to get tested for HD.
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.
At 21-years-old, Laura would test positive for HD.
"I became a stronger person after being tested,” said Laura.
In an effort to create more support in the area, Laura's father started a support group in his living room to help other families affected by HD.
"I was curious about the support group but scared as well,” Laura explains. “However, it turned out to be an amazing experience because I began to relate to those that have had the same experience as me. The support group made me feel not alone in this fight.”
After her father fell ill, Laura started to run support group meetings in a local hospital. In the midst of COVID-19, Laura saw the benefit of transitioning support groups to online platforms because it created an opportunity to reach more families affected by HD.
Now, Laura is taking advantage of yoga and Zumba as she found it beneficial in dealing with HD. She would get married but decided not to have children.
"I have nieces and nephews as my family is the greatest support system as well as friends and members of the HD community,” Laura explains.
Laura has a message for the HD Community:
“You are not alone. We are one big humongous family.”
Huntington’s disease (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 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. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD 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.
HDSA was founded in 1967 by Marjorie Guthrie, the wife of legendary folk singer Woody Guthrie. Woody died from HD complications when he was only 55 years old, but the Guthrie family legacy lives on at HDSA to this day.
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 firstname.lastname@example.org