By Matthew Santamaria (firstname.lastname@example.org)
When Melora Rini was younger, her family told her very little about Huntington’s disease (HD) until her grandfather was diagnosed with the gene that causes 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.
“I remember heated conversations my parents had behind closed doors about whether or not I should see him,” said Melora. “It was only on special occasions that we would visit my grandfather's house, but even then he rarely came out of his room.”
At the age of ten-years-old, alongside her parents, Melora went to see her grandfather. Her mother told her to say goodbye to him but she was confused about the situation. Her grandfather would soon pass away due to complications from HD.
“HD took the man who taught me my first knock-knock joke and would walk me to the corner store to buy me an ice cream every day,” Melora explains.
After her grandfather passed away, Melora began to ask more questions about the disease. She learned that her mother has a chance 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.
“Soon, I would be immersed in the disease that my parents fought to protect me from,” said Melora.
As Melora got older, she began to notice HD symptoms in her mother which included angry outburst and nervous breakdown.
The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, impaired judgement, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
“At thirteen-years-old, it was pure horror to watch HD grasp on to my mother,” said Melora. “At only fifteen-years-old, it was my responsibility to run the household and go to school. Instead of my mother being able to turn to her siblings for assistance, we found that they too had HD and soon followed in her symptomatic footsteps.”
When she was nineteen-years-old, she started attending support group meetings.
“This is when I learned that I could make a difference and all I needed to do was use my voice,” said Melora.
She used her voice to get her mom the best care possible at home because her mother’s wish was to not be in a care facility. Melora has been a facilitator in the same support group for more than thirty years. For two years, she has also been the Vice President of HDSA’s Orange County Chapter Board.
As for her Huntington’s disease future, Melora was tested for the disease.
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.
Melora tested negative for HD.
“My life has been shaped by being a caregiver and living for more than half of my life preparing to die from the very disease that I watched take my grandfather, mother, aunts, uncles and cousins,” said Melora. “While I was fortunate to be blessed with a negative test, it took courage and support to be tested.”
On October 26th, 2019, Melora will be honored by HDSA’s Orange County Chapter as the Walk Ambassador for the Orange County Team Hope Walk. The event will take place at Santa Ana Zoo at Prentice Park.
“As HDSA Orange County Team Hope Walk Ambassador, I will continue to use my voice to fight for all who are touched by this illness,” said Melora.
For more information about the event, click here
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 email@example.com