By Matthew Santamaria (msantamaria@hdsa.org)
The following story features someone who was willing to bravely share their story, but asked to remain anonymous.
Mississippi resident “Alexa” remembers going to the nursing home to see her grandfather. When he was about 65-years-old, he was diagnosed with 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 during their prime working years and has no cure.
He had three children that were now at risk for HD including “Alexa’s” mother. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
According to “Alexa”, she noticed that her grandfather had stiff arms and did not talk much. He later passed away, but it was unclear what caused his death.
The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgement, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
“Alexa’s” mother had five children. She decided to not be tested because she wanted to live her life to the fullest.
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.
According to “Alexa”, as the years went on, she noticed that her mother’s personality was changing as she suffered with depression and alcoholism. At first, she thought that her mother was trying to get attention. Her mother and father were divorced so her father mainly took care of the five children.
“Alexa” knew the chances of her mother having HD but this was not thought of at first. However, as the symptoms started to progress, it became more apparent that she may have HD. One summer, she took her mother for a trip and had a difficult time controlling her mother. According to “Alexa”, that trip compared to taking care of a child. She also had a difficult time swallowing her food which later resulted in surgery.
It was her children that convinced her to be tested for HD as they wanted to know their future. Her mother told the family that the results were inclusive, but this was not the case as she tested positive.
According to “Alexa”, HD may have explained what her mother has been through and why she was unhappy. Her mother is the only one of the three children that tested positive.
“Alexa” and her four other siblings were now at risk for HD. “Alexa” is a single mother and wants to be tested for HD. Through her family history, she has learned to be self-cautious and talks to online support groups. She wants a plan in place for her children in case she tests positive. According to “Alexa”, her siblings are processing HD differently.
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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 msantamaria@hdsa.org
The following story features someone who was willing to bravely share their story, but asked to remain anonymous.
Mississippi resident “Alexa” remembers going to the nursing home to see her grandfather. When he was about 65-years-old, he was diagnosed with 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 during their prime working years and has no cure.
He had three children that were now at risk for HD including “Alexa’s” mother. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
According to “Alexa”, she noticed that her grandfather had stiff arms and did not talk much. He later passed away, but it was unclear what caused his death.
The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgement, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
“Alexa’s” mother had five children. She decided to not be tested because she wanted to live her life to the fullest.
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.
According to “Alexa”, as the years went on, she noticed that her mother’s personality was changing as she suffered with depression and alcoholism. At first, she thought that her mother was trying to get attention. Her mother and father were divorced so her father mainly took care of the five children.
“Alexa” knew the chances of her mother having HD but this was not thought of at first. However, as the symptoms started to progress, it became more apparent that she may have HD. One summer, she took her mother for a trip and had a difficult time controlling her mother. According to “Alexa”, that trip compared to taking care of a child. She also had a difficult time swallowing her food which later resulted in surgery.
It was her children that convinced her to be tested for HD as they wanted to know their future. Her mother told the family that the results were inclusive, but this was not the case as she tested positive.
According to “Alexa”, HD may have explained what her mother has been through and why she was unhappy. Her mother is the only one of the three children that tested positive.
“Alexa” and her four other siblings were now at risk for HD. “Alexa” is a single mother and wants to be tested for HD. Through her family history, she has learned to be self-cautious and talks to online support groups. She wants a plan in place for her children in case she tests positive. According to “Alexa”, her siblings are processing HD differently.
“Alexa” has a message for the HD Community:
“Your family deserves to know about HD. For the people that love you, they need to be there for you.”
“Your family deserves to know about HD. For the people that love you, they need to be there for you.”
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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 msantamaria@hdsa.org