By Matthew Santamaria (msantamaria@hdsa.org)
The following story features someone who was willing to courageously share their story, but remain anonymous.
Oregon resident Frank and his wife adopted five children, but the couple did not know what was to come for one of their children.
As years went by, their oldest daughter would eventually meet her birth mother, but she was met with a revelation. Her birth mother was in her forties and was diagnosed with 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 during their prime working years and has no cure.
Frank’s daughter was scared, but she wanted to live her life and was glad she finally met her mother. By the time she was in her twenties, she had three children and wanted 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.
It would come back positive which also meant her three children are now at risk. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
As the children got older, she started to show more HD symptoms. 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.
Frank would get more involved with the local HD Community in Oregon. The family went to a local event and their daughter was gone for a period. According to Frank, she was crying in the bathroom because she noticed people in the late stages of HD.
Frank would walk her back in the room. He asked her what every person in the room has in common… besides having HD. Everyone had a family member at that table. He wanted to show her that family will always be there for you no matter what and you will never fight this alone.
At the age of 44-years-old, Frank’s oldest daughter died. According to Frank, two out of three grandchildren tested positive for HD. As he told his daughter, he reminds his grandchildren that family will always be there for you.
For the past ten years, Frank has gone to the Portland Team Hope Walk and urges more people in his local community to be involved. As he has dealt with loss, he knows he has a community to rely on.
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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 courageously share their story, but remain anonymous.
Oregon resident Frank and his wife adopted five children, but the couple did not know what was to come for one of their children.
As years went by, their oldest daughter would eventually meet her birth mother, but she was met with a revelation. Her birth mother was in her forties and was diagnosed with 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 during their prime working years and has no cure.
Frank’s daughter was scared, but she wanted to live her life and was glad she finally met her mother. By the time she was in her twenties, she had three children and wanted 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.
It would come back positive which also meant her three children are now at risk. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
As the children got older, she started to show more HD symptoms. 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.
Frank would get more involved with the local HD Community in Oregon. The family went to a local event and their daughter was gone for a period. According to Frank, she was crying in the bathroom because she noticed people in the late stages of HD.
Frank would walk her back in the room. He asked her what every person in the room has in common… besides having HD. Everyone had a family member at that table. He wanted to show her that family will always be there for you no matter what and you will never fight this alone.
At the age of 44-years-old, Frank’s oldest daughter died. According to Frank, two out of three grandchildren tested positive for HD. As he told his daughter, he reminds his grandchildren that family will always be there for you.
For the past ten years, Frank has gone to the Portland Team Hope Walk and urges more people in his local community to be involved. As he has dealt with loss, he knows he has a community to rely on.
Frank has a message for the HD Community:
“God Bless and keep up the great work.”
“God Bless and keep up the great work.”
###
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