By Matthew Santamaria (msantamaria@hdsa.org)
“Stop waiting for the light at the end of the tunnel to light up on its own. Instead, light it up yourself!”
This is the mindset of 28 year old Stephany Oades. She is from Southern California and lives in Corona. Stephany could not ask for a better life with mostly beautiful weather and little to no snow. She is also a hard and diligent worker.
Stephany received her degree in diagnostic sonography from Loma Linda University. Upon graduation, she was hired by C.H.O.C. Hospital in Orange, California, where she used specialized equipment to generate images used for assessing and diagnosing various medical conditions.
Resilient is a word that comes to mind when describing Stephany. At the age of 10 years old, her father passed away as a result of 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.
Stephany struggled with losing her father to this fatal disease, he was the apple of her eye. She has also struggled with the reality that one day she might have it. Yet, she persevered with the goal of seeing her hopes and dreams accomplished. 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.
In 2017, at the age of 26 years old, she tested gene positive for the HD gene and was diagnosed as symptomatic. This would change her life. Stephany worked incredibly hard to receive her degree, however, because of the symptoms of the disease, she realized that she could no longer work in diagnostic sonography due to the physically and mentally demanding natrure of the job. These symptoms can be described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.
Between the ages of 30 to 50, symptoms can usually appear and worsen over a 10 to 25 year period. This includes personality changes, impaired judgement, involuntary movements, and slurred speech as this is only one of the symptoms that patients can have.
“Ever since I got diagnosed with this fatal disease, I have felt helpless since there is currently no treatment or cure,” said Stephany. “Life with HD can seem very dark and isolating.”
This would not get Stephany down for long as she created a negative into a positive. She is constantly raising awareness for HD through various social media platforms. She has hope that one day there will be a cure and she will never lose that hope.
“My family and I still remain hopeful and positive that one day a cure will come,” said Stephany. “I remain steadfast in hope that a cure will be available in the near future.”
She will also be taking part in the Natural History Study for Roche’s RG6042 in Vancouver, Canada. Stephany will be taking part in this 15-month observational study that is looking to better understand the natural progression of HD. There is no drug treatment in this study, however at the end of the 15-months, Stephany will be able to receibe the drug RG6042 through Open Label Extension. It will include up to 100 participants with Stage I and II HD at 17 sites in Canada, Germany, the United Kingdom, and the United States.
Stephany continues to remain hopeful and always stays positive. She wants the HD community to know that there is light at the end of the tunnel. Here are Stephany’s tips for those in her shoes:
• Turn to gratitude and remember that your situation can always be worse. Think of people in third world countries who literally have nothing.
• Keep yourself busy and surround yourself with friends and family who will uplift you. Think of the people who were in your life and showed up during the hard times. Keep those people close.
• Make a bucket list and complete it with your loved ones. I know it sounds weird and sad, but I have had some of the best moments ever with my bucket list and people I love.
###
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 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 msantamaria@hdsa.org
“Stop waiting for the light at the end of the tunnel to light up on its own. Instead, light it up yourself!”
This is the mindset of 28 year old Stephany Oades. She is from Southern California and lives in Corona. Stephany could not ask for a better life with mostly beautiful weather and little to no snow. She is also a hard and diligent worker.
Stephany received her degree in diagnostic sonography from Loma Linda University. Upon graduation, she was hired by C.H.O.C. Hospital in Orange, California, where she used specialized equipment to generate images used for assessing and diagnosing various medical conditions.
Resilient is a word that comes to mind when describing Stephany. At the age of 10 years old, her father passed away as a result of 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.
Stephany struggled with losing her father to this fatal disease, he was the apple of her eye. She has also struggled with the reality that one day she might have it. Yet, she persevered with the goal of seeing her hopes and dreams accomplished. 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.
In 2017, at the age of 26 years old, she tested gene positive for the HD gene and was diagnosed as symptomatic. This would change her life. Stephany worked incredibly hard to receive her degree, however, because of the symptoms of the disease, she realized that she could no longer work in diagnostic sonography due to the physically and mentally demanding natrure of the job. These symptoms can be described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.
Between the ages of 30 to 50, symptoms can usually appear and worsen over a 10 to 25 year period. This includes personality changes, impaired judgement, involuntary movements, and slurred speech as this is only one of the symptoms that patients can have.
“Ever since I got diagnosed with this fatal disease, I have felt helpless since there is currently no treatment or cure,” said Stephany. “Life with HD can seem very dark and isolating.”
This would not get Stephany down for long as she created a negative into a positive. She is constantly raising awareness for HD through various social media platforms. She has hope that one day there will be a cure and she will never lose that hope.
“My family and I still remain hopeful and positive that one day a cure will come,” said Stephany. “I remain steadfast in hope that a cure will be available in the near future.”
She will also be taking part in the Natural History Study for Roche’s RG6042 in Vancouver, Canada. Stephany will be taking part in this 15-month observational study that is looking to better understand the natural progression of HD. There is no drug treatment in this study, however at the end of the 15-months, Stephany will be able to receibe the drug RG6042 through Open Label Extension. It will include up to 100 participants with Stage I and II HD at 17 sites in Canada, Germany, the United Kingdom, and the United States.
Stephany continues to remain hopeful and always stays positive. She wants the HD community to know that there is light at the end of the tunnel. Here are Stephany’s tips for those in her shoes:
• Turn to gratitude and remember that your situation can always be worse. Think of people in third world countries who literally have nothing.
• Keep yourself busy and surround yourself with friends and family who will uplift you. Think of the people who were in your life and showed up during the hard times. Keep those people close.
• Make a bucket list and complete it with your loved ones. I know it sounds weird and sad, but I have had some of the best moments ever with my bucket list and people I love.
###
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 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 msantamaria@hdsa.org