By Matthew Santamaria (firstname.lastname@example.org)
South Carolina resident Joyce Sireno has known about Huntington’s disease (HD) her entire life. HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It usually deteriorates a person’s physical and mental abilities during their prime working years and has no cure.
When Joyce was young, her uncle was first diagnosed with Huntington’s disease. At that point, the family did not know that HD was in their family.
“My dad’s cousin said there was a lot of ‘that’ in our family,” Joyce explains. “My uncle became a VA resident in Colorado and that is when we learned that our family disease had a name.”
A few years later, her father was diagnosed with HD. From there, she learned more about the family history. According to Joyce, her grandfather and great-grandfather took their own lives as the symptoms of associated with HD became unbearable to live with.
The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgement, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
By the time her father was diagnosed, Joyce was married and in her twenties. She, her brother, and three sisters were at risk for HD. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.
Joyce’s brother and her older sister also tested positive for HD. Her older sister passed away due to complications from HD. Joyce and her younger sister have not been tested and are not symptomatic at this time.
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.
For most of her life, Joyce has been dedicated volunteer for the Huntington’s Disease Society of America. Joyce lived the first thirty-nine years of her life in Minnesota and her mother was an active volunteer, as well. She would hold garage sales, mail newsletters and share HD information to anyone that would listen.
As the years went on, Joyce became the Chapter President of the newly formed HDSA’s Minnesota Chapter
. She assisted in having the Genetic Discrimination Bill pass in Minnesota. The bill bars the use of genetic information in health insurance and employment. She then served as the Vice President of Chapters and Affiliates of HDSA before moving to South Carolina. She now serves on HDSA’s South Carolina Affiliate Board.
Joyce served on various national committees – advocacy being her favorite – for many years.
“I have participated in Walks on the Hill and have lobbied my local representatives for any bill that will benefit HD families,” said Joyce. “I have spoken to graduate students in genetics at Emory University and the University of South Carolina and worked for a while as a patient advocate for Teva.”
Joyce also served on HDSA’s Professional Service Committee. She was on the committee when the Centers of Excellence pilot project was development. There is now 50 HDSA Centers of Excellence that provide an expert team approach to HD care and research. Patients benefit from expert neurologists, psychiatrists, therapists, counselors and other professionals who have extensive experience working with families affected by HD and who work collaboratively to help families plan the best HD care program throughout the course of the disease. Applications to become an HDSA Center of Excellence are open to all clinics in the United States who share HDSA’s commitment to high-quality, comprehensive care and access to clinical research. To learn more about the HDSA Centers of Excellence program please visit www.HDSA.org/coe
“I am so encouraged by the advances that we have made in research for a treatment and/or a cure for HD,” said Joyce. “I feel like we are about to find the answer and that it will benefit so many other families effected by other neurological and genetic diseases.”
Joyce has a message for the HD Community:
“If it was not for this horrific disease, I would not have met and shared experiences and life events with people literally from coast to coast. Some of my best friends – one in particular – I know because of HD and HDSA. And. These people ‘get it’. They know what it is like to live ‘at-risk’ for a disease for which we have no treatment or cure. They understand when I dive headfirst into Survivor’s Guilt each time one of my siblings is diagnosed with HD. I pray that I have made a difference in their lives by being a supportive friend and that I have made a difference in the lives of those who I have met through the organization. That is what we are all about – supporting each other. Especially in the tough times.”
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. Every 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 41,000 symptomatic Americans and 200,000 at-risk of inheriting the disease. In less than 10% of cases, juvenile Huntington’s disease (JHD) affects children & adolescents. JHD usually has a more rapid progression rate than adult onset HD; the earlier the onset, the faster JHD progresses. HD is described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. HD is characterized by a triad of symptoms, including progressive motor dysfunction, behavioral disturbance and cognitive decline.
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