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By Matthew Santamaria (msantamaria@hdsa.org)

California resident Katherine Gupton is thirty-six-years-old and is a single mother of two daughters.

Katherine learned about Huntington’s disease (HD) at an early age. 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.

She was only in first or second grade when her grandmother, on her father’s side, passed away due to complications from HD. According to Katherine, she remembers her being in a wheelchair and moving oddly.

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.

In seventh grade, her class was learning about genetic disease and had to do a school report.

“After school the day we got the assignment, I got into the car with my mom and asked her what grandma died of,” Katherine explains. “My mom said HD and I asked if it was genetic. She said no and I put out of my mind. Therefore, awareness is SO important.”

Katherine lived with her sister and her parents until she was twenty-years-old. She would then move to Modesto, California with her best friend. Katherine would fall in love with her co-worker. They would eventually get married and had their oldest daughter named Kay. The family would then settle in Ripon.

Katherine was then pregnant with her youngest child, Ash. Around this time, Katherine’s father started to be careless with money. Katherine’s mother made him 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.

Katherine’s father tested positive for the gene that causes HD.

“Ash was born and I had post-partum depression,” said Katherine. “The knowledge that my father, my hero, has this horrible disease that I was in jeopardy of having and could possibly pass it on to my beautiful daughters spiraled me into the darkness. My husband was not helping in any way except for the night I walk in on him doing methamphetamine and he asked me if I wanted to try it. I had dabbled in it when I was younger so I desperately tried it and sure enough it was like I could handle anything.”

One year later, she was still using drugs and her marriage was failing as her workload was increasing. HD still never left her mind.

“I couldn't handle the not knowing if I had HD so I decided to go get tested,” Katherine explains. “I went to the neurologist in French Camp, California and requested to be tested and that day for my blood drawn.”

For Katherine, the day of the results were a blur. She was a nervous wreck alongside her parents, sister, and niece. The doctor walked in and told the family she is positive. Once the doctor said that, the doctor left.

“That was all it took for darkness to suffocate me,” said Katherine. “I didn't have genetic counseling to help me with this moment. I fell hard into the drugs not caring about it because I was doomed anyway.”

About a year later, in 2011, she decided to go to school and received a diploma as a medical office specialist. When she graduated, she was clean from drugs.

As time went on, Katherine left a bad relationship and moved in with her best friend and her family as Katherine’s father was getting worse. Katherine was also experiencing symptoms of HD.

“My thoughts became hazy,” said Katherine. “That's the only way I know how to describe it. I had a bad feeling but ignored it. I still had years to worry about it. Because of the relationship I had just left, and I couldn't work because I couldn't think clearly, I was able to get into a program through welfare that got me a wonderful worker.”

Through the program, she was able to go to the University of California- Davis Medical Center. This is one of the 47 HDSA Centers of Excellence that provide an elite team approach to HD care and research. Professionals have extensive experience working with families affected by HD and work together to provide families the best HD care program.

Three months later, Katherine went to her second appointment and was told she is now in stage two of HD. Katherine was then told by her worker through welfare to apply for social security.

Social Security Disability is a federal benefit program designed to provide long-term financial and medical insurance assistance. It is a work-based program that employees pay into the system in order to be eligible.

“I would probably be denied but it was worth a try and they got me housing voucher for low income housing,” said Katherine. “I remember my assessment day… the doctor who did my neurologist exam was surprised when I told him I was at stage two because I was so young and then I told him about my past drug use. He looked at me and said 'that explains it… ‘and the psychiatrist that did the mental health part had a best friend whose mother had HD. I was approved. I was lucky.”

On HDSA Disability Chat, HDSA’s Manager of Disability Programs Allison Bartlett (abartlett@hdsa.org) talks in-depth about what the HD Community should know about Social Security Disability.

To watch HDSA Disability Chat, click here

Allison evaluates Katherine’s situation:

“Katherine is lucky that her disability application process was easy and straightforward because it could have been very different,” Allison explains. “Often, as in the case with Katherine, individuals with HD are given well-meaning advice from members of the community, like a case worker, welfare worker, or social worker, to apply for Social Security disability, but the individual with HD is not prepared for the application process or does not get the help they need to complete the application.

She continues:

“The Social Security disability application is complicated, and, for many individuals, overwhelming,” Allison explains. “Also, many individuals do not provide enough detail or information in their disability application about their HD symptoms and how their symptoms impact them every day. They assume Social Security will gather that information, which is an incorrect assumption. Social Security will request medical records, but it is the individual’s responsibility to inform Social Security of their symptoms and struggles, and make sure Social Security gets the records from the right doctors, which should include a treating neurologist.”

Katherine has a message for the HD Community:

“I am writing this to let my mistakes hopefully educate you. And to urge anyone who may be interested in getting tested for HD to demand a genetic counselor. It is your right; I know I wish I had one. I'm writing this to be an example of what drugs do in an HD brain, causes symptoms to come early because drugs damage the brain cells letting the HD do what it does easier.”

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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 msantamaria@hdsa.org