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By Matthew Santamaria (msantamaria@hdsa.org)

Through thick and thin, twenty-four-year-old Miranda Spencer can always rely on the Huntington’s disease (HD) community. A community that is close to her heart and has helped her make incredible friendships that will last a lifetime.

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 usually during their prime working years and has no cure.

Miranda’s grandmother was one of seven children (second oldest) and was diagnosed with the gene that’s causes HD. Her grandmother’s uncle, Lee, also had the disease but the symptoms were shown at a younger age.

The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, impaired judgement, involuntary movements, slurred speech, and significant weight loss.

Her family struggled with the realization of the disease. When Uncle Lee passed away due to complications from HD, Miranda did not know about him.

As Miranda was focusing on her nursing degree, her mother met someone in Michigan and learned more about HDSA and learned more about HD through the Educational videos. Her mother knew that she and Miranda were at-risk for the disease. 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.

Her grandmother suffered with symptoms in her sixties and Miranda’s mother was in her forties and still did not want to know if she had the disease or not. According to Miranda, her mother did not want to be tested because she had already lived a good life and it would do more harm than good this late in her life. However, Miranda wanted to know because this can affect her future as she wanted to be a nurse.

Miranda relied on her best friend for emotional support but felt that nobody fully understood what she was going through on the inside as she was dealing with possibly having HD.

In 2015, Miranda went to her first HDSA Convention but had mixed feelings about it. At the time, she was incredibly shy and did not leave her mother’s side. Then, she met Amanda Kahley and got Miranda out of her shy shell by having her meet people her age that can relate to what she is going through.

Amanda introduced Miranda to more members of the National Youth Alliance (NYA). For several years, the NYA is a collection of children, teens, and young adults from across the country that motivates young people to get involved in their local HDSA Chapters, Affiliates, and Support Groups.

Before HDSA Convention, Miranda’s mother told her about the NYA but meeting members in person made Miranda more comfortable.

“NYA gives you the feeling that you are not alone and it allows you to talk to people that understand what you are going through,” Miranda explains.

In that same year, Miranda was struggling in college and failed out of her first semester in junior year. Her mother did not understand what was going on with her because she had straight A’s in high school. This led to her mother finally agreeing to get genetically tested as she was worried that her daughter was suffering from the mental symptoms of 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.

Miranda’s mother tested negative as this gave Miranda a clear mind. She was re-accepted and is now a nurse at the University of Pittsburgh Medical Center (UPMC). 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.

She continues to do work for the NYA. Miranda has been on the NYA board and served as the Research Chair. Miranda Spencer is now the Board Chair President of the NYA.

“Miranda is the kind of person who is always ready to step up,” said Jennifer Simpson, Senior Manager of Advocacy and Youth Programs of HDSA. “She stepped into the role of NYA chair, filling a big pair of shoes, and has found a way to make the role her own. Miranda is the kind face that so many look to for guidance, and on top of that she has dedicated her career to caring for others as a nurse, lending her skills in the HDSA Center of Excellence at UPMC in Pittsburgh. Miranda’s generous heart and willing spirit make her not only an asset to the community, but an incredible friend to turn to in times of trouble.”

Miranda has a message for the HD Community:

“When you are ready to share your story, the HD Community will be there for you no matter what.”

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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. 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