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By Matthew Santamaria (msantamaria@hdsa.org)

Family is everything in life. For Nicole Gilbert, it is the most important aspect in life. She was born in Aberdeen, Ohio with her sister and two brothers. At a young age, she remembered visiting her grandmother. Nicole was the first granddaughter born into the family and was named after her grandmother. Nicole knew that she was sick but did not know what she had.

“I remember clearly not wanting to go to her house because I thought whatever she had that I may catch,” said Nicole. She also thought that since she has the same name as her that she might be sick like her too. “This was my 8-10 year old self just trying to really figure out what was wrong with her, and how do I not get that.”

Nicole also had four uncles and three aunts. At the time, the family thought that the sickness was just in their family. They come from a small town where they did not have access to special care facilities as they were never referred to one. Because of this, they took the route of hiding it as they never came into contact with anyone who had Huntington’s disease (HD).

“It was something that we all just kept really close,” said Nicole. “It was never really talked about, so unfortunately the older I got, the more anxiety grew within me to know what the disease is. “After a few google searches on HD in your early 20’s, you shut it down pretty quick.”

It 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. At age 39, her mother started showing symptoms of the disease and her brothers shortly after as well. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.

“All three are close to end stage HD,” Nicole explains. “I can still remember them all so healthy and then they just disappeared slowly. They were such and still are strong people. My uncle, Rick, was always big and tall, and I always felt so safe around him. My uncle, Wayne, was the funny one. He always had you laughing about something. He would always come in with a huge grin across his face.”

She continues:

“They are all the biggest hearted people you would ever meet. They would do anything for anyone, if they could. They all just enjoyed life, and lived it fully. Every single one took care of themselves fully and was forced to be taken care of. They had dignity and pride (still do) and would never want to be taken care of by anyone. They wanted to live their lives normally as anyone does.”

Nicole and her siblings knew that they were all at risk. Nicole and her older brother talked about for years getting tested, more so Nicole than her brother. Every time they would visit her mother, it would hurt them even more to see how the disease has affected her. Nicole lives in Burlington, Wisconsin. Her husband is stationed in Wisconsin with the Air Force. Her older brother also lives away from home as he works in Washington, DC for the government.

“Every time we would go back and see our mom it hit us more and more each time,” Nicole explains. “I knew I wanted to be tested, because now I had 4 kids at risk. The only way I could possibly help my kids, is by gaining a ton of knowledge, and being an open book for them. If they have a question, I want to have the answer.”

Last year, she decided to go to a genetic counselor in Milwaukee, Wisconsin. She explained to Nicole more information about the testing. Testing procedures involve sessions with professionals that are knowledgeable about HD and the local services available. For testing, it would take several weeks to receive the results once the genetic test is complete. She also explained the CAG numbers, the risk of testing, and not being tested.

Nicole was seen by a counselor several times until she was ready to know. The night before, she was scared and decided not to go. She was sure that she wanted to know as Nicole was afraid this would affect her life drastically. Then, she went on social media and realized that she was not alone.

“I only knew HD being one way street down a journey that didn’t end well,” said Nicole. “I started searching out for anyone that could give me glimmer of hope. I became desperate to find a different way. People that were LIVING with HD instead of dying with it. I come across people who were sharing their stories and it inspired me to have courage and to have hope.” This encouraged her to make a second appointment as she was ready this time. Nicole mentally prepared herself for a positive or negative result. “Even if I were negative, I would’ve still had siblings at risk, so my HD story wouldn’t have ended there anyways.”

She ended up testing gene positive. “I remember telling my husband a positive result will bring me to my knees, because I have to accept the fact that my kids are now at risk, but even after I crash down, I plan on getting up and doing something about it.”

After the positive result, she wanted to learn more information about HD and went to Northwestern University in Chicago, Illinois with her family. This is one of the 47 Huntington’s Disease Society of America (HDSA) Centers of Excellence facilities in the country. She was amazed by the professionals and left there with hands full of information which included packets for her kids and a list of numbers to contact if she needs someone.

EVERYTHING I would ever need, I had it right in my hands,” Nicole explains. “The biggest thing I walked out of there with was HOPE. I had a sense of hope and safety that I had never felt in my entire life. That sense of hope and strength that my mom didn’t get the chance to feel, or my uncles. I knew that this team of doctors and specialist have my back, they truly do. I felt it.”

A few months later, Nicole and her husband would attend a symposium at Northwestern University. She noticed that one of the speakers was someone she connected with online. Nicole ended up having lunch with her as she showed Nicole that the HD Community brings people together and not apart.

“If I were never at risk for HD, then I would’ve never met her,” said Nicole. “She truly changed my life. She gave me a purpose to move forward with a cause. Since meeting her, I’ve met multiple people who just show me that HD is nothing to run from, as a matter of fact it better run from us.”

This convinced Nicole raise more awareness in her hometown of Aberdeen. She noticed that the closest HDSA Team Hope Walk is 2 hours away. This convinced her to help plan a Team Hope Walk as there has been incredible feedback in her town. She has people reach out to her and tell her that she is not alone. The Team Hope Walk will be taking place on Saturday, May 4th, 2019 at Aberdeen Park from 8AM-12PM.

For more information about the event, click here.

“My goal is to have more awareness and information, even in local doctor’s offices, and police departments,” said Nicole. “I would love for every single doctor to have the information to immediately refer a at risk HD patient, to a HD Excellence Center. I would love for every single person at risk for HD to have the knowledge that they aren’t alone, that there are SO many resources to use. The HDSA provides so much information, and it can truly save your life, mentally and physically. There is no cure for HD, and no one knows when anyone will onset, but staying physically and mentally strong and by seeing the top notch doctors who know exactly what they are dealing with, is a great start.”

As for her family, Nicole does not push the knowledge of HD on her children. She answers any questions they have openly as she wants them to have confidence and to not have anxiety over this disease. “They know there is no cure but they also know there are so many people out there fighting a good fight. I hope that one day they will become leaders in some type of way in the HD community and be able to share their stories. I let them know about all the resources there are for them, that I was never aware of.”

Nicole is giving strength to those around her which includes her older brother. According to her older brother, Nicole and her strength has made it not look that bad. She wants to do this for her community and show others that they are not alone in this. Her children are the big reason for her strength.

“My kids have been my ultimate strength in all of this,” said Nicole. “They are the reason I am doing every single thing I am doing. I want change for them, and the only way that can happen is through me. I am their mom, and they expect no less than that. If it’s me going to gym to stay physically healthy, or planning a walk to create awareness. It all matters. It matters to them.”

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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 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