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By Matthew Santamaria (msantamaria@hdsa.org)

Jennifer Santiago was living a normal life in Lawton, Oklahoma.

“One of the fondest memories of my dad is the times he would take my sister and me to the Wichita Wildlife Refuge,” said Jennifer. “Living in Lawton, this great national park is right “outside our back yard”. There, you can climb up Mount Scott, fish, camp or venture out onto many hiking trails. There is so much to explore.”

By the time she was ten-years-old, her father and mother divorced. Her brother was only sixteen-years-old at the time.

“Growing up, I can remember our dad would become very violent, mentally, and sometimes, physically abusive, especially to my brother; however, in an instant he could be loving and caring,” Jennifer explains. “Our mom became mentally tired, and decided their marriage was no longer compatible and chose to split up.”

Jennifer and her sister would then visit her father as his behavior worsened.

“He would threaten to kill himself or our mom,” said Jennifer. “These things would frighten us and cause us to go back to our mom and tell, creating protective orders against him. Multiple times he would violate the orders, and he would go to jail. As an adult, thinking back, I wish we knew then what we know now, so going to jail could have been prevented.”

In 2002, her father was released from jail and his neighbor suggested him to get tested for Huntington’s disease (HD). 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.

After graduating high school, Jennifer found out her father tested positive for the gene that causes HD.

The disease may have explained her father’s behavior when Jennifer was growing up.

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, unsteady gait, slurred speech, difficulty in swallowing, and significant weight loss.

After learning about his father, Jennifer’s brother, twenty-four-years-old at the time, wanted to get tested for the disease. During this time, he was in the Air Force.

Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease. The decision to get genetically tested is difficult for people at-risk. 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.

Her brother tested positive for the gene that causes HD.

“HD has always been and will always be connected to me and my family,” said Jennifer. “I would not wish this for my worst enemies.”

As for Jennifer’s father, he moved back to Pennsylvania where his family is from. He was in and out of state hospitals and different homes. On August 11, 2007, he passed away due to complications from HD. He was only fifty-seven-years-old.

“It is bittersweet that my dad was the one in our family to educate us on this horrendous disease,” said Jennifer.

In 2017, Jennifer has a husband and a family of her own. She and her husband agreed that it was time for her to find out about her future and HD.

“I will never forget Valentine’s Day that year when I received the call form my doctor’s office scheduling me to come in later that afternoon to discuss my test results,” Jennifer explains. “That particular day, I learned my children were safe since I was gene negative.”

The happiness wouldn’t last very long. That next week, she received a phone call that her twin sister had a stroke at the age of thirty-two-year-old due to diabetes.

“After talking to the neurologist the day of the stroke and telling him our concerns and family history, he placed an order for my sister to be tested for HD,” Jennifer explains. “After the long few weeks of waiting, she received the call from her doctor. Sure enough, my sister had the HD gene and was symptomatic.”

Her sister has a sixteen-year-old son and eight-year-old daughter at-risk.

“My sister is currently battling the loss of her driver’s license taking away her independence,” said Jennifer. “I would say she is in the middle stages of the disease and everyday its heart breaking for me to see my best friend, my twin sister, struggle with HD.”

She continues:

“For me, I watch my sister go through her daily life with a large amount of impairment,” Jennifer explains. “I wonder what life is going to be like when the days come and she will no longer be here to celebrate birthdays together. I struggle with the fact that she may not see her children grow and experience life, as I will be able to with my own children. I wonder how the days will be when her daughter will need help with womanhood. It also is in the back of my mind what will happen to her husband and kids when her end is near.”

Jennifer has been battling with survivor’s guilt as her brother and sister are currently battling HD. Jennifer has to watch the symptoms progress as it did to her father.

“My number one biggest struggle is the unfairness that she ended up with diabetes and HD for the majority of her life,” said Jennifer. “She has had to struggle with some sort of cruel disease. Also, the fact that my brother inherited the gene is so unfair. One day soon, I will watch the symptoms unfold in my brother and the nightmare will continue on.”

Jennifer has a message for the HD Community:

“As hard as it is, and easier said than done, I try to take one day at a time and cherish the time left with my sister. I will be their advocate. Together, we will fight this disease because Family is Everything!”

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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