Growing up in Indiana, Kimberly had a very happy childhood with her parents and younger sister. However, the family’s relationship would be tested. Kimberly’s father tested positive for the gene that causes 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.
Her father’s symptoms were more mental than physical. HD is described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgement, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
“My father had mild chorea but was prone to depression, anxiety, temper flares, and was delusional a good part of the time,” said Kimberly. “My mom tirelessly took care of my dad. She was a wonderful caregiver to him.”
As the years went on, Kimberly was married with four children. Three of them are biological and are at risk for HD. She also has two granddaughters. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease.
With her father in the late stages of HD and her mother getting older, Kimberly decided to move her family in her father’s house to help take care of him. Kimberly’s sister also lived close by and assisted as well. In 2011, after placing him in a nursing home, her father passed away due to complications from HD.
For many years, Kimberly was a stay-at-home mom and then worked in administrative work. She always loved working and never had problems learning new skills. Three years ago, she noticed similar symptoms that impacted her father’s life.
“I started noticing I was losing my balance more than normal,” she explains. “I also started noticing at work that I was getting extremely forgetful, and no longer was picking up on things. I also noticed that things I had done for years without thinking were now becoming an issue and my short-term memory seemed to be gone overnight.”
Once the symptoms complied, Kimberly decided to 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.
She then received a phone call explaining that she tested positive for HD.
“I went to a dark place for the next year,” said Kimberly. “I was so depressed that even taking a shower was a feat for me to accomplish. I left my job and I'm now on disability.”
Kimberly would then make an appointment at Indiana University with the same doctor that treated her father. This is one of the 50 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.
“After getting on the right medications for my issues I'm feeling much better,” she explains. “I am now trying to do all I can do stay on top of research (for my kids/grandkids future) and raise awareness as much as possible.”
In these past years, Kimberly and her family has done fundraising in her community to raise awareness for HD. They have participated in HDSA Team Hope Walks, car show, and a local fundraiser at a pizzeria. Once, her daughter-in-law’s family asked Kimberly to come to a cookout in her home in Ohio.
“When I got there it was a surprise party to raise funds for HDSA, I was speechless,” said Kimberly. “Everyone was given a shirt that said In this family nobody fights alone Huntington's disease awareness.”
Kimberly has a message for the HD Community:
“Live each day to the absolute fullest. We may have fewer days than most but if you can just look for the positive each day. Also, make and attack that bucket list. This year, I have a trip to Disney World with my daughter, son-in-law and granddaughters planned and another trip to Maine (a bucket list vacation for me).”
“Lastly, I would say to only keep the people in your life who bring you complete joy. We don't have time to spend time with those who make us feel bad. I am blessed beyond words for my family, friends and extended family. I want to spend as much time as possible with them until I am no longer able.”
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