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By Matthew Santamaria (msantamaria@hdsa.org)

Dr. Kelsey Stuttgen Finn does not have Huntington’s disease (HD) in her family, but is doing her part to help HD families.

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 during their prime working years and has no cure. The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgement, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.

Kelsey earned her PhD in Human Genetics at John Hopkins School of Medicine and completed her postdoctoral training in Bioethics at Mayo Clinic. 

John Hopkins School of Medicine is one of the 54 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. 
 

“I was first introduced to the HD community when I was a graduate student, and I did a research rotation at the Berman Institute of Bioethics,” said Kelsey. “My mentor there was working on a project to learn about the long-term experiences of those who were the first to receive pre symptomatic testing for HD back in the 1980’s and 1990’s at Johns Hopkins School of Medicine.”

According to Kelsey, when the test first came out, only a linkage test was available. This meant that order to have pre symptomatic testing for HD, individuals had to ask family members for blood samples.

“This was really challenging for a lot of people, since sometimes family members did not want to talk about HD or were not willing to give a blood sample, and often caused tensions on family relationships,” Kelsey explains. “Sometimes individuals were not able to get linkage testing because family members refused to provide blood samples. Luckily, a few years later a direct test for HD came out, which meant that individuals no longer had to obtain blood samples from family members to receive genetic testing.”

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.

As Kelsey would talk to more HD families, she felt there was a disconnect with how the disease is communicated with children and the few resources to support parents to talking to their children about HD.

HDSA's Here’s The Deal tackles important topics to help you navigate through your journey with Huntington's disease (HD). In this episode, Jennifer Simpson sat down with Kelsey to discuss talking to kids about HD. Here's The Deal is hosted by Jennifer Simpson, LCSW, HDSA's Senior Manager of Advocacy & Youth Programs.


“Lucky, thanks to organizations like HDSA, there are great resources and support for HD,” said Kelsey. “However, from the perspective of the academic literature, there is little data on whether, when, and how to communicate with kids about genetic risk information, such as HD.”  

HDSA’s National Youth Alliance (NYA) is a great resource for our youth. 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.

According to Kelsey, her focus has been on whether, when, and how to communicate with kids about HD and other genetic conditions. To address these questions, Kelsey has spoken to many parents and children about their experiences. This includes communicating about HD, how they felt about the disease, advice for other families, and more.

“I learned so much in these interviews, and this work was ultimately published in the academic literature,” Kelsey explains. “However, knowing that so many parents struggle with wondering if they should talk to their kids about HD, when they should start talking to their kids about HD, and what they should say and so many parents are wanted more resources to support them.”  

Inspired by this, she wrote a book called Grandma Has Huntington’s Disease And It’s Okay. The book is about a grandmother with HD and the story is told from the perspective of her grandson, Leo. It is intended to serve as a way to communicate with children about HD and help children understand what it means for their family member to be affected by HD.

There is also a section for parents on tips for talking with kids about HD and peer-reviewed research. For Kelsey, she wants the book to serve as a launching pad for conversations between parents and children.

“My goal is that this book, and my research more broadly, makes some small difference in the HD community, Kelsey explains. “I feel so lucky to have found myself working with HD as a graduate student and think of it as one of the best things that’s happened to me both personally and professionally. It is also meant to serve as a reminder that there can still be so much love, even in the presence of this horrible disease. The book is meant to be read and re-read, grow with the child, and foster healthy coping mechanisms.”
 

Kelsey has found it thankful to have learned so much from the HD Community with the more stories that she hears.

“I think the HD community has a courage and strength beyond what I thought was humanly possible, and it’s a joy to work with such an amazing group of people,” said Kelsey.”

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Huntington’s disease (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 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. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD 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.  

HDSA was founded in 1967 by Marjorie Guthrie, the wife of legendary folk singer Woody Guthrie. Woody died from HD complications when he was only 55 years old, but the Guthrie family legacy lives on at HDSA to this day. 

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