By Emily Leclerc | Waisman Science Writer
When Heather Huismann was in middle school she called the police on her teacher. “He was not teaching me very well,” Heather says. So, she did what her parents taught her to do when there was a problem – stand up for herself. “She called 911 to get her teacher fired,” Larry Huismann, Heather’s father, recalls fondly. Heather has no hesitation when it comes to speaking out and getting things done – a very take-the-bull-by-the-horns approach, as she says. Her fiery spirit and fierce determination have served her well in the decades since middle school, especially when it comes to handling the challenges that can come with living with Down syndrome. That determination and her family’s unwavering support are part of why Heather has been participating in research at the Waisman Center for more than four decades.
“The Huismanns are a family that have been with us for a very long time. It has been so meaningful to get to see Heather and her family over the years, to hear their stories, and hear about their successes and challenges over time,” Sigan Hartley, PhD, Waisman investigator and 100 Women Distinguished Chair in Human Ecology says. “The importance of having families stay with us for long periods of time is invaluable to us and to the science. The Huismanns have been a delight to work with.”
Down syndrome (DS) or trisomy 21 is a genetic disorder where an individual is born with an extra 21st chromosome. It is the most common chromosomal condition with an estimated one in every 775 children born in the United States receiving a diagnosis, according to the Centers for Disease Control and Prevention. Down syndrome is typically accompanied by distinct facial features, developmental delays, intellectual disability, and is associated with increased risk of several different health conditions such as heart disease and Alzheimer’s disease. Even with these commonalities, every person with Down syndrome is unique and their experiences vary greatly.
After Heather was born, her mother Pam quickly started looking around for resources and supports for her daughter. As a mammographer and CT tech in a clinic in Sun Prairie, WI, Pam already had a working knowledge of Down syndrome and potential support options in Madison. She knew she wanted to enroll her daughter in research opportunities in order to learn more about her and the Down syndrome community at large. “I don’t know how she came up with the Waisman Center but I am glad she did,” Larry says. “It has been a long relationship and it has been just wonderful.”
Heather has been participating in research at the Waisman Center since she was 3 years old. Her first study was with former Waisman investigator Len Abbeduto, PhD, currently a psychologist and professor of psychiatry and behavioral sciences at the University of California – Davis, and retired co-director of the MIND Institute Intellectual and Developmental Disabilities Research Center. That first study was 42 years ago. In her almost four and a half decades being involved at the Waisman Center, Heather has participated in many different studies for many different Waisman investigators all with the intent of broadening the collective understanding of Down syndrome.
When asked why she has remained so dedicated to being a part of research, Heather credits her parents’ loving influence with continuing to push her to take part in something bigger than herself. “It was mainly because of the love and the support and the guidance I got from my mom and dad. That and I am just trying to show people who I really am,” Heather says. Pam and Larry have stood solidly behind Heather ever since she was little and strove to give her every opportunity possible.
At the moment, Heather is participating in the Alzheimer’s Biomarkers Consortium – Down Syndrome (ABC-DS) study co-led by Waisman investigators Brad Christian, PhD, professor of medical physics and psychiatry and Sigan Hartley. The ABC-DS study is a large longitudinal study focused on trying to identify early biomarkers of Alzheimer’s disease in order to help inform clinical trials and improve the quality of life for individuals with Down syndrome and the general population. People with Down syndrome are at high risk for an Alzheimer’s diagnosis with an estimated 90% of individuals developing clinical symptoms of the disease in their lifetime. A large part of why Heather decided to join this study is she lost her mother several years ago to Alzheimer’s disease.
Sadly, Pam Huismann passed away in 2017 but Heather knows that if she were still here that she wouldn’t want Heather to stop her involvement with Waisman. “If my mom were here right now, she would have told me to continue with the influence and impact that I’ve had with the Waisman Center,” Heather says. “My mom was the most influential person in my life.” So, she continues to volunteer her time to help Waisman’s researchers expand their understanding of Down syndrome.
Larry has also stepped in to be Heather’s research partner after his wife’s passing, accompanying her to many of her research visits and supporting her as needed. “Pam left some large shoes to fill but I am doing my best,” Larry says. He is a steadfast advocate for Heather and always ready with a quick joke to entertain the research teams. It is abundantly clear that he not only deeply loves his daughter but is also incredibly proud of the woman she has become and the influence she has had on those around her. The two of them make an excellent team capable of just about anything.
“Larry is a very supportive father and has beautifully filled the role of Heather’s study partner after his wife passed away. Both are a joy to work with on our testing days,” Renee Makuch, study coordinator for ABC-DS, says. “Larry always arrives with a few new jokes which keeps us on our toes and leaves us all with smiles. Partnerships with families like theirs are imperative as we strive to improve the quality of life for individuals with Down syndrome as they age. Our research group is tremendously thankful for their continued support and contribution to our study.”
Both Brad and Sigan always look forward to Heather and Larry coming in for research visits. Not just because they are a joy to be around but also because of their appreciation for the research they are participating in. They are both deeply grateful to Heather and her family for their dedication over the years.
“The contributions made by Heather and her family in advancing Down syndrome research at the Waisman Center have been extraordinary! Heather is very busy with family, work, and social activities but she is always incredibly giving with her time to participate in our research studies,” Brad says. “Remarkable advances are being made in understanding the changes in the brain related to Alzheimer’s disease in people with Down syndrome and our study is helping to chart the course for future prevention and treatment trials. These advances would not be possible without the steadfast commitment of our families to stick with us over the years and Heather is a shining example of the amazing people that work with us.”
Participating in research has also given Heather and Larry so much. It hasn’t just been the researcher’s that have benefited. Being a part of the different studies over the years and interacting with experts in the field have given the Huismann’s a better understanding of resources and tips, tricks, and tools for working through challenges. “One of the things Waisman has really done for us as a family is allowed us to recognize opportunities. If that person can do that, why can’t we?” Larry says. “And if we set the bar high then there’s no reason this other person can’t come up and enjoy accomplishing those opportunities as well.”
Research into conditions like Down syndrome is critical for improving not only our understanding of the condition as a whole but also treatments, therapy, and their overall quality
of life. And without people and families like Heather, Larry, and Pam, this type of research would not be possible. “They’ve gone through many different years of a person’s life, from infants to adults. Their experiences can help us through something and maybe they will learn from our experiences,” Larry says. “It is a true pay it forward thing that I feel is incredibly important.” With her dad and and her two sisters, Missy and Erin, as her advocates, Heather continues to volunteer her time to help the Waisman Center advance knowledge of Down syndrome. “Everything that my mom and dad did for me,” Heather says. “I still have that in me. And I want to be there at the Waisman Center.”
Alzheimer Biomarkers Consortium – Down Syndrome (ABC-DS)
The Alzheimer Biomarkers Consortium-Down Syndrome (ABC-DS) is a longitudinal study funded by the National Institute on Aging (NIA), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institutes of Health (NIH) INCLUDE (INvestigation of Cooccurring conditions across the Lifespan to Understand Down syndromE) project.
The goal of ABC-DS is to follow a cohort of adults with Down syndrome over time to identify early biomarkers that may herald the onset of Alzheimer’s disease. The investigators hope that these biomarkers can be useful to inform clinical trials and improve the quality of life in people with Down syndrome and for the general population. The Waisman Center is part of this multi-site study across the United States and at University of Cambridge in England.