By Jennifer G. Goldman, MD, MS
Give light, and the darkness will disappear of itself. — Desiderius Erasmus
On May 18, 2017, a number of South American families living with Huntington’s disease had the chance of a lifetime: to hold an audience with Pope Francis I at the Vatican in Rome. This meeting was a collaborative effort between the medical communities in Venezuela, Colombia, and Argentina and the Huntington’s disease community worldwide to bring visibility to HD, reduce stigma, and offer a global stage for amazing individuals to share their stories and shine light on this debilitating condition.
Huntington’s disease is an inherited disease that causes certain nerve cells in the brain to degenerate or waste away. This degeneration causes uncontrolled movements, loss of mental capacities and emotional disturbance. According to the Huntington’s Disease Society of America, “Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s — simultaneously.”
People are born with the defective gene, but symptoms typically don’t appear until age 30 or older, often in the prime of a person’s life. The disease is passed from parent to child through a mutation in the normal gene, so if one of your parents has Huntington’s disease, you have a 50 percent chance of getting it.
HD is highly prevalent in specific communities across South America where geographic and familial isolation have contributed to disease occurrence up to a thousand times greater than in other places in the world. Physicians in South America have worked for decades mapping the gene in affected families, sometimes evaluating over 10 generations of family members in order to better understand the nature of the disease. This willingness to communicate with the medical community has allowed for some of the most significant discoveries in the history of HD, including the discovery of the HD gene in 1993.* However, HD can be found throughout the world, and it is estimated that there are about 30,000 people living with HD in the United States.
Hope for a cure
Despite over two decades since the discovery of the HD gene, we still hope for a cure. Effective treatments that target all of HD’s symptoms and delay or halt its progression are needed. Improving the quality of life of HD patients and their families remains a great need. HD can interfere with one’s ability to work and support family members, who often also carry an HD diagnosis. Compounded with community stigma, this issue can reinforce a vicious cycle that affects access to quality medical care and resources. The meeting with Pope Francis offered a unique opportunity to offer recognition to individuals living with HD and facilitate strategies to improve their quality of life.
Visibility, recognition and education are imperative in both the diagnosis and treatment of degenerative neurological disease like Huntington’s disease. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease, according to the Huntington’s Disease Society of America. Early detection of HD’s motor, cognitive and behavioral symptoms and a full understanding of the possibility of HD in the family history can ensure timely discussions and potential genetic testing. This can help families be proactive in their decision making and future planning. However, this is often easier said than done. A distant relative who perhaps carried the HD gene may not have been recognized or the condition may not have been discussed. Mild symptoms such as depression, irritability, apathy or cognitive issues may not be fully addressed until motor symptoms clearly appear. HD is a disease inherently shrouded in darkness and misconception.
Here at Rush University Medical Center, we are proud to offer comprehensive care through our Huntington’s Disease Society of America Center of Excellence to the HD communities of Chicago and surrounding areas. As a part of our Movement Disorders program, our Rush HD clinic is dedicated to bringing our patients and their families a sense of clarity and self-efficacy in managing their condition while providing state-of-the-art medical care, research opportunities, and education and support resources.
‘Dispelling stigma is crucial’
In the past year, I became the director of our Rush HDSA Center of Excellence and have been privileged to get to know many HD patients and their families. This transition was a natural one for me as a movement disorders neurologist with a special focus in neuropsychiatry. In fact, I have had a longstanding interest in where movement intersects with cognition and behavior.
Ever since I was a child, I have been fascinated by brain, mind and body relationships. Then as I pursued my training in neurology and movement disorders, I continued to be intrigued as to how changes in the brain, whether cellular degeneration or neurochemical alterations, such as in HD or Parkinson’s disease produce certain physical and psychological symptoms. This has led me to dedicate my clinical and research career to understanding the mechanisms of why patients with movement disorders like HD and PD develop cognitive and behavioral issues using neuroimaging and biomarkers and how we can improve our treatments, preventions, and care models for patients and their families.
As demonstrated by the South American families, dispelling stigma is crucial to novel discovery. Currently there is much exciting research going on in the HD field, ranging from neuroimaging and other biomarker studies to new medications becoming available for HD’s symptoms to potential gene editing, gene silencing, or protein-altering therapies. All this brings hope to the field and community. Our efforts in research, education and dedicated HD support groups, coupled with our multidisciplinary clinical team, is lighting the way for our HD patients and their families.
Jennifer Goldman, MD, MS, is a neurologist with Rush University Medical Center. Zoe Reagan, BS, contributed to this article.