Cory and Kelsea Turnbull, siblings from San Angelo, Texas, are accustomed to the long drives and road trip stops that connect them to their health care team at UTHealth Houston.
“It’s an early morning and a long day, but we do it for Dr. Stimming,” said their mother, Cathy Murphy.
She found Erin Furr Stimming, MD, a movement disorders neurologist with UTHealth Houston, a decade ago when her son Cory was diagnosed with Huntington’s disease (HD) at 21 years old. When her daughter Kelsea was diagnosed several years later, she joined the family road trips.
“When Kelsea met Dr. Stimming, she relaxed,” said Cathy. “That was the first time I saw my daughter open up about her disease.”
Erin Furr Stimming, MD, with Kelsea Turnbull during a recent appointment following her Huntington’s disease diagnosis. (Photo by Brad Driver, UT Physicians) Huntington’s disease
For many, like Kelsea, opening up about HD can be difficult.
A genetic disorder, HD, causes the progressive breakdown of nerve cells in the brain, leading to a triad of symptoms: the decline of motor, cognitive, and psychiatric function.
Considered rare in the U.S., approximately 41,000 Americans are living with HD today.
Historical records of the disease go back to the 1870s, but the gene mutation that causes HD was a relatively recent discovery in 1993.
Risk factors
HD is inherited in an autosomal dominant fashion, meaning each child of an affected parent has a 50% chance of inheriting the mutation.
Most patients begin to experience symptoms in their 30s and 40s, after childbearing years, which contributes to the disease passing from one generation to the next.
In the U.S., it’s estimated that more than 200,000 people are at risk for HD.
Diagnosis
Because HD is inherited, diagnosis begins by looking at family history. When Cory and Kelsea learned about their risk, Cory chose to undergo predictive testing.
Erin Furr Stimming, MD
“This is for individuals who know they are at risk, and are not showing symptoms,” said Furr Stimming, a professor and the Memorial Hermann Chair in the Department of Neurology and assistant dean of admissions and student affairs at McGovern Medical School at UTHealth Houston. “We follow the guidelines set by the Huntington’s Disease Society of America, which include visiting with a genetic counselor, neuropsychologist, social worker, and neurologist to ensure patients are well prepared and well informed, followed by a DNA sample through saliva or blood.”
“I was crying in the office when he found out,” Cathy recalled through tears. “But Cory’s only concern was for his sister. He told the doctor, ‘All I want is for the disease to skip my sister. I’ll take the disease just as long as my sister doesn’t have it.’”
Even as the younger brother, he wanted to protect his older sister. However, each family member faces the same chance of inheritance. When Kelsea began to exhibit symptoms, she underwent testing and was diagnosed with HD at 29.
“The more common testing is confirmatory genetic testing,” said Furr Stimming. “This is done when individuals know they are at risk and display signs and symptoms. We are passionate about ensuring individuals are well informed and as prepared as possible because these results are life-changing and will impact the entire family.”
Symptoms
Often described as a combination of Parkinson’s disease, Alzheimer’s, and amyotrophic lateral sclerosis (also known as ALS or Lou Gehrig’s disease), symptoms of HD are wide-ranging and impact individuals differently.
Chorea, which is involuntary, unpredictable jerky movements of the legs, feet, arms, hands, and face, is the most common motor symptom. Other motor symptoms include impaired coordination, excessive movements, slow movements, small movements, loss of balance, and sudden falls.
Psychiatric symptoms include depression, suicidality, irritability, anxiety, and lack of motivation.
As the disease progresses, patients may not be able to recognize their health decline, which is called anosognosia.
A decline in cognitive function can manifest in many ways, such as reduced attention span, trouble with focus, slowed thought processing, memory issues, and delayed communication.
HD is a fatal disease, with symptoms often leading to medical complications.
Disease progression
A decade after his diagnosis, Cory has maintained his outgoing personality, though symptoms of chorea and cognitive decline are starting to appear.
“I can tell his speech is harder to understand and his memory is starting to lag,” said Cathy. “It also takes him longer to process something we tell him.”
Despite the progression of symptoms, Cory works at a local auto parts warehouse.
Kelsea’s diagnosis, however, gave her pause about pursuing a career. She attended Angelo State University and earned her bachelor’s degree in education. But HD symptoms caught up after college, and her memory began to lapse.
“She was worried about forgetting a lesson plan and not being able to function in the classroom,” said Cathy. “Now she has social anxiety and is more introverted.”
Cory and Kelsea continue to live and function independently for the most part, leaning into their shared diagnosis as a built-in support system.
“The bond between them doesn’t need words, you can just see it,” said Cathy. “When one of them is having a bad day, the other knows it’s HD acting up.”
As it is a rare disease, HD will impact individuals differently. The siblings are proof that even with shared genes, they have experienced different symptoms at different rates.
“We don’t have a guidebook for this disease, we don’t have a timeline,” said Cathy.
Erin Furr Stimming, MD, assesses Cory Turnbull’s motor function. Cory has been seeing Furr Stimming for a decade since his diagnosis with Huntington’s disease. (Photo by Brad Driver, UT Physicians) Treatment
There is no cure for Huntington’s disease and no treatment to slow or stop disease progression, but there are medications and therapies to address most of the symptoms of HD.
“Really, for both of them, we’re trying to control the movements,” said Cathy.
Both Cory and Kelsea take medication. In addition, Cory has received occupational and physical therapy. And Kelsea receives treatment for anxiety from a psychiatrist who specializes in HD.
“There’s exciting research underway and we’re optimistic about the future of disease-modifying therapy in HD,” said Furr Stimming.
Movement disorders specialty
Specializing in diagnosis, treatment, and disease management, Furr Stimming works with a team of expertly trained and certified faculty with McGovern Medical School at UTHealth Houston.
The UTHealth Houston Huntington’s Disease Program is a designated Center of Excellence by the Huntington’s Disease Society of America (HDSA).
The collaborative approach to each case includes neurologists, psychiatrists, neuropsychologists, genetic counselors, therapists, and more.
“They communicate,” said Cathy. “Each specialist knows what’s going on with each patient. When we see a counselor or psychiatrist, they understand HD and the nuances that come with this disease.”
Compassionate care
Cathy has made the 12-hour round-trip drive to the HDSA Center of Excellence at UTHealth Houston Neurosciences Neurology – Texas Medical Center to see Furr Stimming at least once every three months for the past decade because of the deep trust and exquisite care they can expect.
“Dr. Stimming knows Huntington’s disease inside and out,” said Cathy. “That’s why I drive. That’s why we make the trip to see Dr. Stimming. Cory and Kelsea can tell she truly understands what they’re going through and truly cares.”
Finding compassionate care is crucial for a disease that will have a lifelong impact on an entire family.
“It takes a lot of the burden off,” explained Cathy. “I trust this team. They are upfront, professional, and courteous. I know I’m going to get honest answers and the latest updates.”
Optimistic for an end to HD
Despite the prognosis, Cathy’s optimism is steadfast.
“I know we are in the right place for their long-term care,” said Cathy. “And I’m hopeful for the research that is still to come. I feel like there will be a cure at some point.”
Despite their symptoms, Cory and Kelsea’s unique personalities continue to radiate. During a recent visit, Cory, upbeat and outgoing, was nudging his sister as she ran her fingers through her hair, nervous to be the center of attention.
The sibling bond between them is ever strong.
“HD is a devastating diagnosis for patients and their families,” said Furr Stimming. “But there are exciting advances in treatment, we are optimistic about the research underway, and we are here to help them navigate this difficult disease.”
Cathy Murphy (front left) and her children, Kelsea and Cory Turnbull, say the family has found a second home with Erin Furr Stimming, MD, and the HD team at UTHealth Houston. (Photo by Brad Driver, UT Physicians)