At the Bedside: Parents of daughters with rare Juvenile-onset Huntington’s disease find UTHealth Houston Center of Excellence for care and support

In 2020, when she was 4 years old, Khloe Gloria stopped walking.

At the suggestion of their local San Angelo physician, her concerned parents took her to see neurologists in Dallas. Khloe’s mom, Natalie Salazar, already had a sinking feeling she knew what the cause was.

“I think it’s Huntington’s disease,” she told the doctors. “It runs in the family. They were like, ‘Maybe it’s ataxia. There are other options.’ But I knew. As a mom, you have those instincts.”

Salazar was right. An MRI of Khloe’s brain revealed the hallmarks of Huntington’s disease, a rare neurological disease that affects 4 to 10 people out of 100,000. Even rarer is the juvenile onset form of the disease, accounting for up to 9% of all cases, and even rarer is childhood onset, which Khloe had. There are thought to be about 41,000 people living with the disease in the U.S. and about 200,000 who are at risk of getting it.

Huntington’s disease is an autosomal dominant neurodegenerative disorder, meaning that a person with the genetic disorder has a 50% chance of passing it to their child. The affected gene is called the huntingtin gene, which produces a protein critical for the development and health of nerve cells in the brain.

A mutated gene will produce repeats of certain genetic sequences, known as CAG. A normal CAG repeat length is between 10 and 26. In the case of the Huntingtin gene, if the repeats are over 40, it means the person will develop symptoms at some point in their life, with the usual onset in adults between ages 30 and 50. If the repeats are over 55, it is likely the person will develop Juvenile-onset Huntington’s disease and experience symptoms before age 20.

If the repeats are higher than 80, the person will develop the extremely rare childhood Huntington’s disease. The repeats in Khloe’s Huntingtin gene, and those of her younger sister Ariahella “Ari” Gloria, number are in the hundreds. There are fewer than 200 children who have the disease, according to National Institutes of Health research. Because there is no national registry, the exact figure is difficult to determine.

With Khloe’s diagnosis confirmed, her mother dove into researching it. Natalie was aware of a history of Huntington’s disease in the family.

“After I got pregnant, we found out kids could get it but it was so rare. Hector didn’t want to get tested and he wasn’t showing symptoms. We were just very hopeful at that time,” Salazar said.

Through her research, Salazar found the Help 4 HD community and a group of mothers of children with Juvenile Huntington’s disease who have been a lifeline of support for her. They immediately put her in touch with Erin Furr Stimming, MD, professor of neurology and founder and director of the Huntington’s Disease Society of America (HDSA) Center of Excellence at McGovern Medical School at UTHealth Houston. Furr Stimming is a Memorial Hermann Endowed Chair at McGovern Medical School .

“We went to Dallas two more times to see the physicians there, but it didn’t seem right to not go to a center of excellence,” Salazar said. “I was put in direct contact with Dr. Furr Stimming and she said she was more than willing to take on Khloe. We live six and half hours away, but it was good to know we were working with a doctor who has treated it firsthand.” Furr Stimming and neurogenetic disorders specialist Sam Nicholas Russo, MD, worked together to care of Khloe.

The HDSA Center of Excellence at UTHealth Houston includes a multidisciplinary team of neurologists, neuropsychologists, genetic counselors, social workers, physical therapists, and psychiatrists. In addition, the center is able to connect families with a team of pediatric subspecialists like gastroenterologists, surgeons, and neurosurgeons.

“It is truly a privilege to care for our patients and families affected by Huntington’s disease. Their courage and resilience are humbling and inspirational,” Furr Stimming said.

Co-chairs of the center are Shivika Chandra, MD, associate professor in the Department of Neurology at McGovern Medical School, and Nivedita Thakur, MD, associate professor in the Department of Pediatrics at McGovern Medical School.

There is no cure for Huntington’s disease. Treatment is focused on the symptoms of the disease, which for children usually manifests as epilepsy, parkinsonism (rigidity, involuntary muscle contractions, slowness of movement), behavioral problems, cognitive decline, and developmental delay.

About the same time that Khloe began showing symptoms, Salazar discovered she was pregnant with Ari, their second child. Ari was born in 2020, and when she was 2, she wasn’t talking. Her mother set her up with speech therapy, but Khloe was in the middle of severe symptoms of the disease and therapy was deferred.

Sadly, Khloe died April 17, 2023, of complications of Huntington’s disease. She was 7 years old.

Almost immediately, her mother said, Ari began developing more obvious symptoms with continued speech issues and difficulty with balance, as well as large body twitches while she was sleeping. She was diagnosed with Juvenile-onset Huntington’s disease in January 2024.

“I am not sure I have been able to mourn Khloe because I switched to full-on go mode with Ari,” Salazar said.

Ari, who turns 5 April 14, is treated for epilepsy and her movement difficulties due to dystonia (involuntary muscle contractions) and tremor. Sometimes she can walk, and sometimes Salazar has to carry her. She has a gastrointestinal tube for taking medications, but she is mostly still eating on her own with close monitoring from her parents to make sure she doesn’t choke.

Things can change rapidly. As recently as March, Ari could hold her sippy cup with ease. But out of the blue, she started having trouble getting it to her mouth.

“It takes her whole body to get the cup to her mouth, but she doesn’t want help. She wants to do it herself,” Salazar said. “When she loses the ability to do something, it’s pretty much gone. That is why the physical and occupational therapy are so important. We are trying to retain muscle.”

Ari’s care at UTHealth Houston is overseen by Thakur, who is co-director of the Pediatric Movement Disorders Center and the Center for the Treatment of Pediatric Neurodegenerative Disease at McGovern Medical School.  Thakur is one of the few pediatric neurologists in the country who are fellowship-trained in pediatric movement disorders.

Pediatric neurology social worker, Patricia Arnold, MSW, LCSW, works closely with Ari’s family. She sees the team four times a year in person and has a telemedicine appointment every month.

Neurologists on Ari’s team also include pediatric epilepsy specialist Shelley S. Varnado, MD, assistant professor in the Department of Pediatrics. Other physicians are pediatric psychiatrist Jun Yin, MD, PhD, assistant professor in the Louis A. Faillace, MD, Department of Psychiatry and Behavioral Sciences at McGovern Medical School; J. Marc Rhoads, MD, professor and director of the Division of Gastroenterology, Hepatology, and Nutrition in the Department of Pediatrics; and Charles S. Cox, Jr., MD, professor in the Department of Pediatric Surgery and the George and Cynthia Mitchell Distinguished Chair in Neurosciences, Glassell Family Distinguished Chair, and James H. “Red” Duke, Jr., MD, Distinguished Professor in Surgery at McGovern Medical School. For Ari’s epilepsy, she is also seen by Manish Shah, MD, associate professor in the Department of Pediatric Surgery and John P. and Kathrine G. McGovern Distinguished Chair at the medical school.

Ari is part of a study called the Longitudinal Assessment of Brain Structure and Function in Juvenile-onset Huntington’s Disease. The goals of the observational study are to see if brain development is different in the juvenile form of the disease and whether reliable biomarkers for the disease can be found in brain structure and function.

“My hope is that we can better understand this condition. Because it’s so rare, it’s important to know what the natural history is,” Thakur said.

In a world where she never knows what the next day will hold, Salazar finds there are few things that she can plan anymore.

“Everything is out of my control. It’s sad, but preplanning ahead things like funeral arrangements – those are the things I can control. And making sure that Ari has the most fun and every experience in life while I have her,” Salazar said.

During their last visit, they took Ari to the zoo, which she loved. She also enjoys playing dress up and going to the beach.

Thakur calls Salazar “a warrior” for the disease.

“You can see the fire in her. She wants to spread the word about it,” Thakur said. “There has been a shift to thinking of treatment for all stages of Huntington’s disease, including the juvenile form. These parents are advocating for clinical trials for their children. Her mom knows that it might not help Ari, but it can help the next child.”

Salazar said she has been pushing for more clinical trials, which has been an uphill battle.

“Pharmaceutical companies are reluctant because the disease is rare and something could go wrong. But what could be worse than what is happening to our children? We’re going to lose our kids anyway,” she said. “If we can give them a shot at a second chance at life, then we’ve done all we could. I know I could lose my second daughter at any moment. I don’t have any time left to wait.”

She is passionate about fighting against the stigma of the disease and said that in both her and her fiancé’s families, everything has always been “hush, hush” about it.

“Even if you are diagnosed with the disease, there is still a life to live,” she said. “My No. 1 comfort is my faith in God. We are in survival mode, and just seeing how strong my daughters have been has kept me going. They have no choice but to keep going. I have to keep going for them.”

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