By Ashley Perham
To many people, Eva Angelina Romero's mom appeared to be fine.
She had yet to develop any physical symptoms of Huntington's disease, a genetic disease with no known cure described as ALS, Alzheimer's and Parkinson's mixed together.
But Romero's mom wasn't fine. She was having issues with her memory and would feel like she was hallucinating.
Later, she developed the symptom of chorea, a dancelike movement often seen in Parkinson's patients.
Romero's mother ended up testing positive for the disease, which is passed down genetically. Romero said she believes her grandmother also had the disease but was misdiagnosed as having Parkinson's.
If a parent has the disease, there is a 50/50 chance each of their children will as well.
Romero has four sisters, some of whom have tested positive and some who are at risk.
While the disease itself is not fatal, the symptoms of the disease are what impacts day-to-day life and can cause death.
Last year, Romero's mother passed away, partly due to COVID-19 and partly due to symptoms of Huntington’s disease such as issues with executive thinking, swallowing and breathing.
"Your life is cut short when you get HD (Huntington’s disease), and you know you are positive. Immediately ... it completely changes," Romero said. "It changed for all my sisters."
Romero is using her family's story to raise awareness as the Tennessee chapter president for the Huntington's Disease Society of America. She is hosting a golf tournament Tuesday, Oct. 25 at 8 a.m. at Hermitage Golf Course.
The tournament is raising money for HD research and also raising awareness. Tickets are still available.
"I've tried to do the best I can with what I have and bring awareness and hopefully bring help to people and so many families," Romero said.
In 2013, Dr. Daniel Claassen, a professor of neurology and chief of behavior and cognitive neurology at Vanderbilt University Medical Center, started an HDSA Center of Excellence at Vanderbilt.
There, Claassen's team sees 400-450 patients who come from as far as Texas, Ohio, and Florida. The center is staffed every Friday.
Across the country, there are 57 HDSA Centers of Excellence, but Vanderbilt's focus on both patient care and research is what makes it different, said Lisa Hale, a social worker in the center.
There are no known cures or disease-modifying treatments available for HD. However, the HDSA Center of Excellence provides research opportunities for every person who comes in, from the observational Enroll-HD study that doesn't require testing to studies for new medicines for symptoms or even drugs that could stop the progression.
"That is just as equally important in providing hope and activity and something to do to combat this disease," said Danielle Buchanan, research coordinator in the HDSA Center of Excellence.
Current treatments for the disease involve treating the symptoms, oftentimes making the side effect of one drug work to fight other symptoms, said Dr. Amy Brown, a neurologist who works in the HDSA Center of Excellence.
Hale and the other social workers support HD families from the first phone call all the way through the course of the disease, which can be 10-15 years. They are now caring for second and third generations of HD families.
The social workers find resources in the hospital and the community that can help with finances, education, all kinds of therapy and behavioral health. They also support the caregivers and the extended family through support groups, a Zoom Happy Hour and yearly educational symposiums.
The team tries to provide its patients with as much information as possible to make informed decisions, especially about genetic testing. Unless they are showing symptoms, the HDSA Center of Excellence does not test people younger than 18.
Even after someone turns 18, the HDSA Center of Excellence tries to make sure they understand all the implications of getting tested. Many times, people need to have legal and financial issues cleared up first.
Anonymous testing is available as a diagnosis of HD can affect everything from insurance to job opportunities.
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"Genetic testing is probably the most complex decision that an individual will make coming to this clinic," said Hale.
Hale cited a study that said 70% of HD patients nationwide are still not identified. But the team is hopeful that because of its outreach work, that statistic isn't necessarily true in Tennessee.
The team at the HDSA Center for Excellence goes to schools to explain to high school biology classes that there are ways to have kids without HD if you are a carrier through IVF. They explain to law enforcement and courts that someone may look drunk, but it could be symptoms of HD. They try to reach as many families as possible with HD who can be helped by their care.
They also want to instill hope in their patients, especially the young adults. Even though they may have the expanded gene, they aren't actually diagnosed until the symptoms begin. The team encourages the young adults to go out and live and do the things they truly want to do.
"I want everyone to have the life they want, and I think we try to offer it as best we can," said Brown.
Marle Kathan, 42, from Cadiz, Ky., is a new patient at the HDSA Center of Excellence. She was diagnosed with HD last August.
She described the Center of Excellence team as phenomenal. She didn't really want to be a part of it at first, but they won her over. Now, they call to check up on her, she said.
"I enjoy seeing their faces and hearing the voices," she said.
Kathan's dad was originally diagnosed with Parkinson's but eventually received a HD diagnosis. Last January, he killed himself.
Kathan has a lower CAG repeat number of 43, meaning she will likely have worse symptoms later in her life. Her main symptoms now are related to her mood and memory.
For now, she comes to Vanderbilt every few months for check-ins and research. Kathan prefers natural resources such as essential oils for her own health instead of drugs but is willing to participate in any other study.
She's undergone spinal taps and MRIs in hopes to help HD research.
Kathan always wanted to travel, but with her HD diagnosis, she and her husband, Bob, decided to make it happen now.
They've bought an RV and plan to use their travels to raise awareness about HD.
However, with HD, that plan doesn't come without a cost. The Kathans are foregoing long-term care insurance.
"I'd rather live than to have to pay for the future of what-ifs," Marle said.
The Kathans have a few weekend trips planned and a 10-day, 2,500-mile trip for next summer. Their Facebook page, Bob-B Marle's Journeys, is a place for Marle to share about their adventures and her HD journey.
HD hasn't changed who Marle really is though. She has a passion for helping others and raises money to give shoes to students in her hometown who can't afford them.
Marle has four sons who don't know their HD results yet.
"That's why I'm willing to get poked no matter how many times it takes, or whatever study I have to sign up for just so they can gain the knowledge for my kids' future," she said.
With the resources that Vanderbilt provides, the journey of an HD patient today doesn't have to look like the journey of their parents and grandparents, Hale said.
Dr. Katherine McDonnell works with young adult patients at the HDSA Center of Excellence.
"Your future is not going to look like your parent's future," she tells them.
Those interested in the Vanderbilt HDSA Center of Excellence can call Elizabeth Hewitts at 615-936-1007.
To many people, Eva Angelina Romero's mom appeared to be fine.
She had yet to develop any physical symptoms of Huntington's disease, a genetic disease with no known cure described as ALS, Alzheimer's and Parkinson's mixed together.
But Romero's mom wasn't fine. She was having issues with her memory and would feel like she was hallucinating.
Later, she developed the symptom of chorea, a dancelike movement often seen in Parkinson's patients.
Romero's mother ended up testing positive for the disease, which is passed down genetically. Romero said she believes her grandmother also had the disease but was misdiagnosed as having Parkinson's.
If a parent has the disease, there is a 50/50 chance each of their children will as well.
Romero has four sisters, some of whom have tested positive and some who are at risk.
While the disease itself is not fatal, the symptoms of the disease are what impacts day-to-day life and can cause death.
Last year, Romero's mother passed away, partly due to COVID-19 and partly due to symptoms of Huntington’s disease such as issues with executive thinking, swallowing and breathing.
"Your life is cut short when you get HD (Huntington’s disease), and you know you are positive. Immediately ... it completely changes," Romero said. "It changed for all my sisters."
Romero is using her family's story to raise awareness as the Tennessee chapter president for the Huntington's Disease Society of America. She is hosting a golf tournament Tuesday, Oct. 25 at 8 a.m. at Hermitage Golf Course.
The tournament is raising money for HD research and also raising awareness. Tickets are still available.
"I've tried to do the best I can with what I have and bring awareness and hopefully bring help to people and so many families," Romero said.
In 2013, Dr. Daniel Claassen, a professor of neurology and chief of behavior and cognitive neurology at Vanderbilt University Medical Center, started an HDSA Center of Excellence at Vanderbilt.
There, Claassen's team sees 400-450 patients who come from as far as Texas, Ohio, and Florida. The center is staffed every Friday.
Across the country, there are 57 HDSA Centers of Excellence, but Vanderbilt's focus on both patient care and research is what makes it different, said Lisa Hale, a social worker in the center.
There are no known cures or disease-modifying treatments available for HD. However, the HDSA Center of Excellence provides research opportunities for every person who comes in, from the observational Enroll-HD study that doesn't require testing to studies for new medicines for symptoms or even drugs that could stop the progression.
"That is just as equally important in providing hope and activity and something to do to combat this disease," said Danielle Buchanan, research coordinator in the HDSA Center of Excellence.
Current treatments for the disease involve treating the symptoms, oftentimes making the side effect of one drug work to fight other symptoms, said Dr. Amy Brown, a neurologist who works in the HDSA Center of Excellence.
Hale and the other social workers support HD families from the first phone call all the way through the course of the disease, which can be 10-15 years. They are now caring for second and third generations of HD families.
The social workers find resources in the hospital and the community that can help with finances, education, all kinds of therapy and behavioral health. They also support the caregivers and the extended family through support groups, a Zoom Happy Hour and yearly educational symposiums.
The team tries to provide its patients with as much information as possible to make informed decisions, especially about genetic testing. Unless they are showing symptoms, the HDSA Center of Excellence does not test people younger than 18.
Even after someone turns 18, the HDSA Center of Excellence tries to make sure they understand all the implications of getting tested. Many times, people need to have legal and financial issues cleared up first.
Anonymous testing is available as a diagnosis of HD can affect everything from insurance to job opportunities.
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"Genetic testing is probably the most complex decision that an individual will make coming to this clinic," said Hale.
Hale cited a study that said 70% of HD patients nationwide are still not identified. But the team is hopeful that because of its outreach work, that statistic isn't necessarily true in Tennessee.
The team at the HDSA Center for Excellence goes to schools to explain to high school biology classes that there are ways to have kids without HD if you are a carrier through IVF. They explain to law enforcement and courts that someone may look drunk, but it could be symptoms of HD. They try to reach as many families as possible with HD who can be helped by their care.
They also want to instill hope in their patients, especially the young adults. Even though they may have the expanded gene, they aren't actually diagnosed until the symptoms begin. The team encourages the young adults to go out and live and do the things they truly want to do.
"I want everyone to have the life they want, and I think we try to offer it as best we can," said Brown.
Marle Kathan, 42, from Cadiz, Ky., is a new patient at the HDSA Center of Excellence. She was diagnosed with HD last August.
She described the Center of Excellence team as phenomenal. She didn't really want to be a part of it at first, but they won her over. Now, they call to check up on her, she said.
"I enjoy seeing their faces and hearing the voices," she said.
Kathan's dad was originally diagnosed with Parkinson's but eventually received a HD diagnosis. Last January, he killed himself.
Kathan has a lower CAG repeat number of 43, meaning she will likely have worse symptoms later in her life. Her main symptoms now are related to her mood and memory.
For now, she comes to Vanderbilt every few months for check-ins and research. Kathan prefers natural resources such as essential oils for her own health instead of drugs but is willing to participate in any other study.
She's undergone spinal taps and MRIs in hopes to help HD research.
Kathan always wanted to travel, but with her HD diagnosis, she and her husband, Bob, decided to make it happen now.
They've bought an RV and plan to use their travels to raise awareness about HD.
However, with HD, that plan doesn't come without a cost. The Kathans are foregoing long-term care insurance.
"I'd rather live than to have to pay for the future of what-ifs," Marle said.
The Kathans have a few weekend trips planned and a 10-day, 2,500-mile trip for next summer. Their Facebook page, Bob-B Marle's Journeys, is a place for Marle to share about their adventures and her HD journey.
HD hasn't changed who Marle really is though. She has a passion for helping others and raises money to give shoes to students in her hometown who can't afford them.
Marle has four sons who don't know their HD results yet.
"That's why I'm willing to get poked no matter how many times it takes, or whatever study I have to sign up for just so they can gain the knowledge for my kids' future," she said.
With the resources that Vanderbilt provides, the journey of an HD patient today doesn't have to look like the journey of their parents and grandparents, Hale said.
Dr. Katherine McDonnell works with young adult patients at the HDSA Center of Excellence.
"Your future is not going to look like your parent's future," she tells them.
Those interested in the Vanderbilt HDSA Center of Excellence can call Elizabeth Hewitts at 615-936-1007.