{"id":89566,"date":"2025-07-24T20:51:13","date_gmt":"2025-07-24T20:51:13","guid":{"rendered":"https:\/\/www.europesays.com\/us\/89566\/"},"modified":"2025-07-24T20:51:13","modified_gmt":"2025-07-24T20:51:13","slug":"siblings-diagnosed-with-huntingtons-disease","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/89566\/","title":{"rendered":"Siblings diagnosed with Huntington’s disease"},"content":{"rendered":"\n

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.<\/p>\n

\u201cIt\u2019s an early morning and a long day, but we do it for Dr. Stimming,\u201d said their mother, Cathy Murphy.<\/p>\n

She found Erin Furr Stimming, MD,<\/strong><\/a> a movement disorders neurologist with <\/a>UTHealth Houston, a decade ago when her son Cory was diagnosed with Huntington\u2019s disease (HD) at 21 years old. When her daughter Kelsea was diagnosed several years later, she joined the family road trips.<\/p>\n

\u201cWhen Kelsea met Dr. Stimming, she relaxed,\u201d said Cathy. \u201cThat was the first time I saw my daughter open up about her disease.\u201d<\/p>\n

\"ErinErin Furr Stimming, MD, with Kelsea Turnbull during a recent appointment following her Huntington\u2019s disease diagnosis. (Photo by Brad Driver, UT Physicians) Huntington\u2019s disease<\/strong> <\/p>\n

For many, like Kelsea, opening up about HD can be difficult.<\/p>\n

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.<\/p>\n

Considered rare in the U.S., approximately 41,000 Americans are living with HD today.<\/p>\n

Historical records of the disease go back to the 1870s, but the gene mutation that causes HD was a relatively recent discovery in 1993.<\/p>\n

Risk factors<\/strong> <\/p>\n

HD is inherited in an autosomal dominant fashion, meaning each child of an affected parent has a 50% chance of inheriting the mutation.<\/p>\n

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.<\/p>\n

In the U.S., it\u2019s estimated that more than 200,000 people are at risk for HD.<\/p>\n

Diagnosis<\/strong> <\/p>\n

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.<\/p>\n

\"Erin<\/a>Erin Furr Stimming, MD <\/p>\n

\u201cThis is for individuals who know they are at risk, and are not showing symptoms,\u201d 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. \u201cWe follow the guidelines set by the Huntington\u2019s 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.\u201d<\/p>\n

\u201cI was crying in the office when he found out,\u201d Cathy recalled through tears. \u201cBut Cory\u2019s only concern was for his sister. He told the doctor, \u2018All I want is for the disease to skip my sister. I\u2019ll take the disease just as long as my sister doesn\u2019t have it.\u2019\u201d<\/p>\n

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.<\/p>\n

\u201cThe more common testing is confirmatory genetic testing,\u201d said Furr Stimming. \u201cThis 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.\u201d<\/p>\n

Symptoms<\/strong> <\/p>\n

Often described as a combination of Parkinson\u2019s disease, Alzheimer\u2019s, and amyotrophic lateral sclerosis (also known as ALS or Lou Gehrig\u2019s disease), symptoms of HD are wide-ranging and impact individuals differently.<\/p>\n

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.<\/p>\n

Psychiatric symptoms include depression, suicidality, irritability, anxiety, and lack of motivation.<\/p>\n

As the disease progresses, patients may not be able to recognize their health decline, which is called anosognosia.<\/p>\n

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.<\/p>\n

HD is a fatal disease, with symptoms often leading to medical complications.<\/p>\n

Disease progression<\/strong> <\/p>\n

A decade after his diagnosis, Cory has maintained his outgoing personality, though symptoms of chorea and cognitive decline are starting to appear.<\/p>\n

\u201cI can tell his speech is harder to understand and his memory is starting to lag,\u201d said Cathy. \u201cIt also takes him longer to process something we tell him.\u201d<\/p>\n

Despite the progression of symptoms, Cory works at a local auto parts warehouse.<\/p>\n

Kelsea\u2019s diagnosis, however, gave her pause about pursuing a career. She attended Angelo State University and earned her bachelor\u2019s degree in education. But HD symptoms caught up after college, and her memory began to lapse.<\/p>\n

\u201cShe was worried about forgetting a lesson plan and not being able to function in the classroom,\u201d said Cathy. \u201cNow she has social anxiety and is more introverted.\u201d<\/p>\n

Cory and Kelsea continue to live and function independently for the most part, leaning into their shared diagnosis as a built-in support system.<\/p>\n

\u201cThe bond between them doesn\u2019t need words, you can just see it,\u201d said Cathy. \u201cWhen one of them is having a bad day, the other knows it\u2019s HD acting up.\u201d<\/p>\n

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. \u00a0<\/p>\n

\u201c<\/strong>We don\u2019t have a guidebook for this disease, we don\u2019t have a timeline,\u201d said Cathy.<\/p>\n

\"ErinErin Furr Stimming, MD, assesses Cory Turnbull\u2019s motor function. Cory has been seeing Furr Stimming for a decade since his diagnosis with Huntington\u2019s disease. (Photo by Brad Driver, UT Physicians) Treatment<\/strong> <\/p>\n

There is no cure for Huntington\u2019s disease and no treatment to slow or stop disease progression, but there are medications and therapies to address most of the symptoms of HD.<\/p>\n

\u201cReally, for both of them, we\u2019re trying to control the movements,\u201d said Cathy.<\/p>\n

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.<\/p>\n

\u201cThere\u2019s exciting research underway and we\u2019re optimistic about the future of disease-modifying therapy in HD,\u201d said Furr Stimming.<\/p>\n

Movement disorders specialty<\/strong> <\/p>\n

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.<\/p>\n

The UTHealth Houston Huntington\u2019s Disease Program is a designated Center of Excellence by the Huntington\u2019s Disease Society of America (HDSA).<\/p>\n

The collaborative approach to each case includes neurologists, psychiatrists, neuropsychologists, genetic counselors, therapists, and more.<\/p>\n

\u201cThey communicate,\u201d said Cathy. \u201cEach specialist knows what\u2019s going on with each patient. When we see a counselor or psychiatrist, they understand HD and the nuances that come with this disease.\u201d<\/p>\n

Compassionate care<\/strong> <\/p>\n

Cathy has made the 12-hour round-trip drive to the HDSA Center of Excellence at UTHealth Houston Neurosciences Neurology \u2013 Texas Medical Center<\/a> 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.<\/p>\n

\u201cDr. Stimming knows Huntington\u2019s disease inside and out,\u201d said Cathy. \u201cThat\u2019s why I drive. That\u2019s why we make the trip to see Dr. Stimming. Cory and Kelsea can tell she truly understands what they\u2019re going through and truly cares.\u201d<\/p>\n

Finding compassionate care is crucial for a disease that will have a lifelong impact on an entire family.<\/p>\n

\u201cIt takes a lot of the burden off,\u201d explained Cathy. \u201cI trust this team. They are upfront, professional, and courteous. I know I\u2019m going to get honest answers and the latest updates.\u201d<\/p>\n

Optimistic for an end to HD<\/strong> <\/p>\n

Despite the prognosis, Cathy\u2019s optimism is steadfast.<\/p>\n

\u201cI know we are in the right place for their long-term care,\u201d said Cathy. \u201cAnd I\u2019m hopeful for the research that is still to come. I feel like there will be a cure at some point.\u201d<\/p>\n

Despite their symptoms, Cory and Kelsea\u2019s 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. \u00a0<\/p>\n

The sibling bond between them is ever strong.<\/p>\n

\u201cHD is a devastating diagnosis for patients and their families,\u201d said Furr Stimming. \u201cBut there are exciting advances in treatment, we are optimistic about the research underway, and we are here to help them navigate this difficult disease.\u201d<\/p>\n

\"ErinCathy 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) <\/p>\n","protected":false},"excerpt":{"rendered":"Cory and Kelsea Turnbull, siblings from San Angelo, Texas, are accustomed to the long drives and road trip…\n","protected":false},"author":3,"featured_media":89567,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,159,67,132,68],"class_list":{"0":"post-89566","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-united-states","11":"tag-unitedstates","12":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/114910192208920406","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/89566","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=89566"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/89566\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/89567"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=89566"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=89566"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=89566"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}