Three generations of Jon Huffman’s family have suffered Huntington’s disease – a rare, inherited, ultimately fatal disease that causes the progressive breakdown of nerve cells in the brain and is best known for the associated involuntary movements, as well as cognitive and psychiatric symptoms.

因此，这并不令他36岁的妻子乔恩（Jon）或帕特里夏·霍夫曼（Patricia Huffman）特别惊讶，当时乔恩（Jon）在2007年左右开始表现出神经退行性疾病的症状。

“When Jon was driving, he’d have a heavy foot that would brake often,” Patricia said. “He would also lose control of his hands and become irritable.”

However, it wasn’t until the couple’s two college-aged sons started developing romantic relationships that Jon and Patricia, who had known about Jon’s family history with Huntington’s disease since they started dating in college, grew more concerned about younger generations inheriting the disease and decided to get Jon tested. In 2014, Jon was officially diagnosed with Huntington’s disease.

As retired pharmacists, the Huffmans were curious about recent scientific advancements in the field, and Jon signed up for a clinical trial at one local institution, testing the effectiveness of a drug in improving Huntington’s disease symptoms. Ultimately, the trial proved unsuccessful, but that didn’t stop Jon from wanting to participate in others.

“I’ve never feared testing,” Jon said. “It feels like you make a difference.”

He made his way toUTHealth Houston2018年，参加了本地领导的多项试验Erin Furr Stimming，医学博士，美国亨廷顿疾病协会（HDSA）卓越中心休斯顿神经科学卓越中心，以及麦戈文医学院的神经病学教授，休斯顿麦戈文医学院。

“We are proud to have a HDSA Level 1 Center of Excellence designation, which means we provide multidisciplinary Huntington’s disease-specific care not only in Houston but in other Texas cities such as Lubbock, San Antonio, Austin, and Waco, in collaboration with out partnering sites. Our goal is to expand Huntington’s disease care and awareness throughout the state of Texas,” Furr Stimming said. “We are honored to be a site for multiple clinical trials as a result of our robust Huntington’s disease clinic. While research is absolutely independent of clinical care, it’s important that our patients and their families have the opportunity to participate in research, if and when they express interest and qualify.”

Over the past few years, Jon enrolled in multiple studies at the center, including Enroll-HD – a worldwide observational study that includes more than 20,000 participants in four continents. Jon’s information was entered into a dataset that is being used to analyze various outcomes in individuals living with or at risk for Huntington’s disease.

乔恩还参加了一项观察性研究，评估亨廷顿氏病患者的嗅觉功能或嗅觉。帕特里夏甚至加入了对照组进行研究。

“With our scientific backgrounds, we understand that science is discovery, and scientists are still learning so much information about this disease,” Patricia said. “There’s no cure yet, but we hope there’s enough discovery going on that there will be something in the future.”

到目前为止，这项研究已经beplay苹果手机能用吗导致了几次突破。例如，在回顾性地分析注册HD数据集时，FURR刺激和她在休斯顿Uthealth的团队确定实际上在亨廷顿氏病中存在性别差异，女性的症状似乎比男性差。此外，从注册HD数据中，他们发表了有关疾病中精神病，抑郁和自杀性的发病率。

Furr Stimming said discoveries like these will ultimately help health care providers offer better treatment options for patients with the disease while parallel, interventional studies are performed to test various therapeutic strategies in an attempt to slow or halt disease progression.

“乔恩（Jon）和帕特里夏（Patricia）是一对鼓舞人心的夫妻，”弗尔兴奋地说。“它们是我们在亨廷顿氏病家庭中看到的完美典范，因为它们具有令人难以置信的韧性，并且尽一切可能尽其所能。与他们以及我们的其他亨廷顿病人及其家人合作是一种荣幸。”

这对夫妇（现已成立的儿子都对该疾病进行了阴性，因此不会将其传递给孩子 - 与地方，地区和国家亨廷顿疾病社区深深相关。他们倡导了《高清均等法》，该法将放弃两年的医疗保险等待期，并放弃该疾病患者的五个月福利等待期。

Jon and Patricia also stay active, taking dance lessons at a dance studio in Katy. They recently competed in a regional dance event, dedicating their performance to Marjorie Guthrie, the late wife of music legend Woody Guthrie, who was instrumental in raising awareness for Huntington’s disease.

When he isn’t dancing with his wife, Jon likes to walk his dog around the neighborhood every day.

“I have slurred speech, so when I walk my dog, people will ask if I’m OK. Yes, I am OK,” Jon said. “You should never fear Huntington’s disease.”

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