十大菠菜台子威廉博蒙特医学院成立了一个新的学生组织，旨在帮助未来的医生更好地理解患有罕见疾病的病人意味着什么.  

The National Organization for Rare Disorders – Students for Rare, OUWB Chapter, is the brainchild of M2 Jessica Cummings. 自2024年初成立以来，该组织已经举办了两次小组活动.

其目的是“向医学学生群体传播对罕见病过程的认识，否则他们的医学课程中将不会涵盖这些疾病。.”

“Patients with rare diseases and their families face profound physical, emotional, and financial burdens, 这些负担可能会因许多医疗服务提供者缺乏对罕见疾病的教育而加剧,” the official description states.

“通过促进对罕见疾病病理生理学以及患者体验的理解, “罕见病学生”可以减少患者接受正确诊断和适当护理所需的时间，并可以教会未来的医生如何更好地支持和倡导这一独特的患者群体.”

Cummings said the idea stemmed from her personal experience 反射性交感神经营养不良(RSD)，也被称为复杂局部疼痛综合征(CRPS).

It’s also a rare condition that’s not very well understood. Finding answers was a long, arduous process for Cummings and her partner and fellow M2, Andrew Eibling.

“从第一次出现症状到能够得到诊断需要很长时间，”她说. “And even after you get a diagnosis, a doctor might know what something is called, but have no idea how to treat it, or what it really is. That’s why I wanted to create this group.”

‘It’s my mission’

Students for Rare的第一次会议是在2月份举行的，主要是关于RSD/CRPS的小组讨论.

A second session, held mid-April, also was a panel discussion, and centered on Sanfilippo Syndrome, which is known as mucopolysaccharidoses type III. It’s a rare lysosomal storage disease that causes childhood dementia, progressive neurodegeneration, and early death. 据报道，许多患者多年来都没有得到准确的诊断, despite showing symptoms that clearly point to the condition.

Christin Ulrich was among the panelists who talked about Sanfilippo Syndrome.

Her daughter is fighting the disease.

“Advocating for my daughter, Veda, 和其他患有圣菲利波综合症的孩子已经成为我今天的重要组成部分,” said Ulrich. “我觉得现在我的使命是和所有愿意倾听和了解圣菲利波综合征的人谈谈. 这个特别小组最重要的部分是我可以和新一代的医生讨论这一切.”

During the panel, 乌尔里希分享了一段关于吠陀的视频，以及TikTok上的一个帖子如何最终让她的家人走上了正确诊断的道路. (The video and other details can be found at SavingVeda.com.)

乌尔里希还谈到了圣菲利波综合征的医学症状和体征，以及病人护理和支持的重要性.

“One of the main issues that Sanfilippo families have, other than the fact that our children have a terminal illness, is the lack of support we have,” she said. “Nothing is worse than getting this diagnosis, 询问我们能做些什么，并被告知“带她回家，在你还能爱她的时候爱她”.’”

“I hope that not only did (panel attendees) take away the importance of early, correct diagnosis, but also the importance of support,” Ulrich added.

‘Hope for the future’

这正是学生组织的意义所在，詹姆斯·格罗根博士说.D., professor, Department of Foundational Medical Studies.

He serves as faculty advisor, 并表示，该小组有效地补充了OUWB医学院学生通过学校常规课程学到的东西.

“学生们在OUWB课程的一开始就开始学习罕见疾病,” said Grogan. “他们学习基本的遗传学和一些影响小群体的罕见疾病.”

“他们学习这些疾病的重点是机制，以及它们发生的医学解释,” he added. “在最初几年(医学教育)的早期阶段，很少有人强调病人的体验是什么样的. 这就是为什么这是一个伟大的倡议……帮助学生看到他们在诊所中需要有效的另一面.”

卡明斯说，她自己在RSD/CRPS方面的经历让她认识到这些教训对未来的医生有多重要.

“并不总是需要对每一种特定的罕见疾病进行教育来建立这种理解——只需要认识到患有罕见疾病是真的, 真的很难，病人可能已经经历了很多，只是为了让医生理解他们,” she said.

Looking ahead, 卡明斯说，该学生组织已经在计划明年的活动，并希望有一天该组织所做的工作可以纳入公开商学院的课程.

For now, 格罗根说，他觉得这个新的学生组织“很棒”，并称其为“帮助学生整体把握了解罕见疾病的价值的重要一步”.”

他还赞扬了该学生组织以一种反映OUWB的方式来处理其活动 mission, vision, and values ——尤其是在同情、合作和终身学习方面.

这种方法让像乌尔里希这样的参与者事后感到“感激和非常满足”.

“看到所有即将成为医生的人都来到小组，同时知道他们的时间表已经排满了, gives me a lot of hope for the future,” she said.

“While my daughter might not see a cure, 让他们加入这个小组告诉我，在我的有生之年，圣菲利波综合征将被治愈,” added Ulrich.

“他们花了很多时间来学习，这对我来说真的是难以形容的.”

For more information, contact Andrew Dietderich, marketing writer, OUWB, at [email protected].

To request an interview, visit the OUWB Communications & Marketing webpage.

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.