A new student organization at 韦德体育app官网威廉博蒙特医学院 aims to help future physicians better understand what it means to be a patient with a rare disease.  

国家罕见疾病组织-罕见学生组织, OUWB章, 是M2杰西卡·卡明斯的创意. Since launching at the beginning of 2024, the group already has hosted two panel events.

The purpose is “to spread awareness of rare disease processes to the medical student body who otherwise would not receive coverage of these conditions in their medical curriculum.”

“患有罕见疾病的患者及其家人面临着深刻的生理问题, emotional, 财政负担, and these burdens can be exacerbated by the lack of education many medical providers receive about rare conditions,官方描述说.

“By fostering understanding of the pathophysiology of rare diseases as well as the patient experience, Students for Rare can reduce the time it takes for patients to receive a 正确的诊断 and appropriate care and can teach future physicians how to better support and advocate for this unique patient population.”

卡明斯说，这个想法源于她 个人经验 with Reflex Sympathetic Dystrophy (RSD), 也被称为复杂局部疼痛综合征(CRPS).

这也是一种罕见的疾病，目前还没有得到很好的理解. 寻找答案是一个漫长的过程, 对于卡明斯和她的搭档M2来说，这是一个艰难的过程, 安德鲁他.

“It was a long time from first having symptoms to being able to get a diagnosis,” she said. “甚至在你得到诊断后, 医生可能知道什么东西叫什么, 但不知道怎么治疗, 或者它到底是什么. 所以我才想成立这个小组.”

“这是我的使命”

Students for Rare’s first session was held in February and featured a panel discussion on RSD/CRPS.

第二次会议, 4月中旬举行, 还有一个小组讨论, 以圣菲利波综合症为中心, 被称为III型粘多糖病. 这是一种罕见的溶酶体积存症会导致儿童痴呆, 先进的神经退化, 过早死亡. It’s reported that many patients go years without receiving an accurate diagnosis, 尽管有明显的症状.

克里斯汀·乌尔里希是讨论圣菲利波综合症的小组成员之一.

她的女儿正在与疾病作斗争.

“为我的女儿辩护, Veda, and other children with Sanfilippo Syndrome has become a very big part of who I am today,乌尔里希说。. “I feel like it's my mission now to talk to anyone and everyone who will listen and learn about Sanfilippo Syndrome. The most important part of this particular panel is that I was getting to discuss all of this with a new generation of doctors.”

在小组讨论期间, Ulrich shared a video about Veda and how it was a TikTok post that ultimately started her family on the path to a proper diagnosis. (视频和其他细节可在 SavingVeda.com.)

Ulrich also talked about medical signs and symptoms of Sanfilippo Syndrome as well as the importance of patient care and support.

“圣菲利波家庭面临的主要问题之一, 除了我们的孩子得了绝症, 是我们缺乏支持吗,” she said. “没有什么比得到这种诊断更糟糕的了, asking what can be done and being told ‘take her home and love her while you can.’”

“我希望(小组参与者)不仅认识到早期的重要性, 正确的诊断, 还有支持的重要性,乌尔里希补充道.

“对未来的希望”

That’s exactly what the student organization is all about, said James Grogan, Ph.D.基础医学研究系教授.

他担任指导教师, and said the group effectively complements what OUWB medical students learn through the school’s regular curriculum.

“Students begin learning about rare diseases at the beginning of the (OUWB curriculum) program,格罗根说。. “They learn about basic genetics and some types of rare diseases that affect small populations.”

“They learn about these diseases with an emphasis on the mechanisms…the medical explanation for why they happen,” he added. “Less emphasized at that early stage in the first couple of years (of medical education) is what the patient experience is like. That’s why this is such a great initiative…helping students see that other side that they’ll need to be effective in the clinic.”

Cummings said her own experiences with RSD/CRPS gave her insight on just how important such lessons can be for future physicians.

“It doesn’t always take education about every specific rare disease to create that understanding — it just needs to come across that having a rare disease is really, really difficult and that patients have probably been through a lot just trying to get a doctor to understand them,” she said.

展望未来, Cummings said the student organization is already planning events for next year and hopes that perhaps one day the kind of work being done by the group can be incorporated into OUWB’s curriculum.

For now, Grogan said he feels the new student organization is “great” and calls it “an important step in helping students as a whole grasp the value of understanding rare diseases.”

He also praised the student org for approaching its events in a way that reflects OUWB’s 使命、愿景和价值观 – particularly with regard to compassion, collaboration, and lifelong learning.

It’s the kind of approach that leaves participants like Ulrich feeling “grateful and very fulfilled” after the fact.

“Seeing all the soon-to-be doctors that came to the panel while knowing that their schedules are already filled to the brim, 让我对未来充满希望,” she said.

而我女儿可能看不到治愈的方法, having them join that panel tells me that Sanfilippo Syndrome will have a cure in my lifetime,乌尔里希补充道.

“They took time to come learn and it is truly indescribable to put into words how much it meant to me.”

欲了解更多信息，请联系Andrew Dietderich，营销作家，OUWB，在 (电子邮件保护).

如需采访，请访问OUWB通讯 & Marketing webpage.

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