A new student organization at Oakland University William Beaumont School of Medicine aims to help future physicians better understand what it means to be a patient with a rare disease.  

The National Organization for Rare Disorders – Students for Rare, OUWB Chapter, is the brainchild of M2 Jessica Cummings. 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.”

“Patients with rare diseases and their families face profound physical, emotional, and financial burdens, and these burdens can be exacerbated by the lack of education many medical providers receive about rare conditions,” the official description states.

“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 correct diagnosis and appropriate care and can teach future physicians how to better support and advocate for this unique patient population.”

Cummings said the idea stemmed from her personal experience with Reflex Sympathetic Dystrophy (RSD), which is also called Complex Regional Pain Syndrome (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.

“It was a long time from first having symptoms to being able to get a diagnosis,” she said. “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’s first session was held in February and featured a panel discussion on RSD/CRPS.

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. It’s reported that many patients go years without receiving an accurate diagnosis, 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, and other children with Sanfilippo Syndrome has become a very big part of who I am today,” said Ulrich. “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.”

During the panel, 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. (The video and other details can be found at SavingVeda.com.)

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

“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, asking what can be done and being told ‘take her home and love her while you can.’”

“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’

That’s exactly what the student organization is all about, said James Grogan, Ph.D., professor, Department of Foundational Medical Studies.

He serves as faculty advisor, 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,” said Grogan. “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.

Looking ahead, 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 mission, vision, and values – 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, gives me a lot of hope for the future,” she said.

“While my daughter might not see a cure, having them join that panel tells me that Sanfilippo Syndrome will have a cure in my lifetime,” added Ulrich.

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

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.