The Undiagnosed Rare Disease Clinic (URDC) is a project that works with patients who may have an undiagnosed rare disease that’s likely caused by a genetic mutation. The clinic is pediatrics focused but accepts patients of all ages, and assesses their medical conditions via clinical and research strategies. The purpose of the project is to help effected patients and families of effected patients uncover a diagnosis, learn how to adapt with it, and direct them to a care plan if applicable.
The big picture of the URDC is helping families get an answer to their children's undiagnosed genetic disease. The URDC is a research study with the goal to leave a positive impact on each solved patient case's life by helping them get answers and understand the what and why of their rare genetic disease. They're hoping to help as many families as they possibly can to change their lives for the better.
As a team member, my current strengths lie in my communication skills and meticulous attention to detail. My primary role at the clinic involves data entry on REDCap, which demands a high level of precision and focus. Excelling in these detail-oriented tasks will serve me well in future career opportunities. Strong communication skills are essential for all interactions, particularly in the workplace, enabling me to collaborate effectively and contribute to a positive team environment.
I aspire to expand my professional knowledge of genetic rare diseases and the intricate process of diagnosing them. Additionally, I aim to learn how to make meaningful contributions to the team I work with. By deepening my understanding of rare genetic disorders, I can offer valuable insights and support to both patients and colleagues. My goal is to continuously grow in my role and enhance my ability to collaborate effectively within a team, ultimately contributing to the clinic's mission and success.
As a full time student it's difficult to give my 100% to just work or just school and I often have to make a decision to choose one over the other depending on the circumstance. Though I wasn't a perfect employee/intern this year I definitely made an effort to communicate well with my supervisor about my availability and giving updates on the tasks I'm completing. I did this through putting reminders on my phone or adding into my calendar when I want to work and for how long. I also made an effort to consistently email my supervisor about work updates or even my availability or progress on the tasks I was given. Doing so helped become better at managing my time properly between school and work as well as creating a new sense of responsibility and professionalism towards my job.
Throughout this past year I contributed in the process of moving all the clinic's data regarding patient information from an excel sheet to REDCap. I contributed by making several key documents that would help all the members locate certain aspects of the excel sheets in our new REDCap project. I also contributed by doing a small portion of data entry on REDCap for some of the old patient information. My contribution helped the team easily navigate the transition from excel to REDCap using the documents I created and altered according to their directions. Being able to contribute that way gave me a great sense of accomplishement and belonging. Through out the process I learned some very valuable skills about being a team memeber, like felxibility and learning to take contructivve critisim. Even though my contribution was only a small part to the big project I felt like a professional when I was able to do something to help the entire team.
Working with my team has taught me the value of listening to and respecting all viewpoints, particularly in the medical field. I observed a culture of mutual respect and open exchange of ideas, where team members shared their perspectives collaboratively and constructively without undermining others' opinions. This inclusive approach fosters a positive environment and encourages innovative thinking.
After working at the URDC this year, I can definetly say that I learned a lot about myself and about what I want for my career and my life. I learned that there's nothing intimidating about being clueless or not understanding medical terms, and I learned to embrace the confusion and the struggle. I learned that to learn new things it's crucial to be clueless about them at first. For instance when I was first assigned the REDCap organization project I was terrified, because I had no idea where any of the patient information was, or what any of the abbreviated terms meant. But, i very quickly learned that asking questions is OKAY and that it's necessary to learning. I was very proud of myself at the end, not only because I accomplished a hard task I didn't think I can complete, but also because I felt appreciated and I felt needed. This experience made my realize that I want to work with an influential team like the URDC team one day when I'm a medical provider.
Shadowing Dr. Conboy was great in so many ways, but the biggest thing I took form the experience was the endless possibilities in medicine. Even though I learned a ton from watching Dr. Conboy, I learned even more from talking to her about different specialties and asking her about her experience in residency. I learned that I can do a residency in two different specialities, for instance Dr. Conboy did a program that allowed her to do two years in pediatrics and two years in genetics. I was extremely surprised to hear that that's possible and this made me see medicine in a whole new perspective. I always thought I had to choose one traditional route after medical school, but seeing how Dr. Conboy works in different genetic clinics, the URDC and also sees patients independently I got to see how versatile her job can be. This made me more curious about different Dermatology residency programs and different certificates that I can get a lont the way like specializing in cancer skin conditions or getting a certificate to be proficient in specific skin procedures. She also told me that she worked in a lab setting for a whole year where she got to learn how to read lab and genetics tests, she said that it's a skill not a lot of doctors get to learn and she gets called from all over the state being asked to go over and help them interpret things. I was very interested in all the information I got to learn from her and I was happy to gain new perspective about medicine and all the possibilities to my future career.
Shadowing Dr. Conboy during patient visits with new URDC patients provided me with a wealth of knowledge. Observing the comprehensive process of gathering patient information and delving into their medical history was highly enlightening. My work with REDCap for data entry also enhanced my skills, equipping me with valuable expertise that I will utilize in future research roles and opportunities.
Working alongside Ms. Mantcheva was very inspiring. I got to see her roles as the project manager and really enjoyed learning form her. I got to learn what it's like to develop good relationships with a supervisor and I learned to communicate more effectively to best ensure that there's transparency about the work being done.
Balancing my full-time studies with remote work at the clinic often presented challenges in finding dedicated time to complete my tasks amid my hectic schedule. Juggling academic commitments and clinic responsibilities required careful time management and prioritization. Despite these hurdles, I remained committed to contributing meaningfully to the clinic and ensuring high-quality work in support of the URDC's mission.
Initially, I struggled to speak up and ask about opportunities such as shadowing different professionals at the clinic or seeking clarification on case discussions. I was hesitant, fearing that I might disrupt or inconvenience others. However, I quickly realized that asking questions is crucial for learning and growth. Embracing this approach helped me become more proactive in seeking out new opportunities and pursuing them, rather than waiting for them to come to me. This shift has been instrumental in my development and my future career.
This semester, my genetics course has deepened my understanding of the URDC's processes. The lecture content has allowed me to draw connections between what I'm learning and the clinic's work, inspiring me to further explore the intricacies of gene analysis. This exposure has fueled my curiosity and desire to learn more about the field. Learning about certain genetic diseases during lecture, that are then often diagnosed during clinic allowed me to see the phenotypic features of genetic diseases that I've only ever learned about in the classroom. I also benefited a lot from learning about the different gene mutations (ie: gene deletion, insertion, and substitution), because it helped me understand what the cause of certain diagnoses are when Dr. Conboy would talk about them in clinic.