Week 3 - Mary

I just finished my third week of the summer immersion program at Weill Cornell. Most of my time went toward my research project, working through the literature review and setting up the research infrastructure, with the rest spent shadowing in Dr. Shimonov's clinic.
 
Clinic this week pushed back on how I'd been thinking about ADPKD. One of the patients had ADPKD with an IFT140 mutation, which I hadn't come across before. It tends to cause a milder, later-onset form of the disease, with fewer but larger cysts and kidney function that often holds up well into older age, unlike the more common forms, which can progress aggressively toward kidney failure. Learning that reframed the way I had been looking at ADPKD in my research project. The same ADPKD label, depending on the exact gene behind it, can mean very different things for how a patient is monitored, what they're told to expect, and whether they're treated at all. It also helped me understand why there's been such a strong push for genetic testing and for longitudinal case studies like the one I'm working on. The same uncertainty applies to Tolvaptan, where the field still can't reliably predict who will benefit, so the decision leans heavily on imaging and clinical judgment rather than anything definitive.
 
I also learned how much blood pressure matters in ADPKD. I'd noticed that nearly all of the patients were on blood pressure medication, but I'd assumed it was routine rather than central to managing the disease. In fact, it's tied directly to how ADPKD progresses. As the cysts grow, they distort the kidney and quietly raise blood pressure, and that elevated pressure seems to push the cysts to grow even further. This reinforced to me how important it is for doctors to understand these underlying connections, both to treat effectively and to explain to patients why something as ordinary as a blood pressure pill is doing more than it appears to.
 
Additionally, through Seo-Ho, I had the opportunity to observe my first surgery this week, a hemithyroidectomy performed by Dr. Thomas Fahey. The hemithyroidectomy removed a thyroid lobe that was enlarged by a goiter and contained a large nodule, and once it was out, we were able to examine it directly. It was my first time in the operating room, and I was struck by how precise and deliberate every step was. Additionally, though surgery falls outside the scope of my research, it was a fascinating thing to witness, especially after spending most of the week thinking about disease through scans and lab values rather than seeing it firsthand.