For Phoebe, being a part of research means being a part of a program at the NIH. The NIH, the National Institutes of Health in Bethesda Maryland, is a part of the U.S. Department of Health and Human Services, and is the largest biomedical research agency in the world. Phoebe’s immunologist has been consulting with a doctor at the NIH ever since he joined our team of specialists in 2014. But it was when I stumbled across the citing of the Undiagnosed Diseases Program in paperwork the immunologist had given me to read that the NIH because more than just “I went to school with a doctor who works there”.
Being a part of the Undiagnosed Diseases Program at the NIH means Phoebe has a team of research doctors who are pouring over her extensive medical history, analyzing her genetic raw data, comparing previous test results to their other cases/research, formulating plans for more thorough testing and trying to connect the dots of her medical fragility. This process is not easy, and it is certainly not quick. We applied to the program in July 2015, heard we got into the program in March 2016, and had our first visit to the NIH in July 2016. And as we are about to enter 2018, we are still waiting to hear about a date for a return visit, results of the genetic raw data analysis, what testing they want to do next, and if they have any leads.
So while it can be frustrating waiting for information and next steps, we know that even though we are not there, her team is still working on her case. The research that is being done at the NIH is helping not only Phoebe, but the entire world. Because research doesn’t just help the patient involved in the study. It helps all the other patients who currently have the disease/disorder, those at risk of having the disease/disorder and those who will have the disease/disorder in the future. And for us, it has always been about helping as many as we could. Being a part of the NIH is allowing us to just that.