Megan McCabe
Boston Children’s Hospital
Clinical Research in the Department of Genetics and Genomics
Tell us about yourself…
My name is Megan McCabe, and I am a Clinical Researcher at Boston Children’s Hospital in the Department of Genetics and Genomics. My research is on the Orphazyme NPC Expanded Access Program, along with some other rare disease clinical trials. I graduated from the University of Notre Dame in May of 2021 with a degree in Neuroscience and Behavior. During my time at Notre Dame, I developed a passion for working with the rare disease community. This included work in both scientific and advocacy areas.
What inspired you to begin working in the field of Niemann-Pick Disease?
My initial inspiration for working in the NPC field began in the fall of my freshman year of college. It was at a Notre Dame football game where I saw a video presented in the stadium during halftime that featured the incredible work Notre Dame does with NPC through the Boler-Parseghian Center for Rare and Neglected Diseases. Dr. Elizabeth Berry-Kravis was mentioned and caught my attention in the video because she was working in my home city Chicago, and also was an alumna of Notre Dame.
I decided to reach out to Dr. Berry-Kravis to see if I could learn more about her work. I ended up meeting her a few months later at Notre Dame’s Rare Disease Day event, and she offered me a position to work with her on a NPC clinical trial that summer. Under her direction, I helped with running clinic visits, prepared data, FDA annual reviews, among other typical clinical coordinator roles. After that summer, Dr. Berry-Kravis connected me with Professor Barb Calhoun, who was involved with Notre Dame’s Boler-Parseghian Center for Rare and Neglected Diseases. I worked with Professor Calhoun during the remainder of my time at Notre Dame. Under Professor Calhoun, I prepared various reports for NORD, created patient clinical summaries and completed other projects related to NPC. I continued to work with Dr. Berry-Kravis for another summer and on all of my breaks home from college. During this time, I also joined the Young Adult Representatives of Rare Disease Legislative Advocates, which is a part of the EveryLife Foundation for Rare Diseases. This is a great outlet for me to focus on advocacy for the NPC community.
How did you come to be involved with NNPDF?
After graduating from Notre Dame, I accepted a position at Boston Children’s Hospital in the Department of Genetics and Genomics. I now coordinate various rare disease clinical trials, one of which is an Expanded Access Program for NPC. It has been wonderful to meet and talk with some of the families on this trial! Aside from attending the NNPDF conference, I was recently connected with NNPDF to discuss the needs of the NPC community, and I look forward to continuing this conversation with them.
What changes have you seen in awareness of NPD in the medical and scientific communities?
In my four years of working with NPC, I have noticed an increase in awareness and communication between various organizations and leading professionals in NPC research. Compared to my work with other diseases, I have never seen a disease community with so much communication and collaboration between patients and their families, advocacy organizations, research organizations, researchers, and clinicians. A great deal of this increased communication can be attributed to organizations such as NNPDF. The patient and family-centered work of the NNPDF is truly unique.
What do you think the future of NPD looks like?
The future of the NPC community is bright, despite the various setbacks that have occurred related to treatment access. In just my four years of working with NPC, I have fortunately noticed a huge increase in awareness of the disease, which seems to be heavily driven by patients and their families. In turn, this awareness has and will continue help research routes and drug access going forward. The passion of especially the patients and families in the NPC community is inspiring. They are truly making a difference for the future of NPC, and I have been so grateful to meet many of these patients and their families.
originally posted on National Niemann Pick Disease Foundation