Each day I wake up, check my email, and look at a photograph of my 9-year-old self at my brother's second birthday party. The party's theme was "When I Grow Up." Without hesitation, I looked at my mother and told her I needed a stethoscope. Medicine has fascinated me ever since — from its explanations of the human body’s inner workings to the ability to help a family through uncertain and foreign times.
Although I knew at that birthday party I wanted to pursue medicine, my hands-on experience has clarified that my place is in medical genetics. I had not realized doctors could be geneticists when I started medical school. However, through a lecture in biochemistry, I learned that underlying molecular processes can be seen firsthand in patients with inborn metabolism errors. When I realized that a geneticist could be a caregiver, counselor, teacher, and scientist in their patients' lives, I knew I was on the right career path.
As a clinical geneticist, I diagnose the following conditions:
- Epigenetic syndromes management with a focus on:
- Rubinstein Taybi syndrome
- Menke-Hennekam syndrome
- Kabuki syndrome
- CHARGE syndrome
- KAT6A syndrome
- CHARGE syndrome
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Phenotypic variability
- Eye genetics conditions
- General genetic conditions
My philosophy of care is a very holistic approach, which is how geneticists see the world. Our job is to look at the whole picture. When I see a patient, I strive to discover the underlying diagnosis to ensure care is personalized based on their particular genetic condition. Following diagnosis, I follow my patients to monitor for known complications and provide recommendations for disease-specific management.
We provide care for patients suspected of a genetic disease and those with birth defects and developmental delays. We follow our patients throughout their lifespan, knowing that care changes over time in certain syndromes.
In my research, our Epigenetic Syndromes Clinic is conducting research studies designed to understand the natural history of these syndromes better and identify targets for outcome and treatment research. At this time, we are working on collaborative projects that better clinically characterize children and adults with epigenetic syndromes, including disease pathophysiology as well as improving management and treatment for these conditions. We have ongoing work with our translational and basic science partners utilizing induced pluripotent stem cell (iPSC) lines.
I also see patients within the Neurofibromatosis Program, where we specialize in multidisciplinary care as well as a plethora of research studies for interested individuals. Through our research, we strive to impact outcomes for patients and bring even more drugs to the market following the first approved medication for neurofibromatosis type 1 in 2020. Additionally, I serve as a consulting geneticist to the CHARGE Center and see patients when they visit the CHARGE Center team. We also are involved in the CHARGE Center Registry, where I serve as principle investigator and collaborate on research projects addressing patient outcomes and natural history.
During my free time, I love to hike, camp, eat delicious food and garden. I also love marine biology and would have become a mermaid if that were possible.