You can’t change your genes, but you can change your behavior. You can take steps to prevent disease, lower your risk, or find problems early when treatments work best.
What I Am Still Learning About Genetics and Having a Genetic Condition
By Mallory Cyr
I have been living with a rare genetic condition almost 30 years. I grew up being a strong self-advocate, and my parents were always very educated and informed about my care, and the choices we were able to make about my life, and my treatment. I have built a career as a health care advocate, specifically around empowering young adults with chronic illnesses, and improving the process of health care transition for this population. I am pursuing a master’s degree in public health and have a pretty solid understanding of how the system works, both as a professional and a consumer.
Although I have this knowledge, and lived experience, I feel as though I am new to the world of genetics. Recently I have become more involved with our Regional Genetics Collaborative, and I currently serve as a member of the Consumer Advisory Group for NGECN, an initiative led by Genetic Alliance. I learned some basics when I was in high school, what traits were dominant or recessive, but beyond that, I do not consider myself to have very much knowledge on the topic.
Another role that I have is as a project director for a summer conference for young adults with rare genetic and metabolic disorders. During one of our earlier conferences, we invited a genetic counselor to present, and answer any questions that the participants had around family planning, their specific condition, testing or screening, or anything else. It was not until this moment that I suddenly realized this was not only relevant to all of the young adults in that room, but it was relevant to me. I am a young adult with a genetic condition. I started paying closer attention, thinking about what questions I had, and realizing how much I have left to learn!
This year I had the opportunity to attend the annual conference of the American College of Medical Genetics (ACMG) and participate in the consumer leader’s program. It was a wonderful opportunity, but also eye opening as to how much the conversation about genetics is left out for young adults who are transitioning to adulthood. There was a lot of dialogue about “genetic supports and services,” and although I have been in the health care system my entire life, I am still struggling to understand what that means, as I never received any or have even been invited to have a conversation about it within my health care settings.
Working in the field of health care transition, I am aware that there are a lot of crucial conversations that young adults are ready to have, that are not getting addressed, like those around sexuality and family planning. After attending the ACMG Conference and learning more about the world of genetics as a consumer, I am now realizing that we need to add genetics to that list! Knowledge is power, and there is a lot to learn to truly be an informed consumer when you have a genetic condition. Young adults need to be provided with all the necessary information so they can make decisions as they grow into adulthood!
Questions or topics that I would recommend young adults ask about, or health care providers bring up with their young adult patients with genetic conditions would be:
- What are the specific genes that are affected by my disorder?
- Can the condition be passed on if I have children? What are my options if this is something I want for my future?
- Is it a condition that is part of newborn screening in my state?
- What are my options for genetic testing?
- What current research going on around your specific condition?
- Where can I go, or who can I talk to if I want to discuss these questions more?
Places to learn more:
- GenesInLife.org-- explore this site!
- Genetic Alliance Booklet, Understanding Genetics
- Find your Regional Genetics Collaborative
- Nemours: A guide to genetics for teens
- Additional resources from Nemours, including condition specific resources
Mallory Cyr is a member of the NGECN Consumer Advisory Group. She represents the New England Genetics Collaborative.