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We continue the interviews we started in the last installment of this series with genetic counselors who also have personal patient experiences with a rare disease or hereditary cancer syndrome. If you haven’t yet, check out Part I with two incoming genetic counseling student and a recent graduate who share their experiences.
My mother was diagnosed with FVL due to a personal and family history of thrombophlebitis (an inflammatory process that causes a blood clot to form and block one or more of the superficial veins). My primary care physician (PCP) recommended that I pursue testing since she would use this information to determine whether or not I should remain on oral contraceptives. I was found to be heterozygous for FVL the summer before I entered graduate school for genetic counseling.
During the process of being diagnosed, was a genetic counselor involved?
No. My PCP called me at home, briefly explained the results, told me to immediately stop oral contraceptives (which I was taking for reasons other than birth control) and basically explained that I was at increased risk of developing blood clots. There was little information provided about what my actual risk of a blood clot was, what I could do about it (other than stopping hormonal therapy), or what it meant for other relatives.
How do you think your experience would have been different if a genetic counselor had been involved?
As a genetic counseling trainee, I was blown away to learn about the comprehensive education genetic counselors provide to their patients, as well as the psychosocial support and anticipatory guidance. If a genetic counselor had been involved in my care, I think I would have had a much more thorough understanding of the genetic basis, inheritance, associated clotting risk and modifiers, and would have a better understanding of what I could do to navigate life with this clotting disorder. I ended up seeking out education and support resources on my own, but I think a genetic counselor would have helped me identify these tools as well.
Can you share with us your thesis in graduate school?
My thesis was entitled “Knowledge and Educational Needs of Individuals with the Factor V Leiden Mutation” and was published (Hellmann EA et al J Thromb Haemost. 2003 Nov;1(11):2335-9.). We mailed a survey to individuals who had tested positive for FVL through an academic medical center and assessed their knowledge about FVL, their satisfaction with the information they received about the diagnosis, and their psychosocial reactions to testing. This study identified several gaps in patient knowledge about FVL (such as overestimating the magnitude of thrombosis risk with FVL) and indicated that many patients desired more education and information. It also suggested that patients were glad to know their genetic status despite that this knowledge causing increased worry.
How did your patient experience and research influence your genetic counseling career?
My patient experience was instrumental in shaping my career. My experience and research led me to recognize the opportunities there were to improve education and support for patients undergoing thrombophilia testing. Throughout my career, this has been a central focus of mine, leading to my current position at Nationwide Children’s Hospital in Pediatric Hematology/Oncology.
What was your role in the founding of the first US non-profit and advocacy groups for hereditary clotting disorders?
Thanks to my thesis mentor, Stephan Moll, I was invited to a workshop at the Centers for Disease Control and Prevention and was able to connect with clinicians, public health officials, researchers, and patients who were passionate about thrombosis and thrombophilia. This initial meeting led to the formation of what is now the National Blood Clot Alliance, a patient-led, 501©3 health advocacy organization. I served on the Board and subsequently the Medical and Scientific Advisory Board for approximately 10 years, and am still involved in their education, fundraising, and awareness initiatives.
How does your personal patient experience impact how you communicate with your patients today? Have you ever found it appropriate to share your story with a patient?
Having been a patient myself, and having connected with others who have been impacted by thrombosis and thrombophilia, has given me a depth of understanding of patient and family needs that I would not have otherwise. I think my experience has made me better at tailoring the information to suit a family’s needs, has given me insight into some of the complex management decisions they may face, which allows me to help them anticipate and navigate these choices. I also feel like I am a more empathetic listener and supporter. Although I do not routinely share my experience with patients, because I have published a lot on the topic and have been involved with advocacy (where my personal story is public), at times a patient becomes aware. Other times, I have shared the information if I think it might be helpful for that patient to know for a particular reason.
How have you been able to be an additional support and resource to your family?
I am definitely the “resident expert” and field questions from family, friends, and colleagues. I have helped advise my family on testing decisions, and have assisted them in knowing what questions to ask their doctors as related to management.
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Where did your journey with Ehlers Danlos syndrome begin?
It began when I was sitting on the patient table the first time I met with a rheumatologist for my chronic joint pain. During the evaluation, he made an off-hand remark that my joints were “a little looser” and how that can be passed on to children. That’s when a light bulb when off and I realized what explained the odd and varied symptoms (joint pain, tachycardia, fainting, etc.) in myself and in my family members.
After your realization, did you pursuing genetic counseling and genetic testing to confirm your diagnosis?
Yes. After that visit, I contacted my primary care provider for a referral to the local genetics clinic. A few months later (this was in 2008, so not as long of a wait as now) I had an evaluation with a geneticist who confirmed my suspicion.
How did your experience being a patient influence your genetic counseling career? Did it lead you to specialize in a certain area of genetic counseling?
It gave me a greater understanding and compassion for the diagnostic odyssey and the frustrations that come with balancing a chronic health condition and other areas of your life (work, schools, kids, etc.). I didn’t specialize in a certain area, but it has affected my work situation. Because of the symptoms of EDS, I found it difficult to do a “traditional” genetic counselor job in a clinic. After my clinical position, I’ve adjusted my career expectations and have worked in public health, telegenetic counseling, and now as a consultant with My Gene Counsel (mGC CEO’s note: where she is rockin’ it and much appreciated!!!).
How does your personal patient experience impact how you have communicated with your patients? Have you ever found it appropriate to share your story with a patient?
When I was working in the clinic, I didn’t share my story with patients. I think that was partly because I was still adjusting to the diagnosis. About a year after the diagnosis, I transitioned to a position that didn’t have direct patient interactions. However, there were projects with patient advocates working to improve access to genetic services. During those projects, I could draw on my personal experiences and occasionally shared my story.
As a genetic counselor, how have you been able to be an additional support and resource to your sisters?
They live in a more rural area of my state, so I was able to help them navigate the health care system to get a genetics visit for an evaluation. I’ve also been grateful to my fellow genetic counselor colleagues who have helped me find different specialists for me and my sisters in different cities.
Are you personally involved with any committees/organizations related to Ehlers Danlos syndrome or rare diseases?
Not at this time. However, I’m hoping to participate in the Ehlers Danlos Society’s Global Registry and look forward to seeing what is learned through its efforts.
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Check out all other episodes of our Trailblazing Genetic Counselors series here. And if you haven’t read the previous installment, check it out to hear from more genetic counselors who also have the patient experience of having a rare disease or hereditary cancer syndrome.
Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email email@example.com!