Gretchen Oswald

Gretchen Oswald of
the Institute of Genetic Medicine
on aneurysms and connective tissue disorders:

How did you get interested in becoming a genetic counselor?

OSWALD: I was first exposed to the profession when I was a junior in high school. My anatomy teacher, who I very much respected, told me about this profession. She thought I would be good at it and encouraged me. I had loved science throughout school, but knew that working in a lab or being a physician were not for me.

In college, I majored in biology, and minored in psychology. Genetic counseling is the best of both worlds: you get to stay up to date on current advances in genetics, and you get to apply that to families and how it impacts them. I just think that interweaving is where I’m supposed to be.

What kinds of things does a genetic counselor do?

OSWALD: In clinic, the genetic counselor’s responsibility is to help review the clinic charts and know as much as possible about the 10-20 patients coming in that day. We take histories and counsel about genetic conditions and their recurrence risks and medical and psychosocial implications. We coordinate genetic testing and help the trainees learn.

In the office, it can be widely variable. Sometimes I’m on the phone for an hour with an insurance company trying to get authorization for a CT, and sometimes I have a phone call from someone I’ve never met before from Louisiana who was just diagnosed with Loeys-Dietz syndrome and has all these questions. I also do a lot of letter writing to explain test results. And so it’s basically running with whatever is thrown at me. I think the best part of being in the office is communicating with families who call us with random questions or with physicians in the area who have questions about a specific diagnosis.

Do genetic counselors at Hopkins generally specialize in a particular disorder?

OSWALD: When you first come to Hopkins, you’re trained to be very well-based in all the different genetic conditions, which considering there are so many different genetic syndromes, there’s a lot to learn. We also take call, which means that anyone at the hospital can call to ask you questions or ask you to see anyone in the hospital, so we have to be familiar with a wide variety of genetic conditions.

However, just like the physicians in the department, after you have been here a while, you start to figure out the type of patient that you really enjoy working with. Many genetic counselors, after being here a few years, choose to subspecialize. For instance, I previously worked with both the skeletal dysplasia clinic and the aneurysm/connective tissue clinic, and now I’m transitioning to full-time connective tissue clinic.

What exactly is an aneurysm?

OSWALD: An aneurysm is an enlargement. In Marfan syndrome, the aortic root is the most frequent place to have an enlargement. In Loeys-Dietz syndrome, you can actually have artery enlargements throughout the body, from head to pelvis. If you’re walking around with an aortic or artery enlargement, that can be scary. It’s a difficult reality to have in the back of your brain on a daily basis.

How might you help a patient who has Marfan syndrome?

OSWALD: In Marfan syndrome, patients can have physical differences, like curvature of the spine, and maybe look a little bit more gangly than their peers. Definitely in that adolescent period when kids want to fit in, it can be really challenging to have physical differences. We spend a lot of time talking about the beauty of uniqueness and how to get through the middle school and high school years to the college years when diversity may be more encouraged and embraced.

Because of Marfan syndrome, you have exercise restrictions to reduce stress on weak tissue in your aorta. For example, you can’t play basketball and football – social activities that can be really important to kids. And so we spend time counseling on why, from a medical standpoint, it’s really important that they restrict themselves, and discuss finding other safe activities where they can find their own self-worth, whether it be in drama, arts, or school politics.

Also there’s a lot of situational counseling around upcoming surgeries, including cardiovascular and/or orthopedic surgeries. We try to connect those with upcoming surgeries with people who’ve already had the surgery. Often those individuals have the best advice to calm anxiety. We also talk through their fear – what’s realistic and what’s not – and just what to expect in the hospital and during the recovery period.

Do those patients often deal with depression?

OSWALD: There are some families who have problems coping with multiple and chronic medical issues and others who have depression related to a specific medical crisis. We take this very seriously. However, the vast majority of families deal very well in the face of difficult medical problems; they have so much hope and have banded together to move forward in a positive, hopeful, and encouraging way.

What do you love most about your job?

OSWALD: The most fun part about this job is the patients. The patients are amazing, and they let me into their lives in such a beautiful and trusting way. I feel like I have all these wonderful people around the world that I would have never gotten to meet, help, and learn their stories if I wasn’t here at Hopkins.

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