Emily Lisi of
the Institute of Genetic Medicine
on pediatric genetic counseling and hypotonia:
What attracted you to pediatric genetic counseling?
LISI: I was actually recently talking to a couple of friends of mine from graduate school who provide prenatal genetic counseling. They hated pediatrics because you are always giving sad news: you’re always seeing kids who already have problems versus in prenatal genetic counseling, where you usually give normal results.
I have decided that I think of it differently, in that people already know that there’s something wrong with their child. Giving them a reason for it, telling them what to expect in the future, and telling them that it’s not their fault can be really valuable to them. It is such a privilege to be able to help families walk through a crisis point and then follow them over a long period of time to the point where they accept the diagnosis and become advocates for their child.
How frequently do you meet with a particular patient?
LISI: Usually when we make a new diagnosis, it’ll be once every three to six months. Typically, the older the child gets, the more comfortable the family feels with the diagnosis, so we’ll space it out to about once a year.
Do you usually meet with the parents and the child at the same time?
LISI: It’s important for the child to be there in the beginning so that the doctor can perform a physical exam and see if they have abnormal features or physical problems that would help us come up with a diagnosis. But sometimes we see the parents alone to explain test results if it’s more productive to not have the child there.
Once the child gets older, do you eventually start meeting with the child alone?
LISI: If they’re cognitively normal, it’s actually very important to meet with the child alone to discuss how they feel about the diagnosis, how they feel about their school situation, and whether or not they’ve told their friends about it, etc. It’s very important to do that in the context of their own life without their parents present in the room because usually they’ll open up a lot more if their parents aren’t there.
What kinds of conditions do you typically treat/see?
LISI: I mostly deal with kids who have hypotonia, which is low muscle tone due to a chromosome abnormality, a muscular dystrophy, an underlying muscle disorder, or some unknown cause. People come here from all over the country to see Dr. Ronni Cohn, who is a specialist in hypotonia.
At what age does hypotonia typically present?
LISI: It can present in the newborn period if it’s severe: the newborn can be very floppy and maybe not be able to move their arms and legs against gravity. Or it can present when the child is not meeting his/her gross motor milestones, such as sitting up or walking. For many children the hypotonia improves over time, but sometimes it doesn’t, which is when we come in.
How does hypotonia affect a child’s life?
LISI: I think it can be really difficult, especially for boys because it plays a big role in athletics and whether or not they can participate in sports. They can be really good at swimming, but things like running and riding a bike, they can’t do as well. That can be really difficult for some of them. In more severe cases, it can affect all aspects of a child’s health, including their ability to eat, breathe, and interact with their environment.
Do you talk to them about ways that they can boost their self-esteem?
LISI: Yes, we talk about working towards the things that they’re good in instead of focusing on the things that they can’t do as well – focusing on music or art, which are things that they would maybe be more apt to do than athletics. They may also be particularly suited for gymnastics or swimming because of their additional flexibility.
How emotionally difficult is this job?
LISI: When I first started this job, I would think about families a lot at home and worry about them. I guess it’s nice for the families that I cared about them, but it was too emotionally draining for me to do that. With my personal relationships, it was difficult because I gave a lot of myself to my patients and didn’t make a clear boundary between my personal and professional life. Over time I learned to “leave work at work”. I still think about my families a lot, but I don’t go home and perseverate over them.
What is the most challenging aspect of your job?
LISI: I have charts in my office forever because families keep having issues that come up that you have to deal with, and you never can feel like, ‘okay, I can check that off’ because they’re always going to have their genetic condition. That can be a bit of a challenge, I think. Another challenge is that there are so many patients, and there’s never enough time to do all that you want to do for each one.
What do you love most about your job?
LISI: The long-term relationships that I develop with patients. In pediatrics, you follow patients regularly and you develop really good relationships with families. You really start to care about them as people, not just patients, and they send you Christmas pictures of their kids. It’s just great to see the kids grow up and see the family adjust to the genetic condition. It’s really, really rewarding to know that you have become a little part of their family and have helped them to deal with a physically and emotionally difficult time in their lives.