The following article is a part of the National Society of Genetic Counselors’ patient blog post series. Written by real patients, these stories share a glimpse into the sometimes-complicated world of genetics and the role a genetic counselor can play in helping people navigate their healthcare.
Juan R. Martínez was born and raised in Veracruz, Mexico. He was always physically active, working cattle from a young age. He married his wife Nohemí in 2001, and in 2003, moved to Columbus, Ohio, where he worked in landscaping and they raised their two children.
Throughout his life, Juan had a persistent cough but didn’t think too much of it. It wasn’t until 2013 that his primary care doctor listened to his chest and heard a murmur. A referral to a cardiologist was placed to follow up on the murmur. The cardiologist diagnosed Juan with hypertrophic cardiomyopathy, a genetic condition characterized by thickening of the heart muscle. Juan and his family had never heard of this condition, but they quickly learned how harmful it could be. Three months later, he had a cardiac arrest. Luckily, Juan has recovered, but there was still more to learn about his diagnosis.
Juan’s diagnosis of hypertrophic cardiomyopathy meant that his children had a 50 percent chance of inheriting the condition. His cardiologist recommended that Juan have a genetic test. The test may identify the mutation responsible for Juan’s condition. But, not all genes associated with this condition have been discovered, so even if Juan’s test was negative, his children may still be at risk for the condition. Therefore, it was also recommended that Juan’s children undergo annual cardiology tests to determine if they had the condition. With genetic testing, however, if Juan’s results showed a mutation responsible for his condition, his children would then have the option of having the genetic test. If their genetic testing results showed that they inherited the same mutation identified in their father, their annual cardiology testing would continue. If they were negative, the need for cardiac tests would be eliminated.
Based on Juan’s diagnosis, I agreed with his physician that he should consider genetic testing so his family could understand the implications on their health. Juan's result was positive, which confirmed our original assessment that his condition is genetic and that his children were at 50 percent risk. Since Juan's test identified the mutation that caused his condition, now his family members have the option of knowing if they have the same mutation and could determine if they are at risk of developing hypertrophic cardiomyopathy.
Everything about this entire process - starting with the diagnosis to the genetic testing result – came as a surprise to Juan and his family. Thankfully, what was once an unknown is now a condition we’ve worked together to better understand and help evaluate risk for his family members. I recently had the opportunity to speak with Juan and Nohemí, and they kindly agreed to share their impressions about the genetic counseling process for others who might be interested.
Ana: Why do you want to share your story?
Juan: I never imagined that I had a genetic condition. We never had this type of [genetic counseling] visit before. I want to share my story because I think perhaps other people could have the same genetic condition I have and they should be aware of it.
Nohemí: It can be helpful to read or hear about the process from someone else. We have not seen any other interviews on this topic and we had not acquired information from other patients at all. In other words, what we have lived, we had to learn about day by day.
Ana: When the idea of going to a genetic counseling appointment was first presented to you, what was the first thing that came to mind?
Nohemí: That maybe Juan developed the condition because of his work, because he works hard at his job. We never thought that his condition would be genetic.
Ana: Some families, when faced with this question, for reasons of fear, decide not to know whether their condition is genetic. What do you think about this?
Nohemí: Yes, there is fear, but it is better to speak with the truth when my children’s results are in our hands. I prefer to know because I would pay close attention to my son or my daughter knowing that he or she has hypertrophic cardiomyopathy. We will not hide the truth from them. This knowledge is going to help us recognize symptoms.
Juan: I did not fear anything because whether the genetic test result was positive or negative, I already have the condition. What worries me most is my children. I would tell others not to be afraid. When you [our genetic counselor] explained the process, it was a lot easier.
The concern for children is something very natural, and something that we discussed in the process of genetic counseling. I wanted to explore more thoroughly how that experience was for Juan and Nohemí.
Ana: Could you explain in your own words what a genetic counseling visit is like?
Nohemí: We had never been to the genetics department before, but they took very good care of us. When you showed up and told us "I speak Spanish," all of our doubts vanished. There was someone who spoke to us in our language, someone who gave us reassurance.
Ana: I'm glad to hear that! If you could compare how a genetic counselor is different from a doctor or a nurse, how would you describe it?
Nohemí: You go to a doctor because "it hurts here!", but a genetic counselor asks questions about your parents, grandparents, and great-grandparents to find answers. Nothing hurts, you just go for answers.
Ana: Sure, answers can be found. Was there anything in particular that you were told that made a difference?
Juan: Almost everything, because I did not know anything about my family history. I was sad and felt bad when you asked me and I knew nothing about my parents and grandparents; I only knew about my siblings. Now I talk with my children about my condition.
Nohemí: We were surprised because our family health history is lost, perhaps because of us being in another country than our relatives. When we came from the genetics appointment and my children came back from school, I said to them: "Sit down to eat. When you are grownups, you will know what your dad has and you will talk with your children. Know what we have. Know what it is. I do not want you to be in a situation where you don’t know that your father or relatives had a genetic disease that may been passed down to you." We realized that this is the sad reality, that we are not informed about our relatives’ diseases.
Ana: Juan, how was the task of talking about your condition and your result with your relatives, your children and your wife?
Juan: We got together in our home. I explained everything that we had done in order to know the genetic testing results. We had a group conversation. Some say that they want to have the test and there are others who do not. All of them since they didn’t have symptoms, they didn’t think they should get genetic testing. Some said that they were scared. My wife supports me and understands how difficult it is to learn about this type of result. My children also understand it. We explained everything, and I told them that if they want to do it, it’s their decision. We already did our part by telling them.
Fear is a natural emotion in people who have an inherited condition that could affect their family members. Genetic counseling helps to process these emotions and provide support while family members talk about genetic risk. Genetic counselors also help people understand the importance of preventive health care. In our specialty, the goal is to initiate care when a risk or a genetic change is detected, before the symptoms occur, to avoid future health complications.
Ana: For other patients who have the same condition, symptoms, or genetic problems, what message would you give to them?
Juan: Don’t be afraid; know what you have. It can help you as it was in my case. Try to seek help because we cannot all be as I am. I was saved from a cardiac arrest from an arrhythmia.
Nohemí: You have to get to the truth, and with genetics you discover the truth. Yes, there is fear, but you must take a step forward, to discover the truth. You have to move forward each day, with love for your family and God. I remember learning about genes in elementary school. You don’t understand much, but thankfully now there are counselors who dedicate themselves to explaining it to you.
Ana: That's what we are here for. Know that you can always count on the support and information that I can give you. And I hope everything goes well with your children.
Nohemí: Thank you.
Juan: Thank you very much, Ana. God bless you.
Ana Morales, MS, LGC is a genetic counselor at the Division of Human Genetics at The Ohio State University, where she focuses on genomics and cardiovascular genetics.
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