If you have first-degree relatives with aneurysms, several family members with them, aneurysms that happen before age 50, or inherited diseases like Marfan syndrome, you should undergo genetic counseling.
Before your appointment, get your family’s full medical history and your own. Counselors can help you figure out your risk by doing panel testing, tailored testing, or whole exome sequencing.
The results of the tests assist in making individualized programs for prevention, which may include changes to your lifestyle and imaging schedules. The appropriate genetic knowledge can change how you think about your vascular health journey.
Family History Risk Factors That Matter
When should you think about getting genetic counseling if you have a higher risk of having an aneurysm? Your risk is up a lot if you have first-degree relatives (parents, siblings, or children) who have had aneurysms. Genetic counseling is especially significant if more than one family member has had an aneurysm or if they had one while they were young (under 50).
A family history of genetic diseases such as Marfan syndrome, Ehlers-Danlos syndrome, or polycystic kidney disease is another warning sign because these diseases raise the risk of aneurysms. Genetic testing may assist figure out if an inherited trait played a role if you’ve already experienced an aneurysm.
A genetic counselor can help you figure out your own level of risk and come up with the best screening plans for you and any family members who may be at risk.
How to Get Ready for Your First Genetic Counseling Session
Before your first genetic counseling consultation to check your risk of having an aneurysm, you should gather vital information to make the meeting as useful as possible.
Make a list of all the medical problems in your family, including any relatives who have had an aneurysm, a stroke, or died suddenly. Get your medical records, which should include any past vascular health testing or imaging studies.
Get ready to ask questions regarding tailored care plans, screening methods, and ways to avoid problems. A lot of genetic counselors like to get this information ahead of time so they can better plan your appointment. Think about taking a family member with you for support and a different point of view.
Finally, find out if your insurance will pay for genetic counseling and if you need a referral. Before your visit, you should learn about the basics of aneurysm genetics.
Types of Genetic Tests for Aneurysm Risk and What They Reveal
There are different ways to do genetic testing to find out how likely you are to get an aneurysm based on your family history. Each method gives you different information about your vascular health. These tests mostly look for genetic changes linked to connective tissue disorders such as Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysm disease.
Before you have genetic testing, you’ll have counseling sessions with experts who will talk about what the results can indicate for you and your family’s chance of getting the disease again.
Panel testing looks at several genes at once, whereas focused testing looks at specific mutations found in family members. Whole exome sequencing is a very detailed way to look at complicated instances.
You need to understand the possible psychological effects, privacy issues, and limits of testing before you can give your informed consent.
How to Understand Your Test Results
Getting the results of your DNA test is the first step in a tailored risk assessment journey. Your counselor will take complicated genetic data and turn it into useful information about your likelihood of having an aneurysm. They will do this by putting both positive and negative results in the context of your entire health profile.
Your test findings aren’t just “positive” or “negative.” They fall somewhere on a scale of risk that takes into account your genetic markers and cardiovascular risk factors like smoking and high blood pressure. This complete approach makes it possible to use focused preventive care measures like better screening schedules, changes to lifestyle, and guidelines for finding problems early.
Keep in mind that genetic testing just shows what you could be more likely to do, not what you will do. Your results give doctors useful information to help them make decisions, but they work best when they are part of a full preventive healthcare plan.
Screening Schedules and Changes to Your Lifestyle
After you get the results of your genetic test, you will need to make a detailed prevention plan that is particular to your risk profile. Based on your risk profile, your healthcare provider will suggest routine imaging tests, usually CT scans, MRIs, or ultrasounds, to look for early symptoms of an aneurysm forming.
Making changes to your lifestyle is an important part of preventive care. You should stop smoking, restrict how much alcohol you drink, and make sure you get regular exercise. You may lower your risk factors even more by managing stress and eating better.
Your plan should include sending you to vascular surgeons or neurologists who can keep an eye on you closely. Keep in mind that preventative strategies vary as your health demands change and medical knowledge grows.
In the year 2020, I encountered one of the most significant challenges of my life when I was diagnosed with an ascending aortic aneurysm. This condition, considered one of the most severe and dangerous forms of cardiovascular disease, required immediate surgical intervention. The ascending aorta, which is the segment of the aorta that rises from the heart and delivers oxygen-rich blood to the body, had developed an abnormal bulge in its wall, known as an aneurysm. Left untreated, such an aneurysm could lead to life-threatening conditions such as aortic dissection or even aortic rupture.
In response to this urgent health crisis, I underwent emergency surgery, a procedure aimed to repair the dilated section of my aorta, thereby preventing a potential disaster. This type of surgery often involves a procedure known as an open chest aneurysm repair, where the weakened part of the aorta is replaced with a synthetic tube, a demanding operation that calls for extensive expertise and precision from the surgical team.
Surviving such a major health scare deeply impacted my life, leading me to channel my experience into something constructive and helpful for others going through the same situation. As a result, I took it upon myself to establish this website and a corresponding Facebook group. These platforms are designed to provide support, encouragement, and a sense of community for those grappling with the reality of an ascending aortic aneurysm.
I often refer to those of us who have had our aneurysms discovered and treated before a catastrophic event as “the lucky ones.” The unfortunate reality is that aortic aneurysms are often termed “silent killers” due to their propensity to remain asymptomatic until they rupture or dissect, at which point it’s often too late for intervention. Thus, we, who were diagnosed and treated timely, represent the fortunate minority, having had our aneurysms detected before the worst could happen.
Through this website and our Facebook group, I aim to raise awareness, provide critical information about the condition, share personal experiences, and, above all, offer a comforting hand to those who are facing this daunting journey. Together, we can turn our brushes with mortality into a beacon of hope for others.
Also, I make websites look pretty and rank them on search engines, raise a super amazing kid, and I have a beautiful wife.
