If you or a loved one has been diagnosed recently with a genetic heart disease (GHD), you may be feeling anxious and overwhelmed. Trying to figure out where to begin and what happens next can be daunting, and for many people, this can be an extremely difficult time. For others, it could even be a tragic one. We at the Windland Smith Rice Genetic Heart Rhythm Clinic are here to help you and your family in any way that we can.
On this page, we have created an outline that will help you on your journey into the world of GHDs. While reading, it is best to write down any questions or concerns that may come up. Please understand that patient-specific requests, recommendations, and advice cannot be given prior to a formal evaluation within the Genetic Heart Rhythm Clinic.
Knowing where to begin can be a challenge. An important first step after receiving a diagnosis will be to get organized. This will help you regain some control, straighten out your thoughts and may relieve some stress associated with your diagnosis.
We recommend using a binder, folder, and/or a notebook to organize this endless stream of data. In addition, due to the heritable nature of your condition, finding and retaining the following information will be extremely important and useful for future doctor appointments.
Learn the Basics
Chances are, you've come to this page for reassurance. Internet searches on sudden death predisposing GHDs often times bring up alarming results. It is important to understand that although sudden cardiac death is the most tragic endpoint, this is extremely rare. On the Disease Overviews tab, we discuss how your heart is supposed to work, the difference between channelopathies and cardiomyopathies and we break down each GHD that the Genetic Heart Rhythm Clinic specializes in.
Facing a life-long condition can be challenging. There are many conversations that need to be had, not only with physicians, but also with family members, friends, and coworkers. Discussing the implications of your GHD with your family and having an emergency plan in place at school, daycare or work are essential and can even be lifesaving. These conversations can sometimes be hard, but they are very important. Remember that you are not alone.
Talking to Family Members
Talking to members of your family is very important due to the heritable nature of your diagnosis and will help understand the extent and implications of your diagnosis as well as possibly help identify family members with the same condition. Evaluation your family usually starts with those genetically closest to you.
Discovering that you or a family member has a GHD will cause a ripple effect that sometimes branches out to second, third, and even fourth degree relatives.
Some of your family members might be resistant or uncomfortable about discussing these topics. Some might be nervous or afraid to be diagnosed with a GHD. Remember that ultimately, it is your family member's choice to be evaluated or undergo genetic testing, despite your opinion. Respect their wishes, but let them know that you are available to talk or provide them with resources with more information should they change their mind.
For those who are open to learning about the families genetic condition, there are several talking point listed below that can help guide your conversation.
- Many people with this diagnosis do not have any signs or symptoms.
- Depending on the particular GHD, a 12-lead electrocardiograms (ECG), stress test, or an echocardiogram (echo) can be used to screen for these diseases, but no single test can be used to definitively rule them out.
- Knowing which members of a family do and do not possess the genetic variant associated with your GHD will help determine who else needs to be tested.
- Genetic testing for the family's gene variant is the only way to definitely determine whether or not a family member is at risk of having the family's disease.
- These diseases are caused by alterations in the genetic code called pathogenic variants. Clinical evaluation and genetic testing for the family's genetic variant is the only way to definitely determine whether or not a family member is at risk of having the family's disease.
- A genetic test using a sample of saliva or blood can be performed to determine if a certain member of your family has the genetic variant.
After your consultation in the Genetic Heart Rhythm Clinic, a letter for family members can be provided reviewing this and other information. A letter can also be provided with the information necessary to facilitate the ordering of family variant genetic testing.
Talking to School, Daycare, and/or Your Workplaces
It is very important that you discuss your condition with people around you to educate them what to do in case of an emergency depending on the specific location or activity that is being participated in. For anyone diagnosed with a GHD, an established emergency plan needs to be in place at school, daycare, and/or your workplace. After being seen in the Genetic Heart Rhythm Clinic, we will work with you to create an emergency response plan. We can then provide a letter explaining your condition, the emergency plan with warning signs, and other safety measures and/or any restrictions that may need to be in place. The SADS Foundation also is a great resource and provides a lot of materials for schools, teachers and coaches.
Talking to Others with Your Diagnosis
It is important to remember that you are not alone. Connecting with people who share common life experiences can provide many benefits including learning new information and strategies, receiving and providing support and building confidence in your treatment plan and ability to cope with and address issues. Information on connecting with others is provided on our Resources tab.
Sometimes, talking with others who have the same diagnosis as you can be very beneficial. They may have insight on questions you have, recommendations, and even information and stories from their own journeys. Check out our Resources tab for helpful websites or go to the Groups section of the Connect website to start or join a conversation with other patients and their families who share your GHD.