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In A Patient's Own Words

Editor’s note: The following articles are 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. If you are  a patient interested in sharing your genetic counseling experience, please email Jennie Szink at jszink@pcipr.com for more information. 

Generalized Anxiety Disorder: It’s Not My Fault
By Rina Varley

Rina Varley I have a mental illness. I live with Generalized Anxiety Disorder (GAD). I’ve been in and out of therapy for almost half my life. I was 47 years old when I was properly diagnosed with the disorder, but I’ve felt different from other people since I was 8. This is a long time to wonder, “What’s wrong with me? Why am I like this? Did I do something to make me this way?”

The Search for Answers

I’m determined to find answers to these questions, not only for myself, but for others like me. In October, 2014, I decided to leave my career of more than 20 years in the corporate sector to write a one-woman show about living with GAD. No one recovers from mental illness alone, and I felt compelled to use my creativity to increase awareness for the fact that there’s a community of people who struggle with everyday life. My writing mentor, who worked with a genetic counselor herself, suggested contacting the Psychiatric Genetic Counseling Clinic for some help in finding answers to these questions that haunt me.

Enter Genetic Counselor, Emily

Emily, a genetic counselor, answered my email, and offered her expertise at no charge to help me understand that mental illness is a combination of nature and nurture. In addition to the environment in which I grew up, which includes my world at home with my parents, my siblings, my school environment and other stimuli that I encountered, there also is a genetic component over which no one has any control. This little piece of education changed my life. For the first time, thanks to the genetic counseling program, I learned that my disorder is nothing I caused, and comes through no fault of my own. 

The Impact of Working with a Genetic Counselor

Working with a genetic counselor allows me to release the shame, guilt and fear that I have GAD because of an early childhood trauma. Emily helped clarify that trauma may exacerbate a mental disorder or illness, but trauma is not a cause. Emily also talks to me about what I can do to promote mental wellness. Proactive tools that increase my ability to enjoy life include:

  • Medication
  • Lots of sleep (including naps because GAD is exhausting) 
  • Healthy eating at regular times
  • Less sugar and alcohol
  • Exercise
  • Fresh air
  • Pets
  • Prayer
  • Meditation

Many of the items on this list are familiar to me because of my long history in therapy. And, honestly, most of these practices make good sense for anyone who wants to live their best life. The difference for me is that Emily’s list reaches my disorder from a scientific perspective, and is informed by critical data that supports what I know from therapy. It’s undeniable validation.

Because of genetic counseling, I have been able to release years of doubt and suspicion about why I am the way I am. I now own my entire life. I celebrate who I am, fully, with pure pride. Visit my website GAD to be Alive to see all of the positive ways my life has been affected by the diagnosis, including a one-woman show!

Resources

Learn more about causes of mental health-related conditions with this blog post by NSGC Psychiatric Disorders Expert Jehannine Austin. Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.


My Genetic Counselor: a Master of all Trades
By John K. Hershberger

John HershbergerNov. 8, 2013, was a beautiful fall day until abruptly and tragically it wasn’t. Unexpectedly, my youngest sibling collapsed while raking leaves and died immediately at the age of 54. In the midst of the shock and grief of his loss, his family began a journey into the previously unknown world of a rare genetic heart disease. This world is filled with mystery and anxiety. An excellent local cardiologist in Elkhart, Ind., offered what he could, but he recognized this problem was beyond his scope of practice. Where to go now?

Involving a Genetic Counselor

In a convoluted process expedited by web searches and email, which we now view as very fortunate, we found an international expert at Ohio State University. This specialty team included a genetic counselor Amy Sturm (who serves as NSGC’s cardiovascular genetics expert). Her roles were multiple and essential. I’ve often wondered what her official job description actually looks like. For us, Amy was a translator, logistics manager, source of information, coach, encourager, guide and advocate in the foreign lands of a potentially deadly genetic condition and within a massive university medical research system – both of which offer imposing confusion to the novice.

The Testing Process

Eventually, six family members organized for a two day data collection and evaluation event at Ohio State University in Columbus, Ohio. The outcomes were very mixed, which produced awkward family dynamics. I, and later both of my children, received the very distressing news that we tested positive for the mutant gene that can cause sudden death and arrhythmogenic right ventricular cardiomyopathy. Amy provided, in a careful and caring manner, a balanced view of the findings from the labs and tests, realistic expectations, and options for clinical monitoring and interventions as needed. She offered realistic grounding to counter my growing worry and catastrophic thinking.

Sharing Our Family Health History

For us, [our genetic counselor] was a translator, logistics manager, source of information, coach, encourager, guide and advocate in the foreign lands of a potentially deadly genetic condition.Given these initial results, more family members and extended relatives needed to be informed of their potential risk and evaluated. However, our first cousins live all over the United States. So, where should they go for what? Amy served as a resource manager and navigator. A particular laboratory was recommended and contacts were established. Other major university medical research centers were suggested. To our relief, we discovered these researchers and clinicians are actually colleagues in the cause. Other cousins reported similar, positive experiences and gratitude for their genetic counselors as well. Ultimately, Amy became the manager of our family pedigree for this genetic exploration.

In an era of highly focused professional specialization and turf protection, I’m intrigued by the multiple roles, broad knowledge and skills, and flexible interpersonal engagement displayed by Amy Sturm and other genetic counselors. What accounts for such capacity? I suppose it should be due more to genes than environment. In any case, as patients, we know personally the invaluable contribution of genetic counselors.  

Resources

Learn about inherited risk for heart disease and genetic testing options in this blog post by Amy Sturm. Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.


Understanding Hereditary Cancer Syndromes and the Role of Certified Genetic Counselors
By Georgia M. Hurst

IHaveLynchSyndromeAfter my brother was diagnosed with Lynch syndrome, I spoke with my doctor and he referred me to a certified genetic counselor. I immediately met with a genetic counselor and a geneticist and they took the time to explain the Lynch syndrome diagnosis. They were understanding and sensitive to the emotional gravity of the situation. They gave me time to process the information and did not pressure me to get genetic testing. After some thought, I went back a week later for genetic testing, which consisted of a simple blood draw.

I have a strong family history of colon cancer. Early deaths within my immediate family forced me to take drastic measures when I learned I have Lynch syndrome. Difficult experiences (from the loss of my reproductive organs and the lack of information on the Internet to the emotional aspects of having Lynch syndrome) were the impetus for starting my blog ihavelynchsyndrome.com four years ago. I wanted to share my story because I knew there must be others in comparable positions suffering in silence. They might feel alone and isolated, just as I did. I sought to give Lynch syndrome and the women who undergo “risk-reducing” surgeries a much-needed voice.

I frequently speak with people who have recently been diagnosed with a hereditary cancer syndrome. As a patient and patient advocate, I believe many patients who receive genetic testing could reduce their anxiety and concerns by meeting with a certified genetic counselor. A genetic counselor’s job is to give you information in order for you to make an informed decision.

Genetic information is being discovered and changing faster than many healthcare providers can keep up with. Consulting with a genetic counselor, who has expertise in genetics, hereditary diseases, disorders and counseling, will help reduce the risk that your test will be ordered or interpreted incorrectly, and will increase the chance that you’ll understand your options.

Below I outline the reasons why, from my experience, I believe seeing a genetic counselor is important for patients and families with hereditary cancer syndromes:

  1. Genetic Information and Resources
    Many doctors might not have the time to sit down and explain the details about genetic testing in a way patients can absorb and understand. Genetic counselors can help direct patients to the resources needed to understand genetic testing results, their diagnosis and the healthcare options available to them. 
  2. Personalized Approach
    The “one size fits all” approach for working with patients with hereditary cancer syndromes is not ideal. Cultural beliefs, education, socioeconomic status, personal health and personal experiences all help shape the individual healthcare decisions a person will make. Genetic counselors are aware of these issues and help support patients and their families through the genetic testing and diagnosis process. 
  3. Involving Family Members in Genetic Counseling
    Family members are often welcome to attend genetic counseling appointments with patients. This helps everyone understand the situation and can encourage others to seek genetic counseling and genetic testing themselves. Genetic testing in the family is important to consider since many hereditary cancer syndromes are deemed autosomal dominant, meaning a carrier has a 50/50 chance of passing on the mutation to their children. Genetic counselors can discuss with each individual if genetic testing is appropriate and what preventive and screening options are available. 
  4. Choosing a Cancer Screening Plan
    Different doctors often provide different recommendations regarding surveillance for hereditary cancer syndromes. Not all physicians are well-versed in hereditary cancer syndromes, so genetic counselors can help patients find doctors who understand the screening protocol for particular syndromes. 
  5. Discussing Life-Changing Decisions
    Removing body parts, such as ovaries and breasts, in order to prevent cancer can be beneficial, but it may come with quality of life issues. Taking steps to prevent cancer comes with a huge emotional, physical, and financial cost and people often suffer in silence. Before making any surgical decisions, speak with a genetic counselor or other healthcare provider about where you are in life to decide what the best option may be for you personally.
  6. Receiving and Understanding Genetic Test Results
    Genetic counselors provide patients with an analysis of test results and can help develop a letter, which can be sent out to family members, providing information about the mutation that was found and why they should consider genetic counseling and genetic testing. They can also discuss ways to share genetic testing results with family members.  
  7. Continued Support
    Genetic counselors have resources available to patients for their particular hereditary cancer syndrome. Some people may need access to a psychiatrist, support groups or reputable websites. Genetic counselors may also check in with you within the year of your diagnosis and beyond to let you know there are advancements being made related to specific hereditary cancer syndromes, clinical trials, etc. 

Other Resources

Genetic information is being discovered and changing faster than many healthcare providers can keep up with. Consulting with a genetic counselor, who has expertise in genetics, hereditary diseases, disorders and counseling, will help reduce the risk that your test will be ordered or interpreted incorrectly, and will increase the chance that you’ll understand your options.

If you have a hereditary cancer syndrome, patient advocates can assist with finding specialists, getting into clinical trials and more. Patient advocates are listeners and are highly empathetic to your situation and concerns. Follow @GenC_SM on Twitter or Gencsm on Facebook to learn more. Patient advocates and experts have come together on these channels to share and discuss the latest information.

Lastly, be wary of the information you find online. If you have questions, be sure to consult with your genetic counselor and doctor. If you’re looking for accurate information regarding your particular hereditary cancer syndrome, sites such as the Centers for Disease Control and Prevention, National Institutes of Health and Mayo Clinic are reputable. 

Learn More

Learn more about Lynch syndrome and hereditary cancer syndromes on Georgia’s blog ihavelynchsyndrome.com. Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.

Georgia M. Hurst is the founder and executive director of ihavelynchsyndrome.com (501c3).
You can follow her on Twitter @ShewithLynch.