How a Genetic Counselor Can Help You — Told by a Rare Patient

This personal story is shared through the eyes of Melissa Hayden, a rare patient and her journey working with her genetic counselor, Allison.  

“Twenty-four years, hundreds of doctors, and countless genetic tests later and I finally, with the help of my dedicated genetic counselor Allison, found an answer. No longer am I a patient with an “undiagnosed genetic condition,” and Allison was a driving force in this becoming a reality.

I was born prematurely with many other obvious signs that something wasn’t right. Since then, I have had more than 10 brain surgeries, three spinal fusions, hundreds of days in the hospital, and more doctor appointments than I can count. I have a sister who passed away at age 5 from an aneurysm. I knew I had a genetic condition, but I never knew what type.

After years of testing and always hearing results of “inconclusive,” I became weary of the process. I resigned myself to never knowing my condition. Luckily, I was blessed to be assigned to Allison, my genetic counselor. She was always so positive and encouraging, but honest too. She brought new suggestions, new test options, and more information. All of this is key to any genetic counselor’s role.

Allison cared about my well-being as a whole person — not just the person she knew from my medical records and test results. She took the time to ask about my life outside of the hospital. She constantly reminded me that eventually we would find an answer and that she was working tirelessly to help me do that. As a genetic counselor, she had to wear so many hats: intelligent genetics department staff with facts to deliver, translator to repeat those facts in English, caring psychologist to help me cope with the lack of a diagnosis, and supportive friend. I knew how much she cared about me and how hard she was working to help find a diagnosis. I will never forget the day when she finally got to tell me something different.

She also brought every piece of medical journal literature about the syndrome to show us. She gave us every detail on the condition and information about the other nine patients in the world that have this condition. She answered every question we had to the very best of her ability.

Without Allison, I wouldn’t have a diagnosis. Without Allison, I wouldn’t be able to say that my medical history will be published for others to learn about the syndrome, which will hopefully save many lives in the future.

Global Genes has created a series of toolkits, videos, and checklists to share insights from rare advocates and experts who have personal experience – professional and personal. This patient story was featured in our genetic testing toolkit, How a Genetic Counselor Can Help You. Find more information and download all four free Genetic-Based Diagnosis toolkits and other resources here.