Questions from a Future Genetic Counselor: How Can I Help the Rare Disease Community?

I came into the world with a rabid sense of curiosity. From an early age, I badgered and begged those around me to offer up explanations for all sorts of things—an infinite stream of how’s and why’s and where’s and when’s that certainly drove everyone a little crazy. With voracious hunger I feasted on the knowledge of family and friends, and I developed a deep respect for sharing information, spreading awareness, and understanding others.

At some point, I began to realize something was shifting within my family. Children so readily believe that their fathers are bulletproof, so when I noticed my dad beginning to slow down, I was desperately confused. Despite how many questions I asked, for the first time in my life no one was eager to explain what was happening or how I could help. My ceaseless need to understand the how’s and the why’s was overwhelming; at times I felt hopeless, afraid, and angry. Eventually, I just stopped asking questions.

I know now that my family is fortunate. While chronic health problems still limit my father, he leads a full and celebratory life, and is often completely unencumbered by his condition. A diagnosis was quickly made, an FDA-approved treatment plan was put forth, and my sister and I were assured that there was no hereditary component or risk of us passing this illness along. He could go back to being our loving and infinitely-supportive father. I could go back to asking questions without trepidation. We could leave the fear behind.

Without question, being the child of a chronically ill parent left its impact on my life. My professional interests began to oscillate between a desire to pursue innovative medicine and a need to interact hands-on with families. My specific interests in hereditary disorders was peaked in early high school, and, after some online inquiries, I realized genetic counseling would be a perfect fit for me. It combines cutting-edge, intellectually-challenging science with a human element that is often missing from research and other branches of medicine.

In light of my career intentions, I spend a lot of time reflecting on that difficult period in our lives and wonder what could have been handled differently—were my parents give enough information? Should they have spoken honestly to us about their emotions? Should my sister and I have been included at doctors appointments? If we knew what was happening, could we have helped?

I often think about how my experience differed greatly from the experiences of families in the rare disease community, where doctor-patient communication is often strained. I can’t imagine being told a cure may never be found for my child’s disease, or discovering that medical professionals don’t know what’s wrong with my brother or husband or best friend. After learning about the Global Genes and the RARE Blog, I knew I had to reach out to affected families to start a dialogue about these issues. Increased understanding about the patient perspective is a major step towards making changes in the professional treatment of rare disease.

So just as my need to ask those burning questions never dissipated, I wanted to give the same opportunity to the rare community.

I would love to hear feedback from readers about these issues:

• What questions do you wish you had asked your medical team?
• What do you wish your doctors had told you?
• Were you satisfied with the amount of information you received?
• How could your experience with specialists, genetic counselors, etc. have been improved?

Please share your thoughts, stories, questions, and concerns!

Hannah is an undergraduate student majoring in genetics at the University of Wisconsin-Madison. Following graduation, she intends to pursue a career in genetic counseling.