Student Spotlight: Elizabeth Bombal

 

    In the United States, a rare disease is a condition that affects fewer than 200,000 people. As one can imagine, having a disorder that affects so few individuals can come with many challenges. A common challenge those with rare disorders encounter is difficulty in finding a diagnosis for their symptoms. The journey to a diagnosis, often referred to as a diagnostic odyssey, can take years for these individuals. Another challenge often encountered is a lack of appropriate resources available to help patients understand and manage their diagnosis. Genetic counselors can be instrumental in assisting patients with rare diseases throughout their diagnostic odyssey and in ensuring they understand the often complex and overwhelming information that accompanies that eventual diagnosis.

 

    When I started thinking about my genetic counseling thesis project this past year, I knew I wanted to focus on the rare disease space. After much brainstorming and discussion with faculty and classmates I narrowed down my topic to looking at education materials for a rare genetic condition called Hajdu Cheney Syndrome. There are currently fewer than 100 people worldwide who have been reported as affected with this syndrome in medical literature. Characteristic features of the condition are osteoporosis (often at a very young age) and acro-osteolysis. Many other manifestations can be seen, including wormian bones, platybasia, scoliosis, hypermobility, heart defects, and polycystic kidneys. I plan to evaluate the extremely limited existing syndrome-specific educational materials for readability, survey patients to better understand their educational needs, and create an easily understandable educational resource for patients and their families. Working on this project, I hope to gain further insight into patient experiences learning about their diagnoses. I also think this will be a great opportunity for me to practice important genetic counseling skills such as conveying genetics concepts to the patient population. While I still have a long way to go in completion of my thesis project, I look forward to helping this patient population.

-Elizabeth Bombal