Diagnosis: Hunter Syndrome (MPS II)

Country: USA

What makes this individual special, unique and a role model for others?

I am a 23 year-old recent graduate from the University of Richmond in Richmond, Virginia and am currently there pursuing my Masters in Accounting. I have found enduring support in his family and childhood friends that have helped make living with a genetic disorder a definitive non-factor in my life. I am conscious of my condition, but have never let its limitations get in the way of my ambitions and goals. After graduation this spring, I plan to pursue a career as a CPA and work extensively with biotech industry leaders and nonprofit advocacy organizations, such as the National Organization for Rare Diseases (NORD) and the MPS Society, to ensure innovative new therapies continue to reach patients and the voices of young adults living with rare genetic diseases are heard.

Proudest accomplishment

I don't believe I can claim a singular 'proudest accomplishment'. I strive to challenge myself everyday and push beyond my comfort zone. While graduating from college was satisfying, I believe my most memorable accomplishments are yet to come. Real accomplishments take time, dedication, and sacrifice, and I don't feel like I have pushed myself that far yet. I want to make a lasting impact on the MPS community, and my friends and family.

Words of wisdom about living with MPS

I'm not a parent and cannot fathom what it may be like to have a child with an MPS disorder. However, I know my parents were very helpful by never framing challenges through the lens of an MPS patient.

That way it was never acceptable to me to use MPS as a crutch or excuse, and limit my goals before I even knew whether I could succeed or not.

Sometimes my parents and I need to come up with more creative solutions.

For example, we altered a standard button-down shirt to fit my alarm clock’s vibrating attachment in order for it sufficiently shakes me so I wake up in the morning (I'm a heavy sleeper without my hearing aids).

Essentially, don't immediately write off activities or goals as impossible or being dependent on another person. You just may come up with your own way to succeed.

Ayşe Nihan Uğuz