The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.
Rachel Wiese, Director of Communications for Takeda’s Vaccine Business Unit, lives with a rare condition called Usher syndrome.
Usher syndrome is a rare genetic disorder primarily characterized by deafness due to an impaired ability of the inner ear and auditory nerves to transmit sound to the brain, accompanied by retinitis pigmentosa, a disorder that affects the retina and causes progressive loss of vision. Usher syndrome affects approximately three to 10 in 100,000 people worldwide.1
Rachel’s story illustrates a common frustration for people living with rare diseases: the many trying years it can take to finally receive a diagnosis. And once diagnosed, it can still be difficult or impossible to receive effective treatment options. The timeline below helps us understand how rare disease has impacted Rachel over time. Note the long periods of uncertainty and the time from symptom onset to diagnosis.
Today, Rachel has accepted that she has Usher syndrome and is making peace with the prospects of her uncertain future. There remain no treatment options for her and no way to know exactly how her vision and hearing will deteriorate in the next several years. One of the biggest challenges now is managing how other people see and treat her – making assumptions about her when she stumbles, walks into walls and objects, or accidentally snubs a handshake. Thankfully, Rachel has a strong support system including her husband, family and friends that understand her needs.
Not all disabilities are visible, and rare ones in particular can elicit judgment or misunderstanding from others. For Rare Disease Day, and every day, Rachel encourages others to broaden their perspectives and recognize that there are more people living with rare diseases than most of us can imagine.
Assume the best, avoid assumptions, and seek ways to understand the millions with rare diseases like Rachel.