When tomorrow is filled with uncertainty, we learn to make the most out of each day.
Katie Stevens begins with the personal story of her son’s diagnosis with Dyskeratosis Congenita (DC), a rare genetic disorder. But she ends with a feeling of hope and confidence.
Katie is the president of Dyskeratosis Congenita Outreach: dcoutreach.org.
Katie tells us about the diagnosis of her son before he was a teenager. Because genetic testing didn’t seem necessary, his DC was diagnosed as bone marrow failure, a key symptom. After her son’s DNA sample was sent for genetic testing in Canada, they finally had the diagnosis of Dyskeratosis Congenita. The resulting issues of this disorder are multisystemic, so until recently most patients died of DC in childhood.
The life of Katie’s family changed after this diagnosis. After connecting with other families with DC, she found the newly formed organization DC Outreach, which both serves to spread awareness and research of this rare disorder, and seeks to build community among those affected by DC.
It is the second part, the community-building, that Katie is most proud of. Previously a stay-at-home mom, now serving as the president of an organization uniting those affected by a rare disorder. The medical and scientific research is a very important part of this organization’s purpose; but learning how to best live, on a day-to-day basis, when whatever problem you face is overwhelming…well, Katie knows how important that is.