At the Center for Rare Childhood Disorders, it's all about the kids. Center staff dedicate themselves to finding a diagnosis and possible treatments for disorders so rare that many may not even have a name. In episode 42 of TGen Talks, we go inside the Center with Clinical Director Keri Ramsey, who talks about the parents and kids who come to the Center for answers, and how TGen scientists are solving as many of these medical mysteries as possible ... some years after the search began through a special program that brings cold cases to the forefront and offers renewed hope to families in search of answers.
Do you feel as though you’re on a diagnostic odyssey, going from doctor to doctor or hospital to hospital in search of the root cause of your child’s condition? As difficult as it is to watch your children suffer, the lack of a diagnosis adds to your anguish. there are helpful things you can do while you’re on the journey.
Websites, Social Media, and Publications
It can feel as if the weight of the world is on your shoulders. Your sick child needs you. Your partner needs you. Your coworkers need you. It’s no wonder you feel mentally, emotionally, and physically drained. That’s why it’s critical to take care of yourself. You may feel it’s a luxury to focus on your needs, but it’s not.
It’s not unusual that parents of children battling rare and undiagnosed medical conditions have feelings of anxiety, fear, and frustration.
Pinpointing Answers for Children with Rare Childhood Conditions
For children dealing with rare childhood conditions and their families, whole-genome sequencing (WGS) can be a game-changer.
Thanks to an exciting collaboration with the industry leader in sequencing, Illumina, these cold cases will receive a boost through improved technology that enhances TGen’s sequencing capabilities, which will mean more answers for more families.
“At the Center, we’re able to diagnose about 40 percent of our patients. Even though it might not lead immediately to a treatment, there’s a lot of power in attaching a name to their child’s disorder.”