On her first birthday, Dakota was lethargic, running a high fever and vomiting. As her condition worsened, she was rushed to Rady Children’s Hospital where she was quickly admitted to intensive care. Doctors there discovered her kidneys had stopped working but they didn’t know why. When routine tests failed to offer answers, rapid whole genome sequencing was ordered.
Genetic testing pretty much saved her life and we were able to start taking steps forward into her recovery. If we didn’t have that testing, she wouldn’t have gotten the diagnosis in time and she wouldn’t have lived.
On day 3 in the intensive care, WGS reveals a de novo gene variation confirming she will not recover kidney function. Based on the precise diagnosis, Dakota is spared a kidney biopsy, her medication is changed, and planning begins for a kidney transplant
The molecular diagnosis expedited Dakota’s transplant which occurred a month before her second birthday. The transplant was a success and she had a rapid recovery, allowing Dakota and her parents to enjoy Christmas at home.
Today, Dakota is a bubbly toddler who loves playing with musical instruments, family outings and eating cookies!