“As a bereaved parent, you want the data to come back to you with answers. I want to know one day that they have figured out exactly what happened and what her diagnosis should have been overall and that they can treat and cure another child in the future.” This is a quote from Kynslee’s mom, Kirsten when asked about the importance of data.
Kynslee was diagnosed with large B Cell Lymphoma in September 2017. Prior to getting diagnosed, she had other health conditions which made her story complex. At eight months old, Kynslee was diagnosed with neutropenia, a low white blood cell count. Kynslee was also diagnosed with a chronic EBV infection and a lymphoproliferative disorder.
Since Kynslee had an unknown immunodeficiency, it made her unresponsive to chemotherapy. Doctors tried various protocols before sending Kynslee in for a bone marrow transplant in August 2018. There was no data to show how to treat Kynslee, so doctors did the best they could. By the end of September, she was experiencing trouble breathing and scans revealed that her new stem cells were attacking the cancer. Kynslee was put into respiratory distress, intubated in the PICU on October 3, 2018 and remained sedated until she passed away on November 20, 2018.
Kynslee’s case has been reviewed by three major hospitals which have researched her specific immunodeficiency and gene mutation as it relates to her cancer. Without the data, doctors were not able to accurately treat her. Interestingly enough, Kynslee’s sister and father also have a genetic mutation called NFKB1. Nuclear Factor Kappa B Subunit 1 is a protein coding gene and currently a study is being done on a patient in Germany with the same deficiency and cancer. Since this patient decided they would share the data, more information is coming out about this particular diagnosis.
Kirsten said, “I encourage parents to advocate for their child. If you don’t agree with the doctors, don’t be afraid to get another opinion. You MUST advocate for your kid. Some doctors will come in thinking they know everything, but need to step back and look at the bigger picture.”