It feels a little like we’ve spent Cate’s entire life waiting for the other shoe to drop. When she was hospitalized as a baby, we didn’t think we’d ever bring her home.
At 2 months old, Cate was clinically diagnosed with Diamond Blackfan Anemia (DBA) because she could not produce enough red blood cells. Blood donors kept her alive through transfusions every 2-3 weeks for over a year. She took her first steps in the Cancer Clinic at Blair E. Batson Children’s Hospital. Later, St. Jude Children’s Research Hospital found that she has an EFL1 mutation that is associated with another bone marrow failure disorder, Shwachman-Diamond Syndrome (SDS).
She’s genetically diagnosed with a Telomere Biology Disorder because 5 of 6 cell populations have telomeres less than one percent of the length that they should be.
She has also been diagnosed with Thrombocytopenia because she now she no longer produces enough platelets. As a baby, she was diagnosed with Neutropenia because she didn’t produce enough of the white blood cells to fight infections. Her bone marrow has simply never been able to keep up with her body’s needs.
Name a specialist, and we’ve probably seen one.
In late October of this year, Cate's routine bone marrow biopsy revealed a TP53 mutation suggesting a developing malignancy.
This mutation allows cancer cells to multiply uncontrollably, and because many cancer therapies work by targeting TP53, very few treatment options exist for patients like Cate who develop this mutation.
Last week, Cate had further testing at St. Jude. If those results confirm her biopsy findings, she will urgently require a bone marrow transplant before a malignancy develops. Once a full malignancy develops, her treatment options become extremely limited and her survival chances decrease significantly.
Why Register?
Every 27 seconds, someone in the world is diagnosed with blood cancer or blood disorder. For many, a blood stem cell transplant is the only chance to survive, but finding a matching donor can be incredibly difficult. Joining the stem cell registry adds to a global movement where every new donor increases the chance that a patient in need of a blood stem cell transplant finds a lifesaving match.
Everyone has something unique to offer. Tissue characteristics can indicate the perfect match for someone in need of a stem cell transplant.
Everyone between the ages of 18-55 in general good health, with a BMI under 40, and not already registered can sign up as a potential donor.
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