Kimberly's Bone Marrow Transplant
Donation protected
In 2020, Kimberly was diagnosed with a variant of combined immunodeficiency, secondary to compound heterozygous pathogenic variants in the RAG1 gene. Combined immunodeficiencies are a severe inborn error of the immune system where both humoral (B cell mediated) and cellular (T cell mediated) immune responses are compromised and therefore increase the susceptibility of infections of a wide variety and immune dysregulation, such as autoimmunity, inflammation, and lymphoproliferation.
Kimberly's immune dysfunction is reflected in the form of frequent infections with a history of severe pneumonia. She has developed end-organ damage with bronchiectasis, a condition where the bronchial tubes of the lungs are permanently damaged, which allows for bacteria and mucus to build up and pool in her lungs, leading to infection. This stems from her state of severe lymphopenia, low vaccine titers, and poor T and B cell function. She is currently on immunoglobulin replacement therapy, HFCWO (High Frequency Chest Wall Oscillation) therapy, and being treated for autoimmunity in the form of vitiligo, alopecia, and arthralgias.
These conditions are not curable, and can only be treated symptomatically. Eventually, her immune system will begin attacking her other major bodily organs, causing them to fail.
Recently, her team of doctors at John Hopkins and USF Health have connected her with the National Institutes of Health (NIH) in Bethesda, MD, who have enrolled her into a research study on allogeneic blood or marrow transplantation for primary immunodeficiencies. Kimberly will be traveling to the NIH in April or May to receive an experimental bone marrow transplant procedure. The hope is that the "reboot" of her immune system will correct the RAG1 and other immunodeficiency issues, leading to a healthier, more normal life.
She will be in the direct care of the NIH for at least 5 months and be unable to work for at least one year after returning home. This campaign is being set up to help her cover her monthly expenses while she is at the NIH for this potentially life-altering treatment. Any help you can provide for Kimberly is greatly appreciated.
Kimberly's immune dysfunction is reflected in the form of frequent infections with a history of severe pneumonia. She has developed end-organ damage with bronchiectasis, a condition where the bronchial tubes of the lungs are permanently damaged, which allows for bacteria and mucus to build up and pool in her lungs, leading to infection. This stems from her state of severe lymphopenia, low vaccine titers, and poor T and B cell function. She is currently on immunoglobulin replacement therapy, HFCWO (High Frequency Chest Wall Oscillation) therapy, and being treated for autoimmunity in the form of vitiligo, alopecia, and arthralgias.
These conditions are not curable, and can only be treated symptomatically. Eventually, her immune system will begin attacking her other major bodily organs, causing them to fail.
Recently, her team of doctors at John Hopkins and USF Health have connected her with the National Institutes of Health (NIH) in Bethesda, MD, who have enrolled her into a research study on allogeneic blood or marrow transplantation for primary immunodeficiencies. Kimberly will be traveling to the NIH in April or May to receive an experimental bone marrow transplant procedure. The hope is that the "reboot" of her immune system will correct the RAG1 and other immunodeficiency issues, leading to a healthier, more normal life.
She will be in the direct care of the NIH for at least 5 months and be unable to work for at least one year after returning home. This campaign is being set up to help her cover her monthly expenses while she is at the NIH for this potentially life-altering treatment. Any help you can provide for Kimberly is greatly appreciated.
Organizer
Tim Weeks
Organizer
Bradenton, FL