Rachel Harvey

I am supporting Jeans for Genes because we have a 15 month old daughter Charlotte who after being born prematurely and very sick had genetic testing done. They discovered she had a gene mutation in the RPL15 genome and that there was a disease called Diamond-Blackfan Anemia that was associated with her gene mutation. Charlotte is only the 6th documented case in the world with the RPL15 mutation so there is not a lot of research and evidence to give us information regarding Charlotte’s future

Diamond-Blackfan Anemia effects your body’s ability to produce red blood cells and is often referred to as anemia of the bone marrow. Patients with this condition require regular blood transfusions, bone marrow transplants and/or steroid therapy to stay alive, and often end up needing iron chelation therapy due to regular blood transfusions overloading their livers with iron. People with DBA have an increased risk of developing blood cancers due to their malfunctioning bone marrow.

While Charlotte displays most of the physical abnormalities we have been fortunate so far that she has not yet struggled to maintain her hemaglobin levels so has not needed regular blood transfusions but it is something we are acutely aware that she may need to further down the track.

I want to help discover treatments and cures, to give every child the opportunity to live a long and healthy life

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