BMFS are rare, complex and highly debilitating diseases. Approximately 160 Australians are diagnosed with BMFS each year and distressingly, most of them are children and young adults. Thousands more are living with ongoing complex health issues. Sadly 50% of people diagnosed, will die from the condition – this is not acceptable. Diagnosis is often slow and difficult due to the complexity of the conditions. Currently the only curative treatment is a bone marrow transplant, which carries inherent risks and complications.