Maddie’s Vision is the only organisation in Australia dedicated to supporting patients and families living with Bone Marrow Failure Syndromes.Learn more
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Hear how genetic testing was able to show the best treatment path for young Zak: a pre-emptive bone marrow transplant. Recent advances in genomics testing are saving lives. Stories like Zak's highlight why Maddie's Vision is so focussed on funding medical research and clinical trials that will deliver answers to patients sooner.Learn more
For many patients with Bone Marrow Failure Syndromes, there are few options for treatment available if they aren’t eligible for a bone marrow transplant.
Rob, a 69 year old patient was diagnosed with Aplastic Anaemia. Unfortunately Rob was not able to receive a bone marrow transplant due to his age. He was accepted into the DIAAMOND –Ava First Trial – a Medical Research Future Fund supported clinical trial that uses the infrastructure of the Maddie’s Vision funded Aplastic Anaemia and other Bone Marrow Failure Syndrome Registry to investigate the safety and efficacy of Avatrombopag, a new agent that stimulates production of blood cells for the treatment of severe Aplastic Anaemia.
This is the first trial of a new therapy in this condition to be conducted in Australia for decades. The patient has responded well to the treatment. In the patient’s words, Avatrombopag was ‘literally a life saver’
While Bone Marrow Failure Syndromes are complex and challenging to diagnose, it’s vital that patients receive an accurate diagnosis as soon as possible to receive the right treatment.
After a 10-year-old patient was initially diagnosed with Myelodysplastic Syndrome based on bone marrow aspiration, the patient was referred to Maddie’s Vision Centre of Research Excellence executive member Dr Lucy Fox for genomic investigation as part of the Maddie’s Vision funded EMBRACE clinical trial.
Dr Lucy Fox confirmed a different diagnosis of Schwachman Diamond Syndrome, which requires a different treatment plan than Myelodysplastic Syndrome. Thanks to Dr Fox and the EMBRACE trial, the patient is now receiving the right treatment and care.
Funding from Maddie’s Vision made this crucial investigation possible.
When Anna’s daughter Zahra was diagnosed with Severe Aplastic Anaemia and then Myelodysplastic Syndrome, she found the support from Mei Ling invaluable.
“What would we have done without Mei Ling? Once Zahra was diagnosed with Aplastic Anaemia, Mei Ling gave us a call not long after we returned home from her first hospital admission. We began our weekly check-ins with Mei Ling, who was able to provide more detailed information about what the medical team would tell us; particularly the medications and any symptoms or side effects Zahra was having.
As we were new to this world, there was a lot we didn’t know. We didn’t know what to ask or where to look for trustworthy information online. Mei Ling has a wealth of knowledge, and provided us with more reading material which allowed us to be more informed as we got closer to treatment for Zahra.
Mei Ling also became a friendly voice on the other side who we were able to connect with, as she knew about Zahra’s condition and what it meant. It was difficult as a lot of family and friends, whilst extremely supportive, were not able to fully support us in the way that people in the medical world could.
We were lucky enough to meet Mei Ling in person whilst Zahra was in the bone marrow transplant ward, and she looked after not only Zahra, but us as well. She became part of our family.
Post-transplant, Mei Ling has continued to check in. She understood that the journey had not ended, and that the emotional and mental effects of Zahra’s diagnosis and treatment had started to rear its head. She has continued to provide further support in dealing with some of the symptoms Zahra developed post-transplant and reassured us during stressful periods when we waited for a call from the hospital.
Mei Ling has been, and continues to be, a big part of the journey.”