Our journey for obtaining a diagnosis was long and challenging, partly because
Alexander was doing so well.
We began in 2013 at Baystate Medical Center in Springfield Massachusetts, then to U Mass Memorial Medical Center in Worcester, MA. Tests for suspected diseases revealed no genetic abnormalities. Later we pursued investigations at Boston Children's Hospital, from which we were referred to the National Institute of Health (NIH), where Alexander participated in a research study. There the genetic mutation was identified in May of 2016.
The news of this genetic mutation and its expected outcome, was devastating for our whole family, our school and our community. It was inconceivable for a wonderful boy with such potential to rapidly decline and die.
Our search for existing treatments and clinical trials, was nonproductive. We were led to believe that because of the rarity of the mutation, there will likely never be any treatment or therapeutic intervention.
Once we learned that existing health institutions and rare disease organizations, do not offer any research or funding for research for this condition we changed our approach.
As soon as we had the diagnosis, my husband and I began an intensive effort to get informed about Bag3 related Myofibrillar Myopathy and other related conditions. We researched muscular, neurological, cardiac, pulmonary and other diseases that seemed to be related.
We sent e-mails with our story, Alexander's Story, to researchers and scientists throughout the world and contacted many universities and teaching hospitals. Our intent was to raise awareness about this disease and gather support in the scientific and medical community to create a cure.
The first scientist who responded to our call for help was Monte S. Willis, M.D., Ph.D., M.B.A. He was encouraging regarding the progress that was being made to help patients with Bag3 associated myofibrillar myopathy.
Dr Robert Bryson-Richardson, PhD.
Dr Bryson-Richardson, PhD,Senior Lecturer, School of Biological Sciences, Monash University, Victoria 3800, Australia.
Dr. Robert Bryson-Richardson's research focuses on neuromuscular disease. It utilizes the zebra-fish model system to identify the genetic causes, pathological mechanisms, and potential therapies for these diseases. His team investigates a wide range of disorders with myofibrillar and nemaline myopathies being particular areas of focus. He studied Human Genetics at the University of Nottingham UK, before moving to the Medical Research Council’s Human Genetics Unit in Edinburgh UK to complete his PhD and begin his work using the zebra-fish model system. He completed his PhD in 2003 and continued his research at the Victor Chang Cardiac Research Institute in Sydney Australia and the Australian Regenerative Medicine Institute at Monash University in Melbourne. He joined the School of Biological Sciences at Monash University as a lecturer and principal investigator in 2010.
Dr Avnika Ruparelia, PhD,
On the team with Dr Bryson-Richardson is Dr Avnika Ruparelia, PhD, Post-Doctoral Fellow.
Avnika completed her PhD at Monash University where she began investigating myofibrillar myopathies. She explored how mutations in BAG3 and Filamin C cause myofibrillar myopathy. She worked as a post doctoral researcher in the Bryson-Richardson lab investigating BAG3 related myofibrillar myopathy and testing potential therapies. We are grateful to Dr. Bryson-Richardson, and Dr. Ruperalia for the first steps to find a treatment for MFM6.
Aside from the research teams lead by the researchers named above, we located others here in the US, as well as in the Netherlands, Germany, Hong Kong, and Japan. All of these teams, have shown interest in exploring the Bag3 genetic mutation.