As many of you know, Parker has had a long journey with ucommon congenital muscle disease. He was diagnosed with Ullrich's when he was just under three years old. Several years later, when Parker was about nine years old his doctor challenged that diagnosis and was on a mission to find the real mucle disease that we were dealing with. Over the next couple of years we made a couple of trips to the NIH (National Institute of Health) in Washington, D.C. to try and get a corrected diagnosis. When we returned for our last visit in April of 2019 they were able to positively confirm that Parker was one of four known cases with recessive Desmin Myofibrillar Myopathy. Also, during that same visit, we found that the disease was attacking Parker's heart and he was in the early stages of heart failure. Over the last year his team of doctors and nurses have been working tirelessly to help him. His genetic neurologist, Dr. Chamindra Konersman, has found a way to potentially block one of his "broken" genes. If they can prove this to be a success in mice then we could be able to move forward with a treatment for Parker. This gene therapy is cutting edge technology and this thereapy would be developed for just Parker.
There is a mouse with his specific gene mutation that has already been donated to the project! Serepta Pharmaceutical has agreed to pay for the develpment of the drug, which is a huge blessing as this is a multi million dollar project. We just need funding for the man hours for the research being done on the mice at UCSD. Dr. Konersman has already applied for some grants so we are hoping that at least some of them are awarded. But we have also been asked to start fundraising to kep with the estimated $150,000 that it will cost to pay the lab researchers at UCSD. We have set a goal to help with half of the costs.
We know that this is a lot to ask for, especially during these very unsual times, but we also know that individually we are remarkable, but togehter we are unstoppable!
Our family and our team is so thankful for your continued love and support. Thank you so much for considering supporting this very special cutting edge project that could change the world of genetic diseases.
With much love and adoration,
The Mayorgas Family and Team Muscle Makers