Website - www.curespg47.org
Cure SPG47 was founded in 2016 by the families of two newly diagnosed patients, Molly and Robbie, pictured above. At the time, we were aware of 9 other documented cases of SPG47 worldwide, none of which were located in the United States. The fact that these two families found each other through Facebook might be considered something of a small miracle.
Coming to terms with an SPG47 diagnosis for our children has been particularly difficult. Realistically, we understand that many researchers, donors, and drug makers will choose to focus their efforts on more mainstream diseases. Yet the clock is ticking rapidly for our families, and without intervention, their disease is expected to progress towards paraplegia or quadriplegia, with irreparable cognitive impairment, over the coming years. Despite the odds, we refuse to accept the prognosis or to give up on our children.
While our children struggle with mobility and fall behind their peers verbally, they THRIVE when it comes to personality and perseverance. Joyful smiles come so easily to them. Their lack of frustration at their communication and physical limitations is truly remarkable. Each milestone is celebrated exuberantly, even while we live in fear each day that muscle spasticity will set in, leading to paraplegia or quadriplegia.
We are driven to raise funds to direct towards the most promising scientific research. Our goal is to tip the odds in favor of all SPG47 patients, giving them a chance at a high quality of life which will not be attainable without intervention through revolutionary treatments.
Cure SPG47 has partnered with a great team of scientific experts and we currently have two research programs that are ready to begin. One is gene replacement therapy study that is going to be run out of the University of Sheffield in England. With this technology, the hope is that they will be able to replace the non-functioning DNA with working DNA and halt the progression of the disease.
The second is a Induced Pluripotent Stem Cell (IPSC) study where they will be taking stem cells created from each of the families and testing them against pre-approved FDA drugs to see if they can produce a desired result of increased protein production.
Both of these studies are extremely promising for our children, however, they are also very costly! ALL of the money raised from the 2018 "Golf for a Cure" Tournament will go directly to fund these research programs and we truly appreciate all of your support!