Fighting For Maya

We are very excited to announce, that after several months of investigation, we have decided to fund a four year research project at the Jan and Dan Duncan Neurological Institute at Texas Children's Hospital, in Houston, Texas. We have spent considerable time collaborating with Dr Marco Sardillo, the Principal Investigator, a his team to design a research project that is intended to directly benefit Maya and people with similar disorders. We would like to invite you to help support this research project and raise awareness by purchasing a "#fightingforMaya" t-shirt and more importantly to wear it every Friday.
In 2014, Maya was diagnosed with Atypical TPP1 Deficiency. While TPP1 deficiencies are typically associated with

Late Infantile Neuronal Ceroid Lipofuscinosis 2 (CLN2), a form of Batten Disease, a subset of cases has been described as milder, which can be explained by the comparatively higher residual activity of TPP1 in Atypical TPP1 patients compared to CLN2 patients. Atypical TPP1 Defficincey and CLN2 are caused mutations in the TP1/CLN2 gene resulting in deficiency of the enzyme tripeptidyl peptidase 1 (TPP1). In the absence of TPP1, lysosomal storage materials, normally metabolized by this enzyme, accumulate in many organs particularly in the brain. Buildup of these storage materials in the cells of the nervous system contribute to progressive and relentless neurodegeneration which manifests as loss of cognitive, motor, and other functions. Patients typically present initially with language delay followed by movement disorders, motor deterioration, dementia, and early death. During the later stages of the disease, feeding and tending to everyday needs become very difficult. Currently, there is no cure for TPP1 ficiency or CLN2. www.fightingformaya