Maya is very much a typical pre-teen who loves Meghan Trainor and Taylor Swift. However, in May of 2014, Maya was diagnosed with a rare disease called Atypical TPP1 Deficiency (aka SCAR7). Atypical TPP1 Deficiency is a subset of Late Infantile Neuronal Ceroid Lipofuscinosis 2 (CLN2), a form of Batten Disease. At the time of her diagnosis, Maya was one of eight reported cases in the world. Since her diagnosis, we have learned of ten other people with this disorder.
Atypical TPP1 Deficiency and CLN2 are caused by mutations in the TPP1/CLN2 gene resulting in deficient activity 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 diseases, feeding and tending to everyday needs become very difficult. Currently, there is no cure for TPP1 Deficiency or CLN2.
In May of 2016, the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital in Houston, Texas announced the commencement of a new research project to explore treatments for Atypical TPP1 Deficiency. This project is dependent upon Maya’s friends and family for funding.
- To help fund the research project and to raise awareness about Atypical TPP1 Deficiency we ask that you make a donation directly to Texas Children’s Hospital. You can do so by giving directly to Texas Children’s. If you donate from this page, funds go directly to the research project for Atypical TPP1 Deficiency/SCAR7.
- We also ask that you order a #FightingForMaya T-Shirt. You can do so by going to Booster.com. Once you receive your shirt, we ask that every Friday you show that you are #fightingformaya, by:
- Wearing your shirt
- Taking a Selfie
- Adding the hashtag #fightingformaya
- and sharing your pic with the world.
Go crazy, be creative and have fun!!!
“The most beautiful thing about her is her smile. It’s infectious…”
Image via RareDaily.
Thank you for helping to show Maya and others that you stand with them in the fight to find a treatment and cure for Atypical TPP1 Deficiency.