Maya.

The most beautiful thing about her is her smile. It’s infectious and everyone in her “village” of caretakers wait for it to illuminate their day. Her teachers thank her for it. On bad days, it diffuses the reality of watching her disease progress.

Maya will tell you a joke or make some small, but wickedly insightful comment and the whole time she’ll watch you, waiting for you to smile back, because it makes her day too.

Maya can’t walk without assistance. Her speech is now slurred down. Her family knows that the cells in her brain and major organs are slowly dying.

She will be 13 on June 28th.

Maya does not have the independence of free movement.  Her mind is still strong, but she is dependent upon others to assist with many of the physical aspects of daily life. No matter how difficult things may get, she knows her community and family will be there with her.

Screen Shot 2016-05-12 at 11.26.49 AMMaya has Atypical TPP1/SCAR7, it is a disorder where the gene with the mutations is the TPP1 gene (mutations to this same gene causes late infantile batten disease (CLN2). This gene is responsible for producing a lysosomal enzyme called TPP1.  TPP1 helps lysomes breaks down waste material in the lysosome.

Imagine that the human cell is a small city.  The different parts of the cell do their work and produce waste or garbage.  The lysosome portion of the cell is essentially the city’s sanitation department.  Where the sanitation engineers might pick up garbage on a weekly basis in a person without the disorder.  In people with Atypical TPP1 Deficiency, the sanitation department picks up garbage every two week.  Over time, the sanitation department falls behind and parts of the city becomes damaged.

Something needs to be done, so two campaigns have launched simultaneously in her honor. The first will be one for donations that go directly to Atypical TPP1/SCAR7 research project at the Jan and Dan Duncan Neurological Institute at Texas Children’s Hospital in Houstan, Texas at principal investigator, Dr. Marco Sardiello’s, Lab.

Dr. Sardiello, discovered a master switch in the lysosome.  His research focuses on finding known drugs that can be used to entice the Lysosome to work harder.  We are attracted to his work, because it in theory focuses on the whole body (not just the brain) and focuses on known compounds, which would greatly shorten any FDA approval process.

The link to donate is here, but donations can also be mailed to Texas Children’s Hospital, Development Office, ATTN: Kristen Miller, 1919 S. Braeswood Blvd., Suite 5214, Houston TX, 77030. Mailed donations should include a note stating that the donation is for “Dr. Sardiello’s work at the NRI on SCAR7”. Checks should be made out to “Texas Children’s Hospital”. 100% of  the funds donated directly to Texas Children’s go to the research project.

Still, there is even more we can do for Maya.

The second campaign is centered around the hashtag #fightingformaya.  Using the infrastructure from Booster.com, Maya’s family will sell t-shirts featuring the hashtag.  Booster is a convenient platform, because a portion of the t-shirt price is sent directly to Texas Children’s for the project.  People also have the option of giving a separate donation that goes directly to Texas Children’s.  Booster charges a small credit card processing fee and makes some money from the sale of the shirt.

Screen Shot 2016-05-12 at 11.26.42 AM“Once people purchase a shirt, we ask that every Friday they wear the shirt, take a selfie and post to their favorite social media platforms with the hashtag #fightingformaya,” says Maya’s father, Beau. “ Throughout the summer we will post different challenges for people to fulfill while wearing their shirts.”

“With the t-shirt campaign, we elected to charge the lowest possible amount.  The thought is to drive volume, lower the barrier to meaningfully participate and give donors a fun simple way to make a difference.  Each Friday when a donor wears their shirt and posts their selfie, the initial donation is amplified, making even more of a difference.”

We will follow up each week by highlighting the most creative photos.”

Followers will witness how their relatively modest contributions can play a critical part in making a difference for a very small neglected rare disease community.  On a broader scale, Maya’s family hopes their followers will understand that there are real people in our communities, like Maya, struggling with rare disorders.

Did you have a similar diagnosis? Tell us your story below.

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