Sophia's TBCK journey
Donation protected
Sophia is a beautiful 2 year old, born with a rare recessive autoimmune genetic disorder called TBCK. The GTCC nursing class of May 2020 is sponsoring this family. We are trying to help them raise money for the first annual TBCK research convention. We are also wanting to raise awareness for Sophia, and children like her with TBCK.
Wonder why I placed such an emphasis on the word rare? Sophia is 1 of only 40 documented cases in the entire WORLD to have TBCK!!!
TBCK is association with slowed mTOR function (a biological pathway). The mTOR pathway helps to regulate cell metabolism, growth, proliferation, and survival. Abnormalities in the mTOR pathway are associated with brain abnormalities, intellectual disability, epilepsy, and autism.
We are so moved by her story, and can't fathom what it is like to be a 2 years old suffering from this horrible disorder.
You can visit the official TBCK website to learn about the other families of you would like.
I have also attached the link to Sophia's facebook page and a YouTube video with the family below.
https://www.facebook.com/TBCKSyndrome/
https://m.facebook.com/story.php?story_fbid=10214932911261685&id=1395300349
Wonder why I placed such an emphasis on the word rare? Sophia is 1 of only 40 documented cases in the entire WORLD to have TBCK!!!
TBCK is association with slowed mTOR function (a biological pathway). The mTOR pathway helps to regulate cell metabolism, growth, proliferation, and survival. Abnormalities in the mTOR pathway are associated with brain abnormalities, intellectual disability, epilepsy, and autism.
We are so moved by her story, and can't fathom what it is like to be a 2 years old suffering from this horrible disorder.
You can visit the official TBCK website to learn about the other families of you would like.
I have also attached the link to Sophia's facebook page and a YouTube video with the family below.
https://www.facebook.com/TBCKSyndrome/
https://m.facebook.com/story.php?story_fbid=10214932911261685&id=1395300349
Fundraising team: GTCC ADN class of May 2020 (3)
Mickey Thompson
Organizer
Jamestown, NC
Nicole Stusick
Beneficiary
April Oakley
Team member
Brianna McQueen
Team member