The story of Bianca
Serafina was diagnosed with the very rare TBL1XR1- related disorder, as a result of a spontaneous genetic mutation, just shy of two years old. At the time of her diagnosis we were scared of what to expect since there is very limited information on her disorder. However, our focus has shifted to raising awareness, advocating for her and others with rare diseases and/or disabilities, and helping her progress as much as possible. We’ve also found the importance of finding a community of those affected by similar rare disorders for support and understanding during the lifelong process of learning about our daughter and this disorder.