Art Piece Name:

Program: DHDDS

Frances’ Story: 

Frances loves to be squeezed tightly and to hear jokes. She lives for the opportunity to listen and dance to music every morning when she wakes. Sometimes she sings on the same stage as her parents and blows them out of the water with her extrovert nature and confidence. She often graces them with profound and lyrical genius that is so unique to her. Connecting with other kids makes her happiest of all and her family loves seeing the joy it brings her to make a new friend. 

Her parents started to notice that milestones were not being met and that she had some learning and speech delays, and behavioral challenges around 3 years old. Preschool was difficult for her to attend, then came the discovery she had hypotonia and tremor in her hands. In addition to this, she would also get fevers, vomit regularly and would get debilitating migraines and sleep the whole day. This was often short lived, and she would bounce back quickly, making it hard for anyone to have too much cause for concern.

Unfortunately, with these symptoms seeming mild, she was not diagnosed with a rare disease for almost 7 years. In 2021, at 9.5 years old, Frances started experiencing sudden episodes of collapsing to the ground, accompanied by fluttering eyes and slumping over. Her arms would sometimes jerk. This got progressively worse, and an EEG was done confirming myoclonic, atonic, and absence seizures. Genetic testing was advised, and she was diagnosed with a rare mutation in the DHDDS gene shortly after.