Art Piece Name: ‘Floating Family’
Program: DHDDS
Frances’ Story:
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.