The story of Stacey
My 20 month old daughter Clara, who is the light of our world, was recently diagnosed with Progressive Myoclonic Epilepsy 6- a recessively inherited genetic condition involving a mutation of the GOSR2 gene. There are only 12 other known cases globally, making Clara lucky #13. She may actually be a completely unique case as she is the only known case to have a hetereozygous mutation (her dad and I have different mutations on the same gene) whereas the other 12 cases were homozygous (same mutation). She is also the first case to present with a congenital myopathy resembling that of a muscular dystrophy, although no diagnostic tests have given us any results other than PME6. There are no treatments, other than treating symptoms as they come, no clinical trials, no real awareness, and no support groups for this particular type of PME. We just have to take it one day at a time and hope for the best! Rare disease research and awareness is so crucial, and I can only hope that someone stumbles across something that could potentially treat PME6.