My birthday was Saturday which in rare disease world equates to the obligatory fundraiser. This year, I am celebrating a success along with our faithful donors that have made this moment possible. Last December, many gene therapy projects were mostly halted due to social distancing measures. Days continued to pass for children that do not have days to spare and we decided to test known, FDA approved compounds against SLC6A1. In short, we were hoping for a medical breakthrough. We started with our best guess and it was right. Maxwell began the drug recently and we are seeing an improvement. This drug is not a cure – it is not gene therapy. But we are hoping it is a tremendous crutch as we round the final corner in fundraising for gene therapy. This moment (video below) would not be possible without all of you. Our selfless, empathetic donors made this trial happen. We have 10 kids on the drug throughout the world and we are so thankful. Thank you for providing more smiling days between children and their families. Thank you for allowing us moms to give our children a fighting chance. With gratitude, Amber
Categories: Community
SLC6A1 Gene
I am a mother of a beautiful boy with an SLC6A1 mutation and I am dedicated to finding the best treatment possible for my son.
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