Our family has become educated in the rare disease community, and with that education we have been able to find our voice in advocating not only for our children, but for other families as well.
We wholeheartedly believe that newborn screening is an essential aspect of our children’s health. Since newborn screening was able to asses Pompe disease in our youngest daughter, we were able to move forward with that knowledge and have our other children tested as well. Knowing that three of our children have a rare disease that currently has a treatment option, but not a cure, has inspired us to approach their healthcare proactively. Our family has become educated in the rare disease community, and with that education we have been able to find our voice in advocating not only for our children, but for other families as well.
