Our family at this time last year, with Bertrand in the midst of his ACTH treatment.
Our family is participating in a research study being conducted by Duke University scientists: "Genomic Study of Developmental Delay and Congenital Anomalies of Unknown Etiology".
This is a landmark study that's using the full genomic sequencing of our family to determine the genetic nature, if any, of Bertrand's condition.
We were asked to provide a family perspective, on why we chose to participate in the study and what we hope to get out of it. This was our response:
Uncertainty inflicts a crippling emotional tax on parents as they watch their child suffer from an undiagnosed disease.
Can you imagine the unyielding second-guessing over whether your child's agony was your own fault or an act of chance?
Can you imagine wanting more children, yet never knowing whether it would be safe or responsible to have them?
Can you imagine being ashamed at your own jealousy over parents whose children have a terminal yet *named* disorder?
Can you imagine feeling that you can't do the right thing for your child because the information you need seems hopelessly beyond your grasp?
We haven't had to imagine. This is our reality.
We had taken our son Bertrand to dozens of hospitals and dozens of specialists.
His blood has been drawn so many times for so many tests that the scarred and needle-worn veins in his arms now offer no more than droplets.
We had given up hope of ever finding a diagnosis for our son.
The hypothesis has been that he was a de novo mutation, and likely the only one of his kind--firmly beyond the reach of modern medical diagnostics.
When Duke contacted us about the chance to participate in this study, we realized that this was the cutting edge science necessary to push modern medicine out to our son.
We know that the outcome of this study will not cure our child.
But, there is good reason to believe that it is our best and only chance at getting the information we need--the information to bring closure, peace of mind and the knowledge that we as parents are pursuing the best possible treatment for our child.