The morning started out by setting the foundation for genetics and genetic testing. We got to listen to topics around newborn screening and ethics around that. We got to hear about how to tell your child about a genetic condition, and different perspectives around that. We got to discuss the massive genetic information available to us today, but not always having the knowledge on how to interpret the information yet. How much information is good and how do we use that information ethically?
Over the lunch hour, it was time for the Grand Rounds Panel. I had been asked to sit on the panel with two other parents and three physicians. Three large conference rooms were filled with hundreds of clinicians and parents listening to the Grand Rounds Panel. We all got to give our perspective on genetics and genetic testing. I got to talk about the long genetic journey we have been on with Jacob. It took 9 years to publish Jacob’s extremely rare gene mutation in the Journal of Medical Genetics. I talked about what it meant for us as a family to get a firm genetic diagnosis despite the diagnosis not leading to a cure for Jacob. The most important piece is that the disease stops with him. Sarah didn’t inherit the Jacob Gene. She will not carry this disease forward to her children. I talked about what I have witnessed in working with families through Miracles for Mito.The physicians’ stories demonstrated that many of them struggle with what is ethically right. Dr. E’s story from many years back was moving. She is still pondering if she should have done something differently, and how can she learn from that case in taking care of her patients today.
The ethical dilemma that submerged from the Grand Rounds was around how far do you take genetic testing. If one sibling is sick, do you test everyone in the family even if the risk for the disease is not high? What about if everyone in the family in another State gets this information as part of their newborn screening, but here in Colorado the mom of a dying boy doesn’t get to find out if her healthy daughter is a carrier of the brother's fatal disease? It got emotional. It became personal. I wasn't certain until this discussion started if I knew how important it was for me that we were able to test Sarah for Jacob’s gene mutation with no questions asked. And how extremely important that test result was to us as a family. Sarah herself couldn’t care less when we told her, and to this day she doesn’t think about that. Right now boys and babies are not on her horizon. One day, she will be happy to know. That is my strong belief.It was an impactful panel and I left feeling exhausted but alive. I felt I had made a difference, maybe even shifted a few opinions in the room.
I am now on to sharing family engagement strategies to reduce Preventable Harm in San Francisco with Children’s Colorado’s Chief Quality Officer and Director of Family Experience. We will attend a large conference for all Children’s Hospitals in the country. I am excited, and yes a little nervous.