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.
Love, Maria.
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