Doing what I can

When my grandson was born with CPT2, I watched his parents' confusion and grief and experienced a helplessness I never knew before. What could I do? I am not a doctor, much less a geneticist. In my 60s, I'm far too old to go back and become one. All I could do was watch, cook a meal, stay with the older kids and hope for the best. Over time, I realized there was something I could do. I could explore the known science and share that with families such as mine.

Out of this experience, my book, Genetic Mistakes, was born. Now that it is in publication, I find I can still do more. The research on this topic is ongoing and, as a science writer, I can make this accessible to those who need this information. No, I am no doctor or researcher, but my strange skill set is uniquely suited to helping families navigate this complex subject.

I will report here on papers I find on fatty acid oxidation disorders. I can't promise that I will report on all the ongoing research, but I will attempt to find those papers with the most impact on families affected by any of these disorders. I will do my best to make the science understandable and I am open to questions about what I have written or any issues associated with the topic. Just keep in mind that I am not in a position to make medical recommendations and my comments must be understood to be a mere reflection of the research on which I report.

I encourage all of you to do whatever you can in whatever situation you find yourself.

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