One of my mantras as a physician is that while I can never truly know exactly what another person is experiencing, I should always strive to understand and empathize. So please know how deeply I feel for you all.

One of the first times we met, you said that you felt like you were on an odyssey. That word “odyssey” really captures the essence of everything through which you have been going all these years. It also, regrettably, encompasses where we are at presently with respect to finding the help your children so greatly need. We really are in uncharted territory, where our understanding of the basic underpinnings of their illness is incomplete. Because of the striking similarities in symptoms among the three of them, we strongly suspect that that fundamental underpinning is genetic; however, because we do not have a solid understanding of the genetics of many autonomic disorders, we do not have a specific gene for which we are looking (the one gene that was suspected and sequenced previously, SCN9a, was normal).

As such, we may not have a thorough understanding of how their suspected abnormal gene functions and causes disease. Until we can clarify that basic principle (what gene is affected, in what way, and how does it cause illness), we will have a difficult time providing a specific therapy for their symptoms. And until we can do that, our attempts at therapy may be off target: some medications may be more helpful and some may be less helpful.

Nonetheless, this uncertainty does not mean that we shouldn’t try. We need to be mindful that some medications and therapies carry significant risks and shouldn’t be considered lightly unless there is clear evidence that they could be helpful. That is one thing that I can imagine being incredibly frustrating: wanting something, anything that could help your children, yet running up against providers who are hesitant.

I am sorry. Sorry for everything you’re going through. Sorry we don’t have an answer yet.