I got that phone call today.
I would love to say that this phone call gave us a direction, a path, answers even, but it didn't. In fact, it did the exact opposite.
The reality of a rare disease is that answers are few and hard to find. What little is known about a rare disease becomes the definitive criteria for diagnosis, medication, and treatment plan. The known gets put in box, and each person must either fit perfectly in that box or you get met with a shrug and an "I don't know".
What I got met with today was that they do not have enough information to definitively confirm a diagnosis, of any kind. She has a few levels that have them really concerned, a handful of levels they want to monitor and some good levels. She will need further work ups and more detailed testing, but they want to wait so, as he said, "we don't perform unnecessary testing when we don't know the full scope of what we are dealing with".
The box that these doctors are trying to get Phoebe to fit into first started to be studied at the NIH in 1990. It wasn't until 1995 that the NIH named this newly identified condition. And as the Fellow said "Immunity is a complex creature. We do not know or understand every aspect of it or the diseases associated with it. We may never know."
I have known from the beginning that we would only be able to treat symptoms as they happen, but telling a mother to sit and watch as her child goes through things is torture.
I explained to the Fellow, doctors do not see what every day life is like for those dealing with illness. All they see is how the patient is doing during an exam. I told him they cannot make a conclusion about a patient's life and how their illness affects them every day based off a brief 10 minute encounter and lab results. Especially when both can change very quickly. As the parent caring for the child, what I say about how she is doing and what she is experiencing should be taken more seriously. Especially since out of the 10,080 minutes in a week, one doctor on average will only see her for 20 minutes, while her family sees her the whole 10,080.