A few weeks ago, I wrote about a patient of mine who is a mystery to me as well as multiple other doctors. Unfortunately, I'm thinking I may be getting closer to the answer, and I don't like what we're seeing. We thought we had found a possible diagnosis, but we didn't think she fit it too well since she was missing one big characteristic. My heart sank when I walked into her room in clinic this week, and I immediately observed her performing this missing piece. There is a gene test that can be performed to assist in confirming this diagnosis, but it is extremely expensive and not performed at our hospital, so we would have to draw her blood and then send it to another lab in another city. We couldn't order the test in good faith knowing that her parents would get the bill when they couldn't even afford a month of one of her medicines that is likely 10% of the cost of this one test, so until we can work out the financial aspects, we will just continue to treat her symptoms. The results of the test will not change how we manage her care, but I know these parents well, and I know in my heart that if I can provide them an answer to why this is happening to their precious baby girl, I need to do that. Right now they still blame her seizure medicines for all the changes that they have seen in her, but I have a dark suspicion that it is something far more than the medicine itself. If it is within my power to do so, I want to be able to give them something more than "I don't know" when they ask what her life holds. If my hunch is correct, there will still be so many times I will say "I don't know," but at least I will be able to provide them with examples of what has happened to other children in the past.
That said, I firmly believe that God works miracles. I have seen more than one child come back from something horrible in ways that no one expected. My own little sister should have died fourteen years ago when she developed a horrible pneumonia and an empyema that was missed for over a week while she was hospitalized. She spent a total of two weeks in the hospital including several days in the pediatric ICU, and the doctors there told my parents to prepare to lose their little girl. Instead, God performed a miracle, and my sister is now a healthy 22 year old college student! I can only pray that He will work a similar miracle in my patient's life. If He chooses not to do so, I know that He has a perfect plan, and I pray that He will provide comfort both to her family as they care for her and for me as I feel helpless to make it all better.
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