I woke up and could feel the darkness weighing down the air. A thick tar pulsed through my veins, and all I could breath was smog. It was the day we got back the first results. After all this time and all this work, I wasn’t sure I wanted the answer.
Our appointment wasn’t until 12:45, but my own personal black cloud wrapped itself around me and came along, burning my eyes and making them tear with every restless thought I struggled to suppressed. It journeyed with us through downtown, to the fountains, over the skywalks, in the cafe, perusing the stores. Moments before the meeting I went to the restroom, knowing the appointment would last at least an hour. I shut the pink stall door, and burning streams began to trickle down my cheeks. There was no crying or sobbing, only water I could not stop. I left the stall a few moments later, the water having ceased. The only sign it had existed was the glowing red transformation of my eyes and the burning ache it left inside me.
Dr R came in solemn. Her own cloud was tethered to her flesh, flowing and expanding behind her. The chair didn’t even squeak when she sat. We began with Joseph. Tragically iron deficient. He was prescribed an iron supplement and retest in three months. Moods and anxiety related to Xq22.1-22.2 but only to be watched. Height, moods and iron all to be watched, but no concerns.
“Savannah’s the one we really need to be concerned with, isn’t she,” the doctor segued. She pulled out a print up of numbers and pendings. Testing has been submitted for over a hundred and fifty degenerative disorders. Fifteen results had come back, all negative. The rest were still pending.
“And if they all come back negative?” I asked.
“Then we do more tests. The next round will be mitochondrial disorders. We have the biopsy.”
A word about Monday’s biopsy. The staff was great; the biopsy was not. The goal is to cultivate Savannah cells to fill a few dishes. They can run many tests after the cells cultivate and after we’ve left. Then they can grow more, test more, freeze some and test later. They will be growing their own Savannah.
Dr R was very grave. “I want you to know what we’re looking for first.” Of course, it was NPC, and the outcome of that isn’t good. She wanted to make sure I understood. Unfortunately, the test will take one of the longest to get back. Savannah’s cells must cultivate for three weeks. There are two tests that will be run and then run again. If there are any red flags, each flag will be looked at closer. It will be almost four weeks from the biopsy before there is an answer. However, if we can get the eyes dilated, we may have an answer Friday. If the test Friday is negative, it does not mean she does not have NPC. If the test comes back positive, it is definite. Dr R was very clear that there are experimental therapies, and while they may prolong the inevitable by a few months, she is not convinced they increase the quality of life. She had to be certain I understood. Unfortunately, I understood, and the black cloud around me tightened.
If it is not NCP, she is testing for other Lysosomal Storage Diseases. The outcome of them all is the same. Again, I assured her I understood.
Then we switched to the hopeful demon’s disease and what to expect. Again the phrase was flat, the words slapped against the heavy air like a board against the edge of a table. “I want to be sure you understand what to expect.” If it is Anti-NMDAR encephalitis or any similar auto-immune brain diseases, infusion therapies must start immediately. I need to find where that can be done in our area and be ready to move. They will be intensive. They will have to be done weekly, at least. They will not be easy. They will not be cheap.
It was over, for now. As long as I understood, Dr R was done. She hated to be the bearer of black news. She was concerned and honest and will continue to do everything possible when we head back home, but I could tell she was ready to be with a patient with a slower moving hourglass. Her mannerisms had changed drastically since our Monday meeting. But I am definitely not complaining. She had spoken in depth to every other specialist we had seen since Monday, as well as the two we were still scheduled to see, and she pulled weighted strings to have an appointment with psychiatry moved up to Friday from July 15th. She was detailed and efficient and honestly a impressively excellence doctor.
I couldn’t blame her for being ready to leave the room. I wanted to leave too.