Mystery Diagnosis

By Greer Darden

A fictional first-person narrative based upon a typical case of anti-NMDR encephalitis.

Something was happening, what it was exactly is still unclear. Call it a mother’s intuition but something was definitely not right. I would like to say that I know my daughter like the back of my hand, so when the mood swings and sudden aggression started I didn’t know what to think. Was it something at school? Something she wasn’t telling me? I would have blamed it on puberty if it weren’t for the fact that it was still a little early for her. My husband was concerned enough with the mood swings that we even talked about taking her to see a psychiatrist. She had been complaining about headaches and trouble sleeping for the past few weeks but we took it as something that would soon pass. I had no idea that the true problem was actually in her brain.

When I got the call that afternoon, my heart dropped. The school nurse on the phone said that my daughter had had a seizure in class and was being rushed to the hospital immediately. The seizure had passed and the doctors said that she was stable but there was definitely something wrong with my baby girl. Soon all kinds of tests were being done to try to make some sense of it all. Everything from blood tests to EEGs, cat scans, ultrasounds, spinal taps and even “broad-brush tandem mass spectroscopy.”

I was so scared and confused, and the fact that the doctors were just as clueless as I was made it even worse. I sat by her bedside for weeks. Her memory began to fall short. She started repeating herself and her short-term memory was suffering. I was even more worried when it started affecting her movements. She developed a habit of grimacing and constantly made chewing and biting motions. It was as if she could no longer control some of her basic functions. She began to hallucinate and often I’d find her staring blankly into space, in some sort of comatose state. I was loosing my child.

It wasn’t long after this that the doctor came back to us with the term “Anti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis.” It is an autoimmune disease that takes place in the brain and can appear in all ages. He described it as a type of swelling of the brain caused by autoantibodies targeting and attacking the NMDA receptors. It is most commonly found in girls especially in younger age groups and is usually brought on by the presence of tetratomas in the uterus. However there are some cases, like my daughter’s, that arise without the presence of tumors at all.

Finally after thorough consultation we had our answer and the doctors started her treatment plan. Because she is so young she might not respond well to the first line (or method) of treatment in which they use for most adults with the disease. Therefore the doctors had to turn to the second line of treatment, in which “therapy with rituximab, a B-cell depleting monoclonal antibody, and/or cyclophosphamide, an alkylating agent that interferes with DNA transcription.” They told me that the road to recovery would be long, since her diagnosis was so late, but as her mother I am just glad she survived.

 

 

 

References:

Brenton J, Schwartz R, Madoo L. Anti-NMDA-receptor encephalitis: A review. Contemporary Pediatrics [serial online]. July 2015;32(7):14-19. Available from: CINAHL Complete, Ipswich, MA. Accessed September 12, 2015.

 

Update 9/18/2015 – Edited by Paige Jarreau

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