The good news, the bad news

I always start with the good news. Always. Today we received news that the flattening of Amelia's optic nerves (a sign of damage) is gone since the latest spinal tap. Her optic nerves also look very healthy on the MRI brain scan, and the channels that drain fluid around the brain stem are completely open. They had previously been partially blocked by her swollen brain stem. Her MRI is, in fact, completely and totally normal for the first time since October. It appears that she suffered two distinct demyelinating events, one in October, and another in November. This does not yet meet the criteria for multiple sclerosis, so, at least for the time being, that has been eliminated as a potential diagnosis.

Her spinal tap did indeed reveal high pressure in her spinal column. As yet we have absolutely no explanation as to why that is persisting. Pseudotumor cerebri was ruled out as a potential cause because of how healthy her optic nerves currently look. She certainly does not need a shunt to drain the fluid off her brain, as the most severe symptom of increased pressure she is showing at this point is severe headaches.

Now for the bad news. First, we don't have all the results back on the blood tests and the spinal fluid cultures. So various genetic diseases and an ongoing, chronic infection are still possibilities. As I held Amelia through her EEG yesterday, I prayed that seizures would be blatantly obvious in her brain waves if that is what she is suffering. Unfortunately, I got the answer to my prayer. Amelia is showing "spike" seizure activity in the central part of her brain. This means she isn't having the grand mal seizures, which cause generalized twitching, loss of consciousness, and sometimes loss of bladder/bowel control. That is a "classic" seizure. She is suffering atypical, or focal/partial seizures that involve only one part of her brain - the part that controls balance, speech, eye movements, and is the pathway for higher order brain function like contemplation, behavior control, abstract reasoning.

She had 10-12 episodes in the hour and 15 minutes she was observed. This was supposed to be a baseline study, and wasn't expected to reveal any seizure activity at all. The doctor was surprised - and pleased! - to have so quickly and easily found an answer to what is going wrong with Amelia's health right now. To tell the truth, my shoulders feel much lighter this evening. The official, working diagnosis is epilepsy, a type of partial epilepsy that develops after the covering of the brain is irritated by infection or inflammation. The theory is that Amelia had a severe viral encephalitis in mid-October, followed by a major demyelinating event (ADEM) in late October, and a second demyelinating event in mid-November. All of that caused her to develop partial seizure activity, which will probably last anywhere from 2 years to a lifetime as a result of the damage to that part of her brain.

The symptoms of Amy's seizures are very mild. They start with irritability and inability to function or cope, followed by changes in balance and leg coordination, twitching in the eyes or crossing of the eyes, and finally nausea and vomiting. She has had 9 episodes so far that have developed into a full-blown seizure event that involves her laying, rocking her head from side to side and grunting rhythmically, during which I am totally unable to arouse a response.

The plan is that we will hospitalize Amy in the end of March or beginning of April for 72 hours of video EEG monitoring, which should give the doctor much more seizure activity to observe and influence his treatment decision. He did suggest beginning treatment immediately, but Aaron and I both feel the treatment has side effects severe enough that we would like more diagnostic testing first. We have to balance the need to confirm the diagnosis with the knowledge that prolonging treatment could also prolong healing time.

Thank you for your prayers. At this time, the hospital stay is the only other diagnostic test planned. The doctor stated he is between 95 and 99% sure that he has a definite diagnosis of epilepsy. While it is hard to think of our daughter having a chronic, potentially debilitating disease that will require daily medication, it is such a relief to know what is wrong, and that it is probably not life threatening at this moment. It was also such a relief to both Aaron and I to have a doctor find a specific cause - we are no longer the overly paranoid parents running from one doctor to the next. We were right, there is definitely something wrong. I feel as though we have finally found someone able and willing to help sweet Amelia regain her normal function and start progressing forward again instead of regressing.