Tuesday, May 09, 2006

Diagnosis: Inconclusive

Monday was a trying day for our daughter. She was to undergo an MRI of her brain at a time in the afternoon that would be determined by other higher-priority cases before her. She was not allowed to eat solid food all day. The time of her appointment was pushed back several times. When the time finally arrived, she was put under general anesthesia so she would not move during the procedure, which lasted approximately 45 minutes. The short duration did not give her time to deal well with the anesthetic, and she was very upset when she awoke in the recovery room.

The nurses had left an IV in her arm for the tests that were to commence the following morning, and in her post-anesthesia delerium she tugged at it furiously in protest of the intrusion. After she regained consciousness, we explained that she could either leave the IV alone or have the nurses remove it and stick her again the following morning. She opted for the latter. When the needle was removed, it was obvious that her thrashing had bent it so much it wouldn't have functioned the next day anyway. Her appetite came back shortly before 9:00 PM and she enjoyed a dinner of quesadillas and a movie before bedtime.

When she awoke this morning, she had to continue without food or drink until 9:00 AM in order to undergo a fasting blood test. She did well under the circumstances, we had our regular morning routine and she even went to PT/OT before her sample was collected. True to her word the night before, she didn't protest the needle stick very much and the procedure went quickly. Afterward we had breakfast with a speech pathologist who confirmed what we already knew: that her speech, cognition, and feeding are unimpaired by this event.

After breakfast she returned to the gym for another PT session, this time together with the music therapist. He couldn't convince our daughter to play the keyboard ("Mom says I have to read from the staff instead of playing from memory, and I don't have my music books!") but she did play the drums, and his playing and singing made her PT games a bit more enjoyable. Her coordination and strength in her legs are coming back nicely. Note the photo of her balancing on her toes while she hits a beach ball with an oversized raquet.

While she played, I met with her neurologist who offered his interpretation of Monday night's MRI and commentary on her case: Her improvement thus far has been "remarkable", and the damage from this stroke appears as he had expected in the MRI. The images also confirm that she suffered a previous stroke at least 6 months ago, in a similar location on the opposite (left) side of her brain.

The neurologist reasons that bilateral ischemic stroke along with the small size and curious location of the vessels in question all but rule out trauma or a blood clot as the underlying sources of these events. He's looking at two vascular diseases that are still within the differential diagnosis: Mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and Moyamoya disease. Both of these diseases are extremely rare, and neither would be good news for our daughter.

MELAS seems unlikely because children who suffer from it are generally very sick and developmentally delayed in many ways, wherease our daughter is otherwise in perfect health and has always been developmentally advanced. Lactic acidosis has been ruled out by numerous blood tests already, but the neurologist is proceeding with the DNA testing required to most definitively confirm or exclude this diagnosis.

Moyamoya likewise seems to be an imperfect fit at this point. It would explain the apparent bilateral ischemic strokes, but a key hallmark of Moyamoya -- a particularly abnormal pattern in the cerebral arteries -- seems to be missing. In fact, all signs seem to indicate that our daughter's cerebral vasculature is totally normal.

It may be that our daughter's stroke will fall among the 35% or so of pediatric strokes that are idiopathic, or have no known cause. From my current perspective, such a diagnosis would be preferable to either of the aforementioned diseases. We have another meeting with the neurologist tomorrow morning and will be sure to report on our progress in reaching a definitive diagnosis of our daughter's condition.

The rest of the day went well. Her soccer coach came to visit and brought her cards from her teammates and a soccer-ball necklace that she proudly wore for the rest of the day. An afternoon PT/OT session was complemented by a visit from a volunteer therapy dog. Upon pondering a dog among so many humans, our daughter asked: "Dad, how do the therapy dogs know what to do?" My answer of "they just know..." seemed to suffice until one of the volunteers offered that the animals have to go through a certification program before they are allowed to participate in therapy. Who knew that canine therapists needed credentials?

As for my wife and I, we're struggling to deal with the excitement evoked by our daughter's remarkable recovery from her stroke juxtaposed against the uncertainty that looms due to her inconclusive diagnosis, especially when none of the available explanations provide any intrinsic comfort. It's particularly difficult to explain to visitors who are understandably optimistic given an outward recovery that is by all measures a miracle that all may not be well with our daughter on the inside. We haven't even begun to consider how we will explain our daughter's own long-term outlook to her. How can we when it is still so uncertain and she is focused on nothing more than getting well enough to go home, and succeeding so remarkably?

At this rate it's likely that she'll be out of inpatient rehab by the end of the week. In the meantime, we're working to stay one or two moves ahead of the game by lining up our options for the next round.


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