We saw the neurologist today. He was great. He talked with me for a long time, he read all of her history, he read the notes I made him, and he spent time engaging KayTar. It was a stark contrast to our appointment with her previous neurologist. After looking over everything, he said he thinks it is paroxysmal toricollis. If you are familiar with torticollis (the kind infants have at birth), it isn't that kind. They describe the episodes perfectly. This is the FIRST time anything has ever accurately described the episodes. We never felt that seizure was the correct fit...and it seems as though it isn't.
All of the Internet material on this, is largely case studies and medical journal articles...not much layman's information floating around, so I'll give you some highlights.
"Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years."
"A miscellaneous episodic dystonic condition is benign paroxysmal torticollis of infancy, which typically begins in the few months after birth. These attacks may occur once every two or three weeks and last from hours to days. Typically, the head and/or trunk tilt to one or the other side."
"Probably not a true migrainous condition, paroxysmal torticollis means a convulsive contraction or shortening of the neck muscles. This rare disorder is characterized by repeated episodes of head tilting and is associated with nausea, vomiting, and headache."
"Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches."
"Episodes settle spontaneously, usually within a few hours, but may last up to 7 days, only remitting in sleep."
So all in all, it covers all of our major bases. This is GOOD. It is a diagnosis. If he is correct, we don't have to worry about these episodes damaging her brain, which has been our #1 worry, especially as they have lengthen considerably. Technically, they aren't treatable...but he said the Periactin might help because it is a migraine variant and Periactin controls migraines. He is also running blood tests to make sure her calcium channels are working properly, because if they aren't, it lends itself to this sort of episode.
He is running a more in-depth DNA panel, because this diagnosis only covers the episodes, not the delays or the brain abnormalities.
She had to have 3 needle pokes today to get all the blood. She started crying when we walking INTO the lab...she knew what was coming. It was all very sad. But a worker gave her a teddy bear with a note on it that says "You are beary special." and I thought it was very sweet.
She has a follow up MRI in 6 months, to determine if the lesions are growing. If they are, we are still looking at demyelination and leukodystrophy...although he said he doesn't think that is the case. There is nothing to be done about the lesions at this point...if they grow, we'll revisit that.
No hospitalization! Yay!!!