More diagnoses......

Izzy had another neurology appointment the other day and we were there a very long time :\  There were many things to talk about.

We got the full results of the MRI.  It showed two cysts in her brain.  The Rathke's Cleft Cyst near the pituitary gland I was told about over the phone and another cyst on her pineal gland.  The pineal cyst needs to be watched because if it grows, they will need to remove it since it would prevent fluid from draining out of the brain if it grows.  It can also affect sleep so that may possibly be while she isn't the best sleeper.  She rarely sleeps through the night. 

Her neurologist was able to pull up the results of her endocrine panel and everything looks good so the Rathke's is not affecting her pituitary gland function.  yay!  We also talked about the myelin sheaths--they are not as developed as they should be but it is possible that, given time, they will catch up.  In one year we need to repeat the MRI to check the cysts and the myelination.  At that time, they will also need to get a contrast MRI of her pituitary gland. 

The MRI also showed a structural abnormality.  I forget what it is called but the part of the brain that connects the two hemispheres is too short.  Dr. W said that this is often seen in patients with genetic conditions so he's hoping genetics will find something because a diagnosis will guide him in how to continue treating her.

Her 24 hour EEG isn't completely processed but he was able to look through parts of it and get a treatment plan going.  One of the reasons we did the original short EEG and MRI was Izzy's falling.  She has your normal toddler falls where she trips over things but she also will fall for no apparent reason.  Sometimes she will be walking and just fall over or she will be standing or sitting still and fall.  When this happens, she also does not put her hands out to stop the fall so she hits her head and face a lot.  She also randomly walks into things (walls, doorframes, furniture).  While her eyesight is borderline for needing glasses for her age, she can see well enough to not walk into walls, you know?  And sometimes its like she "pauses" after a fall or walking into something--she will just be still and staring for ten to thirty seconds before reacting. Her EEG shows that a small portion of her brain misfires. A lot.  More than your "average" person with epilepsy.  While we did not catch one of her episodes on the EEG, her unusual brain activity coupled with the falling, the pausing, not putting her hands out for those falls, etc tells him that she is having focal seizures.  The abnormal brain activity she is having in that part of her brain is known for causing seizures so he believes that the falls where she does not try to catch herself and "pauses" are a seizure.  And he thinks when she walks into something she should be able to see, she is seizing--he said in some focal seizures, just one part of the brain shuts down so while she continues walking, the part of the brain that would stop her from walking into a wall has stopped.  So she walks into the wall and doesn't react to that until her brain "wakes up".  So we started a low dose of an anti-seizure med used for epilepsy.  We will up the dose after a week and then give it some time to see if it works or if we need to up the dose again.  She will be on it for two years and then they will check to see if we can wean her off or if she needs to stay on it. 

Poor kid just can't catch a break :(