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 :( 

A trip to the pediatrician

When I spoke to neurology about the MRI results, they told me they were sending the report to the pediatrician and to follow-up with her as the next steps would be handled by Izzy's PCP.  So yesterday we set off to see the doctor :p  The nurse gave her stickers while we were waiting so first she hid under the exam table with them:

When she came out of hiding, she wanted to show off her stickers

And then she decorated the diaper bag :p

So, there were a few things on the MRI report.  First, it appears there's some abnormalities with her pineal which I'm told regulates the production of melatonin.  This might explain why she's a poor sleeper :p  But its "normal" enough that there are no recommended treatment plans at this time.

Then there's the Rathke's cleft cyst.  Recommendation is to run an endocrine panel (which her doc already had an order written up and we went for that lab draw after the appointment) and to also, at some point, get an MRI with and without contrast of the pituitary gland. 

There is also some concern about the myelination in her brain and they are asking we do another MRI in one year to check her growth and development and make sure the myelin sheaths are where they are supposed to be.

Now, Iz is not showing any outward signs of a problem with the pituitary gland but we have a pretty good track record of "just in case" checks turning up a problem so we are going to go ahead her endocrine function.  If any of the numbers are off, she will be referred to an endocrinologist and we will set up the MRI of her pituitary gland.  If her numbers are fine, we will wait on the pituitary gland MRI until it can be combined with the one in a year for the myelin.  Unless some problem develops, of course. 

So now we just wait to see what her labwork says!

Would you like to see my GIANT EYES?

So it was time (past due a little, actually--the offices we go to switched owners and our call to remind us to schedule got lost in the shuffle :p  Reading that the Rathke's cleft cyst sometimes can effect vision reminded to call and set up an appointment) for Iz to visit her ophthalmologist. 

Normally, Iz does great with these appointments and is incredibly compliant and follows directions and tries her best to do whatever the techs and doc ask her to do.  But, as you know, her anxiety, particularly in medical situations, has been through the roof so this particular appointment was challenging ;-)  Her doctor is so great though, and is very patient and Iz really does like her so she relaxed enough for a good exam. 

However, it was one of those visits where she needed her eyes dilated.  She remembered those drops from a year ago and oh, boy, was she MAD.  We got them in, though, and retreated to the dim waiting room to wait for the drops to properly dilate her pupils.  She gave me her sad panda face while we waited:

And then demanded I take a picture of her eye to send to her daddy.  She told me her eyes felt too pointy and she couldn't look at the books they had in the waiting room.

While we were in the waiting room, she got restless because everything she tried to do from looking at books to playing a game on my phone looked funny to her and she didn't like it.  So I was leaning her back down my legs so her head hung down and I tickled her.  She would sit back up and tell me again, so I'd lean her back and tickle her again.  The four year old sitting across from us asked his mom if Izzy was a vampire because her top teeth to the side are pointy LOL  It was adorable.  I promised him she wasn't a vampire and he settled back down.

Soon it was time to go back to the exam room.  She explored a little:

And played peekaboo:

And then finally was ready for her exam.  (Not really, she ended up needing me to come sit in the chair and then she sat in my lap and I helped her hold her head still :p  If I tried to let her do it on her own, she grabbed my hands and put them up to her head.  Silly girl).

So the prognosis is astigmatism is still there, near sightedness has gotten worse but she is just under the cutoff for her age group to get glasses.   So no glasses yet (which made her made--she really wants some and kept howling in the checkout line "I want glasses!  I want glasses!") but I think its almost guaranteed next year.  The rate at which her eyes have gotten worse did slow down, though, so we are going a year instead of six months until her next check up.

Our schedule is getting way too full.....

Its like the floodgates have opened.  I spent so long trying to get referrals, trying to find places that could give us some answers, trying to find out the reasons behind why I had this feeling things were "off".  And since we switched to this new pediatrician, things have slowly trickled in.  We got therapy started for Iz and S for their anxiety, S has been getting special ed services at school to help him with his problem areas, S went to cardiology (where we found out those symptoms chalked up to "FTM worry" all those years ago were actual due to a CHD), we got a referral to genetics for all three kids, a referral to neurology for Iz, we started the evaluation process for B (and kept hitting roadblocks *sigh*).  Seems like a lot, eh?

But now?  All of that stuff up there was over the course of almost a year.  But now we have Iz getting a full genetic workup and the geneticist is referring her to neuropsych to get some evaluations.  We discovered a problem neurologically so she's got that 24 hour EEG coming up plus her MRI found that cyst in her brain so she has a pediatrician appointment soon to follow-up on that and decide whether we are going to test her pituitary function.  Her Early Intervention coordinator and EI playgroup teacher are moving forward with repeating her evaluations to see if she qualifies for special ed services next year to keep her in the program because of her speech/social/anxiety issues.  And she has her ophthalmologist appointment coming up as well.  B had his intake appointment with neuropsych and is scheduled for a full evaluation.  S is scheduled for an intake appointment with the same neuropsych.  I finally found a dentist willing to see all three kids (as soon as they hear heart kid, ADHD/SPD, and autism-like behaviors, the dentist offices are "full" or "not equipped") so those appointments are coming up, too.  Plus all of our normal appointments :p  The next month is busy busy busy busy busy :p

MRI results!

When Iz came back from her MRI, she did NOT want to wake up.  Kiddo just wanted to sleep and sleep and sleep.  Her nurses (she had two at this point) and the doctor joked that she exhausted herself fight the sedation so now she needed extra sleep :p  And she did fight it, right up to the end.  One of the nurses remarked on how surprised she was Iz was still awake and moving so far into the medication drip.  But she did eventually go to sleep and went back for her MRI. And in recovery, she slept and slept and slept :p

It probably didn't help that this was during her normal naptime as well.  Eventually we got a few stirs from her but she'd crack one eye open, peek at me, and then go right back to sleep.  Even sitting her up didn't rouse her much.

Eventually, though, she did wake up enough to agree to a Popsicle, followed by teddy grahams and a water (she didn't want the juice the nurse offered but was all for a bottle of water!).

 

Up until this point, she had only said a few words to me in a whisper but I think the medications were making her a little loopy because when she finished her teddy grahams, she belted out in a clear loud voice "ALL GONE NOW.  I WANT TO GO. I WANT MY PAWPAW."  LOL  They could hear her all over the recovery unit :p  So we packed up and off we went to the car.  I had her stroller, which was a very good thing as she was nodding off while we walked and I'm pretty sure she was asleep before we even left the parking garage.  She was a little wobbly the rest of the day and part of the next but I was told the meds would be in her system for about 24 hours so expect her to be a little "off".  That didn't slow her down--the doctors orders to sit and watch tv?  She wasn't having any of it.  We had her running around in my dads yard so at least when she fell over, it was in the soft grass :p  She wasn't going to just sit around!

I got the call late yesterday afternoon with the results.  She has a cyst in her brain near the pituitary gland called a Rathke’s cleft cyst.  Neurology says that these cysts are normally harmless if they remain small but can interfere with the pituitary gland.  Next step is to talk to the pediatrician and see if she wants to do some lab work (endocrine panel) to see if the pituitary is being affected.  I'd prefer to do the panel, just in case.  Neurology also said it is very unlikely that this cyst is causing her abnormal EEG so no answers there--next up is May's 24-hour EEG.