6 replies to this topic

[JenASayQua]

I am the adoptive mother of a 28yo woman who has been experiencing what we thought was an occasional seizure. However, in the last month, she has gone from one seizure every once in a while (months apart) to 40-80 seizures a day. At least, we think they are seizures...

Our daughter has fetal alcohol syndrome, is deaf, has Rubenstein Taybi Syndrome, plus a moderate mental handicap. She is not able to communicate to me everything that is happening. I'm hoping to find some people who can help me guess what directions to go in to find her the right medical care.

I think she is experiencing a "halo effect" because she seems to feel the "seizures" coming on. She will walk across the room and when she gets to me, falls on my shoulders. I will hold her, and she twitches, mostly at the wrists. Sometimes her eyes move, sometimes she's staring out in space.

We called a neurologist, who pulled out her charts and scans from the last year. As it turns out, an MRI last fall revealed a broken C2. The MRI also states that her spinal cord is "mushy" at the top. No leaking spinal fluid is detected. She had another MRI in April, which also showed the break. The break appears to be old, like maybe even before her adoption.

(I must state here that I'm very frustrated. No one told us these things were in her scans
. In April, a neurologist said "she's got something going on with her neck." That was it. No follow up, either. I finally pulled her reports myself, which is why I know it is broken.)

Now we are seeing a spine specialist (ortho) who said she needs a two screw surgery, as a best course of treatment. What we know is that it is at least 8 hours of surgery, and it may or may not stop the seizure-looking-activity.
Other possibly related symptoms/signs...
-She's started wearing a pull-up full time last summer. We thought it was because her period was frustrating her.
-She's grabbing her chest a lot. I think that sometimes she's struggling with breathing, but her blood oxygen level is normal.
-She's walking like a drunk person, running into things. She's also dropping things a lot.
-Her spine specialist showed me that she seems to have hyperreflexia. I think this may be more of what we're seeing than true seizures.
-She's complaining about lights, shielding her eyes.
-She complains of head pain, sometimes before but always after the seizure-y episodes.
-She's having weird nosebleeds. Out of nowhere, and sometimes both sides at once.

She seems to be getting rapidly worse. There was no twitching until about a month ago, and now it happens all day long. Tonight she collapsed 4 times in 30 minutes, fully unconscious but recovering within a few minutes. I took her to the ER, where they were quite condescending. "We can't fix your daughter's epilepsy, ma'am." But things are getting worse in a way that scares me. I fear it won't be long before she can't walk at all.

I would love any insights anyone could give me into the C2 repair surgery, how spinal cords heal (when/if they do), what symptoms are true emergencies and what we just have to learn to deal with, etc. Also, her spine specialist is telling us that he has to put together a team and study her scans to make a surgery plan. He told our dentist that he'd like to do her surgery within a month (we can't seem to get him to hurry it in any way, even though she seems to be rapidly declining). The dentist is involved because she is supposed to be having impacted wisdom teeth removed, but now the spine specialist says that knocking her out to do that is too dangerous while her neck is in the condition it is in.

Anyway (sorry about he rambling)... I was so thankful to find a forum like this one, it has more information than I have seen anywhere else! I'm going to keep reading around.

~Jen

[Tetracyclone]

You have good reason to worry about continued loss of function. You must get a second opinion, and if it were me I would pack her up and go to the Mayo Clinic for a full evaluation. That is the only place I know that will do an interdisciplinary evaluation, and their rep for neurosurgery is excellent.

[JenASayQua]

 Tetracyclone, on 24 July 2011 - 01:53 PM, said:

You have good reason to worry about continued loss of function. You must get a second opinion, and if it were me I would pack her up and go to the Mayo Clinic for a full evaluation. That is the only place I know that will do an interdisciplinary evaluation, and their rep for neurosurgery is excellent.

Thanks for your suggestion. I will look into it. Yesterday was terrible. She had seizures for 6 hours straight, even though her Depakote level is elevated and she'd been given a rectal Diazipan (sp?) dose. In the ER, they couldn't believe they couldn't stop her seizing. They gave her another drug, but it didn't help, and sent her home.

I went to the spine specialist's office to report her new symptoms (seizures that won't stop with the emergency drug, fecal incontinence), and they just said, "Sorry, he's still reviewing her films."

I think I'll call the Minnesota Mayo clinic... it looks the closest...

[wheeliebear75]

Have the Dr.s she has come up with a game plan yet or are they still mulling it over? I would think that the hospital would do an EEG to see what's going on. I lost track of how many tests Children's Hospital did/ran to map out the seizure activity. But to just ass-u-me it's epilepsy without running the tests that confirm it seems negligible to ME.

[lonebobseytwin]

are they sure they a seizures? I was innitially put on sezure medication because I kept cpllapsing out of no where (and because I'm "light sensitive" which I've been my whole life.), the twitching might just be symptomatic, its hard to have control over yourself when your about to go down or are going down. I had little to no aura over most of mine.
I have SCI but am a walker with a injury that is normally classified as a pediatric even though I was 20 when it happened.

Because I was young and my symptoms where strange no one bothered to look at my blood pressure. it was so low it could not hold me up as it once did. Something that is very common for some people with SCI or related problems.
I had these strange collapsing episodes until I finally blacked out during one.
Try seeing of someone (ie. a cadiologist) can order a tilt table test. You would know for sure if that was the case if she fainted during the test, it could help clear things up or at least eliminate something that hasn't been looked at.

just a thought.

[Tetracyclone]

 JenASayQua, on 26 July 2011 - 10:18 AM, said:

I think I'll call the Minnesota Mayo clinic... it looks the closest...

Minnesota Mayo= superb reputation.

[ajl338]

Maybe you also need to ask them to look at spinal fluid pressure.
When my spinal fluid pressure isnt right i get nose bleeds out of nowhere and splitting headaches. I feel dizzy and sick and havent got a clue what is happening around me. I lose all sense of balance and can not coordinate my limbs.

I have been diagnoised with low spinal fluid pressure in the past but been told there was no leak (no idea where it went to) but your spinal fluid circulates in your spine like your blood does in your body. Except it has no pump, it relies on graviety to circulate it. This works well in a healthy spine but once you add in some spinal damage you end up with little pockets of the fluid, which sits there and doesnt circulate properly causeing you all kinds of problems. Doctors dont seem to think it is an issue but it isnt them experiencing it.

When it is really bad i cant do much more than lay flat. I used to get a bit like panic attacks which was when i realised i was feeling faint and about to fall over, or my ears were ringing too much and i couldnt make sense of the world around me, they left me feeling like my heart was about to jump out of my body.

If you havent found out already, doctors are not very good at dealing with a lot of medical conditions, its ok if you jump right out a medical text book. You should keep bothering them until someone does decide to do something. If you want to find out more the man who knows most about spinal fluid circulation is Dr Aldrete from Alabama, the condition he researches is called arachnoditis but some of his litriture is interesting reading