Ds's MRI is being reviewed at the Chiari Institute

[amo_mea_filiis.]

Ds had an MRI done in 2009 looking for a reason for his slight left side weakness. The report came back with low lying cerebellar tonsils, not a chiari malformation. Further reading of the MRI said the tonsils were 4mm low and minimally encroached, still not chiari. However, no one ever explained why a difference can be noted but mean nothing. I also get different answers verbally vs reports (one neuro said he probably did have some degree of cerebral palsy, but her report says no).

 

So i filled out a bunch of questionnaires, got 2 copies of his MRI cd and will send one copy to the chiari institute. I'm also including a DVD of pieced together video of him. I was told that the Drs will watch the video. The purpose of the video is to sort of explain things that come across very severe in writing, like his slightly off gait.

 

The chiari institute will not make a dx based on 1 MRI, but they will rule out a dx or say they need more scans. If they say more is needed, i will present it to his regular dr, or try the peds neuro one more time.

 

If the chiari institute says no chiari malformation and they do not need more info, we're going back to the neuro who said ds was severely autistic. We have not been back to this neuro in 2 years because he annoyed me. I will have the report from the chiari institute, the autism research center, and video of good moments. I will get this dr to put on his dr hat and do some thinking.

 

I don't mind if the neuro sends us somewhere else, but i will not accept a bs diagnosis based on a 10 minute appt.

 

Neuropsych is on hold while i make way to pay for it.

 

We're back to the Figuring Out ds Game because his new therapist started and was sure he was working with a spectrum kid. 3 more times and he's leaning towards the research center's "diagnosis" of complex. This therapist has tons of experience with kids and adults with all sorts of problems, and ds stands out to him as unique and complex. He did help to get started on a good schedule for school, but we have a lot of time that needs to be filled in.

 

We're also going to go to a university's speech clinic to see if the language disorder has a name. I can't come close to paying for the PROMPT therapist i found.

 

I am going to see about getting ds's therapies increased to at least twice per week. He has gained some skills in OT, but i do not see much fine motor improvement. We have minimal sensory improvement (he will tolerate a regular swing a bit, and can tolerate going high in a handicap swing). He has not had language improvements in years.

 

If anyone has any ideas for rocks to look under, Drs with a great reputation (preferably in PA for insurance reasons), or any articles they have come across, let me know.

[PeterPan]

Well I don't know what most of that means, but I'm glad someone is trying to help you and really digging! Let us know how it turns out...

[Tiramisu]

MRI reports have puzzled me because different radiologists note different things. I think that they may note different things based on any comments made by the doctor who ordered them. In other words, the radiologists may have been asked to rule out such and such.

 

When we had an MRI done the second time a few years apart the second radiologist noted things that the first radiologist didn't pick up, even though the the second radiologist looked at the first MRI and confirmed the same thing was present there. It was noted but later explained as normal by the doctor who ordered it.

 

My feeling was that when the first MRI was looking for more glaring, obvious things. While the radiologist who looked at the second MRI was looking for more subtle things based on the medical background we had at the time. Also, the second MRI was looked at by a neurophysiologist, not just a plain ol' radiologist, so that could have accounted for some difference. Based on this experience, I do think you're in good hands with the Chiari Institute. They would really be the experts on all the variations.

 

I had one with a strong one-sided dominance. It was never stated as a weakness, but it makes sense that it was. When that was identified, the dc was not much older than your ds. A few years later, that seemed to resolve. None of the three neurologists we saw after the first one could find any weakness, and the first one was really good and experienced so I don't think he was wrong about it.

 

The neurologist we saw most recently warned me that there can be tiny things that don't show up on an MRI. It doesn't mean it's not there.

 

You have a lot going on and it's really to your credit that you can manage to follow up on all these leads. I hope you get answers to give you some peace and help you find ways to help your ds. (hugs) :)

 

 

[amo_mea_filiis.]

Thanks ladies.

 

I do think he should have another MRI and maybe even a CT just based on his issues alone. But around here, that would just be another check mark in the munchausen's box.

 

I just got off the phone with a pediatrician friend in NY. He gave me the name and number of a neurologist who thinks outside the box. We may not be able to visit this guy, but maybe he'd be willing to look at ds's records and talk with me. I really want to find a neurologist that will look at this cerebellar cognitive affective disorder and see if it could fit ds. But I don't want just that answered. If it can't be that, then what?

 

Pediatrician friend is on my side regarding the possibility of brain damage. I just dont get how multiple neurologists could or would dismiss violent head banging starting at a young age as a problem.

 

Then i think that if the head banging did cause some damage, what caused him to start banging his head! Lol. I could accept the easy answer of ear pain. He had tubes put in at 18 months old and was a different kid for 2 weeks. Maybe after the tubes were put in, the damage was already done and he continued.

 

Then I'm afraid that if it *is* brain damage, i know he banged his head, but cant prove that, so will i be blamed for it?

 

I dont think (based on reading) that ds has a chiari, but will leave that up to the chiari institute. I'm only going after this because he did have the tiny abnormality on the MRI. I hope that they'll not just look for a chiari, but will look at the cerebellum overall. Obviously i hope they really read the entire MRI with interest.

[Crimson Wife]

No advice but lots of :grouphug: :grouphug: :grouphug: and prayers that you get some answers and options for treatment.

[amo_mea_filiis.]

I just watched a presentation on youtube (over an hour long) on cerebellar cognitive affective disorder. I'm now even more convinced that ds has a cerebellar disorder, or some mild degree of damage to the cerebellum. The Dr who described CCAS and did the presentation was very close to describing my son! The problem is that all the patients described as having CCAS, developed it after surgery in the cerebellum or stroke. One of the characteristics is having a personality change, which ds has never had, unless it happened so early (under 8 months old) that there's no way to know.

 

I have no idea what, if anything, will come from this, but I'm going to write to the two Drs who wrote the article on CCAS. I'm also going to see if the library can get the book written by the same Drs on cerebellar disorders in children.

 

Executive function seems to be the biggest problem (or the one that stands out the most) in CCAS. Speech problems are common. Inappropriate behaviors are seen (ds walked up to a neurologist and told her he sees her cleavage, which made her laugh and gave her a good story for the day), anger, hyperactivity, irritability, etc.

 

It really seems to take every single one of ds's problems and wrap it up in one little package. Cognitive behavioral therapy was mentioned somewhere in my reading. It's something to look into.

 

One of the Drs involved is a neurologist and the other is a neuropsychologist. Maybe this is the neuropsych we need to see.

 

I'm rambling now. I have to go clean. And think. And clean some more.

[Tiramisu]

You are my kind of woman!!! Why not ask the experts?!!

 

When a neurologist checked my dd's cerebellum function, I remember her having dd walk and run down the hall. I'll try to remember what other things she did. Maybe jumping on one foot at a time.

[Tiramisu]

I have to clean and rake leaves. This thread has been nicely distracting. I wish all good things for the OP and her ds. :)

[Ottakee]

Have they looked at mitochondrial disorders? Many of those can go with Chiari I, learning delays, complex issues, behavioral challenges, etc.

 

I think that a 3 year old scan might need updating as our doctor has us redo our daughter's every year for her Chiari I.

 

I understand about having a child who is hard to figure out. Our main diagnosis for years was "hmmmm, that is interesting" or "hmmmm, we haven't seen that before", etc.

 

Now they are thinking that the mito issues are behind most of the issues we have.

[geodob]

Amo, you wrote about this 'tiny abnormality' of 4 mm of the tonsil.

But this 4 mm needs to be seen in scale to size of the area involved?

Where we are looking at area at the juncture of the skull and spinal column. So that this 4 mm's occupies a significant space.

 

The critical area, is the foramen magnum, which is a funnel-like opening to the spinal canal.

So that this 4 mm lowered tonsil, is extending further than it should, into this 'funnel'.

Where this 'funnel', funnels the neural wiring between the cerebellum and the muscles of the head and body.

 

Though classic Chiari, is a result of an undersized bony cavity that contains the cerebellum and brainstem.

With the result that, the cerebellum and brain stem are pushed downward into the foramen magnum and into the upper spinal canal.

Which can also have a significant effect on the nerve tissue that connects both sides of the cerebellum.

 

Yet Type IV Chiari, is specifically an incomplete or underdeveloped cerebellum, which would also include acquired injury, such as surgery, stroke, etc.

While Chiari has so far been defined as 5 types so far, Type 0 to Type IV.

This will no doubt be expanded, as the complexity is increasingly understood ?

Where for example, their would be a differential impact of low lying cerebral tonsils of 2, 4 or 6 mm's?

Where it has identified that the effect is not distributed throughout the spinal column?

But rather descends, with C1 at the top being first effected.

Where crucially, a comprehensive understanding of the nerves that emerge from each cervical vertebrae has already been defined.

So that a more practical diagnosis, would be to identify the effected nerves at each cervical vertebrae?

While the MRI identified that the tonsils were 4 mm's low, this also needs to be looked at as not just 'lower extension'?

But also the associated 'lateral extension' ?

 

Though what I am really suggesting, is that rather looking for labels such as Chiari?

What would be more effective, would be to diagnose it in terms of the effect on the cervical vertebrae?

Starting at C1, then onto C2, and C3, etc,

But C3 plays a primary role in breathing, which he doesn't seem to have a problem with?

 

So that a more practical diagnosis, would be to identify the specific nerves in C1 and C2 that are effected, and further to this, the effect on each nerve? Where a critical distinction that needs to be defined, is the difference between a nerve that has limited or no connection?

Given that a limited connection has potential, but no connection is no connection.

Yet more often it is a limited connection.

But this would rather reframe a diagnosis as affected nerves within C1 and C2.

[amo_mea_filiis.]

Mito has not been considered, but i will look into it.

 

Our biggest hurdle is that some Drs think he's nothing more than a bratty kid, or have changed their opinions. Like our first neurologist who considered fragile x, muscle diseases, prescribed risperdal, but then told me it was abusive to use a stroller to contain him when needed (the appt when he was in his stroller he was the best behaved at the office).

 

His mood, behavior, and ability to get answers out of people is why i have to wait to go to neuropsych. If this neuropsych that was involved in the CCAS research does not do the qEEG, i may still consider seeing her.

 

He's really good at making people believe he doesn't know something. He'll have a tantrum or keep repeating i dont know, even for a simple math problem. If i am alone with him and ask 2+2, he may start screaming that he doesn't know, but i will wait him out, eventually he gives up, comes back to me and says 4. If ANYONE does this with him, he gets them to start prompting and it gets to the point where the person asking him will hold up 4 fingers for him to count. This even happened with a sped teacher who i thought knew better than to give in. It's happened with his ot (i can remind her), his speech therapist, his behavior therapists, etc. So I'm really hesitant when others work with him because he never has to think.

 

We had a psychologist (the one that accused me of abuse) say that my son (with a language disorder!) was very guarded in his responses and careful about what he "revealed" during the interview! He answered in his typical yes or no fashion and had no interest in talking to this guy.

 

This is all just ranting now, sorry. I just hope that 2 Drs who are actively involved in research will have an interest in my son and will not pull the same crap we've always gotten.

 

I should be getting the reports from the autism research center soon, and I'm scared to read them. I'm probably the only parent who cried hearing their child is Not autistic! Lol. But it wasnt just that. It was a long day that we spent months preparing for. It was supposed to be THE final big appt to answer what ds's issues are, and i leave having been told he's complex and that they had no starting points for a diagnosis, and i should put him back in ps with an IEP. An IEP that takes months of serious work on my part, making sure the school does what they're supposed to, fighting with him after school, fighting with the nurse to give him a simple dose of xopenex before recess when he has a cold, which he had most of the school year because he picked up every little virus. I am done fighting with the school systems who have no idea how to even teach my son, IEP or not.

 

Blah. Sorry for all that. Lol.

[Tiramisu]

^{:grouphug: Just hugs. I totally relate to your need to vent.}

 

^{I cried with a dx, not because I was sad but because I was so relieved to know there was something. that I wasn't imagining it, and that it wasn't my fault.}

^{ETA: I don't know what's with the teeny weeny font.}